TranslFac Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Gene Summary

leaf

Translation studies in PubMed

leaf

Exon Skipping Events

leaf

Expression

leaf

Expression Regulation

leaf

Associated Genes

leaf

Protein 3D Structure

leaf

Protein-Protein Interaction

leaf

Mutations

leaf

Prognostic Analysis

leaf

Gender Association

leaf

Age Association

leaf

Related Drugs

leaf

Related Diseases

Translation Factor: STAT3 (NCBI Gene ID:6774)


Gene Summary

check button Gene Summary
Gene InformationGene Name: STAT3
Gene ID: 6774
Gene Symbol

STAT3

Gene ID

6774

Gene Namesignal transducer and activator of transcription 3
SynonymsADMIO|ADMIO1|APRF|HIES
Cytomap

17q21.2

Type of Geneprotein-coding
Descriptionsignal transducer and activator of transcription 3DNA-binding protein APRFacute-phase response factor
Modification date20200329
UniProtAcc

P40763


check button Child GO biological process term(s) under GO:0006412
GO IDGO term
GO:0017148Negative regulation of translation
GO:0006417Regulation of translation
GO:0006412Translation


check button Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSTAT3

GO:0006355

regulation of transcription, DNA-templated

15664994|17344214

HgeneSTAT3

GO:0006606

protein import into nucleus

18234692

HgeneSTAT3

GO:0010507

negative regulation of autophagy

26962683

HgeneSTAT3

GO:0010628

positive regulation of gene expression

23820254

HgeneSTAT3

GO:0030522

intracellular receptor signaling pathway

17324931

HgeneSTAT3

GO:0032355

response to estradiol

12552091

HgeneSTAT3

GO:0032870

cellular response to hormone stimulus

12552091

HgeneSTAT3

GO:0033210

leptin-mediated signaling pathway

17344214

HgeneSTAT3

GO:0035278

miRNA mediated inhibition of translation

23820254

HgeneSTAT3

GO:0044320

cellular response to leptin stimulus

17344214

HgeneSTAT3

GO:0044321

response to leptin

17344214

HgeneSTAT3

GO:0045893

positive regulation of transcription, DNA-templated

19390056

HgeneSTAT3

GO:0045944

positive regulation of transcription by RNA polymerase II

17324931|27050391|31462771

HgeneSTAT3

GO:0051726

regulation of cell cycle

17344214

HgeneSTAT3

GO:0060396

growth hormone receptor signaling pathway

10925297

HgeneSTAT3

GO:0060397

JAK-STAT cascade involved in growth hormone signaling pathway

12552091

HgeneSTAT3

GO:0070102

interleukin-6-mediated signaling pathway

12359225|12552091|17324931|24429361

HgeneSTAT3

GO:1902895

positive regulation of pri-miRNA transcription by RNA polymerase II

19390056|23820254

HgeneSTAT3

GO:2000637

positive regulation of gene silencing by miRNA

23820254



check button Inferred gene age of translation factor.
GeneInferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25


Top


Translation Studies in PubMed

check button We searched PubMed using 'STAT3[title] AND translation [title] AND human.'
GeneTitlePMID
STAT3FMRP regulates STAT3 mRNA localization to cellular protrusions and local translation to promote hepatocellular carcinoma metastasis33972660


Top


Exon Skipping Events

check buttonSkipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
For more annotations, please visit our ExonSkipDB.
all structure

check button Open reading frame (ORF) analsis of exon skipping events based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ENSTExon skip start (DNA)Exon Skip end (DNA)ORF
ENST000002646574047429940474512In-frame
ENST000005889694047429940474512In-frame
ENST000002646574047527740475372Frame-shift
ENST000005889694047527740475372Frame-shift
ENST000002646574047698040477079In-frame
ENST000005889694047698040477079In-frame
ENST000002646574047813340478217In-frame
ENST000005889694047813340478217In-frame
ENST000002646574048157140481665Frame-shift
ENST000005889694048157140481665Frame-shift
ENST000002646574048348940483549In-frame
ENST000005889694048348940483549In-frame
ENST000002646574049133140491427In-frame
ENST000005889694049133140491427In-frame
ENST000002646574049757640497675In-frame
ENST000005889694049757640497675In-frame
ENST000002646574049858640498731Frame-shift
ENST000005889694049858640498731Frame-shift
ENST0000058896940500406405005353UTR-3CDS

check button Exon skipping position in the amino acid sequence.
ENSTExon skip start (DNA)Exon Skip end (DNA)Len(transcript seq)Exon skip start (mRNA)Exon Skip end (mRNA)Len(amino acid seq)Exon skip start (AA)Exon Skip end (AA)
ENST000005889694047429940474512278920942306770629700
ENST000002646574047429940474512506422022414770629700
ENST000005889694047698040477079278915711669770455488
ENST000002646574047698040477079506416791777770455488
ENST000005889694047813340478217278914871570770427455
ENST000002646574047813340478217506415951678770427455
ENST000005889694048348940483549278912551314770350369
ENST000002646574048348940483549506413631422770350369
ENST0000058896940491331404914272789578673770124156
ENST0000026465740491331404914275064686781770124156
ENST000005889694049757640497675278947957777091124
ENST000002646574049757640497675506458768577091124

check button Potentially (partially) lost protein functional features of UniProt.
UniProtAccExon skip start (AA)Exon Skip end (AA)Function feature start (AA)Function feature end (AA)Functional feature typeFunctional feature desc.
P407636297002770ChainID=PRO_0000182417;Note=Signal transducer and activator of transcription 3
P407633503692770ChainID=PRO_0000182417;Note=Signal transducer and activator of transcription 3
P407634274552770ChainID=PRO_0000182417;Note=Signal transducer and activator of transcription 3
P407634554882770ChainID=PRO_0000182417;Note=Signal transducer and activator of transcription 3
P407631241562770ChainID=PRO_0000182417;Note=Signal transducer and activator of transcription 3
P40763911242770ChainID=PRO_0000182417;Note=Signal transducer and activator of transcription 3
P407636297002770ChainID=PRO_0000182417;Note=Signal transducer and activator of transcription 3
P407633503692770ChainID=PRO_0000182417;Note=Signal transducer and activator of transcription 3
P407634274552770ChainID=PRO_0000182417;Note=Signal transducer and activator of transcription 3
P407634554882770ChainID=PRO_0000182417;Note=Signal transducer and activator of transcription 3
P407631241562770ChainID=PRO_0000182417;Note=Signal transducer and activator of transcription 3
P40763911242770ChainID=PRO_0000182417;Note=Signal transducer and activator of transcription 3
P40763629700580670DomainNote=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191
P40763629700580670DomainNote=SH2;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00191
P40763124156150162MotifNote=Essential for nuclear import
P40763124156150162MotifNote=Essential for nuclear import
P40763629700631631Modified residueNote=Allysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28065600;Dbxref=PMID:28065600
P40763629700631631Modified residueNote=Allysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28065600;Dbxref=PMID:28065600
P40763629700631631Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28065600;Dbxref=PMID:28065600
P40763629700631631Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28065600;Dbxref=PMID:28065600
P40763629700685685Modified residueNote=Allysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28065600;Dbxref=PMID:28065600
P40763629700685685Modified residueNote=Allysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28065600;Dbxref=PMID:28065600
P40763629700685685Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28065600;Dbxref=PMID:28065600
P40763629700685685Modified residueNote=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28065600;Dbxref=PMID:28065600
P40763124156143143Natural variantID=VAR_018679;Note=M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs17878478
P40763124156143143Natural variantID=VAR_018679;Note=M->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs17878478
P40763427455437437Natural variantID=VAR_037372;Note=In AD-HIES%3B loss of function. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17676033;Dbxref=PMID:17676033
P40763427455437437Natural variantID=VAR_037372;Note=In AD-HIES%3B loss of function. H->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17676033;Dbxref=PMID:17676033
P40763455488463463Natural variantID=VAR_037373;Note=In AD-HIES%3B loss of function. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17676033,ECO:0000269|PubMed:17881745;Dbxref=PMID:17676033,PMID:17881745
P40763455488463463Natural variantID=VAR_037373;Note=In AD-HIES%3B loss of function. Missing;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17676033,ECO:0000269|PubMed:17881745;Dbxref=PMID:17676033,PMID:17881745
P40763629700637637Natural variantID=VAR_037378;Note=In AD-HIES. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17881745;Dbxref=PMID:17881745
P40763629700637637Natural variantID=VAR_037378;Note=In AD-HIES. V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17881745;Dbxref=PMID:17881745
P40763629700637637Natural variantID=VAR_037379;Note=In AD-HIES%3B reduced DNA-binding ability. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17881745,ECO:0000269|PubMed:26293184;Dbxref=dbSNP:rs113994139,PMID:17881745,PMID:26293184
P40763629700637637Natural variantID=VAR_037379;Note=In AD-HIES%3B reduced DNA-binding ability. V->M;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17881745,ECO:0000269|PubMed:26293184;Dbxref=dbSNP:rs113994139,PMID:17881745,PMID:26293184
P40763629700644644Natural variantID=VAR_037380;Note=In AD-HIES. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17881745;Dbxref=PMID:17881745
P40763629700644644Natural variantID=VAR_037380;Note=In AD-HIES. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17881745;Dbxref=PMID:17881745
P40763629700646646Natural variantID=VAR_071886;Note=In ADMIO1. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25038750;Dbxref=dbSNP:rs587777649,PMID:25038750
P40763629700646646Natural variantID=VAR_071886;Note=In ADMIO1. N->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25038750;Dbxref=dbSNP:rs587777649,PMID:25038750
P40763629700657657Natural variantID=VAR_037381;Note=In AD-HIES%3B reduced DNA-binding ability. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17881745,ECO:0000269|PubMed:26293184;Dbxref=dbSNP:rs193922721,PMID:17881745,PMID:26293184
P40763629700657657Natural variantID=VAR_037381;Note=In AD-HIES%3B reduced DNA-binding ability. Y->C;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17881745,ECO:0000269|PubMed:26293184;Dbxref=dbSNP:rs193922721,PMID:17881745,PMID:26293184
P40763629700658658Natural variantID=VAR_071887;Note=In ADMIO1. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25038750;Dbxref=dbSNP:rs587777650,PMID:25038750
P40763629700658658Natural variantID=VAR_071887;Note=In ADMIO1. K->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:25038750;Dbxref=dbSNP:rs587777650,PMID:25038750
P40763427455434435MutagenesisNote=Inhibits leptin-mediated transactivation of CCND1 promoter. No effect on interaction with INPP5F. EE->AA;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344214,ECO:0000269|PubMed:25476455;Dbxref=PMID:17344214,PMID:25476455
P40763427455434435MutagenesisNote=Inhibits leptin-mediated transactivation of CCND1 promoter. No effect on interaction with INPP5F. EE->AA;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:17344214,ECO:0000269|PubMed:25476455;Dbxref=PMID:17344214,PMID:25476455
P40763124156133133Sequence conflictNote=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P40763124156133133Sequence conflictNote=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305
P40763455488460460Sequence conflictNote=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P40763455488460460Sequence conflictNote=P->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
P40763629700652652Sequence conflictNote=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P40763629700652652Sequence conflictNote=E->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P40763629700667667Sequence conflictNote=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P40763629700667667Sequence conflictNote=V->L;Ontology_term=ECO:0000305;evidence=ECO:0000305


