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Center for Computational Systems Medicine
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Gene Summary

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Translation studies in PubMed

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Exon Skipping Events

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Expression

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Expression Regulation

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Associated Genes

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Protein 3D Structure

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Protein-Protein Interaction

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Mutations

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Prognostic Analysis

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Gender Association

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Age Association

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Related Drugs

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Related Diseases

Translation Factor: PURA (NCBI Gene ID:5813)


Gene Summary

check button Gene Summary
Gene InformationGene Name: PURA
Gene ID: 5813
Gene Symbol

PURA

Gene ID

5813

Gene Namepurine rich element binding protein A
SynonymsMRD31|PUR-ALPHA|PUR1|PURALPHA
Cytomap

5q31.3

Type of Geneprotein-coding
Descriptiontranscriptional activator protein Pur-alphapurine-rich single-stranded DNA-binding protein alpha
Modification date20200313
UniProtAcc

Q00577


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
HgenePURA

GO:0006268

DNA unwinding involved in DNA replication

15777841



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
PURA>1119.25


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Translation Studies in PubMed

check button We searched PubMed using 'PURA[title] AND translation [title] AND human.'
GeneTitlePMID
PURA..


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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

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)

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.


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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
ESCAPURA-1.332996083959370.0009765625
KICHPURA-1.140592323724430.0159729719161987
LIHCPURA1.343995488849570.0407076861351475
THCAPURA-1.332404072551072.91518004362401e-07
KIRPPURA-2.827559268771629.90275293588639e-06


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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
CESCPURA120.04566195344501970.1608283950617280.2966491496598640.2440464013533170.530041299312877
UVMPURA120.03518739005484340.1332361655773420.2803362930077690.6156167717240650.885200489404713

