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Fusion gene ID: 7937 |
FusionGeneSummary for COL3A1_HSH2D |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COL3A1_HSH2D | Fusion gene ID: 7937 | Hgene | Tgene | Gene symbol | COL3A1 | HSH2D | Gene ID | 1281 | 84941 |
| Gene name | collagen type III alpha 1 chain | hematopoietic SH2 domain containing | |
| Synonyms | EDS4A|EDSVASC | ALX|HSH2 | |
| Cytomap | 2q32.2 | 19p13.11 | |
| Type of gene | protein-coding | protein-coding | |
| Description | collagen alpha-1(III) chainEhlers-Danlos syndrome type IV, autosomal dominantalpha-1 type III collagenalpha1 (III) collagencollagen, fetalcollagen, type III, alpha 1 | hematopoietic SH2 domain-containing proteinadaptor in lymphocytes of unknown function X | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P02461 | Q96JZ2 | |
| Ensembl transtripts involved in fusion gene | ENST00000304636, ENST00000317840, | ENST00000253680, ENST00000397372, ENST00000593154, ENST00000588246, | |
| Fusion gene scores | * DoF score | 24 X 18 X 11=4752 | 6 X 5 X 5=150 |
| # samples | 29 | 6 | |
| ** MAII score | log2(29/4752*10)=-4.03441003078583 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: COL3A1 [Title/Abstract] AND HSH2D [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 | COL3A1 | GO:0007160 | cell-matrix adhesion | 16912226 |
| Hgene | COL3A1 | GO:0007179 | transforming growth factor beta receptor signaling pathway | 16360482 |
| Hgene | COL3A1 | GO:0009314 | response to radiation | 14736764 |
| Hgene | COL3A1 | GO:0018149 | peptide cross-linking | 16754721 |
| Hgene | COL3A1 | GO:0034097 | response to cytokine | 9076960|16360482 |
| Hgene | 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 |
| ChiTaRS3.1 | BF876228 | COL3A1 | chr2 | 189873659 | - | HSH2D | chr19 | 16268348 | + |
| * 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 | ENST00000304636 | ENST00000253680 | COL3A1 | chr2 | 189873659 | - | HSH2D | chr19 | 16268348 | + |
| Frame-shift | ENST00000304636 | ENST00000397372 | COL3A1 | chr2 | 189873659 | - | HSH2D | chr19 | 16268348 | + |
| Frame-shift | ENST00000304636 | ENST00000593154 | COL3A1 | chr2 | 189873659 | - | HSH2D | chr19 | 16268348 | + |
| In-frame | ENST00000304636 | ENST00000588246 | COL3A1 | chr2 | 189873659 | - | HSH2D | chr19 | 16268348 | + |
| Frame-shift | ENST00000317840 | ENST00000253680 | COL3A1 | chr2 | 189873659 | - | HSH2D | chr19 | 16268348 | + |
| Frame-shift | ENST00000317840 | ENST00000397372 | COL3A1 | chr2 | 189873659 | - | HSH2D | chr19 | 16268348 | + |
| Frame-shift | ENST00000317840 | ENST00000593154 | COL3A1 | chr2 | 189873659 | - | HSH2D | chr19 | 16268348 | + |
| In-frame | ENST00000317840 | ENST00000588246 | COL3A1 | chr2 | 189873659 | - | HSH2D | chr19 | 16268348 | + |
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FusionProtFeatures for COL3A1_HSH2D |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| COL3A1 | HSH2D |
| May be a modulator of the apoptotic response through itsability to affect mitochondrial stability (By similarity). Adapterprotein involved in tyrosine kinase and CD28 signaling. Seems toaffect CD28-mediated activation of the RE/AP element of theinterleukin-2 promoter. {ECO:0000250, ECO:0000269|PubMed:11700021,ECO:0000269|PubMed:12960172, ECO:0000269|PubMed:15284240}. |
| 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 COL3A1_HSH2D |
| 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. |
| >In-frame_COL3A1_ENST00000304636_chr2_189873659_-_HSH2D_ENST00000588246_chr19_16268348_+_0aa >In-frame_COL3A1_ENST00000317840_chr2_189873659_-_HSH2D_ENST00000588246_chr19_16268348_+_0aa |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_COL3A1_ENST00000304636_chr2_189873659_-_HSH2D_ENST00000588246_chr19_16268348_+_0nt >In-frame_COL3A1_ENST00000317840_chr2_189873659_-_HSH2D_ENST00000588246_chr19_16268348_+_0nt |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_COL3A1_ENST00000304636_chr2_189873659_-_HSH2D_ENST00000588246_chr19_16268348_+_0nt >In-frame_COL3A1_ENST00000317840_chr2_189873659_-_HSH2D_ENST00000588246_chr19_16268348_+_0nt |
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FusionGenePPI for COL3A1_HSH2D |
| 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 |
| - 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 COL3A1_HSH2D |
| 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 | COL3A1 | P02461 | DB00048 | Collagenase clostridium histolyticum | Collagen alpha-1(III) chain | biotech | approved|investigational |
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RelatedDiseases for COL3A1_HSH2D |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | COL3A1 | C0268338 | Ehlers-Danlos Syndrome, Type IV | 23 | ORPHANET;UNIPROT |
| Hgene | COL3A1 | C0023890 | Liver Cirrhosis | 5 | CTD_human |
| Hgene | COL3A1 | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human |
| Hgene | COL3A1 | C1853365 | AORTIC ANEURYSM, FAMILIAL ABDOMINAL 1 | 2 | ORPHANET;UNIPROT |
| Hgene | COL3A1 | C0003504 | Aortic Valve Insufficiency | 1 | CTD_human |
| Hgene | COL3A1 | C0015695 | Fatty Liver | 1 | CTD_human |
| Hgene | COL3A1 | C0016059 | Fibrosis | 1 | CTD_human |
| Hgene | COL3A1 | C0020443 | Hypercholesterolemia | 1 | CTD_human |
| Hgene | COL3A1 | C0020456 | Hyperglycemia | 1 | CTD_human |
| Hgene | COL3A1 | C0020459 | Hyperinsulinism | 1 | CTD_human |
| Hgene | COL3A1 | C0020538 | Hypertensive disease | 1 | CTD_human |
| Hgene | COL3A1 | C0022548 | Keloid | 1 | CTD_human |
| Hgene | COL3A1 | C0023891 | Liver Cirrhosis, Alcoholic | 1 | CTD_human |
| Hgene | COL3A1 | C0023895 | Liver diseases | 1 | CTD_human |
| Hgene | COL3A1 | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
| Hgene | COL3A1 | C0036341 | Schizophrenia | 1 | CTD_human |
| Hgene | COL3A1 | C0041956 | Ureteral obstruction | 1 | CTD_human |
| Hgene | COL3A1 | C0149721 | Left Ventricular Hypertrophy | 1 | CTD_human |
| Hgene | COL3A1 | C0238288 | Muscular Dystrophy, Facioscapulohumeral | 1 | CTD_human |
| Hgene | COL3A1 | C0268337 | Ehlers-Danlos syndrome, type 3 (disorder) | 1 | CTD_human;UNIPROT |
| Hgene | COL3A1 | C0553980 | Endomyocardial Fibrosis | 1 | CTD_human |
| Hgene | COL3A1 | C4277682 | Chemical and Drug Induced Liver Injury | 1 | CTD_human |
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