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Fusion gene ID: 14356 |
FusionGeneSummary for GAPDH_COL3A1 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: GAPDH_COL3A1 | Fusion gene ID: 14356 | Hgene | Tgene | Gene symbol | GAPDH | COL3A1 | Gene ID | 2597 | 1281 |
| Gene name | glyceraldehyde-3-phosphate dehydrogenase | collagen type III alpha 1 chain | |
| Synonyms | G3PD|GAPD|HEL-S-162eP | EDS4A|EDSVASC | |
| Cytomap | 12p13.31 | 2q32.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | glyceraldehyde-3-phosphate dehydrogenaseOCAS, p38 componentOct1 coactivator in S phase, 38 Kd componentaging-associated gene 9 proteinepididymis secretory sperm binding protein Li 162ePpeptidyl-cysteine S-nitrosylase GAPDH | collagen alpha-1(III) chainEhlers-Danlos syndrome type IV, autosomal dominantalpha-1 type III collagenalpha1 (III) collagencollagen, fetalcollagen, type III, alpha 1 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P04406 | P02461 | |
| Ensembl transtripts involved in fusion gene | ENST00000229239, ENST00000396856, ENST00000396861, ENST00000396859, ENST00000396858, | ENST00000304636, ENST00000317840, | |
| Fusion gene scores | * DoF score | 18 X 18 X 6=1944 | 13 X 17 X 4=884 |
| # samples | 26 | 17 | |
| ** MAII score | log2(26/1944*10)=-2.90244469057733 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(17/884*10)=-2.37851162325373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: GAPDH [Title/Abstract] AND COL3A1 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
| Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Partner | Gene | GO ID | GO term | PubMed ID |
| Hgene | GAPDH | GO:0010951 | negative regulation of endopeptidase activity | 22832495 |
| Hgene | GAPDH | GO:0017148 | negative regulation of translation | 23071094 |
| Hgene | GAPDH | GO:0031640 | killing of cells of other organism | 22832495 |
| Hgene | GAPDH | GO:0050715 | positive regulation of cytokine secretion | 22832495 |
| Hgene | GAPDH | GO:0050832 | defense response to fungus | 22832495 |
| Hgene | GAPDH | GO:0051873 | killing by host of symbiont cells | 22832495 |
| Hgene | GAPDH | GO:0052501 | positive regulation by organism of apoptotic process in other organism involved in symbiotic interaction | 22832495 |
| Hgene | GAPDH | GO:0061844 | antimicrobial humoral immune response mediated by antimicrobial peptide | 22832495 |
| Hgene | GAPDH | GO:0071346 | cellular response to interferon-gamma | 15479637 |
| Tgene | COL3A1 | GO:0007160 | cell-matrix adhesion | 16912226 |
| Tgene | COL3A1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 16360482 |
| Tgene | COL3A1 | GO:0009314 | response to radiation | 14736764 |
| Tgene | COL3A1 | GO:0018149 | peptide cross-linking | 16754721 |
| Tgene | COL3A1 | GO:0034097 | response to cytokine | 9076960|16360482 |
| Tgene | COL3A1 | GO:0042060 | wound healing | 1466622 |
| Fusion gene information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | LUSC | TCGA-22-4593-01A | GAPDH | chr12 | 6647162 | + | COL3A1 | chr2 | 189862426 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| Open reading frame (ORF) analsis of fusion genes 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. |
| ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| Frame-shift | ENST00000229239 | ENST00000304636 | GAPDH | chr12 | 6647162 | + | COL3A1 | chr2 | 189862426 | + |
| Frame-shift | ENST00000229239 | ENST00000317840 | GAPDH | chr12 | 6647162 | + | COL3A1 | chr2 | 189862426 | + |
| Frame-shift | ENST00000396856 | ENST00000304636 | GAPDH | chr12 | 6647162 | + | COL3A1 | chr2 | 189862426 | + |
| Frame-shift | ENST00000396856 | ENST00000317840 | GAPDH | chr12 | 6647162 | + | COL3A1 | chr2 | 189862426 | + |
| Frame-shift | ENST00000396861 | ENST00000304636 | GAPDH | chr12 | 6647162 | + | COL3A1 | chr2 | 189862426 | + |
| Frame-shift | ENST00000396861 | ENST00000317840 | GAPDH | chr12 | 6647162 | + | COL3A1 | chr2 | 189862426 | + |
| Frame-shift | ENST00000396859 | ENST00000304636 | GAPDH | chr12 | 6647162 | + | COL3A1 | chr2 | 189862426 | + |
| Frame-shift | ENST00000396859 | ENST00000317840 | GAPDH | chr12 | 6647162 | + | COL3A1 | chr2 | 189862426 | + |
| Frame-shift | ENST00000396858 | ENST00000304636 | GAPDH | chr12 | 6647162 | + | COL3A1 | chr2 | 189862426 | + |
| Frame-shift | ENST00000396858 | ENST00000317840 | GAPDH | chr12 | 6647162 | + | COL3A1 | chr2 | 189862426 | + |
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FusionProtFeatures for GAPDH_COL3A1 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| GAPDH | COL3A1 |
| Has both glyceraldehyde-3-phosphate dehydrogenase andnitrosylase activities, thereby playing a role in glycolysis andnuclear functions, respectively. Participates in nuclear eventsincluding transcription, RNA transport, DNA replication andapoptosis. Nuclear functions are probably due to the nitrosylaseactivity that mediates cysteine S-nitrosylation of nuclear targetproteins such as SIRT1, HDAC2 and PRKDC. Modulates theorganization and assembly of the cytoskeleton. Facilitates theCHP1-dependent microtubule and membrane associations through itsability to stimulate the binding of CHP1 to microtubules (Bysimilarity). Glyceraldehyde-3-phosphate dehydrogenase is a keyenzyme in glycolysis that catalyzes the first step of the pathwayby converting D-glyceraldehyde 3-phosphate (G3P) into 3-phospho-D-glyceroyl phosphate. Component of the GAIT (gamma interferon-activated inhibitor of translation) complex which mediatesinterferon-gamma-induced transcript-selective translationinhibition in inflammation processes. Upon interferon-gammatreatment assembles into the GAIT complex which binds to stemloop-containing GAIT elements in the 3'-UTR of diverseinflammatory mRNAs (such as ceruplasmin) and suppresses theirtranslation. {ECO:0000250, ECO:0000269|PubMed:11724794,ECO:0000269|PubMed:23071094, ECO:0000269|PubMed:3170585}. |
| Retention 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 . * Minus value of BPloci means that the break pointn is located before the CDS. |
| - In-frame and retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
| - In-frame and not-retained protein feature among the 13 regional features. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for GAPDH_COL3A1 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| * Fusion transcript sequences (Full-length transcript). |
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FusionGenePPI for GAPDH_COL3A1 |
| Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
| Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
| Hgene | Hgene's interactors | Tgene | Tgene's interactors |
| GAPDH | QRICH2, TXN, POU2F1, POU2F2, STIP1, NPAT, PLD2, LAMTOR5, PRDX1, ARL15, BTBD2, LAMA4, PAFAH1B3, PCDHA4, PSMD11, SERPINB9, TK1, RPA2, PRKCI, ATXN1, AR, PDIA2, PTK2, USP25, CDKN1A, SET, CCNB1, CBL, PPP2R2A, POU5F1, CD4, NR1H4, HNF4G, SIRT1, PCNA, MAPK1, PSMA3, GSK3B, BID, RBM5, KARS, HES1, ACTC1, GOT2, NFYC, OSMR, OSTF1, YWHAE, SNCA, KCNE3, ANXA1, SMN1, ANXA7, GADD45A, ARRB2, SLC2A4, EP300, TP53, TERF1, TINF2, ACD, POT1, HTT, GAPDH, PARK2, SIAH1, CUL3, CUL4B, CUL2, CDK2, CUL1, COPS5, COPS6, CAND1, NEDD8, KAT5, ISG15, MYOC, MDM2, ATN1, AKT1, GRB2, AP2M1, NPM1, APP, PSEN1, PGK1, TPI1, PKM, ENO1, HSPD1, EEF1A1, CSTF3, PGAM1, OLA1, PABPN1, HNRNPA3, ESR1, LIG4, HSP90AA1, HSP90AB1, BTK, FN1, VCAM1, ATF2, IQCB1, ITGA4, CD81, ICAM1, MAPK7, RAD52, ADRB2, EGFR, CDK17, YWHAQ, FBXO6, TRAP1, CDKN2A, PRPF40A, GAS7, CAPNS1, ACOT7, CRYZ, DCPS, DFFA, FERMT2, GBP1, HSPA9, METAP2, PPIB, RAP1GDS1, TUBA1A, TUBA1C, TUBB, TUFM, TYMP, UBQLN1, HSPA1L, MAT2B, PPP5C, YWHAG, RPA3, RPA1, ASB15, ASB16, STAU1, HUWE1, FUS, CUL7, OBSL1, CCDC8, EED, SIRT6, BLK, PRKY, MAP3K5, GAPDHS, ASPSCR1, HNRNPA1, AKR1A1, ASS1, CTBP1, DPYD, DTNB, DUT, ENO2, ENO3, ALDOA, CFL1, HSPA8, NLRP2, NUDC, PSMD3, SOD1, TACO1, TKT, GDPGP1, GLOD4, GPD1L, MSRB3, PGAM2, PRDX2, PRDX5, SMEK1, TANGO2, NTRK1, HSPB2, EWSR1, PPME1, CASC5, MED8, ANKRD36, MCM2, MCM5, CDC5L, ESRRB, CDC73, RABGGTA, ZIC1, GRIA2, MTNR1A, CYLD, TRIM25, BRCA1, HDAC6 | COL3A1 | SPARC, THBS1, MAG, SP1, CAND1, MYOC, PDGFA, PDGFB, ERAL1 |
| - Retained PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
| - Lost PPIs in in-frame fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
| - Retained PPIs, but lost function due to frame-shift fusion. |
| Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for GAPDH_COL3A1 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
| Hgene | GAPDH | P04406 | DB11638 | Artenimol | Glyceraldehyde-3-phosphate dehydrogenase | small molecule | approved|investigational |
| Hgene | GAPDH | P04406 | DB09092 | Xanthinol | Glyceraldehyde-3-phosphate dehydrogenase | small molecule | approved|withdrawn |
| Tgene | COL3A1 | P02461 | DB00048 | Collagenase clostridium histolyticum | Collagen alpha-1(III) chain | biotech | approved|investigational |
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RelatedDiseases for GAPDH_COL3A1 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | GAPDH | C2239176 | Liver carcinoma | 2 | CTD_human |
| Hgene | GAPDH | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
| Hgene | GAPDH | C0007137 | Squamous cell carcinoma | 1 | CTD_human |
| Hgene | GAPDH | C0014859 | Esophageal Neoplasms | 1 | CTD_human |
| Hgene | GAPDH | C0026640 | Mouth Neoplasms | 1 | CTD_human |
| Hgene | GAPDH | C0027540 | Necrosis | 1 | CTD_human |
| Hgene | GAPDH | C0029408 | Degenerative polyarthritis | 1 | CTD_human |
| Hgene | GAPDH | C0029456 | Osteoporosis | 1 | CTD_human |
| Hgene | GAPDH | C0242184 | Hypoxia | 1 | CTD_human |
| Hgene | GAPDH | C0948089 | Acute Coronary Syndrome | 1 | CTD_human |
| Tgene | COL3A1 | C0268338 | Ehlers-Danlos Syndrome, Type IV | 23 | ORPHANET;UNIPROT |
| Tgene | COL3A1 | C0023890 | Liver Cirrhosis | 5 | CTD_human |
| Tgene | COL3A1 | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
| Tgene | COL3A1 | C1853365 | AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 | 2 | ORPHANET;UNIPROT |
| Tgene | COL3A1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
| Tgene | COL3A1 | C0015695 | Fatty Liver | 1 | CTD_human |
| Tgene | COL3A1 | C0016059 | Fibrosis | 1 | CTD_human |
| Tgene | COL3A1 | C0020443 | Hypercholesterolemia | 1 | CTD_human |
| Tgene | COL3A1 | C0020456 | Hyperglycemia | 1 | CTD_human |
| Tgene | COL3A1 | C0020459 | Hyperinsulinism | 1 | CTD_human |
| Tgene | COL3A1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Tgene | COL3A1 | C0022548 | Keloid | 1 | CTD_human |
| Tgene | COL3A1 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
| Tgene | COL3A1 | C0023895 | Liver diseases | 1 | CTD_human |
| Tgene | COL3A1 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
| Tgene | COL3A1 | C0036341 | Schizophrenia | 1 | CTD_human |
| Tgene | COL3A1 | C0041956 | Ureteral obstruction | 1 | CTD_human |
| Tgene | COL3A1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
| Tgene | COL3A1 | C0238288 | Muscular Dystrophy, Facioscapulohumeral | 1 | CTD_human |
| Tgene | COL3A1 | C0268337 | Ehlers-Danlos syndrome, type 3 (disorder) | 1 | CTD_human;UNIPROT |
| Tgene | COL3A1 | C0553980 | Endomyocardial Fibrosis | 1 | CTD_human |
| Tgene | COL3A1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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