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

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Associated Genes


check button Strongly correlated genes belong to cellular important gene groups with PURA (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 genePURAPRKAA10.8047574497.23E-22
KICHEpifactorPURAPRKAA10.8047574497.23E-22
KICHIUPHARPURAPRKAA10.8047574497.23E-22
KICHKinasePURAPRKAA10.8047574497.23E-22
KICHTSGPURAPRKAA10.8047574497.23E-22
PAADCGCPURAAPC0.8272897063.35E-47
PAADTSGPURAAPC0.8272897063.35E-47
THYMCell metabolism genePURASYNJ10.8017078571.36E-28
THYMCell metabolism genePURAPIGK0.801867191.31E-28
THYMCell metabolism genePURAMED230.802828971.01E-28
THYMCell metabolism genePURADBT0.8032124379.06E-29
THYMCell metabolism genePURARANBP20.8038684127.58E-29
THYMCell metabolism genePURACOL4A3BP0.8052907675.12E-29
THYMCell metabolism genePURASEC31A0.812747276.25E-30
THYMCell metabolism genePURAPRKAR1A0.8287976024.81E-32
THYMCell metabolism genePURAPIK3R40.8297212923.58E-32
THYMCell metabolism genePURAGXYLT10.8398616151.24E-33
THYMCell metabolism genePURATNPO10.8503950012.90E-35
THYMCell metabolism genePURALONP20.8511584132.19E-35
THYMCell metabolism genePURAPIK3C2A0.8738553822.16E-39
THYMCGCPURARANBP20.8038684127.58E-29
THYMCGCPURADICER10.8109316331.05E-29
THYMCGCPURAARHGEF120.8144899473.77E-30
THYMCGCPURAATRX0.8231284642.84E-31
THYMCGCPURAPRKAR1A0.8287976024.81E-32
THYMCGCPURAFBXO110.8318179711.82E-32
THYMCGCPURAARHGAP50.8619372093.37E-37
THYMCGCPURAAFF40.8787679952.32E-40
THYMEpifactorPURADZIP30.8023703451.14E-28
THYMEpifactorPURAZMYND110.8076205772.68E-29
THYMEpifactorPURAATRX0.8231284642.84E-31
THYMEpifactorPURAHCFC20.8241028872.10E-31
THYMEpifactorPURAKDM3B0.8469796241.01E-34
THYMIUPHARPURASYNJ10.8017078571.36E-28
THYMIUPHARPURAXIAP0.8028442591.00E-28
THYMIUPHARPURAATP7A0.8049948055.56E-29
THYMIUPHARPURASLC9A60.8063646633.81E-29
THYMIUPHARPURATNKS0.8067958933.38E-29
THYMIUPHARPURAZMYND110.8076205772.68E-29
THYMIUPHARPURASLC35A50.8121544647.41E-30
THYMIUPHARPURAMAGT10.8154470292.85E-30
THYMIUPHARPURANEK40.8161857442.29E-30
THYMIUPHARPURASLC25A360.8165471762.06E-30
THYMIUPHARPURATRPM70.8177666071.44E-30
THYMIUPHARPURAPDPK10.8277075326.80E-32
THYMIUPHARPURAPRKAR1A0.8287976024.81E-32
THYMIUPHARPURAPIK3R40.8297212923.58E-32
THYMIUPHARPURAFBXO110.8318179711.82E-32
THYMIUPHARPURAPKN20.8373537682.91E-33
THYMIUPHARPURAPREPL0.8457692461.56E-34
THYMIUPHARPURAKDM3B0.8469796241.01E-34
THYMIUPHARPURASLC26A20.849513734.02E-35
THYMIUPHARPURASLC35F50.8604293126.17E-37
THYMIUPHARPURAPIK3C2A0.8738553822.16E-39
THYMIUPHARPURAMAP4K30.8854610569.45E-42
THYMKinasePURACOL4A3BP0.8052907675.12E-29
THYMKinasePURANEK40.8161857442.29E-30
THYMKinasePURATRPM70.8177666071.44E-30
THYMKinasePURAPDPK10.8277075326.80E-32
THYMKinasePURAPIK3R40.8297212923.58E-32
THYMKinasePURAPKN20.8373537682.91E-33
THYMKinasePURAMAP4K30.8854610569.45E-42
THYMTFPURAZNF5940.800190532.05E-28
THYMTFPURATMF10.8028179241.01E-28
THYMTFPURAZNF2680.8032693338.92E-29
THYMTFPURAZNF2230.8044618016.44E-29
THYMTFPURAZNF4200.8110738681.01E-29
THYMTFPURAZNF3040.8111946839.76E-30
THYMTFPURARBAK0.8112613989.57E-30
THYMTFPURAZNF6150.8113307079.38E-30
THYMTFPURAZNF4710.8114861078.98E-30
THYMTFPURAZNF354B0.8115954068.70E-30
THYMTFPURAZXDB0.8127622796.22E-30
THYMTFPURAZNF4610.8135611714.94E-30
THYMTFPURAZNF780B0.8150017443.24E-30
THYMTFPURANFAT50.8167789361.92E-30
THYMTFPURAZBTB430.8258036031.24E-31
THYMTFPURAZNF6140.8285795695.15E-32
THYMTFPURAZNF585B0.8312671392.17E-32
THYMTFPURAZNF910.8331685851.17E-32
THYMTFPURAZNF4320.8356221675.19E-33
THYMTFPURAMEF2A0.8377685792.53E-33
THYMTFPURASMAD50.8429391024.26E-34
THYMTFPURAZNF120.8462158061.33E-34
THYMTFPURAZNF4410.8464997821.20E-34
THYMTFPURABBX0.8813538096.90E-41
THYMTSGPURAZMYND110.8076205772.68E-29
THYMTSGPURADICER10.8109316331.05E-29
THYMTSGPURAKRIT10.8119609547.83E-30
THYMTSGPURAARHGEF120.8144899473.77E-30
THYMTSGPURADLG10.8209002115.60E-31
THYMTSGPURAPHLPP20.8279519316.29E-32
THYMTSGPURAPRKAR1A0.8287976024.81E-32
THYMTSGPURADNAJB40.8318899991.78E-32
THYMTSGPURANUMB0.8396560261.33E-33
THYMTSGPURAKDM3B0.8469796241.01E-34
UCSCell metabolism genePURASYNJ10.8017078571.36E-28
UCSCell metabolism genePURAPIGK0.801867191.31E-28
UCSCell metabolism genePURAMED230.802828971.01E-28
UCSCell metabolism genePURADBT0.8032124379.06E-29
UCSCell metabolism genePURARANBP20.8038684127.58E-29
UCSCell metabolism genePURACOL4A3BP0.8052907675.12E-29
UCSCell metabolism genePURASEC31A0.812747276.25E-30
UCSCell metabolism genePURAPRKAR1A0.8287976024.81E-32
UCSCell metabolism genePURAPIK3R40.8297212923.58E-32
UCSCell metabolism genePURAGXYLT10.8398616151.24E-33
UCSCell metabolism genePURATNPO10.8503950012.90E-35
UCSCell metabolism genePURALONP20.8511584132.19E-35
UCSCell metabolism genePURAPIK3C2A0.8738553822.16E-39
UCSCGCPURARANBP20.8038684127.58E-29
UCSCGCPURADICER10.8109316331.05E-29
UCSCGCPURAARHGEF120.8144899473.77E-30
UCSCGCPURAATRX0.8231284642.84E-31
UCSCGCPURAPRKAR1A0.8287976024.81E-32
UCSCGCPURAFBXO110.8318179711.82E-32
UCSCGCPURAARHGAP50.8619372093.37E-37
UCSCGCPURAAFF40.8787679952.32E-40
UCSEpifactorPURADZIP30.8023703451.14E-28
UCSEpifactorPURAZMYND110.8076205772.68E-29
UCSEpifactorPURAATRX0.8231284642.84E-31
UCSEpifactorPURAHCFC20.8241028872.10E-31
UCSEpifactorPURAKDM3B0.8469796241.01E-34
UCSIUPHARPURASYNJ10.8017078571.36E-28
UCSIUPHARPURAXIAP0.8028442591.00E-28
UCSIUPHARPURAATP7A0.8049948055.56E-29
UCSIUPHARPURASLC9A60.8063646633.81E-29
UCSIUPHARPURATNKS0.8067958933.38E-29
UCSIUPHARPURAZMYND110.8076205772.68E-29
UCSIUPHARPURASLC35A50.8121544647.41E-30
UCSIUPHARPURAMAGT10.8154470292.85E-30
UCSIUPHARPURANEK40.8161857442.29E-30
UCSIUPHARPURASLC25A360.8165471762.06E-30
UCSIUPHARPURATRPM70.8177666071.44E-30
UCSIUPHARPURAPDPK10.8277075326.80E-32
UCSIUPHARPURAPRKAR1A0.8287976024.81E-32
UCSIUPHARPURAPIK3R40.8297212923.58E-32
UCSIUPHARPURAFBXO110.8318179711.82E-32
UCSIUPHARPURAPKN20.8373537682.91E-33
UCSIUPHARPURAPREPL0.8457692461.56E-34
UCSIUPHARPURAKDM3B0.8469796241.01E-34
UCSIUPHARPURASLC26A20.849513734.02E-35
UCSIUPHARPURASLC35F50.8604293126.17E-37
UCSIUPHARPURAPIK3C2A0.8738553822.16E-39
UCSIUPHARPURAMAP4K30.8854610569.45E-42
UCSKinasePURACOL4A3BP0.8052907675.12E-29
UCSKinasePURANEK40.8161857442.29E-30
UCSKinasePURATRPM70.8177666071.44E-30
UCSKinasePURAPDPK10.8277075326.80E-32
UCSKinasePURAPIK3R40.8297212923.58E-32
UCSKinasePURAPKN20.8373537682.91E-33
UCSKinasePURAMAP4K30.8854610569.45E-42
UCSTFPURAZNF5940.800190532.05E-28
UCSTFPURATMF10.8028179241.01E-28
UCSTFPURAZNF2680.8032693338.92E-29
UCSTFPURAZNF2230.8044618016.44E-29
UCSTFPURAZNF4200.8110738681.01E-29
UCSTFPURAZNF3040.8111946839.76E-30
UCSTFPURARBAK0.8112613989.57E-30
UCSTFPURAZNF6150.8113307079.38E-30
UCSTFPURAZNF4710.8114861078.98E-30
UCSTFPURAZNF354B0.8115954068.70E-30
UCSTFPURAZXDB0.8127622796.22E-30
UCSTFPURAZNF4610.8135611714.94E-30
UCSTFPURAZNF780B0.8150017443.24E-30
UCSTFPURANFAT50.8167789361.92E-30
UCSTFPURAZBTB430.8258036031.24E-31
UCSTFPURAZNF6140.8285795695.15E-32
UCSTFPURAZNF585B0.8312671392.17E-32
UCSTFPURAZNF910.8331685851.17E-32
UCSTFPURAZNF4320.8356221675.19E-33
UCSTFPURAMEF2A0.8377685792.53E-33
UCSTFPURASMAD50.8429391024.26E-34
UCSTFPURAZNF120.8462158061.33E-34
UCSTFPURAZNF4410.8464997821.20E-34
UCSTFPURABBX0.8813538096.90E-41
UCSTSGPURAZMYND110.8076205772.68E-29
UCSTSGPURADICER10.8109316331.05E-29
UCSTSGPURAKRIT10.8119609547.83E-30
UCSTSGPURAARHGEF120.8144899473.77E-30
UCSTSGPURADLG10.8209002115.60E-31
UCSTSGPURAPHLPP20.8279519316.29E-32
UCSTSGPURAPRKAR1A0.8287976024.81E-32
UCSTSGPURADNAJB40.8318899991.78E-32
UCSTSGPURANUMB0.8396560261.33E-33
UCSTSGPURAKDM3B0.8469796241.01E-34
UVMCell metabolism genePURAIPMK0.8015471314.23E-19
UVMCell metabolism genePURASUCLA20.8032687553.12E-19
UVMCell metabolism genePURAUGP20.8045214182.49E-19
UVMCell metabolism genePURAPANK30.8053777072.14E-19
UVMCell metabolism genePURALPGAT10.8056375922.04E-19
UVMCell metabolism genePURABPNT10.8067707071.66E-19
UVMCell metabolism genePURAMINPP10.8091060491.09E-19
UVMCell metabolism genePURANUPL20.8091970671.07E-19
UVMCell metabolism genePURAACADSB0.8100803869.07E-20
UVMCell metabolism genePURAALG130.8104837678.42E-20
UVMCell metabolism genePURADCK0.8105739028.28E-20
UVMCell metabolism genePURANUP1070.8156143833.20E-20
UVMCell metabolism genePURAPPAT0.8174972952.23E-20
UVMCell metabolism genePURAGNPDA20.8182311311.93E-20
UVMCell metabolism genePURANUP500.8187183211.76E-20
UVMCell metabolism genePURAUGCG0.8220367339.15E-21
UVMCell metabolism genePURAACSL40.8223835498.54E-21
UVMCell metabolism genePURAALG10B0.8224950648.36E-21