Top


Expression


check buttonGene expression level across TCGA pancancer
all structure

check buttonGene expression level across GTEx pantissue
all structure

check buttonExpression level of gene isoforms across TCGA pancancer
all structure

check buttonExpression level of gene isoforms across GTEx pantissue
all structure

check buttonCancer(tissue) type-specific expression level of Translation factor using z-score distriution
all structure

check buttonDifferential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)
all structure
Cancer typeTranslation factorFCadj.pval
LUSCSTAT3-1.06169351521342.622390634108e-05
KIRCSTAT3-1.713313616450343.24635122520647e-05


Top


Expression Regulation


check buttonTranslation factor expression regulation through miRNA binding
Cancer typeGenemiRNATargetScan binding score (Context++ score percentile)CoefficientPvalue


check buttonTranslation factor expression regulation through methylation in the promoter of Translation factor
all structure
Cancer typeGenemethyl group bmethyl group aDEG pvalavg methyl in bavg methyl in aavg exp in bavg exp in a
PCPGSTAT3120.03734900501924560.1826834951456310.218736607142857-0.273177153971984-0.1057857184659

check buttonTranslation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)
all structure
Cancer typeGenemethyl group bmethyl group aDEG pvalavg methyl in bavg methyl in aavg exp in bavg exp in a

check buttonTranslation factor expression regulation through copy number variation of Translation factor
all structure
Cancer typeGeneCoefficientPvalue
DLBCSTAT30.0603182320.000368667
OVSTAT3-0.124786940.001723861

Top


Associated Genes


check button Strongly correlated genes belong to cellular important gene groups with STAT3 (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)
all structure
Cancer typeGene groupTranslation factorCorrelated geneCoefficientPvalue
KICHCell metabolism geneSTAT3NPAS20.8006223081.67E-21
KICHCell metabolism geneSTAT3SYNJ20.8062228355.35E-22
KICHCell metabolism geneSTAT3GALNT140.8124376721.45E-22
KICHCell metabolism geneSTAT3PIGS0.8141318481.01E-22
KICHCell metabolism geneSTAT3GYG20.8143830489.54E-23
KICHCell metabolism geneSTAT3HS6ST20.8184302253.93E-23
KICHCell metabolism geneSTAT3LBR0.8240933581.10E-23
KICHCell metabolism geneSTAT3CDK190.8250840478.72E-24
KICHCell metabolism geneSTAT3CP0.834264119.79E-25
KICHCGCSTAT3EPHA70.8016396471.36E-21
KICHCGCSTAT3NOTCH20.8029432381.05E-21
KICHCGCSTAT3PPM1D0.8397585532.48E-25
KICHCGCSTAT3MAML20.8421119941.35E-25
KICHEpifactorSTAT3NPAS20.8006223081.67E-21
KICHEpifactorSTAT3ANP32E0.8181415954.19E-23
KICHEpifactorSTAT3LBR0.8240933581.10E-23
KICHIUPHARSTAT3SLC5A80.8000482481.87E-21
KICHIUPHARSTAT3EPHA70.8016396471.36E-21
KICHIUPHARSTAT3NOTCH20.8029432381.05E-21
KICHIUPHARSTAT3PTH2R0.8036668979.03E-22
KICHIUPHARSTAT3SPNS20.8045027387.61E-22
KICHIUPHARSTAT3PON20.804944076.96E-22
KICHIUPHARSTAT3RIOK10.8056830215.98E-22
KICHIUPHARSTAT3SYNJ20.8062228355.35E-22
KICHIUPHARSTAT3TRIM380.810838612.04E-22
KICHIUPHARSTAT3SLC30A10.8120988521.56E-22
KICHIUPHARSTAT3SLC15A20.8223589721.63E-23
KICHIUPHARSTAT3KCNJ160.8235169471.25E-23
KICHIUPHARSTAT3CDK190.8250840478.72E-24
KICHIUPHARSTAT3LEPR0.8305221642.42E-24
KICHIUPHARSTAT3IL1RL10.8376181714.26E-25
KICHIUPHARSTAT3NEK110.8397445022.49E-25
KICHIUPHARSTAT3PPM1D0.8397585532.48E-25
KICHIUPHARSTAT3HUNK0.859527561.11E-27
KICHKinaseSTAT3EPHA70.8016396471.36E-21
KICHKinaseSTAT3RIOK10.8056830215.98E-22
KICHKinaseSTAT3CDK190.8250840478.72E-24
KICHKinaseSTAT3NEK110.8397445022.49E-25
KICHKinaseSTAT3HUNK0.859527561.11E-27
KICHTFSTAT3NPAS20.8006223081.67E-21
KICHTFSTAT3PKNOX20.8010159671.54E-21
KICHTFSTAT3STAT10.8033398759.65E-22
KICHTFSTAT3GLIS30.8043294467.89E-22
KICHTFSTAT3DZIP10.8061449055.44E-22
KICHTFSTAT3FOXJ10.8379381563.93E-25
KICHTSGSTAT3SLC5A80.8000482481.87E-21
KICHTSGSTAT3NPAS20.8006223081.67E-21
KICHTSGSTAT3ZNF1850.800974481.55E-21
KICHTSGSTAT3NOTCH20.8029432381.05E-21
KICHTSGSTAT3STAT10.8033398759.65E-22
KICHTSGSTAT3STARD130.8203358732.57E-23
KICHTSGSTAT3RASAL10.8251674368.55E-24
KICHTSGSTAT3AKAP120.83319821.27E-24
THYMCell metabolism geneSTAT3CLOCK0.8065156713.65E-29
THYMCell metabolism geneSTAT3B4GALT50.8268672438.86E-32
THYMCGCSTAT3BCL9L0.8046861086.05E-29
THYMCGCSTAT3CLIP10.8437484313.20E-34
THYMCGCSTAT3CTNND10.8517543041.75E-35
THYMEpifactorSTAT3CLOCK0.8065156713.65E-29
THYMIUPHARSTAT3IGF1R0.8033181138.81E-29
THYMIUPHARSTAT3NIPAL10.80435956.62E-29
THYMIUPHARSTAT3CLOCK0.8065156713.65E-29
THYMIUPHARSTAT3TNFRSF10A0.8158727292.51E-30
THYMIUPHARSTAT3CPD0.8187630221.07E-30
THYMIUPHARSTAT3CLCN30.8214523284.74E-31
THYMIUPHARSTAT3SLC39A60.8403910151.03E-33
THYMKinaseSTAT3IGF1R0.8033181138.81E-29
THYMTFSTAT3SKIL0.8004322581.92E-28
THYMTFSTAT3CLOCK0.8065156713.65E-29
THYMTFSTAT3KLF30.8181751141.27E-30
THYMTSGSTAT3SKIL0.8004322581.92E-28
THYMTSGSTAT3TNFRSF10A0.8158727292.51E-30
THYMTSGSTAT3CTNND10.8517543041.75E-35
UCSCell metabolism geneSTAT3CLOCK0.8065156713.65E-29
UCSCell metabolism geneSTAT3B4GALT50.8268672438.86E-32
UCSCGCSTAT3BCL9L0.8046861086.05E-29
UCSCGCSTAT3CLIP10.8437484313.20E-34
UCSCGCSTAT3CTNND10.8517543041.75E-35
UCSEpifactorSTAT3CLOCK0.8065156713.65E-29
UCSIUPHARSTAT3IGF1R0.8033181138.81E-29
UCSIUPHARSTAT3NIPAL10.80435956.62E-29
UCSIUPHARSTAT3CLOCK0.8065156713.65E-29
UCSIUPHARSTAT3TNFRSF10A0.8158727292.51E-30
UCSIUPHARSTAT3CPD0.8187630221.07E-30
UCSIUPHARSTAT3CLCN30.8214523284.74E-31
UCSIUPHARSTAT3SLC39A60.8403910151.03E-33
UCSKinaseSTAT3IGF1R0.8033181138.81E-29
UCSTFSTAT3SKIL0.8004322581.92E-28
UCSTFSTAT3CLOCK0.8065156713.65E-29
UCSTFSTAT3KLF30.8181751141.27E-30
UCSTSGSTAT3SKIL0.8004322581.92E-28
UCSTSGSTAT3TNFRSF10A0.8158727292.51E-30
UCSTSGSTAT3CTNND10.8517543041.75E-35


