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Center for Computational Systems Medicine level2
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein Structure

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pLDDT scores

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Ramachandran Plot of Fusion Protein Structure

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:PTPRC-STAG1

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: PTPRC-STAG1
FusionPDB ID: 70335
FusionGDB2.0 ID: 70335
HgeneTgene
Gene symbol

PTPRC

STAG1

Gene ID

5788

56937

Gene nameprotein tyrosine phosphatase receptor type Cprostate transmembrane protein, androgen induced 1
SynonymsB220|CD45|CD45R|GP180|L-CA|LCA|LY5|T200STAG1|TMEPAI
Cytomap

1q31.3-q32.1

20q13.31

Type of geneprotein-codingprotein-coding
Descriptionreceptor-type tyrosine-protein phosphatase CCD45 antigenT200 glycoproteinT200 leukocyte common antigenprotein tyrosine phosphatase, receptor type, c polypeptideprotein TMEPAIsolid tumor-associated 1 proteintransmembrane, prostate androgen induced RNA
Modification date2020032720200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST idsENST00000391970, ENST00000348564, 
ENST00000352140, ENST00000367364, 
ENST00000367376, ENST00000413409, 
ENST00000442510, ENST00000594404, 
ENST00000598951, 
ENST00000236698, 
ENST00000383202, ENST00000434713, 
ENST00000480733, ENST00000536929, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score6 X 6 X 3=10816 X 17 X 8=2176
# samples 623
** MAII scorelog2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(23/2176*10)=-3.24197279030596
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: PTPRC [Title/Abstract] AND STAG1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)PTPRC(198661502)-STAG1(136096594), # samples:2
Anticipated loss of major functional domain due to fusion event.PTPRC-STAG1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
PTPRC-STAG1 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
PTPRC-STAG1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
PTPRC-STAG1 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
PTPRC-STAG1 seems lost the major protein functional domain in Hgene partner, which is a CGC due to the frame-shifted ORF.
PTPRC-STAG1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
PTPRC-STAG1 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
PTPRC-STAG1 seems lost the major protein functional domain in Hgene partner, which is a tumor suppressor due to the frame-shifted ORF.
PTPRC-STAG1 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
PTPRC-STAG1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgenePTPRC

GO:0006469

negative regulation of protein kinase activity

9197241

HgenePTPRC

GO:0032677

regulation of interleukin-8 production

12100025

HgenePTPRC

GO:0050764

regulation of phagocytosis

12100025

HgenePTPRC

GO:0050852

T cell receptor signaling pathway

10358156

HgenePTPRC

GO:0061097

regulation of protein tyrosine kinase activity

12100025

TgeneSTAG1

GO:0010991

negative regulation of SMAD protein complex assembly

20129061

TgeneSTAG1

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

24627487

TgeneSTAG1

GO:0060394

negative regulation of pathway-restricted SMAD protein phosphorylation

24627487


check buttonFusion gene breakpoints across PTPRC (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across STAG1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-BR-8284-01APTPRCchr1

198661502

+STAG1chr3

136096594

-
ChimerDB4STADTCGA-BR-8284PTPRCchr1

198661502

+STAG1chr3

136096594

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000598951PTPRCchr1198661502+ENST00000383202STAG1chr3136096594-4590107110772570497
ENST00000598951PTPRCchr1198661502+ENST00000236698STAG1chr3136096594-4478107110772459460
ENST00000598951PTPRCchr1198661502+ENST00000434713STAG1chr3136096594-3333107110772468463
ENST00000367364PTPRCchr1198661502+ENST00000383202STAG1chr3136096594-45099909962489497
ENST00000367364PTPRCchr1198661502+ENST00000236698STAG1chr3136096594-43979909962378460
ENST00000367364PTPRCchr1198661502+ENST00000434713STAG1chr3136096594-32529909962387463

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000598951ENST00000383202PTPRCchr1198661502+STAG1chr3136096594-0.0001161620.9998838
ENST00000598951ENST00000236698PTPRCchr1198661502+STAG1chr3136096594-0.0001060470.9998939
ENST00000598951ENST00000434713PTPRCchr1198661502+STAG1chr3136096594-0.0001303830.9998696
ENST00000367364ENST00000383202PTPRCchr1198661502+STAG1chr3136096594-0.0001127890.9998872
ENST00000367364ENST00000236698PTPRCchr1198661502+STAG1chr3136096594-0.0001037390.9998963
ENST00000367364ENST00000434713PTPRCchr1198661502+STAG1chr3136096594-0.0001267930.99987316