UVMCell metabolism genePURAUGGT20.8229099737.69E-21
UVMCell metabolism genePURADBT0.823383677.00E-21
UVMCell metabolism genePURAHIF1A0.8249757885.07E-21
UVMCell metabolism genePURAIDI10.8270845813.30E-21
UVMCell metabolism genePURAAASDHPPT0.8278965392.79E-21
UVMCell metabolism genePURAPIP5K1A0.828816022.31E-21
UVMCell metabolism genePURANAMPT0.8304931061.63E-21
UVMCell metabolism genePURACDK80.830939541.48E-21
UVMCell metabolism genePURADIS30.8323443641.10E-21
UVMCell metabolism genePURAGRPEL20.8328100929.96E-22
UVMCell metabolism genePURAFAR10.8333782688.82E-22
UVMCell metabolism genePURASEC24B0.834476626.97E-22
UVMCell metabolism genePURANUDT120.8349673556.27E-22
UVMCell metabolism genePURAPIK3CA0.835052336.16E-22
UVMCell metabolism genePURAHMGCS10.8354395785.66E-22
UVMCell metabolism genePURAETNK10.8356271195.43E-22
UVMCell metabolism genePURAPIK3C30.8358395385.19E-22
UVMCell metabolism genePURAAGPS0.8369970484.03E-22
UVMCell metabolism genePURASACM1L0.8375269893.59E-22
UVMCell metabolism genePURAMANEA0.8379092943.30E-22
UVMCell metabolism genePURAGLS0.8380210333.22E-22
UVMCell metabolism genePURACSGALNACT20.8416561761.43E-22
UVMCell metabolism genePURASPTLC10.8422747181.24E-22
UVMCell metabolism genePURAARFGEF20.8481614293.17E-23
UVMCell metabolism genePURAEDEM30.8482030143.14E-23
UVMCell metabolism genePURAPNPLA80.8527587281.05E-23
UVMCell metabolism genePURAFBXL30.8541145397.50E-24
UVMCell metabolism genePURAMTMR60.8545530136.72E-24
UVMCell metabolism genePURACLOCK0.8549664896.07E-24
UVMCell metabolism genePURATXNRD10.8556356455.13E-24
UVMCell metabolism genePURAPSMC60.8577158023.04E-24
UVMCell metabolism genePURAGPD20.8597647861.80E-24
UVMCell metabolism genePURARANBP20.8604368051.51E-24
UVMCell metabolism genePURAMTR0.8629596497.79E-25
UVMCell metabolism genePURATNPO10.8641677755.65E-25
UVMCell metabolism genePURAPIK3R10.8664197473.08E-25
UVMCell metabolism genePURAXPO10.8667295882.83E-25
UVMCell metabolism genePURAPHAX0.8687625431.62E-25
UVMCell metabolism genePURANUPL10.8723318415.92E-26
UVMCell metabolism genePURASMG10.8739013733.77E-26
UVMCell metabolism genePURAMED170.8742087493.45E-26
UVMCell metabolism genePURACOL4A3BP0.8759574132.07E-26
UVMCell metabolism genePURACNOT80.8776260231.26E-26
UVMCell metabolism genePURAPRKAA10.8885420694.08E-28
UVMCell metabolism genePURAPIKFYVE0.9145195872.16E-32
UVMCGCPURAPOT10.8039105542.78E-19
UVMCGCPURAJAK20.8040616792.71E-19
UVMCGCPURASTRN0.8054932112.10E-19
UVMCGCPURAPALB20.8061834731.85E-19
UVMCGCPURAMSH20.8074098441.48E-19
UVMCGCPURAMAP3K10.8076896061.41E-19
UVMCGCPURAHSP90AA10.8081727721.29E-19
UVMCGCPURAZMYM20.8101233599.00E-20
UVMCGCPURARB10.8125911365.68E-20
UVMCGCPURAARHGAP50.8148484963.71E-20
UVMCGCPURAKTN10.8171987572.36E-20
UVMCGCPURAKDM5A0.8236305036.66E-21
UVMCGCPURAITGAV0.8242098275.92E-21
UVMCGCPURAHIF1A0.8249757885.07E-21
UVMCGCPURABCLAF10.8253190554.73E-21
UVMCGCPURACDKN1B0.8255272384.54E-21
UVMCGCPURAGOPC0.8267960353.50E-21
UVMCGCPURAKIF5B0.8273406353.13E-21
UVMCGCPURAERCC40.8276559592.93E-21
UVMCGCPURAMALT10.8291851032.14E-21
UVMCGCPURAKRAS0.8296204141.95E-21
UVMCGCPURASTAG20.8298364771.87E-21
UVMCGCPURAPWWP2A0.8309767061.47E-21
UVMCGCPURAAPC0.833640888.34E-22
UVMCGCPURABIRC60.8338200528.03E-22
UVMCGCPURARAD170.8339281337.84E-22
UVMCGCPURABMPR1A0.8346370116.73E-22
UVMCGCPURAPIK3CA0.835052336.16E-22
UVMCGCPURAPMS10.8351371996.04E-22
UVMCGCPURAETNK10.8356271195.43E-22
UVMCGCPURAMLLT100.8357214515.32E-22
UVMCGCPURAATM0.8367533954.25E-22
UVMCGCPURACUL30.8418871191.36E-22
UVMCGCPURAN4BP20.8426871.13E-22
UVMCGCPURAIL6ST0.8441560778.07E-23
UVMCGCPURAUSP80.8457350945.60E-23
UVMCGCPURACREB10.8479308833.34E-23
UVMCGCPURAARID20.8510714461.58E-23
UVMCGCPURAABI10.8517740411.33E-23
UVMCGCPURASMAD40.8546287696.60E-24
UVMCGCPURARGPD30.8560747174.60E-24
UVMCGCPURADICER10.8566469573.98E-24
UVMCGCPURAATF10.8604163911.52E-24
UVMCGCPURARANBP20.8604368051.51E-24
UVMCGCPURAFBXO110.86378366.26E-25
UVMCGCPURAPIK3R10.8664197473.08E-25
UVMCGCPURAXPO10.8667295882.83E-25
UVMCGCPURACDC730.870404681.02E-25
UVMCGCPURAAFF40.8770829441.48E-26
UVMCGCPURASF3B10.8772775741.40E-26
UVMCGCPURASUZ120.8926989231.00E-28
UVMCGCPURADDX50.9038501271.73E-30
UVMEpifactorPURACTBP20.8003976565.18E-19
UVMEpifactorPURABRWD10.8016955764.12E-19
UVMEpifactorPURAUSP120.8038708262.80E-19
UVMEpifactorPURAJAK20.8040616792.71E-19
UVMEpifactorPURAINO80D0.8050465332.27E-19
UVMEpifactorPURARLIM0.8092439211.06E-19
UVMEpifactorPURAMYSM10.8094998861.01E-19
UVMEpifactorPURASUDS30.8100250279.16E-20
UVMEpifactorPURAZMYM20.8101233599.00E-20
UVMEpifactorPURASENP10.8103130438.69E-20
UVMEpifactorPURAATAD2B0.8117847716.61E-20
UVMEpifactorPURARB10.8125911365.68E-20
UVMEpifactorPURABRMS1L0.8142381584.16E-20
UVMEpifactorPURASHPRH0.8158499953.06E-20
UVMEpifactorPURABRD80.816343532.79E-20
UVMEpifactorPURAHCFC20.8171923342.37E-20
UVMEpifactorPURABAZ2B0.8175708392.20E-20
UVMEpifactorPURAPCGF60.8196428661.47E-20
UVMEpifactorPURAHAT10.8210277461.12E-20
UVMEpifactorPURATDG0.8216494689.89E-21
UVMEpifactorPURAACTR60.8232821567.14E-21
UVMEpifactorPURATAF10.8234131066.95E-21
UVMEpifactorPURAKDM5A0.8236305036.66E-21
UVMEpifactorPURARMI10.8238164316.41E-21
UVMEpifactorPURAUBR20.8244557415.64E-21
UVMEpifactorPURAPHIP0.8258102734.28E-21
UVMEpifactorPURAMPHOSPH80.8261475454.00E-21
UVMEpifactorPURATADA10.8295250941.99E-21
UVMEpifactorPURAZRANB30.8301139371.76E-21
UVMEpifactorPURANSL10.8321958821.14E-21
UVMEpifactorPURAFAM175B0.8344087167.07E-22
UVMEpifactorPURAMLLT100.8357214515.32E-22
UVMEpifactorPURASIRT10.8367174894.28E-22
UVMEpifactorPURAATM0.8367533954.25E-22
UVMEpifactorPURAUHRF20.838433612.94E-22
UVMEpifactorPURAYEATS40.8400982442.03E-22
UVMEpifactorPURAJMJD1C0.841608481.44E-22
UVMEpifactorPURACUL30.8418871191.36E-22
UVMEpifactorPURAOGT0.842299331.23E-22
UVMEpifactorPURAUSP150.8429412461.07E-22
UVMEpifactorPURAZMYND110.8439781358.41E-23
UVMEpifactorPURATLK10.8441802648.03E-23
UVMEpifactorPURABRCC30.8452285086.30E-23
UVMEpifactorPURAPARG0.8463349054.87E-23
UVMEpifactorPURAARID4A0.8468559874.31E-23
UVMEpifactorPURACDK170.8478033743.45E-23
UVMEpifactorPURAWAC0.8478096263.44E-23
UVMEpifactorPURAUCHL50.8488555012.69E-23
UVMEpifactorPURANIPBL0.8505530271.79E-23
UVMEpifactorPURACUL50.8505868831.77E-23
UVMEpifactorPURAARID20.8510714461.58E-23
UVMEpifactorPURASMEK10.8521392841.22E-23
UVMEpifactorPURACLOCK0.8549664896.07E-24
UVMEpifactorPURACHD10.856638453.99E-24
UVMEpifactorPURARCOR30.8577654983.00E-24
UVMEpifactorPURAAEBP20.8616373461.10E-24
UVMEpifactorPURASMEK20.8636715046.45E-25
UVMEpifactorPURAEPC10.8670364782.60E-25
UVMEpifactorPURAATF20.8687231331.63E-25
UVMEpifactorPURACDC730.870404681.02E-25
UVMEpifactorPURAYY10.8712639268.02E-26
UVMEpifactorPURACUL20.8768389031.59E-26
UVMEpifactorPURASF3B10.8772775741.40E-26
UVMEpifactorPURAEPC20.8808054294.80E-27
UVMEpifactorPURATAF70.8881432534.65E-28
UVMEpifactorPURACHD90.8881921624.58E-28
UVMEpifactorPURAPRKAA10.8885420694.08E-28
UVMEpifactorPURASUZ120.8926989231.00E-28
UVMIUPHARPURABRWD10.8016955764.12E-19
UVMIUPHARPURASLC38A20.8023016583.70E-19
UVMIUPHARPURAJAK20.8040616792.71E-19
UVMIUPHARPURADPP80.8041691252.66E-19
UVMIUPHARPURAMAPK90.8050000652.29E-19
UVMIUPHARPURAIRAK40.80684551.64E-19
UVMIUPHARPURASLC30A90.8073363871.50E-19
UVMIUPHARPURAATP6V0A20.8073581271.49E-19
UVMIUPHARPURAMAP3K10.8076896061.41E-19
UVMIUPHARPURAHSP90AA10.8081727721.29E-19
UVMIUPHARPURAMAP4K30.8082248551.28E-19
UVMIUPHARPURASENP10.8103130438.69E-20
UVMIUPHARPURASLC25A400.8107027468.08E-20
UVMIUPHARPURAATAD2B0.8117847716.61E-20
UVMIUPHARPURAPRMT30.8123162215.98E-20
UVMIUPHARPURAABCA50.813982684.37E-20
UVMIUPHARPURATBK10.8161279472.90E-20
UVMIUPHARPURABRD80.816343532.79E-20
UVMIUPHARPURAPPAT0.8174972952.23E-20
UVMIUPHARPURABAZ2B0.8175708392.20E-20
UVMIUPHARPURATTBK20.8203066231.29E-20
UVMIUPHARPURAHAT10.8210277461.12E-20
UVMIUPHARPURAMAGT10.8215145771.02E-20
UVMIUPHARPURAVRK20.8219683779.28E-21
UVMIUPHARPURAUGCG0.8220367339.15E-21
UVMIUPHARPURAMAPK60.8223844628.54E-21
UVMIUPHARPURASLC25A240.8231555497.32E-21
UVMIUPHARPURATAF10.8234131066.95E-21
UVMIUPHARPURAKDM5A0.8236305036.66E-21
UVMIUPHARPURAITGAV0.8242098275.92E-21
UVMIUPHARPURAPHIP0.8258102734.28E-21
UVMIUPHARPURAIDI10.8270845813.30E-21
UVMIUPHARPURASLC2A130.827589232.98E-21
UVMIUPHARPURAPKN20.8279023332.79E-21
UVMIUPHARPURAADAM170.8284619672.48E-21
UVMIUPHARPURAPIP5K1A0.828816022.31E-21
UVMIUPHARPURAMALT10.8291851032.14E-21
UVMIUPHARPURAKRAS0.8296204141.95E-21
UVMIUPHARPURAPRPF4B0.8305906471.59E-21
UVMIUPHARPURACDK80.830939541.48E-21
UVMIUPHARPURABIRC60.8338200528.03E-22