Top


Protein structure


check button Protein 3D structure
Visit iCn3D.


Top


Protein-Protein Interaction


check button Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))
all structure

check buttonOverlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))
all structure
check button
* Edge colors based on TCGA cancer types.

check button* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))
all structure
Cancer typeTranslation factorInteracting protein coding geneFCadj.pval
LUSCSTAT3EGFR1.327571383914170.000102202753672845
PRADSTAT3JAK11.852371674228250.00022175071084056
LUADSTAT3JAK1-1.41679010123880.000235424671498292
LIHCSTAT3HSP90AA1-1.871377396719020.0003817245773207
KICHSTAT3HIF1A-1.372045678540150.000808119773864746
THCASTAT3EP300-1.563081890396030.00135477973345976
ESCASTAT3SRC1.00773005241180.001953125
PRADSTAT3EP3001.280011207376240.00383473418852013
CHOLSTAT3PIAS3-4.683009908000950.00390625
LIHCSTAT3EGFR-1.22305380940170.00496795806084514
KICHSTAT3NANOG1.355003975860690.00672554969787598
UCECSTAT3PIAS31.893976928592720.015625
CHOLSTAT3HIF1A-2.151346096386550.01953125
STADSTAT3NANOG-3.949003254892340.028887763494347
ESCASTAT3HSP90AA1-2.954078329285750.0322265625
KIRPSTAT3EGFR1.140563999273750.0394268441013992
BRCASTAT3IL10RA-6.704055512456830.0429298907878524
UCECSTAT3IL10RA1.139995422183570.046875
BRCASTAT3HSP90AA12.19782205770151.13731762084626e-08
LUADSTAT3JAK2-2.211449635133511.81564382258596e-08
BRCASTAT3JAK1-1.068593733614352.00793019695415e-13
KIRCSTAT3EGFR1.558363839377992.25998111659284e-12
HNSCSTAT3HIF1A2.273445012871382.8792055672966e-07
STADSTAT3HSP90AA1-1.657051254302853.51201742887497e-06
THCASTAT3PIAS3-1.784002019868444.34082003868401e-07
LUSCSTAT3IL10RA-2.735798422717284.80668566889666e-09
BRCASTAT3PIAS31.408459376143585.00655344603267e-10
LUSCSTAT3JAK2-5.596570059913745.37960113528451e-09
STADSTAT3SRC1.292685902678356.0301274061203e-05
KICHSTAT3PIAS31.112567738247526.36577606201172e-05
BRCASTAT3SRC-1.013896088457997.35163663752073e-11


check button Protein-protein interactors with this translation factor (BIOGRID-3.4.160)
PPI interactors with STAT3
RPA2, RET, EGFR, EPHA5, JAK1, TRIP10, AR, NR3C1, MYOD1, NDUFA13, KAT5, CREBBP, EP300, SMAD1, STAT1, PTPN11, IL1RAP, IL2RB, FES, NCOA1, ESR1, PIAS3, PTPN2, CCND1, HSP90AA1, KHDRBS1, ERBB2, MTOR, ELP2, PML, PTK2, JUN, IFNAR1, TSHR, HNF1A, IL6ST, PDIA3, NFKB1, RELA, IL6R, NMI, EIF2AK2, RAC1, SRC, BMX, GTF2I, CDKN1A, GHR, CCR5, JAK2, HIF1A, MET, CTR9, ALK, HOXC11, STAT6, SS18L1, PCBD2, SP1, BCL3, PELP1, DNMT1, HDAC1, RB1, HDAC2, HDAC3, STAT3, NFKBIZ, CEBPB, SMARCA4, CDK9, FGFR1, FGFR2, PPP2R1B, TIRAP, PRKCD, MAPK8, UL27, PGR, SIRT1, SETD7, KDM1A, RUNX2, ELAVL1, BHLHE40, CD44, DAXX, SOCS7, IRAK1, MAP3K7, MAPK1, FHL2, TRAF6, ZFHX3, APEX1, PTPN1, HCVgp1, JAK3, TRIM28, HCK, LYN, FYN, FGR, HES1, HES5, SIN3A, BICD1, ECH1, SRI, SULT2A1, MRPS31, BCKDK, CORO1A, GNL3, OGDHL, NR4A1, CAPN1, MORC4, RPS9, HIVEP1, ASXL1, RPL11, NIF3L1, SUPT20H, HLA-A, AMBP, CAPNS1, LAMB2, HNRNPM, SIAH1, SIAH2, SCAF11, MAP3K13, SPRY1, SSSCA1, ZFPM2, ARFIP2, SRRT, ERBB2IP, IL22RA1, CEP120, BMH1, LUC7L2, PSMG3, ARFIP1, IVNS1ABP, MSH2, PUS7, TBC1D15, TBCD, BRD4, ADRB2, COPS5, HIC1, USP22, GNB2, GADD45A, BLK, LMO2, SYK, SHMT2, MOV10, NXF1, NFKB2, AZU1, CACNG2, NXPH2, DDX19B, RP2, TRPV5, TCEAL1, IDE, NTRK1, BRWD1, FAM208B, CCDC87, DOK2, DOK3, FAM117B, GSTCD, HESX1, KRTAP10-7, MAPKAPK2, MPZL1, NUFIP2, PAQR7, PIK3R3, RABGAP1, SH2D2A, TM4SF19, TWIST1, VPS39, WDFY3, ZNF281, ZNF829, ABL2, CA8, CBL, DTNA, LASP1, LCK, PIK3R1, PIK3R2, PPARD, SH3BP2, BATF3, CHTF18, CNDP2, KLF15, NACAD, NXT2, OFCC1, PINK1, TDG, ZNF557, ATF3, MNDA, PAFAH1B2, IGF1R, PDGFRA, PDGFRB, STAT5B, ANKRD26P1, KIF27, PLA2G4A, LRRFIP2, HSP90B1, RRAD, FBXW7, STMN1, MAGEC2, RFWD2, CREB1, RELB, CDK15, LRRC32, IL20RA, TBC1D22B, TMEM206, MBLAC2, VASN, C3AR1, PVR, DLK2, ANXA2, TRIM25, TES, HDAC6, PPP2R4, CA9, VEGFA, PGK1, EFTUD2, AAR2, PIH1D1, RNF4, vif, ESR2, TRIM11, TRIM24, MYOF, MMP1, MMP2, KAT2B, GOLPH3, OCIAD1, OCIAD2, KRT17, KIAA1429, CSF2RB, ZC3H7A, TRIM59, NR2C2, USP28, GBF1, BICD2, BMH2, TMUB1, DUT, WWP2, ORF3a, IMPDH2, POM121, MEG3, PLEKHA4, GLI1, PTCH1, RRAS2, CEP70, UPF3A, HSPB1, SOCS3, TNFAIP3, HSCB, CIT, CHMP4B, IL22RA2, MYC, BCAR1, M, nsp1ab, NPC1, GAS5, EIF3F, VHL, CUL4A, HIF1AN, POU2F1, TAB3, ATG5, TP53, NFE2L2, NAA40, COMP, GYPA, SPSB4, HECTD1, OR2A4, PPP2R2B, SEMA4C, STX17, RNF115, C18orf21, METTL21B, SARAF, PRTN3, PHF11, MBNL1, AGPAT1, ETNK2, SSBP2, CCR1, GPR45, PIGT, C1orf35, SSUH2, MARCH8, MAP2K3, MDM2, OPTN, RPS6KA1, RPS6KA3, RPRD1B, KAT2A, UBE2I, SH3KBP1, COPE, SRP72, RGPD1, ATP2A2, COPB2, NUP62, COPB1, COPA, TPGS1, LRRC49, FAM101B, ARFGAP1, RAD50, HAUS4, LARS, RB1CC1, BANF1, GLUD1, LGALS3BP, SYNE2, SLC25A36, HNRNPUL1,


