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Fusion gene ID: 5103 |
FusionGeneSummary for C9_COL4A3BP |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: C9_COL4A3BP | Fusion gene ID: 5103 | Hgene | Tgene | Gene symbol | C9 | COL4A3BP | Gene ID | 1645 | 10087 |
| Gene name | aldo-keto reductase family 1 member C1 | collagen type IV alpha 3 binding protein | |
| Synonyms | 2-ALPHA-HSD|20-ALPHA-HSD|C9|DD1|DD1/DD2|DDH|DDH1|H-37|HAKRC|HBAB|MBAB | CERT|CERTL|GPBP|MRD34|STARD11 | |
| Cytomap | 10p15.1 | 5q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | aldo-keto reductase family 1 member C120 alpha-hydroxysteroid dehydrogenasealdo-keto reductase Cchlordecone reductase homolog HAKRCdihydrodiol dehydrogenase 1dihydrodiol dehydrogenase 1/2dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid | collagen type IV alpha-3-binding proteinStAR-related lipid transfer (START) domain containing 11ceramide transfer proteinceramide transportercollagen, type IV, alpha 3 (Goodpasture antigen) binding proteinhCERTlipid-transfer protein CERTL | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | P02748 | Q9Y5P4 | |
| Ensembl transtripts involved in fusion gene | ENST00000263408, ENST00000509186, | ENST00000380494, ENST00000405807, ENST00000261415, ENST00000508692, | |
| Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 2 X 1 X 1=2 |
| # samples | 2 | 1 | |
| ** MAII score | log2(2/8*10)=1.32192809488736 | log2(1/2*10)=2.32192809488736 | |
| Context | PubMed: C9 [Title/Abstract] AND COL4A3BP [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 | C9 | GO:0007586 | digestion | 8486699 |
| Hgene | C9 | GO:0008206 | bile acid metabolic process | 8486699 |
| Hgene | C9 | GO:0030855 | epithelial cell differentiation | 21492153 |
| Hgene | C9 | GO:0042448 | progesterone metabolic process | 21232532 |
| Hgene | C9 | GO:0042574 | retinal metabolic process | 21851338 |
| Hgene | C9 | GO:0051260 | protein homooligomerization | 8486699 |
| Hgene | C9 | GO:0055114 | oxidation-reduction process | 8486699|19442656|21232532 |
| Hgene | C9 | GO:0071395 | cellular response to jasmonic acid stimulus | 19487289 |
| Tgene | COL4A3BP | GO:0120012 | intermembrane sphingolipid transfer | 18184806 |
| 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 | ACC | TCGA-OR-A5J1-01A | C9 | chr5 | 39424906 | - | COL4A3BP | chr5 | 74755006 | - |
| * 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 |
| intron-3CDS | ENST00000263408 | ENST00000380494 | C9 | chr5 | 39424906 | - | COL4A3BP | chr5 | 74755006 | - |
| intron-3CDS | ENST00000263408 | ENST00000405807 | C9 | chr5 | 39424906 | - | COL4A3BP | chr5 | 74755006 | - |
| intron-3CDS | ENST00000263408 | ENST00000261415 | C9 | chr5 | 39424906 | - | COL4A3BP | chr5 | 74755006 | - |
| intron-intron | ENST00000263408 | ENST00000508692 | C9 | chr5 | 39424906 | - | COL4A3BP | chr5 | 74755006 | - |
| intron-3CDS | ENST00000509186 | ENST00000380494 | C9 | chr5 | 39424906 | - | COL4A3BP | chr5 | 74755006 | - |
| intron-3CDS | ENST00000509186 | ENST00000405807 | C9 | chr5 | 39424906 | - | COL4A3BP | chr5 | 74755006 | - |
| intron-3CDS | ENST00000509186 | ENST00000261415 | C9 | chr5 | 39424906 | - | COL4A3BP | chr5 | 74755006 | - |
| intron-intron | ENST00000509186 | ENST00000508692 | C9 | chr5 | 39424906 | - | COL4A3BP | chr5 | 74755006 | - |
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FusionProtFeatures for C9_COL4A3BP |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| C9 | COL4A3BP |