UVMIUPHARPURARIOK30.8339267817.85E-22
UVMIUPHARPURABMPR1A0.8346370116.73E-22
UVMIUPHARPURAPIK3CA0.835052336.16E-22
UVMIUPHARPURALNPEP0.8350582196.15E-22
UVMIUPHARPURAHMGCS10.8354395785.66E-22
UVMIUPHARPURAPIK3C30.8358395385.19E-22
UVMIUPHARPURABIRC20.8363191324.67E-22
UVMIUPHARPURASIRT10.8367174894.28E-22
UVMIUPHARPURAATM0.8367533954.25E-22
UVMIUPHARPURASLC25A460.8368998744.12E-22
UVMIUPHARPURAGLS0.8380210333.22E-22
UVMIUPHARPURADYRK1A0.8403332581.92E-22
UVMIUPHARPURAJMJD1C0.841608481.44E-22
UVMIUPHARPURASPTLC10.8422747181.24E-22
UVMIUPHARPURAZMYND110.8439781358.41E-23
UVMIUPHARPURAIL6ST0.8441560778.07E-23
UVMIUPHARPURATLK10.8441802648.03E-23
UVMIUPHARPURAMAPK80.8454654555.96E-23
UVMIUPHARPURANEK70.8470982994.07E-23
UVMIUPHARPURACDK170.8478033743.45E-23
UVMIUPHARPURASLK0.8487220962.77E-23
UVMIUPHARPURACSNK1A10.8491273052.52E-23
UVMIUPHARPURATRPM70.8503357861.88E-23
UVMIUPHARPURASCYL20.8504450331.84E-23
UVMIUPHARPURAHIPK30.850612431.76E-23
UVMIUPHARPURASLC30A50.8518533221.31E-23
UVMIUPHARPURAMAP3K20.8533346199.09E-24
UVMIUPHARPURANR3C10.8542922437.17E-24
UVMIUPHARPURABMPR20.8546941246.49E-24
UVMIUPHARPURACLOCK0.8549664896.07E-24
UVMIUPHARPURACSNK1G30.8591737782.09E-24
UVMIUPHARPURANR2C10.8591738242.09E-24
UVMIUPHARPURAMTR0.8629596497.79E-25
UVMIUPHARPURAFBXO110.86378366.26E-25
UVMIUPHARPURAXIAP0.864864244.69E-25
UVMIUPHARPURAPIK3R10.8664197473.08E-25
UVMIUPHARPURAXPO10.8667295882.83E-25
UVMIUPHARPURAUSP140.8668259992.76E-25
UVMIUPHARPURASMG10.8739013733.77E-26
UVMIUPHARPURATNKS20.8772041591.43E-26
UVMIUPHARPURAPRKAA10.8885420694.08E-28
UVMIUPHARPURAPIKFYVE0.9145195872.16E-32
UVMKinasePURAJAK20.8040616792.71E-19
UVMKinasePURAMAPK90.8050000652.29E-19
UVMKinasePURAIRAK40.80684551.64E-19
UVMKinasePURAMAP3K10.8076896061.41E-19
UVMKinasePURAMAP4K30.8082248551.28E-19
UVMKinasePURATBK10.8161279472.90E-20
UVMKinasePURATTBK20.8203066231.29E-20
UVMKinasePURAVRK20.8219683779.28E-21
UVMKinasePURAMAPK60.8223844628.54E-21
UVMKinasePURATAF10.8234131066.95E-21
UVMKinasePURAPKN20.8279023332.79E-21
UVMKinasePURAPRPF4B0.8305906471.59E-21
UVMKinasePURACDK80.830939541.48E-21
UVMKinasePURARIOK30.8339267817.85E-22
UVMKinasePURABMPR1A0.8346370116.73E-22
UVMKinasePURAATM0.8367533954.25E-22
UVMKinasePURASCYL30.8375429383.58E-22
UVMKinasePURADYRK1A0.8403332581.92E-22
UVMKinasePURATLK10.8441802648.03E-23
UVMKinasePURAMAPK80.8454654555.96E-23
UVMKinasePURANEK70.8470982994.07E-23
UVMKinasePURAPAN30.8477666483.48E-23
UVMKinasePURACDK170.8478033743.45E-23
UVMKinasePURASLK0.8487220962.77E-23
UVMKinasePURACSNK1A10.8491273052.52E-23
UVMKinasePURATRPM70.8503357861.88E-23
UVMKinasePURASCYL20.8504450331.84E-23
UVMKinasePURAHIPK30.850612431.76E-23
UVMKinasePURAMAP3K20.8533346199.09E-24
UVMKinasePURABMPR20.8546941246.49E-24
UVMKinasePURACSNK1G30.8591737782.09E-24
UVMKinasePURASMG10.8739013733.77E-26
UVMKinasePURACOL4A3BP0.8759574132.07E-26
UVMKinasePURAPRKAA10.8885420694.08E-28
UVMTFPURAZNF430.800033325.52E-19
UVMTFPURAZNF2350.8010165254.64E-19
UVMTFPURAZNF2810.8024630213.60E-19
UVMTFPURATMF10.8025126713.57E-19
UVMTFPURAZNF5670.8028022893.39E-19
UVMTFPURATHAP10.8035342212.98E-19
UVMTFPURAZNF2480.8048501392.35E-19
UVMTFPURAZNF250.8065981311.72E-19
UVMTFPURAZNF240.8072091241.54E-19
UVMTFPURAZNF8450.8072733671.52E-19
UVMTFPURAZBED50.8074837481.46E-19
UVMTFPURAZSCAN290.8077093361.40E-19
UVMTFPURAZNF2220.8079725011.34E-19
UVMTFPURAZNF5870.808736491.16E-19
UVMTFPURAMYSM10.8094998861.01E-19
UVMTFPURAZNF4200.8095935679.92E-20
UVMTFPURALCOR0.8099115049.36E-20
UVMTFPURAZNF4430.8100662539.09E-20
UVMTFPURAZNF6250.8107689887.98E-20
UVMTFPURAFOXN20.8114819136.99E-20
UVMTFPURAPRMT30.8123162215.98E-20
UVMTFPURAZNF354B0.8126231685.65E-20
UVMTFPURACEBPZ0.812891915.37E-20
UVMTFPURAZNF1430.8136496444.65E-20
UVMTFPURAZFP140.8157729033.11E-20
UVMTFPURAZNF260.8162528132.83E-20
UVMTFPURAZNF280D0.8172798562.33E-20
UVMTFPURABAZ2B0.8175708392.20E-20
UVMTFPURAZNF6240.8179157012.06E-20
UVMTFPURAZNF4400.8182882971.91E-20
UVMTFPURAZNF2250.8186394791.79E-20
UVMTFPURAZNF230.8193166761.57E-20
UVMTFPURAZNF780B0.8194509011.52E-20
UVMTFPURAPURB0.819635351.47E-20
UVMTFPURAPCGF60.8196428661.47E-20
UVMTFPURAELF20.8198655561.41E-20
UVMTFPURAZNF4610.8203427991.28E-20
UVMTFPURAZNF5100.8212529751.07E-20
UVMTFPURAZNF140.8226341768.13E-21
UVMTFPURAGABPA0.8227166027.99E-21
UVMTFPURAZNF4310.822896747.71E-21
UVMTFPURACREBZF0.8229641737.61E-21
UVMTFPURAZNF1010.8232796497.14E-21
UVMTFPURAZNF33A0.8239492516.24E-21
UVMTFPURAZNF5270.8241995665.94E-21
UVMTFPURAZFX0.8244021415.70E-21
UVMTFPURATHAP90.824788225.27E-21
UVMTFPURAHIF1A0.8249757885.07E-21
UVMTFPURAADNP20.825057354.99E-21
UVMTFPURAZNF4840.8250914264.96E-21
UVMTFPURALIN540.8252677954.78E-21
UVMTFPURAZNF2230.8254333214.62E-21
UVMTFPURAZNF280.8260235254.10E-21
UVMTFPURAZNF1810.8268170893.49E-21
UVMTFPURAZNF585A0.8275839962.98E-21
UVMTFPURAZNF6750.8279016222.79E-21
UVMTFPURAZNF7000.8300131351.80E-21
UVMTFPURAZBTB60.8305046981.62E-21
UVMTFPURAZNF7820.8305799191.60E-21
UVMTFPURATHAP50.8308022241.52E-21
UVMTFPURAZNF8000.8318466181.22E-21
UVMTFPURAAHCTF10.8321002271.16E-21
UVMTFPURAJRKL0.832118681.15E-21
UVMTFPURAZNF4490.8322930381.11E-21
UVMTFPURAIKZF50.8324575271.07E-21
UVMTFPURAELK30.8340972747.56E-22
UVMTFPURABACH10.8347424756.58E-22
UVMTFPURAZNF6580.8355427365.53E-22
UVMTFPURAZNF440.8364255424.57E-22
UVMTFPURAZNF2340.8371033873.94E-22
UVMTFPURAZNF170.8390909152.54E-22
UVMTFPURAVEZF10.8405441831.83E-22
UVMTFPURADMTF10.8420944341.29E-22
UVMTFPURAZNF810.8431976641.01E-22
UVMTFPURAZNF3970.8453700026.10E-23
UVMTFPURAZNF3470.8459366625.34E-23
UVMTFPURAZNF410.8460356025.22E-23
UVMTFPURANFXL10.8467983084.37E-23
UVMTFPURACREB10.8479308833.34E-23
UVMTFPURAZNF4320.8481519513.17E-23
UVMTFPURATOPORS0.8485192362.91E-23
UVMTFPURAZNF6110.8491866612.48E-23
UVMTFPURAARID20.8510714461.58E-23
UVMTFPURAZNF450.852007761.26E-23
UVMTFPURAZNF2360.8524358791.13E-23
UVMTFPURANR3C10.8542922437.17E-24
UVMTFPURASMAD40.8546287696.60E-24
UVMTFPURACLOCK0.8549664896.07E-24
UVMTFPURATHAP60.8556074855.17E-24
UVMTFPURAELF10.8567250833.90E-24
UVMTFPURAZNF4410.8569690033.67E-24
UVMTFPURAZNF1800.8578769282.92E-24
UVMTFPURAZNF585B0.8580131882.82E-24
UVMTFPURANR2C10.8591738242.09E-24
UVMTFPURAZNF1310.8594525491.95E-24
UVMTFPURAATF10.8604163911.52E-24
UVMTFPURAZBTB10.8613772781.18E-24
UVMTFPURAAEBP20.8616373461.10E-24
UVMTFPURAZNF3830.8628498698.02E-25
UVMTFPURAZNF7910.8639822245.94E-25
UVMTFPURAZNF7010.864203925.60E-25
UVMTFPURAATF20.8687231331.63E-25
UVMTFPURAGPBP10.8703904621.03E-25
UVMTFPURAYY10.8712639268.02E-26
UVMTFPURAMEF2A0.8744472523.22E-26
UVMTFPURAZNF4300.8747997922.90E-26
UVMTFPURAZNF1360.8792535137.72E-27
UVMTFPURASMAD50.8844169281.55E-27
UVMTFPURAPRDM100.8902610942.30E-28
UVMTFPURASP30.9091233522.12E-31
UVMTSGPURARFWD20.8008193234.81E-19
UVMTSGPURAANXA70.8008838744.75E-19
UVMTSGPURAUSP120.8038708262.80E-19
UVMTSGPURAMAPK90.8050000652.29E-19
UVMTSGPURAIFT880.8056092812.05E-19
UVMTSGPURAPALB20.8061834731.85E-19
UVMTSGPURAMSH20.8074098441.48E-19
UVMTSGPURARB1CC10.8125600635.71E-20
UVMTSGPURARB10.8125911365.68E-20
UVMTSGPURAAPAF10.8129100695.35E-20
UVMTSGPURASHPRH0.8158499953.06E-20
UVMTSGPURAVEZT0.8195319411.50E-20
UVMTSGPURAPDS5B0.8200547551.35E-20
UVMTSGPURAUSP330.8228927487.72E-21
UVMTSGPURAKDM5A0.8236305036.66E-21
UVMTSGPURAITGAV0.8242098275.92E-21
UVMTSGPURAHIF1A0.8249757885.07E-21
UVMTSGPURACDKN1B0.8255272384.54E-21
UVMTSGPURACCAR10.8286031892.41E-21
UVMTSGPURARBL20.8305323341.61E-21
UVMTSGPURAAPC0.833640888.34E-22
UVMTSGPURABMPR1A0.8346370116.73E-22
UVMTSGPURAFAM188A0.8346910296.66E-22
UVMTSGPURASIRT10.8367174894.28E-22
UVMTSGPURAATM0.8367533954.25E-22
UVMTSGPURAMLH30.8377166573.44E-22
UVMTSGPURARINT10.8383647252.98E-22
UVMTSGPURAUHRF20.838433612.94E-22
UVMTSGPURADMTF10.8420944341.29E-22
UVMTSGPURAZMYND110.8439781358.41E-23
UVMTSGPURAGORAB0.8442750317.85E-23
UVMTSGPURAINTS60.8447409147.05E-23
UVMTSGPURATOPORS0.8485192362.91E-23
UVMTSGPURACSNK1A10.8491273052.52E-23
UVMTSGPURACUL50.8505868831.77E-23
UVMTSGPURANEDD40.8510074631.60E-23
UVMTSGPURAARID20.8510714461.58E-23
UVMTSGPURASMAD40.8546287696.60E-24
UVMTSGPURABMPR20.8546941246.49E-24
UVMTSGPURATANK0.8552218165.69E-24
UVMTSGPURACHD10.856638453.99E-24
UVMTSGPURADICER10.8566469573.98E-24
UVMTSGPURAPPM1A0.8571537663.50E-24
UVMTSGPURAGGNBP20.864985184.54E-25
UVMTSGPURADCLRE1A0.8676566112.19E-25
UVMTSGPURACDC730.870404681.02E-25
UVMTSGPURACUL20.8768389031.59E-26
UVMTSGPURAKRIT10.8841361641.70E-27
UVMTSGPURASMCHD10.8852870361.18E-27
UVMTSGPURAPRKAA10.8885420694.08E-28
UVMTSGPURASUZ120.8926989231.00E-28
UVMTSGPURAWDR110.8939512376.52E-29