Top


Mutations


check button Clinically associated variants from ClinVar.
GeneChrPositionRefSeqVarSeqRefSeeqVarTypePathogenicDiseaseVarInfo
STAT3chr1740465418AAGADeletionUncertain_significanceHyper-IgE_syndromeSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740465419AGADeletionUncertain_significanceHyper-IgE_syndromeSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740465422CCADuplicationUncertain_significanceHyper-IgE_syndromeSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740465508CAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740465616TCsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740465619GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740465761CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740465793TCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740465832TCsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740465872GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740465910TCsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740465913GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740465913GCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466088AGsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466090GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466092GAsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466118GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466246CTsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466266CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466348GCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466380CGsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466438TCsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466447TCsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466493GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466497CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466567AGsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466638CTsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466681CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466752TCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466868TCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466868TCTDeletionUncertain_significanceHyper-IgE_syndromeSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740466869CCTDuplicationUncertain_significanceHyper-IgE_syndromeSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740467033CTsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740467094GAsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740467117AGsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740467155TCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740467156GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740467169CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740467179ACsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740467181TAsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740467361CTsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740467409GAACGMicrosatelliteLikely_benignHyper-IgE_syndromeSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740467498AACDuplicationLikely_benignHyper-IgE_syndromeSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740467503CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740467552TGsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740467598ACsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740467732GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_variant
STAT3chr1740467773GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variant,SO:0001624|3_prime_UTR_variantSO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant
STAT3chr1740467775GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variantSO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant
STAT3chr1740467778AGsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variantSO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant
STAT3chr1740467780CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001583|missense_variant,SO:0001624|3_prime_UTR_variantSO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant
STAT3chr1740467781GAsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variantSO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant
STAT3chr1740467788GAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specified|not_providedSO:0001583|missense_variant,SO:0001624|3_prime_UTR_variantSO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant
STAT3chr1740467795AGsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specifiedSO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variantSO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant
STAT3chr1740467805ACsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variant,SO:0001624|3_prime_UTR_variantSO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant
STAT3chr1740467999GTsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740468489GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740468776TCsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740468816CGsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001624|3_prime_UTR_variantSO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant
STAT3chr1740468836CAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Autoimmune_disease,_multisystem,_infantile-onset,_1|STAT3_gain_of_function|not_providedSO:0001583|missense_variant,SO:0001624|3_prime_UTR_variantSO:0001583|missense_variant,SO:0001624|3_prime_UTR_variant
STAT3chr1740468841AGsingle_nucleotide_variantUncertain_significancenot_providedSO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variantSO:0001819|synonymous_variant,SO:0001624|3_prime_UTR_variant
STAT3chr1740468848TCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001583|missense_variant,SO:0001819|synonymous_variantSO:0001583|missense_variant,SO:0001819|synonymous_variant
STAT3chr1740468917GAsingle_nucleotide_variantPathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Autoimmune_disease,_multisystem,_infantile-onset,_1|STAT3_gain_of_function|not_providedSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740468923TTADuplicationLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740469126AGsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740469180GAsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specified|not_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740469199CTsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001575|splice_donor_variant,SO:0001627|intron_variantSO:0001575|splice_donor_variant,SO:0001627|intron_variant
STAT3chr1740469200GAsingle_nucleotide_variantPathogenic/Likely_pathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Inherited_Immunodeficiency_Diseases|Inborn_genetic_diseases|STAT3_gain_of_function|not_providedSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740469203GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740469206AGsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740469210AGsingle_nucleotide_variantLikely_pathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740469212ACsingle_nucleotide_variantLikely_pathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740469213TCsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740469219TCsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740469225TCsingle_nucleotide_variantLikely_pathogenicInherited_Immunodeficiency_DiseasesSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740469227AGsingle_nucleotide_variantPathogenic/Likely_pathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740469231AGsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740469237CTsingle_nucleotide_variantPathogenicAutoimmune_disease,_multisystem,_infantile-onset,_1SO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740469240CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740469321CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740474310ATsingle_nucleotide_variantBenign/Likely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740474319ATsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specifiedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474337CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740474351CGsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474352GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740474386TCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474408TAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474413GAsingle_nucleotide_variantPathogenic/Likely_pathogenicAutoimmune_disease,_multisystem,_infantile-onset,_1|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474419TAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474420CAsingle_nucleotide_variantUncertain_significancenot_specifiedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474422AGsingle_nucleotide_variantPathogenic/Likely_pathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Hyper-IgE_syndrome|STAT3_gain_of_function|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474425ATsingle_nucleotide_variantLikely_pathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474427CAsingle_nucleotide_variantLikely_pathogenicAutoimmune_disease,_multisystem,_infantile-onset,_1SO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474427CGsingle_nucleotide_variantPathogenicAutoimmune_disease,_multisystem,_infantile-onset,_1SO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474428TCsingle_nucleotide_variantLikely_pathogenicAutoimmune_disease,_multisystem,_infantile-onset,_1SO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474429TTATADuplicationUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001821|inframe_insertionSO:0001821|inframe_insertion
STAT3chr1740474430ATACTGIndelLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474431TCsingle_nucleotide_variantLikely_pathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474438TAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474458ATsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474461TAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicitynot_specified|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474463GCsingle_nucleotide_variantPathogenicAutoimmune_disease,_multisystem,_infantile-onset,_1SO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474467AGCTAMicrosatelliteUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001822|inframe_deletionSO:0001822|inframe_deletion
STAT3chr1740474477TCsingle_nucleotide_variantLikely_pathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474481GTAAIndelUncertain_significancenot_specifiedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474482TAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specified|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474484TCsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740474492CTsingle_nucleotide_variantPathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Hyper-IgE_syndrome|STAT3_gain_of_function|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474495AGsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474496CGsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740474817TCsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740474864AGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740474880GCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740475013CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740475015CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740475016CTsingle_nucleotide_variantLikely_benignnot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740475032CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740475042CAsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475047GCsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475047GTsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475051GAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475051GCsingle_nucleotide_variantPathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475056GAsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740475057CTsingle_nucleotide_variantPathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475058CGsingle_nucleotide_variantUncertain_significancenot_specifiedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475063TCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475064CGsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475067TCsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475070TCsingle_nucleotide_variantPathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475070TGsingle_nucleotide_variantUncertain_significancenot_specifiedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475079TCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475083TAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475108TGsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475130CTsingle_nucleotide_variantLikely_pathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475134CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740475138TAsingle_nucleotide_variantLikely_pathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475153AGsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475173GCsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740475282CTsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740475283GAsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
STAT3chr1740475327TCsingle_nucleotide_variantLikely_pathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475346GAsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740475383GCsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740475608AGsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740475650GGADuplicationBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Hyper-IgE_syndrome|STAT3_gain_of_function|not_specified|not_provided
STAT3chr1740475650GGCInsertionLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740475713AACAMicrosatelliteConflicting_interpretations_of_pathogenicityHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|not_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740476538CTsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740476567CTsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740476667CGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740476718GAsingle_nucleotide_variantLikely_benignnot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740476724CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740476767CTsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740476789ATsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740476793GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740476810CAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specifiedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740476813CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740476837TCsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740476862ATsingle_nucleotide_variantUncertain_significanceAdenoid_cystic_carcinomaSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740476946TAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740477008CAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740477017GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740477031TCsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740477048TCsingle_nucleotide_variantPathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740477048TGsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740477052ACsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740477055TCACTMicrosatellitePathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|not_providedSO:0001822|inframe_deletionSO:0001822|inframe_deletion
STAT3chr1740477064CGsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specified|none_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740477065TCsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740477068CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740477083CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740477083CGGAGGGAGTGGCDeletionUncertain_significancenot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740477088GAsingle_nucleotide_variantLikely_benignnot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740477090AGsingle_nucleotide_variantLikely_benignnot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740477099TCsingle_nucleotide_variantUncertain_significancenot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740477987AATDuplicationConflicting_interpretations_of_pathogenicityHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|not_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740477987ATTTTADeletionBenign/Likely_benignnot_specified|not_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740478126GCsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740478138AGsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740478151GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740478170GAsingle_nucleotide_variantBenign/Likely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specifiedSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