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>70335_70335_1_PTPRC-STAG1_PTPRC_chr1_198661502_ENST00000367364_STAG1_chr3_136096594_ENST00000236698_length(amino acids)=460AA_BP=
MLVLRKTVKSFLAVCQQCLSNVNTPVKEQAFMLLCDLLMIFSHQLMTGGREGLQPLVFNPDTGLQSELLSFVMDHVFIDQDEENQSMEGD
EEDEANKIEALHKRRNLLAAFSKLIIYDIVDMHAAADIFKHYMKYYNDYGDIIKETLSKTRQIDKIQCAKTLILSLQQLFNELVQEQGPN
LDRTSAHVSGIKELARRFALTFGLDQIKTREAVATLHKDGIEFAFKYQNQKGQEYPPPNLAFLEVLSEFSSKLLRQDKKTVHSYLEKFLT
EQMMERREDVWLPLISYRNSLVTGGEDDRMSVNSGSSSSKTSSVRNKKGRPPLHKKRVEDESLDNTWLNRTDTMIQTPGPLPAPQLTSTV
LRENSRPMGDQIQEPESEHGSEPDFLHNRGLMEEDAEPIFEDVMMSSRSQLEDMNEEFEDTMVIDLPPSRNRRERAELRPDFFDSAAIIE

--------------------------------------------------------------

>70335_70335_2_PTPRC-STAG1_PTPRC_chr1_198661502_ENST00000367364_STAG1_chr3_136096594_ENST00000383202_length(amino acids)=497AA_BP=
MLVLRKTVKSFLAVCQQCLSNVNTPVKEQAFMLLCDLLMIFSHQLMTGGREGLQPLVFNPDTGLQSELLSFVMDHVFIDQDEENQSMEGD
EEDEANKIEALHKRRNLLAAFSKLIIYDIVDMHAAADIFKHYMKYYNDYGDIIKETLSKTRQIDKIQCAKTLILSLQQLFNELVQEQGPN
LDRTSAHVSGIKELARRFALTFGLDQIKTREAVATLHKDGIEFAFKYQNQKGQEYPPPNLAFLEVLSEFSSKLLRQDKKTVHSYLEKFLT
EQMMERREDVWLPLISYRNSLVTGGEDDRMSVNSGSSSSKTSSVRNKKGRPPLHKKRVEDESLDNTWLNRTDTMIQTPGPLPAPQLTSTV
LRENSRPMGDQIQEPESEHGSEPDFLHNPQMQISWLGQPKLEDLNRKDRTGMNYMKVRTGVRHAVRGLMEEDAEPIFEDVMMSSRSQLED

--------------------------------------------------------------

>70335_70335_3_PTPRC-STAG1_PTPRC_chr1_198661502_ENST00000367364_STAG1_chr3_136096594_ENST00000434713_length(amino acids)=463AA_BP=
MLVLRKTVKSFLAVCQQCLSNVNTPVKEQAFMLLCDLLMIFSHQLMTGGREGLQPLVFNPDTGLQSELLSFVMDHVFIDQDEENQSMEGD
EEDEANKIEALHKRRNLLAAFSKLIIYDIVDMHAAADIFKHYMKLFNELVQEQGPNLDRTSAHVSGIKELARRFALTFGLDQIKTREAVA
TLHKDGIEFAFKYQNQKGQEYPPPNLAFLEVLSEFSSKLLRQDKKTVHSYLEKFLTEQMMERREDVWLPLISYRNSLVTGGEDDRMSVNS
GSSSSKTSSVRNKKGRPPLHKKRVEDESLDNTWLNRTDTMIQTPGPLPAPQLTSTVLRENSRPMGDQIQEPESEHGSEPDFLHNPQMQIS
WLGQPKLEDLNRKDRTGMNYMKVRTGVRHAVRGLMEEDAEPIFEDVMMSSRSQLEDMNEEFEDTMVIDLPPSRNRRERAELRPDFFDSAA