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Protein structure


check button Protein 3D structure
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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
KICHPURAMCM31.22906163049570.000139892101287842
HNSCPURAMDH2-1.455857927279160.000172794781747143
KIRPPURAADK2.082389811080070.000256400555372238
KICHPURAFMR11.783101788130690.00102710723876953
KIRPPURAMCM3-1.565917802129020.00114433001726866
CHOLPURAGNPTAB-1.803235900851810.00390625
CHOLPURAPOLA1-4.888927252980850.00390625
ESCAPURAMCM3-5.394650503780020.0048828125
LUADPURAADK1.488314213985140.00570943489529292
KIRPPURAFMR1-1.942848226249480.0099095250479877
KIRPPURAPURB-1.868729494743210.0105091729201376
KICHPURAPOLA1-1.262468575593790.0159729719161987
HNSCPURAPURB1.028707942137120.0165749692632744
CHOLPURAPURB-2.112346219213190.01953125
BRCAPURAGNPTAB1.194216632797830.023899962130957
BRCAPURAFMR1-2.740536112550860.0481383834499222
KIRCPURAFMR1-2.354069165436641.12145348829767e-07
LUADPURAGNPTAB-1.164479364888551.13396900342584e-05
LIHCPURAMCM3-1.822264522273981.19014679269443e-09
HNSCPURAFMR1-2.726069870345861.37760207508109e-06
LIHCPURAMCM8-1.37749461958872.17397650760512e-07
BRCAPURAMDH2-1.471725420061042.17909214563582e-11
LUADPURAMCM3-2.241486461596163.16320496270304e-09
BRCAPURAPOLA11.315612276655083.7777772677383e-05
LUADPURAMCM8-11.43287036136874.36641792271383e-10
LIHCPURAADK-1.57670909312624.64150644319947e-09
BRCAPURAYBX11.104672419664514.8741280959683e-05
LUADPURAMDH2-3.037394911937525.31997757053803e-10
COADPURAADK-4.938816431108315.38075767948408e-05
KIRCPURAMCM81.614448537646186.02390727604811e-08
LUADPURAPOLA1-1.913101778171876.05809956862828e-05
KICHPURAYBX11.869232591604728.16583633422851e-06