STAT3chr1740478171GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740478188GTsingle_nucleotide_variantPathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740478189TAsingle_nucleotide_variantLikely_pathogenicAutoimmune_disease,_multisystem,_infantile-onset,_1SO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740478196CTsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740478227CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740478238CTsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740478310GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740478379ATsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740478470GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740481170ATsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740481394ACADeletionBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740481417AGsingle_nucleotide_variantLikely_benignnot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740481441CTsingle_nucleotide_variantPathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Autoimmune_disease,_multisystem,_infantile-onset,_1SO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481445CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481446CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740481448CTsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Autoimmune_disease,_multisystem,_infantile-onset,_1|STAT3_gain_of_function|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481449ACsingle_nucleotide_variantPathogenicAutoimmune_disease,_multisystem,_infantile-onset,_1SO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481454CTsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481460TCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481466CTsingle_nucleotide_variantPathogenic/Likely_pathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Autoimmune_disease,_multisystem,_infantile-onset,_1SO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481468CGsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481472GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740481475TAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Hyper-IgE_syndrome|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481475TCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481478GGTDuplicationBenign/Likely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740481482GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740481529GCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740481552GAsingle_nucleotide_variantLikely_benignnot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740481553GAsingle_nucleotide_variantUncertain_significanceAutoimmune_disease,_multisystem,_infantile-onset,_1SO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740481575GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740481575GCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481576TCsingle_nucleotide_variantUncertain_significancenot_specifiedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481577GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481602GAsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740481606TAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481623CTsingle_nucleotide_variantLikely_pathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481628CAsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481630TCsingle_nucleotide_variantPathogenicAutoimmune_disease,_multisystem,_infantile-onset,_1SO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481639GAsingle_nucleotide_variantPathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481640TCsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481660CAsingle_nucleotide_variantPathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481660CTsingle_nucleotide_variantPathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Inherited_Immunodeficiency_Diseases|STAT3_gain_of_function|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481661GAsingle_nucleotide_variantPathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481662GCsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740481667TGsingle_nucleotide_variantnot_providednot_providedSO:0001574|splice_acceptor_variantSO:0001574|splice_acceptor_variant
STAT3chr1740481764CAsingle_nucleotide_variantPathogenicnot_providedSO:0001575|splice_donor_variantSO:0001575|splice_donor_variant
STAT3chr1740481775CTsingle_nucleotide_variantUncertain_significanceAutoimmune_disease,_multisystem,_infantile-onset,_1SO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481781CTsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481782GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740481784CAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740481788AGsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740481791GTCGMicrosatelliteUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001589|frameshift_variantSO:0001589|frameshift_variant
STAT3chr1740481791GTCTCGDeletionPathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001574|splice_acceptor_variantSO:0001574|splice_acceptor_variant
STAT3chr1740481795CTsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001574|splice_acceptor_variant,SO:0001583|missense_variantSO:0001574|splice_acceptor_variant,SO:0001583|missense_variant
STAT3chr1740481800AGsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
STAT3chr1740481802AACAMicrosatelliteUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001589|frameshift_variant,SO:0001627|intron_variantSO:0001589|frameshift_variant,SO:0001627|intron_variant
STAT3chr1740483403CTsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740483466CAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740483477TCsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740483498GCsingle_nucleotide_variantUncertain_significanceHyper-IgE_syndromeSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740483515GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740483533GTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740483535ACsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740483540GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
STAT3chr1740483542CAsingle_nucleotide_variantPathogenicAutoimmune_disease,_multisystem,_infantile-onset,_1SO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740483549CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740485239GTsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740485691CAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740485708CGsingle_nucleotide_variantPathogenicAutoimmune_disease,_multisystem,_infantile-onset,_1SO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740485718GAsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740485729GAsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740485737GAsingle_nucleotide_variantLikely_pathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740485748ACsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740485750GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740485754ACsingle_nucleotide_variantUncertain_significanceInherited_Immunodeficiency_DiseasesSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740485754ATsingle_nucleotide_variantLikely_pathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740485767GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740485789GAGDeletionLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740485960CTsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740485986GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740485990GCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740485991ATsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740485995TAsingle_nucleotide_variantUncertain_significanceInherited_Immunodeficiency_DiseasesSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740486032CTsingle_nucleotide_variantLikely_pathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740486033GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740486040ACsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740486053GAsingle_nucleotide_variantUncertain_significanceInherited_Immunodeficiency_DiseasesSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740486061CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740486070GCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740486318ATsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740489268GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740489297GTsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740489465CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740489471AGsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740489474CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740489488GCsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740489537TCGTCTDeletionPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
STAT3chr1740489539GAsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740489542CGsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740489560GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740489569CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740489593AGsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740489599GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740489611GAsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740489622CTsingle_nucleotide_variantLikely_benignnot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740489741GCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740489766GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740489799CGsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740489799CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740489800GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740489808CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740489821TCsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740489845GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740489874GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740489876CTsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001574|splice_acceptor_variantSO:0001574|splice_acceptor_variant
STAT3chr1740489879CAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740489879CTsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740489880GAsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740489892AACTCCTTGACCTGAGGGAATAMicrosatelliteLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740489892AACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATAMicrosatelliteLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740489892AACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATACTCCTGGACCTGAGGGAATADeletionBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740489899TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGTDeletionLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740489919TGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740489939TGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740489959GTsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740490499GTsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740490519TGsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740490519TGACCTGAGGGAATACTCCTTGACCTGAGGGAATACTCCTGTDeletionBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740490539TGsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740490559GTsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740490762GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740490776TGsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740490786GAsingle_nucleotide_variantBenignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740490801CGsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740490824CTsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740490859GAAGTAGDeletionConflicting_interpretations_of_pathogenicityHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|not_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740491131GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740491135GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740491273CCADuplicationBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740491273CACDeletionLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740491329CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740491335CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
STAT3chr1740491340TCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740491346GAsingle_nucleotide_variantPathogenicHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Autoimmune_disease,_multisystem,_infantile-onset,_1|STAT3_gain_of_functionSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740491374CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
STAT3chr1740491386CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
STAT3chr1740491394CAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740491395GAsingle_nucleotide_variantBenign/Likely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
STAT3chr1740491415CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740491423CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740491425TCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740491427GCsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|Autoimmune_disease,_multisystem,_infantile-onset,_1|STAT3_gain_of_function|not_providedSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740491431CGsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740491432CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740491680CGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740497421CCTDuplicationBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740497567CGsingle_nucleotide_variantUncertain_significancenot_specifiedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740497581GAsingle_nucleotide_variantUncertain_significancenot_specifiedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740497583CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740497584GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740497622CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
STAT3chr1740497637AGsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
STAT3chr1740497638AGsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740497640CGsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
STAT3chr1740497642GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variant,SO:0001627|intron_variantSO:0001583|missense_variant,SO:0001627|intron_variant
STAT3chr1740497646AGsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
STAT3chr1740497649CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001819|synonymous_variant,SO:0001627|intron_variantSO:0001819|synonymous_variant,SO:0001627|intron_variant
STAT3chr1740497668TCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740497678AGsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740497683TAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740497803GCsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740497828CTsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740497835CGsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740497839GCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740497840GAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740497893CCTDuplicationBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740497893CCTTDuplicationBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740497893CCTTTDuplicationBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740498273TCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740498324CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740498442AGsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740498565TCsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740498610GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001587|nonsenseSO:0001587|nonsense
STAT3chr1740498611TCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740498613GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740498635CTsingle_nucleotide_variantBenign/Likely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_specifiedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740498665GTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740498722CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740498735GCsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740498744AGsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740498944TCsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740498981CTsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740500265CAsingle_nucleotide_variantBenignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740500343AGsingle_nucleotide_variantLikely_benignnot_providedSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740500387GAsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001627|intron_variantSO:0001627|intron_variant
STAT3chr1740500432CAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740500453TCsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740500465CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740500484CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740500497CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_function|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
STAT3chr1740500508CTsingle_nucleotide_variantLikely_benignHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|STAT3_gain_of_functionSO:0001819|synonymous_variantSO:0001819|synonymous_variant
STAT3chr1740540328GCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001623|5_prime_UTR_variantSO:0001623|5_prime_UTR_variant
STAT3chr1740540342GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001623|5_prime_UTR_variantSO:0001623|5_prime_UTR_variant
STAT3chr1740540412CTsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001623|5_prime_UTR_variantSO:0001623|5_prime_UTR_variant
STAT3chr1740540413GAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|not_providedSO:0001623|5_prime_UTR_variantSO:0001623|5_prime_UTR_variant
STAT3chr1740540430TCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001623|5_prime_UTR_variantSO:0001623|5_prime_UTR_variant
STAT3chr1740540435TCsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0001623|5_prime_UTR_variantSO:0001623|5_prime_UTR_variant
STAT3chr1740540468CGsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominant|not_providedSO:0002153|genic_upstream_transcript_variantSO:0002153|genic_upstream_transcript_variant
STAT3chr1740540484CAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0002153|genic_upstream_transcript_variantSO:0002153|genic_upstream_transcript_variant
STAT3chr1740540499GAsingle_nucleotide_variantUncertain_significanceHyper-IgE_recurrent_infection_syndrome_1,_autosomal_dominantSO:0002153|genic_upstream_transcript_variantSO:0002153|genic_upstream_transcript_variant


check button nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.
all structure


check button SNVs and Indels
GeneCancer typeChromosomeStartEndRefSeeqMutSeqMutation typeAAchange# samples
STAT3PRADchr174048165340481653ACMissense_Mutationp.F384L4
STAT3BRCAchr174046887740468877GASilentp.R7294
STAT3LUADchr174048349440483494CTMissense_Mutationp.D369N4
STAT3DLBCchr174047448240474482TAMissense_Mutationp.Y640F4
STAT3CESCchr174050048140500481GCSilent4
STAT3ESCAchr174048574040485740CAMissense_Mutationp.D334Y3
STAT3UCSchr174048987640489876C-Splice_Site3
STAT3DLBCchr174047441940474419TAMissense_Mutationp.D661V3
STAT3LIHCchr174048157640481576TCMissense_Mutationp.H410R3
STAT3SKCMchr174047681340476813CTMissense_Mutationp.E506K3
STAT3HNSCchr174048603340486033GAMissense_Mutationp.R278C3
STAT3PAADchr174046890840468908CTMissense_Mutationp.S719N3
STAT3BRCAchr174048144140481441CTMissense_Mutationp.R423Q3
STAT3PRADchr174047444840474448AGSilentp.A651A3
STAT3BLCAchr174047699640476996CTSilentp.L483L3
STAT3UCECchr174049863540498635CTSilentp.S752
STAT3DLBCchr174048574640485746GAMissense_Mutationp.H332Y2
STAT3LIHCchr174048157640481576TCMissense_Mutation2
STAT3PRADchr174047448540474485GAMissense_Mutationp.P639L2
STAT3UCECchr174047447740474477TCMissense_Mutationp.K642E2
STAT3SKCMchr174049861740498617GASilentp.H81H2
STAT3UCECchr174050047140500471AGMissense_Mutationp.Y22H2
STAT3BLCAchr174048604540486045GCMissense_Mutationp.Q274E2
STAT3LIHCchr174047448240474482TAMissense_Mutation2
STAT3UCECchr174047513340475133GAMissense_Mutationp.R593W2
STAT3SKCMchr174049861840498618TAMissense_Mutationp.H81L2
STAT3ESCAchr174048574040485740CAMissense_Mutation2
STAT3TGCTchr174050047440500474GCMissense_Mutation2
STAT3UCECchr174047532240475322GTSilentp.I5682
STAT3CESCchr174050048140500481GCSilentp.L182
STAT3LUADchr174046891640468916CGSilentp.T716T2
STAT3LGGchr174050044340500443CTMissense_Mutationp.R31Q2
STAT3DLBCchr174047506140475063CTT-In_Frame_Delp.616_617del2
STAT3BRCAchr174048165440481654ATMissense_Mutationp.F384Y2
STAT3LIHCchr174050045240500452ATMissense_Mutationp.M28K2
STAT3SKCMchr174047684840476848GAMissense_Mutationp.T494I2
STAT3TGCTchr174050047440500474GCMissense_Mutationp.L21V2
STAT3UCECchr174047684240476842GAMissense_Mutationp.P496L2
STAT3COADchr174046887940468879G-Frame_Shift_Delp.R728fs2
STAT3STADchr174048955440489554CAMissense_Mutation2
STAT3BRCAchr174049758540497585CTMissense_Mutationp.A122T2
STAT3ESCAchr174048349240483492GASilent2
STAT3LIHCchr174048599540485995T-Frame_Shift_Delp.K290fs2
STAT3SKCMchr174047529840475298GASilentp.I576I2
STAT3UCECchr174047686540476865CASplice_Sitee16-12
STAT3LGGchr174050044340500443CTMissense_Mutation2
STAT3PAADchr174046890840468908CTMissense_Mutation2
STAT3STADchr174048955440489554CAMissense_Mutationp.Q232H2
STAT3ESCAchr174049133540491335CASilent2
STAT3SARCchr174047509840475098GTSilent2
STAT3SKCMchr174048979340489793GASilentp.D211D2
STAT3UCECchr174048143640481436TCMissense_Mutationp.N425D2
STAT3STADchr174048952840489528GTMissense_Mutationp.A241D2
STAT3ESCAchr174049133540491335CASilentp.V155V2
STAT3SKCMchr174048591940485919ATMissense_Mutationp.L316I2
STAT3UCECchr174048575640485756GASilentp.C3282
STAT3HNSCchr174048596940485969AGMissense_Mutationp.V299A2
STAT3PCPGchr174047818040478180GAMissense_Mutationp.T440I2
STAT3STADchr174046778740467787CTSilentp.S763S2
STAT3CESCchr174047506440475064CTMissense_Mutation2
STAT3SKCMchr174047450640474506GAMissense_Mutationp.T632I2
STAT3UCECchr174048979940489799CTSilentp.A2092
STAT3LUADchr174049075440490754TCMissense_Mutationp.Q182R2
STAT3LIHCchr174050045240500452ATMissense_Mutation2
STAT3STADchr174047448140474481GASilentp.Y640Y2
STAT3ESCAchr174048349240483492GASilentp.D369D2
STAT3SKCMchr174047529140475291GAMissense_Mutationp.L579F2
STAT3UCECchr174049766640497666GAMissense_Mutationp.L95F2
STAT3KIRCchr174047679040476790GASilentp.S513S2
STAT3ESCAchr174047507840475078CTMissense_Mutationp.S611N2
STAT3PRADchr174047703140477031TCMissense_Mutationp.N472D2
STAT3STADchr174047444040474440AGMissense_Mutationp.I654T2
STAT3SKCMchr174047448940474489CTMissense_Mutationp.E638K2
STAT3UCECchr174046924140469241GASilentp.S7012
STAT3UCECchr174049861040498610GANonsense_Mutationp.R84*2
STAT3PRADchr174047508440475084CGMissense_Mutationp.R609T2
STAT3CESCchr174047506440475064CTMissense_Mutationp.E616K2
STAT3SKCMchr174048178240481782GASilentp.D374D2
STAT3UCECchr174047437840474378GAMissense_Mutationp.P675S2
STAT3SKCMchr174047435240474352GASilentp.F683F1
STAT3BLCAchr174048958440489584CASilent1
STAT3KIRPchr174048178540481785CTSilentp.G373G1
STAT3LUADchr174049873040498730CTMissense_Mutationp.A44T1
STAT3BLCAchr174047816940478169CTMissense_Mutationp.E444K1
STAT3STADchr174047442040474420CAMissense_Mutationp.D661Y1
STAT3CESCchr174046776440467764CGNonstop_Mutation1
STAT3HNSCchr174047441940474419TAMissense_Mutation1
STAT3LUADchr174047445640474456AGMissense_Mutationp.S649P1
STAT3SKCMchr174046777140467771GAMissense_Mutationp.P769S1
STAT3KIRPchr174048178640481786CAMissense_Mutationp.G373V1
STAT3LUADchr174048157340481573A-Frame_Shift_Delp.L411fs1
STAT3SKCMchr174048573540485735CTSilentp.R335R1
STAT3BLCAchr174048159140481591GAMissense_Mutation1
STAT3DLBCchr174049863540498635CTSilentp.S75S1
STAT3ESCAchr174049133540491335CASilentp.V1551
STAT3PRADchr174048597940485979CAMissense_Mutationp.D296Y1
STAT3STADchr174047507040475070TGMissense_Mutationp.S614R1
STAT3SKCMchr174048590940485909CTSplice_Sitep.S319_splice1
STAT3CESCchr174046776440467764CGNonstop_Mutationp.*771S1
STAT3HNSCchr174048603340486033GAMissense_Mutation1
STAT3LUADchr174047674840476748TASilentp.T527T1
STAT3KIRPchr174048178640481786CAMissense_Mutation1
STAT3LUSCchr174047435240474352GTMissense_Mutationp.F683L1
STAT3SKCMchr174049760240497602AGMissense_Mutationp.L116P1
STAT3BLCAchr174049134640491346GAMissense_Mutation1
STAT3BLCAchr174047819640478196CTMissense_Mutationp.E435K1
STAT3PRADchr174047677740476777GANonsense_Mutationp.R518*1
STAT3SKCMchr174049862240498622GANonsense_Mutationp.Q80*1
STAT3HNSCchr174048160440481604TCMissense_Mutation1
STAT3LUSCchr174047445540474455GCNonsense_Mutationp.S649*1
STAT3SKCMchr174050049640500496CTSilentp.R13R1
STAT3UCSchr174048165340481653ACMissense_Mutation1
STAT3BLCAchr174047699640476996CTSilent1
STAT3ESCAchr174047507840475078CTMissense_Mutation1
STAT3PRADchr174048145440481454CAMissense_Mutationp.G419W1
STAT3HNSCchr174048596940485969AGMissense_Mutation1
STAT3LUADchr174048142940481429TCSplice_Sitep.D427_splice1
STAT3LGGchr174050046140500461CAMissense_Mutationp.S25I1
STAT3OVchr174049870240498702GCMissense_Mutationp.A53G1
STAT3UCSchr174048987640489876C-Frame_Shift_Delp.D184fs1
STAT3BLCAchr174047816940478169CTMissense_Mutation1
STAT3DLBCchr174047506840475068GCMissense_Mutationp.S614R1
STAT3THYMchr174047562240475622CTMissense_Mutation1
STAT3SKCMchr174047534640475346GASilentp.S560S1
STAT3COADchr174047686640476866TGSplice_Site.1
STAT3HNSCchr174047678840476788GTMissense_Mutation1
STAT3LUADchr174048590840485908CGSplice_Site1
STAT3BLCAchr174047681340476813CTMissense_Mutation1
STAT3DLBCchr174047533040475330CAMissense_Mutationp.D566Y1
STAT3LIHCchr174048144440481444C-Frame_Shift_Delp.G422fs1
STAT3THYMchr174047562240475622CTMissense_Mutationp.G541E1
STAT3SKCMchr174048354340483543CASilentp.L352L1
STAT3COADchr174048158840481588GAMissense_Mutationp.A406V1
STAT3HNSCchr174049075140490751CTMissense_Mutation1
STAT3HNSCchr174049075140490751CTMissense_Mutationp.G183E1
STAT3LGGchr174046889440468894GTMissense_Mutation1
STAT3BLCAchr174048604540486045GCMissense_Mutation1
STAT3DLBCchr174047447040474470TCMissense_Mutationp.Q644R1
STAT3LIHCchr174048597940485979C-Frame_Shift_Delp.D296fs1
STAT3SARCchr174047681540476815GTMissense_Mutation1
STAT3UCECchr174048575640485756GASilentp.C328C1
STAT3SKCMchr174047436940474369GAMissense_Mutationp.P678S1
STAT3COADchr174048593840485938GASilentp.I309I1
STAT3HNSCchr174047678840476788GTMissense_Mutationp.S514Y1
STAT3LUADchr174047440640474406GASilentp.I665I1
STAT3LIHCchr174047563140475631TCMissense_Mutation1
STAT3BLCAchr174049858640498587--Frame_Shift_Ins1
STAT3ESCAchr174048166140481661GTSilentp.R382R1
STAT3LIHCchr174047530540475305T-Frame_Shift_Delp.K574fs1
STAT3SARCchr174048573140485731GTMissense_Mutation1
STAT3UCECchr174048979940489799CTSilentp.A209A1
STAT3SKCMchr174047436840474368GAMissense_Mutationp.P678L1
STAT3COADchr174048595740485957GAMissense_Mutationp.P303L1
STAT3HNSCchr174048160440481604TCMissense_Mutationp.N401D1
STAT3KIRCchr174048598840485988ATMissense_Mutationp.Y293N1
STAT3BLCAchr174048159140481591GAMissense_Mutationp.S405F1
STAT3DLBCchr174047506340475063TCMissense_Mutationp.E616G1
STAT3LIHCchr174050042840500428G-Frame_Shift_Delp.P36fs1
STAT3SARCchr174049870040498700TAMissense_Mutation1
STAT3UCECchr174049142040491420C-Frame_Shift_Delp.G127fs1
STAT3SKCMchr174047818240478182GASilentp.I439I1
STAT3COADchr174049859240498592GTMissense_Mutationp.L90I1
STAT3LUADchr174048163240481633TG-Frame_Shift_Delp.T391fs1
STAT3LIHCchr174048166540481665TCSilent1
STAT3BLCAchr174049134640491346GAMissense_Mutationp.R152W1
STAT3CESCchr174047448540474485GTMissense_Mutation1
STAT3GBMchr174047447940474479GAMissense_Mutationp.T641I1
STAT3LIHCchr174048164240481642C-Frame_Shift_Delp.G388fs1
STAT3SARCchr174047675640476756GTMissense_Mutation1
STAT3SKCMchr174048353340483533GAMissense_Mutationp.P356S1
STAT3COADchr174049872340498723GAMissense_Mutationp.A46V1
STAT3KIRCchr174046889040468890GAMissense_Mutationp.P725L1
STAT3LUADchr174048157340481573A-Splice_Sitep.L411_splice1
STAT3ESCAchr174048349240483492GASilentp.D3691
STAT3LIHCchr174047817240478172TCMissense_Mutation1
STAT3STADchr174047675340476753TCMissense_Mutationp.T526A1
STAT3GBMchr174047447940474479GAMissense_Mutation1
STAT3LUADchr174049133740491337CTMissense_Mutationp.V155M1
STAT3SKCMchr174049862240498622GANonsense_Mutationp.Q80X1

check buttonCopy number variation (CNV) of STAT3
* Click on the image to open the original image in a new window.
all structure

check buttonFusion gene breakpoints (product of the structural variants (SVs)) across STAT3
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


check button Fusion genes with this translation factor from FusionGDB2.0.
FusionGDB2 IDDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
96866ESCATCGA-L5-A8NH-01AATP6V0A1chr1740666478+STAT3chr1740498731-
96866COADTCGA-G4-6317EPB41L2chr6131384294-STAT3chr1740474512-
96866COADTCGA-G4-6317-02AEPB41L2chr6131384282-STAT3chr1740474512-
96866COADTCGA-G4-6317-02AEPB41L2chr6131384295-STAT3chr1740469242-
96866COADTCGA-G4-6317-02AEPB41L2chr6131384295-STAT3chr1740474512-
96866N/ABU658881EZH1chr1740882846-STAT3chr1740482547+
96866N/AAA569272FAM120Bchr6170702235-STAT3chr1740465346+
96866N/AAI420937INPP5Jchr2231508264+STAT3chr1740465342+
96866N/AAW022789KLC1chr14104152562+STAT3chr1740495504-
96866N/AT05579NDST2chr1075561883-STAT3chr1740491411-
96866STADTCGA-BR-8590-01APCBP2chr1253849785+STAT3chr1740483549-
96866N/ABE220933RAB37chr1772742619-STAT3chr1740467141+
96866BRCATCGA-EW-A1J3-01ARARAchr1738465537+STAT3chr1740500537-
96866BRCATCGA-EW-A1J3-01ARARAchr1738465537+STAT3chr1740500556-
96866BRCATCGA-EW-A1J3-01ARARAchr1738465538+STAT3chr1740500538-
96866BRCATCGA-EW-A1J3-01ARARAchr1738465538-STAT3chr1740500557-
96866N/ABQ374310SEMA6Bchr194562021+STAT3chr1740537295-
96866PRADTCGA-VP-A87CSREBF1chr1717726831-STAT3chr1740500557-
96866PRADTCGA-VP-A87CSREBF1chr1717740040-STAT3chr1740500557-
96866PRADTCGA-VP-A87CSREBF1chr1717740041-STAT3chr1740500557-
96866PRADTCGA-VP-A87C-01ASREBF1chr1717726832-STAT3chr1740500557-
87256BRCATCGA-AN-A0FT-01ASTAT3chr1740497577-C17orf102chr1732903593-
87256LIHCTCGA-G3-A7M7-01ASTAT3chr1740497577-C1orf43chr1154180124-
101609PRADTCGA-EJ-5511STAT3chr1740468806-ETV4chr1741611353-
101609PRADTCGA-EJ-5511-01ASTAT3chr1740468806-ETV4chr1741611352-
101609PRADTCGA-EJ-5511-01ASTAT3chr1740468807-ETV4chr1741611353-
87256BRCATCGA-A2-A25DSTAT3chr1740490748-FAM134Cchr1740739882-
87256BRCATCGA-A2-A25D-01ASTAT3chr1740490749-FAM134Cchr1740739882-
87256BRCATCGA-A2-A25D-01ASTAT3chr1740490751-FAM134Cchr1740739884-
87256CESCTCGA-VS-A9UP-01ASTAT3chr1740500407-KAT2Achr1740272847-
87256STADTCGA-BR-A4QI-01ASTAT3chr1740467656-LINC00671chr1741036703-
95195ESCATCGA-L5-A4OWSTAT3chr1740540296-NOS2chr1726116714-
95195ESCATCGA-L5-A4OW-01ASTAT3chr1740540297-NOS2chr1726116714-
87256LUSCTCGA-NC-A5HGSTAT3chr1740540297-PLCXD1chrX168810+
87256LUSCTCGA-NC-A5HGSTAT3chr1740540297-PLCXD1chrY118810+
99281N/ACF272259STAT3chr1740504971-PSMD11chr1730810337-
91215BRCATCGA-EW-A1PB-01ASTAT3chr1740540297-PTRFchr1740557406-
91215GBMTCGA-06-0171-02ASTAT3chr1740489453-PTRFchr1740557406-
91215SKCMTCGA-D3-A8GC-06ASTAT3chr1740498587-PTRFchr1740557406-
87256PRADTCGA-HC-7820STAT3chr1740475022-RAB5Cchr1740278866-
96866N/AAW771913STAT3chr1740538041+STAT3chr1740532338+
96866N/ABQ213821STAT3chr1740466286+STAT3chr1740466075-
103002LIHCTCGA-G3-A7M7-01ASTAT3chr1740497577-TPM3chr1154148724-
87256N/AAW020992STAT3chr1740466870-TSR1chr172232173+
101976N/AAA531323STAT3chr1740466876-UBE2D2chr5138986432-
101126BRCATCGA-A8-A09D-01ASTAT3chr1740540297-ZFPM2chr8106646474+
99989N/AAA533060STAT3chr1740466877-ZFYVE9chr152747094-
87256BRCATCGA-BH-A0DZ-01ASTAT3chr1740474303-ZSWIM7chr1715880406-
96866ESCATCGA-L5-A8NE-01ASTAT5Bchr1740354358-STAT3chr1740477079-
96866READTCGA-AG-3731TBL1XR1chr3176914908-STAT3chr1740500535-
96866READTCGA-AG-3731-01ATBL1XR1chr3176914909-STAT3chr1740500557-
96866N/ANM_001323316TGM2chr2036755789-STAT3chr1740503146+
96866GBMTCGA-12-0616-01AUNC80chr2210834615+STAT3chr1740478217-