--------------------------------------------------------------

>70335_70335_4_PTPRC-STAG1_PTPRC_chr1_198661502_ENST00000598951_STAG1_chr3_136096594_ENST00000236698_length(amino acids)=460AA_BP=
MLVLRKTVKSFLAVCQQCLSNVNTPVKEQAFMLLCDLLMIFSHQLMTGGREGLQPLVFNPDTGLQSELLSFVMDHVFIDQDEENQSMEGD
EEDEANKIEALHKRRNLLAAFSKLIIYDIVDMHAAADIFKHYMKYYNDYGDIIKETLSKTRQIDKIQCAKTLILSLQQLFNELVQEQGPN
LDRTSAHVSGIKELARRFALTFGLDQIKTREAVATLHKDGIEFAFKYQNQKGQEYPPPNLAFLEVLSEFSSKLLRQDKKTVHSYLEKFLT
EQMMERREDVWLPLISYRNSLVTGGEDDRMSVNSGSSSSKTSSVRNKKGRPPLHKKRVEDESLDNTWLNRTDTMIQTPGPLPAPQLTSTV
LRENSRPMGDQIQEPESEHGSEPDFLHNRGLMEEDAEPIFEDVMMSSRSQLEDMNEEFEDTMVIDLPPSRNRRERAELRPDFFDSAAIIE

--------------------------------------------------------------

>70335_70335_5_PTPRC-STAG1_PTPRC_chr1_198661502_ENST00000598951_STAG1_chr3_136096594_ENST00000383202_length(amino acids)=497AA_BP=
MLVLRKTVKSFLAVCQQCLSNVNTPVKEQAFMLLCDLLMIFSHQLMTGGREGLQPLVFNPDTGLQSELLSFVMDHVFIDQDEENQSMEGD
EEDEANKIEALHKRRNLLAAFSKLIIYDIVDMHAAADIFKHYMKYYNDYGDIIKETLSKTRQIDKIQCAKTLILSLQQLFNELVQEQGPN
LDRTSAHVSGIKELARRFALTFGLDQIKTREAVATLHKDGIEFAFKYQNQKGQEYPPPNLAFLEVLSEFSSKLLRQDKKTVHSYLEKFLT
EQMMERREDVWLPLISYRNSLVTGGEDDRMSVNSGSSSSKTSSVRNKKGRPPLHKKRVEDESLDNTWLNRTDTMIQTPGPLPAPQLTSTV
LRENSRPMGDQIQEPESEHGSEPDFLHNPQMQISWLGQPKLEDLNRKDRTGMNYMKVRTGVRHAVRGLMEEDAEPIFEDVMMSSRSQLED

--------------------------------------------------------------

>70335_70335_6_PTPRC-STAG1_PTPRC_chr1_198661502_ENST00000598951_STAG1_chr3_136096594_ENST00000434713_length(amino acids)=463AA_BP=
MLVLRKTVKSFLAVCQQCLSNVNTPVKEQAFMLLCDLLMIFSHQLMTGGREGLQPLVFNPDTGLQSELLSFVMDHVFIDQDEENQSMEGD
EEDEANKIEALHKRRNLLAAFSKLIIYDIVDMHAAADIFKHYMKLFNELVQEQGPNLDRTSAHVSGIKELARRFALTFGLDQIKTREAVA
TLHKDGIEFAFKYQNQKGQEYPPPNLAFLEVLSEFSSKLLRQDKKTVHSYLEKFLTEQMMERREDVWLPLISYRNSLVTGGEDDRMSVNS
GSSSSKTSSVRNKKGRPPLHKKRVEDESLDNTWLNRTDTMIQTPGPLPAPQLTSTVLRENSRPMGDQIQEPESEHGSEPDFLHNPQMQIS
WLGQPKLEDLNRKDRTGMNYMKVRTGVRHAVRGLMEEDAEPIFEDVMMSSRSQLEDMNEEFEDTMVIDLPPSRNRRERAELRPDFFDSAA

--------------------------------------------------------------

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:198661502/chr3:136096594)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSTAG1chr1:198661502chr3:136096594ENST0000038320221341065_1070759.01259.0Compositional biasNote=Poly-Ser