check button Protein-protein interactors with this translation factor (BIOGRID-3.4.160)
PPI interactors with PURA
CNBP, CCNT1, SP1, E2F1, HNRNPA1, MEPCE, UBC, POU5F1, EIF2AK2, CUL3, CUL1, CAND1, PURB, ZNF638, RFC3, DDX23, RFC2, POLA1, RB1, IL7R, IGSF8, ICAM1, TARDBP, LIN28A, LIN28B, RAF1, BMI1, SURF2, ZC3H3, RPS8, PRR11, NTRK1, SNW1, WDR46, ZCRB1, HIST1H1E, RRS1, G3BP1, HNRNPL, TRIM14, TNIP2, RIOK1, LARP7, AGO2, SNAI1, HRAS, HABP4, SERBP1, MB21D1, WDR76, HIST1H4A, HIST1H2BB, HIST1H2AB, RAB11A, RC3H1, RC3H2, ATG16L1, OASL, P2RY6, SNRNP70, tat, BRD7, ARIH2, PLEKHA4, PTEN, MIRLET7A1, MIRLET7A3, MIRLET7B, MIRLET7C, MIRLET7D, MIRLET7E, MIRLET7F1, MIRLET7F2, MIRLET7G, MIRLET7I, MIR1-1, MIR7-1, MIR7-2, MIR9-2, MIR15B, MIR16-2, MIR17, MIR18B, MIR19A, MIR19B1, MIR19B2, MIR20B, MIR21, MIR25, MIR29B1, MIR29C, MIR31, MIR34A, MIR34B, MIR34C, MIR92A2, MIR93, MIR106B, MIR122, MIR128-1, MIR128-2, MIR140, MIR143, MIR155, MIR199A1, MIR200C, MIR205, MIR221, MIR222, MIR363, MIR429, ZC3H18, ESR1, MAD2L2, KIF23, MKI67, ZNF263, MAFB, RBM39, MKRN1, IFI16, CUL4A, NHP2, OGT, DDRGK1, FZR1, SRSF5, FAM120A, NEIL1, RPL19, ABT1, HIST1H2AM, RPL17, ADARB1, MAGEB2, HIST1H1C, RPS10, RPL23AP32, LLPH, H2AFB2, HIST1H1B, MYBBP1A, RPL23A, H2AFB3, PRR3, SRSF3, HIST2H2AC, RBM19, DDX21, LYAR, SRSF6, RSL1D1, RPS19, FGF8, REXO4, RPS6, HIST1H1D, YBX2, KRR1, RPL15, RBMS2, SRSF4, RPSAP58, PURG, RPS3, DGCR8, RPL13, RPL3, ZNF668, RPLP0, SURF6, RPL31, ZNF71, ZNF346, RPL35, RPL14, PRKRA, RPSA, RNF151, RPL13A, RRP9, FGFBP1, HIST1H1A, RPL4, EP300, FBXW7, TMPRSS11B, TMPRSS4, CPEB1,


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Mutations


check button Clinically associated variants from ClinVar.
GeneChrPositionRefSeqVarSeqRefSeeqVarTypePathogenicDiseaseVarInfo
PURAchr5139493745CGCGGCAGCGGAGCGCAGCATCATGGCGGACCGAGACACDeletionLikely_pathogenicMental_retardation,_autosomal_dominant_31SO:0001582|initiatior_codon_variant,SO:0001589|frameshift_variantSO:0001582|initiatior_codon_variant,SO:0001589|frameshift_variant
PURAchr5139493767AGsingle_nucleotide_variantPathogenicMental_retardation,_autosomal_dominant_31|not_providedSO:0001582|initiatior_codon_variant,SO:0001583|missense_variantSO:0001582|initiatior_codon_variant,SO:0001583|missense_variant
PURAchr5139493767ATsingle_nucleotide_variantPathogenicMental_retardation,_autosomal_dominant_31SO:0001582|initiatior_codon_variant,SO:0001583|missense_variantSO:0001582|initiatior_codon_variant,SO:0001583|missense_variant
PURAchr5139493769GGCGGAGDeletionPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493770GCGGACGDeletionPathogenicInborn_genetic_diseasesSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493772GGGACCDuplicationPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493776CTsingle_nucleotide_variantPathogenicMental_retardation,_autosomal_dominant_31SO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139493780ACADeletionLikely_pathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493780ACAGCGGCAGCGCIndelPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493793GAsingle_nucleotide_variantBenignnot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139493800GTsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493802TGCGGCGCTGGGTTCGGTDeletionPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493803GCGDeletionPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493806GCsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityMental_retardation,_autosomal_dominant_31|History_of_neurodevelopmental_disorderSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493808GAsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139493809CAsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493810TTGGGTTCGGGCGGCTCCDuplicationPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493815TCTDeletionLikely_pathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493816CCGDuplicationPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493817GCsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139493817GTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139493824TCsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493828TTGDuplicationPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493828TGTDeletionLikely_pathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493829GTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139493836CGsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493836CTsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493838CCGGCTCGDuplicationConflicting_interpretations_of_pathogenicityMental_retardation,_autosomal_dominant_31|not_providedSO:0001821|inframe_insertionSO:0001821|inframe_insertion
PURAchr5139493839GAsingle_nucleotide_variantUncertain_significanceHistory_of_neurodevelopmental_disorderSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493843CAsingle_nucleotide_variantPathogenicMental_retardation,_autosomal_dominant_31SO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139493848TCsingle_nucleotide_variantUncertain_significanceInborn_genetic_diseasesSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493850AGGCTCCADeletionUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139493855CCCGGCGGGGGCGGTGGTGGDuplicationUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001821|inframe_insertionSO:0001821|inframe_insertion
PURAchr5139493855CCGGCGGGGGCGGTGGTGGCDeletionUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139493858GCGDeletionPathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493859CGCDeletionPathogenicEpileptic_encephalopathy|not_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493862GGGCGGTGGTGGCGDeletionUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139493865CGCDeletionPathogenicInborn_genetic_diseasesSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493866GAsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493866GGTGGTGGCGGCGGGGGCGGCGGCGGCAGDeletionUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139493871TCsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31|History_of_neurodevelopmental_disorderSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139493871TTGGCGGCGGGDuplicationUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001821|inframe_insertionSO:0001821|inframe_insertion
PURAchr5139493871TGGCGGCGGGTDeletionConflicting_interpretations_of_pathogenicityMental_retardation,_autosomal_dominant_31|History_of_neurodevelopmental_disorder|not_providedSO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139493871TGGCGGCGGGGGCGGCGGCGGCAGTGGCTDeletionUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139493871TGGCGGCGGGGGCGGCGGCGGCAGTGGCGGCGGCTDeletionUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139493875GTsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493876GCsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493877CCGDuplicationPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493880GGGGCGGCGGCGGCAGTDuplicationLikely_benignMental_retardation,_autosomal_dominant_31SO:0001821|inframe_insertionSO:0001821|inframe_insertion
PURAchr5139493880GGGGCGGCGGCGGCAGTGGCGGCDuplicationLikely_benignMental_retardation,_autosomal_dominant_31SO:0001821|inframe_insertionSO:0001821|inframe_insertion
PURAchr5139493880GGGCGGCGGCGGCAGTGDeletionLikely_benignMental_retardation,_autosomal_dominant_31SO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139493880GGGCGGCGGCGGCAGTGGCGGCGGCGDeletionLikely_benignMental_retardation,_autosomal_dominant_31|not_providedSO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139493883CCGGCGGCGGCAGTDuplicationUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001821|inframe_insertionSO:0001821|inframe_insertion
PURAchr5139493883CGCDeletionPathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493883CGGCGGCGGCAGTCDeletionUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139493887GGGCGGCADuplicationConflicting_interpretations_of_pathogenicityMental_retardation,_autosomal_dominant_31|not_specified|not_providedSO:0001821|inframe_insertionSO:0001821|inframe_insertion
PURAchr5139493892CAGTGCDeletionPathogenicInborn_genetic_diseasesSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493893AGsingle_nucleotide_variantLikely_benignnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493895TTGGCMicrosatelliteConflicting_interpretations_of_pathogenicityMental_retardation,_autosomal_dominant_31|History_of_neurodevelopmental_disorder|not_specified|not_providedSO:0001821|inframe_insertionSO:0001821|inframe_insertion
PURAchr5139493895TTGGCGGCMicrosatelliteLikely_benignMental_retardation,_autosomal_dominant_31SO:0001821|inframe_insertionSO:0001821|inframe_insertion
PURAchr5139493895TGGCTMicrosatelliteBenign/Likely_benignMental_retardation,_autosomal_dominant_31|not_providedSO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139493895TGGCGGCTMicrosatelliteUncertain_significanceMental_retardation,_autosomal_dominant_31|not_providedSO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139493895TGGCGGCGGCTMicrosatelliteUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139493901CGCDeletionLikely_pathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493904CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139493907CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139493909GCGDeletionPathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493910CGCDeletionPathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493911GGGGGCCCCADuplicationPathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493912GTsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493918CACDeletionPathogenicInborn_genetic_diseases|History_of_neurodevelopmental_disorderSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493919AAGDuplicationPathogenicIntellectual_disability|PURA-related_severe_neonatal_hypotonia-seizures-encephalopathy_syndrome_due_to_a_point_mutation|Mental_retardation,_autosomal_dominant_31|not_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493921GAsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493921GTsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493929CTsingle_nucleotide_variantPathogenicMental_retardation,_autosomal_dominant_31|not_providedSO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139493931GAsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139493934CCGAMicrosatellitePathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493935GCsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493939CCTInsertionPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139493941CTsingle_nucleotide_variantPathogenicMental_retardation,_autosomal_dominant_31SO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139493944GTsingle_nucleotide_variantPathogenicMental_retardation,_autosomal_dominant_31SO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139493968AGsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493971CTsingle_nucleotide_variantPathogenicMental_retardation,_autosomal_dominant_31|not_providedSO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139493977AGsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493987AGsingle_nucleotide_variantLikely_pathogenicSee_casesSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493990TCsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493990TGsingle_nucleotide_variantPathogenicMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139493994CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139493997GTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494006CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31|History_of_neurodevelopmental_disorderSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494007GAsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494011AGADeletionLikely_pathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494021CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494028ATCGADeletionPathogenicIntellectual_disability|Delayed_speech_and_language_development|Global_developmental_delay|Seizures|Neonatal_hypotoniaSO:0001820|inframe_indelSO:0001820|inframe_indel
PURAchr5139494029TCsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494029TCTDeletionPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494031GAsingle_nucleotide_variantUncertain_significanceNeurodevelopmental_disorderSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494031GCsingle_nucleotide_variantPathogenicIntellectual_disability|Delayed_speech_and_language_development|Global_developmental_delay|Seizures|Neonatal_hypotoniaSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494031GCGDeletionPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494033CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494034GAsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494034GCsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494036GAsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494044CTsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494044CGCDeletionPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494045GAsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494055AGsingle_nucleotide_variantPathogenicIntellectual_disability|Delayed_speech_and_language_development|Global_developmental_delay|Seizures|Neonatal_hypotonia|Mental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494063CCTTACTCTCTCCATGTCACDeletionLikely_pathogenicMental_retardation,_autosomal_dominant_31SO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139494065TCsingle_nucleotide_variantLikely_pathogenicIntellectual_disability|Delayed_speech_and_language_development|Global_developmental_delay|Seizures|Neonatal_hypotonia|Mental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494066TGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494066TACTCTCTCCTDeletionPathogenicMental_retardation,_autosomal_dominant_31|not_providedSO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139494067AACTMicrosatellitePathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494067ACTAMicrosatellitePathogenicIntellectual_disability|Delayed_speech_and_language_development|Global_developmental_delay|Neonatal_hypotonia|Mental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494069TGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494071TCsingle_nucleotide_variantLikely_pathogenicInborn_genetic_diseasesSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494071TGsingle_nucleotide_variantPathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494072CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494077TGTDeletionPathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494081AGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494087CGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494087CTsingle_nucleotide_variantBenign/Likely_benignMental_retardation,_autosomal_dominant_31|History_of_neurodevelopmental_disorder|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494091GTsingle_nucleotide_variantPathogenicnot_providedSO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139494100GCsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494105CGsingle_nucleotide_variantPathogenicMental_retardation,_autosomal_dominant_31SO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139494116TCsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494128AACGMicrosatellitePathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494129CGsingle_nucleotide_variantPathogenicIntellectual_disability|Delayed_speech_and_language_development|Global_developmental_delay|Seizures|Neonatal_hypotonia|not_providedSO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139494133CTsingle_nucleotide_variantPathogenicnot_providedSO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139494135GAsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494141CGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494142CCCCAGMicrosatelliteLikely_pathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494144CCADuplicationPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494146GGCDuplicationPathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494151CTsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494153GAsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494153GCsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494156GAsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494156GCsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494160CGsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494165CGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494168GGGCGCAGGACGAGCCDuplicationLikely_pathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494170CGCAGGACGAGCCGCGCCGGGCGCTCAAAACDeletionPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494172CTsingle_nucleotide_variantPathogenicMental_retardation,_autosomal_dominant_31SO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139494185GCsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494187CAsingle_nucleotide_variantLikely_benignHistory_of_neurodevelopmental_disorderSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494187CCGDuplicationPathogenicPURA_SyndromeSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494192GAsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494193CGsingle_nucleotide_variantUncertain_significanceInborn_genetic_diseasesSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494196AGsingle_nucleotide_variantLikely_pathogenicIntellectual_disability|Mental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494198ACsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494198AGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494213GCGCGAGAAGDeletionLikely_pathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494216CCGAGAACCGCAAGTACTACATGGATCTCAAGDuplicationLikely_pathogenicInborn_genetic_diseasesSO:0001821|inframe_insertionSO:0001821|inframe_insertion
PURAchr5139494216CGsingle_nucleotide_variantBenign/Likely_benignMental_retardation,_autosomal_dominant_31|History_of_neurodevelopmental_disorder|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494216CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494217GTsingle_nucleotide_variantPathogenicnot_providedSO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139494224GCsingle_nucleotide_variantPathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494224GGCDuplicationPathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494228GAsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494231CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494236TAsingle_nucleotide_variantPathogenicIntellectual_disability|Delayed_speech_and_language_development|Global_developmental_delay|Neonatal_hypotoniaSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494238GTsingle_nucleotide_variantLikely_pathogenicInborn_genetic_diseasesSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494241CGsingle_nucleotide_variantUncertain_significanceInborn_genetic_diseasesSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494243CGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494243CAAGCDeletionUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139494244AGsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494246GAsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494250AGsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494252CGsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494253CTsingle_nucleotide_variantPathogenicMental_retardation,_autosomal_dominant_31|not_providedSO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139494257GGCGGCDuplicationPathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494258CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494259GAsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494259GCsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494260GAsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494261CGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494262CAsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494262CTsingle_nucleotide_variantLikely_pathogenicMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494264CGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494266TTCDuplicationPathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494267CGsingle_nucleotide_variantUncertain_significanceGlobal_developmental_delay-visual_anomalies-progressive_cerebellar_atrophy-truncal_hypotonia_syndromeSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494269TCsingle_nucleotide_variantLikely_pathogenicMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494270GCTTIndelUncertain_significancenot_specifiedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494272GCsingle_nucleotide_variantPathogenicInborn_genetic_diseasesSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494272GCATCCGCGDeletionPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494275TGsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494277CGsingle_nucleotide_variantLikely_pathogenicMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494283AGsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494284CAsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494285GCsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494291CTsingle_nucleotide_variantLikely_benignnot_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494292CGCDeletionPathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494294GCsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494294GGGGGCCTGGCCTGGGCTCCACGCADuplicationPathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494297GCsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31|History_of_neurodevelopmental_disorderSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494297GGCDuplicationPathogenicInborn_genetic_diseasesSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494298CCCTGGCCTGGGCTCCACGCAGGGDuplicationLikely_pathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494300TGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494303CGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494303CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494309CAsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494309CTsingle_nucleotide_variantBenign/Likely_benignMental_retardation,_autosomal_dominant_31|History_of_neurodevelopmental_disorder|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494322CTsingle_nucleotide_variantPathogenicIntellectual_disability|Delayed_speech_and_language_development|Global_developmental_delay|Seizures|Neonatal_hypotonia|Mental_retardation,_autosomal_dominant_31SO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139494326CCATTGCGCTGCCCGCGCDeletionLikely_pathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494329TCsingle_nucleotide_variantLikely_pathogenicMental_retardation,_autosomal_dominant_31|Inborn_genetic_diseasesSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494330TCsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494331GCsingle_nucleotide_variantLikely_pathogenicMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494338CTsingle_nucleotide_variantLikely_pathogenicInborn_genetic_diseases|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494339CGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494342GTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494348GCsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494348GTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31|not_specifiedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494350TAsingle_nucleotide_variantUncertain_significanceInborn_genetic_diseasesSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494351CGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494361CTsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494362GCsingle_nucleotide_variantPathogenic/Likely_pathogenicIntellectual_disability|Delayed_speech_and_language_development|Global_developmental_delay|Seizures|Neonatal_hypotonia|Mental_retardation,_autosomal_dominant_31|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494363TCsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494369TCsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494369TGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494371TCsingle_nucleotide_variantLikely_pathogenicMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494374CTsingle_nucleotide_variantUncertain_significancenot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494379CTCACDeletionLikely_pathogenicnot_providedSO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139494380TCsingle_nucleotide_variantLikely_pathogenicMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494381CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494382ATsingle_nucleotide_variantPathogenicMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494384CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494384CGACGACTCDeletionPathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494387CTsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityMental_retardation,_autosomal_dominant_31|History_of_neurodevelopmental_disorder|not_specified|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494396ACsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494400GCsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494404ATsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494405GGGAGCCDuplicationPathogenicInborn_genetic_diseasesSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494406GTsingle_nucleotide_variantPathogenic/Likely_pathogenicGeneralized_hypotonia|Apnea|Limb_dystonia|Mental_retardation,_autosomal_dominant_31SO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139494411GGCCGAGCTGCCCGAGDeletionPathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494414CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494423CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494435CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494440CTsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494440CTGCMicrosatellitePathogenicIntellectual_disability|Mental_retardation,_autosomal_dominant_31|Inborn_genetic_diseases|not_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494443TTGGACTGAInsertionPathogenicInborn_genetic_diseasesSO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139494451ATsingle_nucleotide_variantPathogenicnot_providedSO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139494455GCTTGMicrosatellitePathogenic/Likely_pathogenicMental_retardation,_autosomal_dominant_31|Inborn_genetic_diseases|not_providedSO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139494458TCsingle_nucleotide_variantPathogenicInborn_genetic_diseasesSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494459CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494462CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494468TCsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494468TGTDeletionPathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494470TGsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494475TTCDuplicationPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494476CTsingle_nucleotide_variantLikely_pathogenicMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494480CACDeletionPathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494486CGsingle_nucleotide_variantPathogenicMental_retardation,_autosomal_dominant_31SO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139494489CGTCMicrosatellitePathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494490GGTDuplicationPathogenicMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494492GCsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494495TCsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494499CTsingle_nucleotide_variantPathogenicnot_providedSO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139494500GCsingle_nucleotide_variantPathogenicMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494501AGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494507CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494509AGADeletionPathogenicnot_providedSO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139494525TCsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494535AGsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494543GAsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494543GCsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494545CGsingle_nucleotide_variantLikely_pathogenicMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494545CTsingle_nucleotide_variantConflicting_interpretations_of_pathogenicityMental_retardation,_autosomal_dominant_31|not_providedSO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494549CGsingle_nucleotide_variantPathogenicIntellectual_disability|Delayed_speech_and_language_development|Global_developmental_delay|Seizures|Neonatal_hypotoniaSO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139494551AGGTADeletionUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139494555GCsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494568GTsingle_nucleotide_variantPathogenicnot_providedSO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139494569GACGMicrosatelliteLikely_pathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494570ACsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31|not_providedSO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494570AGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494575CCTTCDeletionPathogenicIntellectual_disability|Delayed_speech_and_language_development|Global_developmental_delay|Seizures|Neonatal_hypotonia|Mental_retardation,_autosomal_dominant_31|not_providedSO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139494592GTsingle_nucleotide_variantLikely_pathogenicnot_providedSO:0001587|nonsenseSO:0001587|nonsense
PURAchr5139494607ATADeletionLikely_pathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494645GCAGCTTCACGDeletionUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001822|inframe_deletionSO:0001822|inframe_deletion
PURAchr5139494660GGCDuplicationUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494663AACAGMicrosatelliteUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001821|inframe_insertionSO:0001821|inframe_insertion
PURAchr5139494663ACADeletionLikely_pathogenicnot_providedSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494684CGsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494684CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001819|synonymous_variantSO:0001819|synonymous_variant
PURAchr5139494685GAsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494686CTsingle_nucleotide_variantLikely_benignMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494688GAsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494688GCTGCCACCCTGCTAGDeletionPathogenicInborn_genetic_diseasesSO:0001589|frameshift_variantSO:0001589|frameshift_variant
PURAchr5139494691GCsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494707ACsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494716ATsingle_nucleotide_variantUncertain_significanceMental_retardation,_autosomal_dominant_31SO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494721GCsingle_nucleotide_variantUncertain_significanceIntellectual_disabilitySO:0001583|missense_variantSO:0001583|missense_variant
PURAchr5139494754CCCAMicrosatelliteBenignnot_providedSO:0001624|3_prime_UTR_variantSO:0001624|3_prime_UTR_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
PURALUADchr5139493896139493898GGC-In_Frame_Delp.G49del4
PURAPAADchr5139494240139494240TGMissense_Mutationp.D158E3
PURASTADchr5139494404139494404ACMissense_Mutationp.E213A2
PURABLCAchr5139494256139494256CTMissense_Mutationp.R164C2
PURAESCAchr5139494603139494603GASilent2
PURAPAADchr5139494240139494240TGMissense_Mutation2
PURAESCAchr5139494603139494603GASilentp.K279K2
PURACESCchr5139494400139494400GCMissense_Mutation2
PURALGGchr5139494544139494544CTMissense_Mutationp.P260S1
PURABLCAchr5139494469139494469GTMissense_Mutationp.V235L1
PURASKCMchr5139494291139494291CTSilentp.N175N1
PURACESCchr5139494400139494400GCMissense_Mutationp.E212Q1
PURALGGchr5139494544139494544CTMissense_Mutation1
PURABLCAchr5139494494139494494TGMissense_Mutationp.F243C1
PURASKCMchr5139494086139494086CTMissense_Mutationp.A107V1
PURACOADchr5139494754139494755-CA3'UTR.1
PURALIHCchr5139494721139494721G-Frame_Shift_Delp.G319fs1
PURABLCAchr5139494117139494117CTSilentp.F117F1
PURASKCMchr5139494456139494458CTT-In_Frame_Delp.RF230del1
PURACOADchr5139494992139494993-A3'UTR.1
PURALUADchr5139494510139494510GTMissense_Mutationp.E248D1
PURABLCAchr5139494643139494643GAMissense_Mutationp.E293K1
PURAESCAchr5139494597139494597GTMissense_Mutationp.E277D1
PURABLCAchr5139494615139494615GASilent1
PURABLCAchr5139494276139494276CTSilentp.I170I1
PURATHCAchr5139494097139494098-AFrame_Shift_Insp.R111fs1
PURAESCAchr5139494603139494603GASilentp.K2791
PURABLCAchr5139494494139494494TGMissense_Mutation1
PURALUSCchr5139494223139494223CTMissense_Mutationp.R153C1
PURABLCAchr5139494643139494643GAMissense_Mutation1
PURABLCAchr5139494639139494639CGSilentp.A291A1
PURAESCAchr5139494597139494597GTMissense_Mutation1
PURABLCAchr5139494276139494276CTSilent1
PURABLCAchr5139494679139494679GTNonsense_Mutationp.E305*1
PURABLCAchr5139494256139494256CTMissense_Mutation1
PURASARCchr5139494445139494445GTMissense_Mutation1
PURACESCchr5139494072139494072CTSilent1
PURAHNSCchr5139494356139494356ATMissense_Mutation1
PURABLCAchr5139494639139494639CGSilent1
PURASKCMchr5139494456139494458CTT-In_Frame_Delp.230_231del1
PURALGGchr5139494027139494027GASilentp.K87K1
PURABLCAchr5139494615139494615GASilentp.E283E1
PURASKCMchr5139494170139494170CAMissense_Mutationp.A135E1
PURACESCchr5139494132139494132GASilent1

check buttonCopy number variation (CNV) of PURA
* 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 PURA
* 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
47532N/AT24782DLGAP5chr1455629743+PURAchr5139494921+
81471N/ACF140519PURAchr5139493698-ARPC5Lchr9127631472+


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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


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Translation factor and Gender


check button Differential gene expression between female and male. (Wilcoxon test, pval<0.05)
all structure
Cancer typeTranslation factorpvaladj.p
TGCTPURA0.000643930782529130.018
LIHCPURA0.01335003739585240.36
SARCPURA0.0304577215373770.79
KIRPPURA0.03886056635677210.97
READPURA0.04360537837830481
COADPURA0.04469929483898841
THCAPURA0.04529799894342881

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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
STADPURA0.002979317528046570.092
LUADPURA0.0005583325100551450.018
THCAPURA0.007747965659441780.23
LGGPURA0.01250192426567110.36
BRCAPURA0.0003448595198104680.011
PCPGPURA0.03639428231496390.98
THYMPURA0.01482963052685640.42

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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

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Related Diseases


check button Diseases associated with this translation factor.
(DisGeNet 4.0)
Disease IDDisease Name# PubMedsDisease source
C4015357MENTAL RETARDATION, AUTOSOMAL DOMINANT 312CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
C0014544Epilepsy1CTD_human
C0086237Epilepsy, Cryptogenic1CTD_human
C0751111Awakening Epilepsy1CTD_human