Top


Prognostic Analysis


check button Kaplan-Meier plots with logrank tests of overall survival (OS)
all structure
Cancer typeTranslation factorCoefficentHazard ratioWald test pvalLikelihool ratio pvalLogrank test pval# samples


Top


Translation factor and Gender


check button Differential gene expression between female and male. (Wilcoxon test, pval<0.05)
all structure
Cancer typeTranslation factorpvaladj.p
TGCTSTAT30.01883047817573250.53
THCASTAT30.04094229994184391
SKCMSTAT30.04760754691038371
PCPGSTAT30.04815503464805061

Top


Translation factor and Age


check button Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)
all structure
Cancer typeTranslation factorpvaladj.p
TGCTSTAT30.04392367513679381
LUSCSTAT30.03944538791031341
KIRPSTAT30.000106976612358830.0035
PAADSTAT30.04395047547765871
THYMSTAT30.005244535329528630.17
SARCSTAT30.0332366308994981

Top


Related Drugs


check button Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P40763DB05959ENMD-1198Small moleculeInvestigational
P40763DB05959ENMD-1198

Top


Related Diseases


check button Diseases associated with this translation factor.
(DisGeNet 4.0)
Disease IDDisease Name# PubMedsDisease source
C4721531HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT7GENOMICS_ENGLAND;UNIPROT
C0376358Malignant neoplasm of prostate3CTD_human
C2936739Hyper-Immunoglobulin E Syndrome, Autosomal Dominant3CTD_human;ORPHANET
C3887645Job Syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET
C4014795AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 13CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
C0003865Arthritis, Adjuvant-Induced2CTD_human
C0007137Squamous cell carcinoma2CTD_human
C0009324Ulcerative Colitis2CTD_human
C0019207Hepatoma, Morris2CTD_human
C0019208Hepatoma, Novikoff2CTD_human
C0030297Pancreatic Neoplasm2CTD_human
C0086404Experimental Hepatoma2CTD_human
C0205641Adenocarcinoma, Basal Cell2CTD_human
C0205642Adenocarcinoma, Oxyphilic2CTD_human
C0205643Carcinoma, Cribriform2CTD_human
C0205644Carcinoma, Granular Cell2CTD_human
C0205645Adenocarcinoma, Tubular2CTD_human
C0346647Malignant neoplasm of pancreas2CTD_human
C0971858Arthritis, Collagen-Induced2CTD_human
C0993582Arthritis, Experimental2CTD_human
C1955861T-Cell Large Granular Lymphocyte Leukemia2CGI;ORPHANET
C2930809Neutropenia and hyperlymphocytosis with large granular lymphocytes2ORPHANET
C3489795Hyper-Ige Recurrent Infection Syndrome, Autosomal Dominant2CTD_human;ORPHANET
C0004153Atherosclerosis1CTD_human
C0006142Malignant neoplasm of breast1CTD_human
C0007102Malignant tumor of colon1CTD_human
C0007131Non-Small Cell Lung Carcinoma1CTD_human
C0007786Brain Ischemia1CTD_human
C0007873Uterine Cervical Neoplasm1CTD_human
C0011581Depressive disorder1PSYGENET
C0011854Diabetes Mellitus, Insulin-Dependent1CTD_human
C0019189Hepatitis, Chronic1CTD_human
C0023467Leukemia, Myelocytic, Acute1CTD_human
C0023485Precursor B-Cell Lymphoblastic Leukemia-Lymphoma1CTD_human
C0023487Acute Promyelocytic Leukemia1ORPHANET
C0023492Leukemia, T-Cell1CTD_human
C0023493Adult T-Cell Lymphoma/Leukemia1CTD_human
C0024232Lymphatic Metastasis1CTD_human
C0024623Malignant neoplasm of stomach1CTD_human
C0025149Medulloblastoma1CTD_human
C0025261Memory Disorders1CTD_human
C0026998Acute Myeloid Leukemia, M11CTD_human
C0030246Pustulosis of Palms and Soles1CTD_human
C0033860Psoriasis1CTD_human
C0034069Pulmonary Fibrosis1CTD_human
C0035126Reperfusion Injury1CTD_human
C0079772T-Cell Lymphoma1CTD_human
C0087031Juvenile-Onset Still Disease1CTD_human
C0149519Chronic Persistent Hepatitis1CTD_human
C0158981Neonatal diabetes mellitus1GENOMICS_ENGLAND
C0205696Anaplastic carcinoma1CTD_human
C0205697Carcinoma, Spindle-Cell1CTD_human
C0205698Undifferentiated carcinoma1CTD_human
C0205734Diabetes, Autoimmune1CTD_human
C0205833Medullomyoblastoma1CTD_human
C0206180Ki-1+ Anaplastic Large Cell Lymphoma1CTD_human
C0235833Congenital diaphragmatic hernia1CTD_human
C0265699Congenital hernia of foramen of Morgagni1CTD_human
C0265700Congenital hernia of foramen of Bochdalek1CTD_human
C0278510Childhood Medulloblastoma1CTD_human
C0278876Adult Medulloblastoma1CTD_human
C0282313Condition, Preneoplastic1CTD_human
C0342302Brittle diabetes1CTD_human
C0345904Malignant neoplasm of liver1CTD_human
C0520463Chronic active hepatitis1CTD_human
C0524611Cryptogenic Chronic Hepatitis1CTD_human
C0678222Breast Carcinoma1CTD_human
C0740376Middle Cerebral Artery Thrombosis1CTD_human
C0740391Middle Cerebral Artery Occlusion1CTD_human
C0740392Infarction, Middle Cerebral Artery1CTD_human
C0751291Desmoplastic Medulloblastoma1CTD_human
C0917798Cerebral Ischemia1CTD_human
C0919267ovarian neoplasm1CTD_human
C1140680Malignant neoplasm of ovary1CTD_human
C1168401Squamous cell carcinoma of the head and neck1CTD_human
C1257925Mammary Carcinoma, Animal1CTD_human
C1257931Mammary Neoplasms, Human1CTD_human
C1275668Melanotic medulloblastoma1CTD_human
C1512709Chronic Lymphoproliferative Disorder of NK-Cells1ORPHANET
C1623038Cirrhosis1CTD_human
C1708349Hereditary Diffuse Gastric Cancer1CTD_human
C1800706Idiopathic Pulmonary Fibrosis1CTD_human
C1833104DIABETES MELLITUS, PERMANENT NEONATAL1ORPHANET
C1876165Copper-Overload Cirrhosis1CTD_human
C1879321Acute Myeloid Leukemia (AML-M2)1CTD_human
C1968689Hyper-Immunoglobulin E Syndrome, Autosomal Recessive1CTD_human
C3495559Juvenile arthritis1CTD_human
C3714758Juvenile psoriatic arthritis1CTD_human
C3837958Diabetes Mellitus, Ketosis-Prone1CTD_human
C4048328cervical cancer1CTD_human
C4552091Polyarthritis, Juvenile, Rheumatoid Factor Negative1CTD_human
C4554117Diabetes Mellitus, Sudden-Onset1CTD_human
C4704862Polyarthritis, Juvenile, Rheumatoid Factor Positive1CTD_human
C4704874Mammary Carcinoma, Human1CTD_human
C4721507Alveolitis, Fibrosing1CTD_human
C4721508Hamman-Rich Disease1CTD_human
C4721509Usual Interstitial Pneumonia1CTD_human
C4721952Familial Idiopathic Pulmonary Fibrosis1CTD_human