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgenePTPRCchr1:198661502chr3:136096594ENST00000367376+333391_48331.3333333333333321305.0DomainFibronectin type-III 1
HgenePTPRCchr1:198661502chr3:136096594ENST00000367376+333484_57631.3333333333333321305.0DomainFibronectin type-III 2
HgenePTPRCchr1:198661502chr3:136096594ENST00000367376+333653_91231.3333333333333321305.0DomainTyrosine-protein phosphatase 1
HgenePTPRCchr1:198661502chr3:136096594ENST00000367376+333944_122831.3333333333333321305.0DomainTyrosine-protein phosphatase 2
HgenePTPRCchr1:198661502chr3:136096594ENST00000594404+330391_48331.3333333333333321144.0DomainFibronectin type-III 1
HgenePTPRCchr1:198661502chr3:136096594ENST00000594404+330484_57631.3333333333333321144.0DomainFibronectin type-III 2
HgenePTPRCchr1:198661502chr3:136096594ENST00000594404+330653_91231.3333333333333321144.0DomainTyrosine-protein phosphatase 1
HgenePTPRCchr1:198661502chr3:136096594ENST00000594404+330944_122831.3333333333333321144.0DomainTyrosine-protein phosphatase 2
HgenePTPRCchr1:198661502chr3:136096594ENST00000367376+333853_85931.3333333333333321305.0RegionSubstrate binding
HgenePTPRCchr1:198661502chr3:136096594ENST00000594404+330853_85931.3333333333333321144.0RegionSubstrate binding
HgenePTPRCchr1:198661502chr3:136096594ENST00000367376+33326_57731.3333333333333321305.0Topological domainExtracellular
HgenePTPRCchr1:198661502chr3:136096594ENST00000367376+333599_130631.3333333333333321305.0Topological domainCytoplasmic
HgenePTPRCchr1:198661502chr3:136096594ENST00000594404+33026_57731.3333333333333321144.0Topological domainExtracellular
HgenePTPRCchr1:198661502chr3:136096594ENST00000594404+330599_130631.3333333333333321144.0Topological domainCytoplasmic
HgenePTPRCchr1:198661502chr3:136096594ENST00000367376+333578_59831.3333333333333321305.0TransmembraneHelical
HgenePTPRCchr1:198661502chr3:136096594ENST00000594404+330578_59831.3333333333333321144.0TransmembraneHelical
TgeneSTAG1chr1:198661502chr3:136096594ENST000003832022134684_687759.01259.0Compositional biasNote=Poly-Asp
TgeneSTAG1chr1:198661502chr3:136096594ENST000003832022134296_381759.01259.0DomainSCD


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Fusion Protein Structures

check button PDB and CIF files of the predicted fusion proteins
* Here we show the 3D structure of the fusion proteins using Mol*. AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100. Model confidence is shown from the pLDDT values per residue. pLDDT corresponds to the model’s prediction of its score on the local Distance Difference Test. It is a measure of local accuracy (from AlphfaFold website). To color code individual residues, we transformed individual PDB files into CIF format.
Fusion protein PDB link (fusion AA seq ID in FusionPDB)HgeneHchrHbpHstrandTgeneTchrTbpTstrandAA seqLen(AA seq)
PDB file >>>1056_PTPRC_198661502_STAG1_136096594_1056_PTPRC_198661502_STAG1_136096594_ranked_0.pdbPTPRC198661502198661502ENST00000434713STAG1chr3136096594-
MLVLRKTVKSFLAVCQQCLSNVNTPVKEQAFMLLCDLLMIFSHQLMTGGREGLQPLVFNPDTGLQSELLSFVMDHVFIDQDEENQSMEGD
EEDEANKIEALHKRRNLLAAFSKLIIYDIVDMHAAADIFKHYMKYYNDYGDIIKETLSKTRQIDKIQCAKTLILSLQQLFNELVQEQGPN
LDRTSAHVSGIKELARRFALTFGLDQIKTREAVATLHKDGIEFAFKYQNQKGQEYPPPNLAFLEVLSEFSSKLLRQDKKTVHSYLEKFLT
EQMMERREDVWLPLISYRNSLVTGGEDDRMSVNSGSSSSKTSSVRNKKGRPPLHKKRVEDESLDNTWLNRTDTMIQTPGPLPAPQLTSTV
LRENSRPMGDQIQEPESEHGSEPDFLHNPQMQISWLGQPKLEDLNRKDRTGMNYMKVRTGVRHAVRGLMEEDAEPIFEDVMMSSRSQLED
497


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pLDDT score distribution

check button pLDDT score distribution of the predicted wild-type structures of two partner proteins from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
PTPRC_pLDDT.png
all structure
all structure
STAG1_pLDDT.png
all structure
all structure

check button pLDDT score distribution of the predicted fusion protein structures from AlphaFold2
* AlphaFold produces a per-residue confidence score (pLDDT) between 0 and 100.
all structure


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Ramachandran Plot of Fusion Protein Structure


check button Ramachandran plot of the torsional angles - phi (φ)and psi (ψ) - of the residues (amino acids) contained in this fusion protein peptide.
Fusion AA seq ID in FusionPDB and their Ramachandran plots

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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
PTPRC
STAG1


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to PTPRC-STAG1


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to PTPRC-STAG1


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource