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Fusion gene ID: 8008 |
FusionGeneSummary for COL7A1_SLC26A6 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: COL7A1_SLC26A6 | Fusion gene ID: 8008 | Hgene | Tgene | Gene symbol | COL7A1 | SLC26A6 | Gene ID | 1294 | 65010 |
| Gene name | collagen type VII alpha 1 chain | solute carrier family 26 member 6 | |
| Synonyms | EBD1|EBDCT|EBR1|NDNC8 | - | |
| Cytomap | 3p21.31 | 3p21.31 | |
| Type of gene | protein-coding | protein-coding | |
| Description | collagen alpha-1(VII) chainLC collagencollagen VII, alpha-1 polypeptidecollagen, type VII, alpha 1long-chain collagen | solute carrier family 26 member 6anion exchange transporteranion transporter 1pendrin L1solute carrier family 26 (anion exchanger), member 6sulfate anion transporter | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q02388 | Q9BXS9 | |
| Ensembl transtripts involved in fusion gene | ENST00000454817, ENST00000328333, ENST00000470076, | ENST00000420764, ENST00000358747, ENST00000395550, ENST00000383733, ENST00000337000, ENST00000455886, ENST00000482282, | |
| Fusion gene scores | * DoF score | 4 X 4 X 4=64 | 4 X 3 X 3=36 |
| # samples | 4 | 4 | |
| ** MAII score | log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/36*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: COL7A1 [Title/Abstract] AND SLC26A6 [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 |
| Tgene | SLC26A6 | GO:0071346 | cellular response to interferon-gamma | 18655181 |
| 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 | RV | ESCA | TCGA-L5-A8NI-01A | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| * 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 | ENST00000454817 | ENST00000420764 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| Frame-shift | ENST00000454817 | ENST00000358747 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| Frame-shift | ENST00000454817 | ENST00000395550 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| 5CDS-intron | ENST00000454817 | ENST00000383733 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| 5CDS-intron | ENST00000454817 | ENST00000337000 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| 5CDS-intron | ENST00000454817 | ENST00000455886 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| 5CDS-intron | ENST00000454817 | ENST00000482282 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| Frame-shift | ENST00000328333 | ENST00000420764 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| Frame-shift | ENST00000328333 | ENST00000358747 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| Frame-shift | ENST00000328333 | ENST00000395550 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| 5CDS-intron | ENST00000328333 | ENST00000383733 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| 5CDS-intron | ENST00000328333 | ENST00000337000 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| 5CDS-intron | ENST00000328333 | ENST00000455886 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| 5CDS-intron | ENST00000328333 | ENST00000482282 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| intron-3CDS | ENST00000470076 | ENST00000420764 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| intron-3CDS | ENST00000470076 | ENST00000358747 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| intron-3CDS | ENST00000470076 | ENST00000395550 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| intron-intron | ENST00000470076 | ENST00000383733 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| intron-intron | ENST00000470076 | ENST00000337000 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| intron-intron | ENST00000470076 | ENST00000455886 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
| intron-intron | ENST00000470076 | ENST00000482282 | COL7A1 | chr3 | 48630003 | - | SLC26A6 | chr3 | 48665471 | - |
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FusionProtFeatures for COL7A1_SLC26A6 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| COL7A1 | SLC26A6 |