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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 |
| Stratified squamous epithelial basement membrane proteinthat forms anchoring fibrils which may contribute to epithelialbasement membrane organization and adherence by interacting withextracellular matrix (ECM) proteins such as type IV collagen. | Apical membrane anion-exchanger with wide epithelialdistribution that plays a role as a component of the pH bufferingsystem for maintaining acid-base homeostasis. Acts as a versatileDIDS-sensitive inorganic and organic anion transporter thatmediates the uptake of monovalent anions like chloride,bicarbonate, formate and hydroxyl ion and divalent anions likesulfate and oxalate. Function in multiple exchange modes involvingpairs of these anions, which include chloride-bicarbonate,chloride-oxalate, oxalate-formate, oxalate-sulfate and chloride-formate exchange. Apical membrane chloride-bicarbonate exchangerthat mediates luminal chloride absorption and bicarbonatesecretion by the small intestinal brush border membrane andcontributes to intracellular pH regulation in the duodenal uppervillous epithelium during proton-coupled peptide absorption,possibly by providing a bicarbonate import pathway. Mediates alsointestinal chloride absorption and oxalate secretion, therebypreventing hyperoxaluria and calcium oxalate urolithiasis.Transepithelial oxalate secretion, chloride-formate, chloride-oxalate and chloride-bicarbonate transport activities in theduodenum are inhibited by PKC activation in a calcium-independentmanner. The apical membrane chloride-bicarbonate exchangerprovides also a major route for fluid and bicarbonate secretioninto the proximal tubules of the kidney as well as into theproximal part of the interlobular pancreatic ductal tree, where itmediates electrogenic chloride-bicarbonate exchange with achloride-bicarbonate stoichiometry of 1:2, and hence will diluteand alkalinize protein-rich acinar secretion. Mediates also thetranscellular sulfate absorption and oxalate secretion across theapical membrane in the duodenum and the formate ion efflux at theapical brush border of cells in the proximal tubules of kidney.Plays a role in sperm capacitation by increasing intracellular pH. Isoform 4: Apical membrane chloride-bicarbonateexchanger. Its association with carbonic anhydrase CA2 forms abicarbonate transport metabolon; hence maximizes the localconcentration of bicarbonate at the transporter site. |
| 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 COL7A1_SLC26A6 |
| 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 COL7A1_SLC26A6 |
| 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 |
| COL7A1 | FN1, LAMA5, COL1A1, COL4A1, LAMB3, LAMC2, THBS1, LRRC57, MOV10, NXF1, NFKBIA, SNCA | SLC26A6 | LGALS9C, NT5E, FLOT2, ENPP6, FAF2, IRGC, VAC14, PPP6R2, ATP2B2, SLC15A1, P2RX2, PMEL, LRP1, TMCO3, CD79A, PDCD1, TNFSF8 |
| - 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 COL7A1_SLC26A6 |
| 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 |
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RelatedDiseases for COL7A1_SLC26A6 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | COL7A1 | C0079474 | Hallopeau-Siemens Disease | 16 | ORPHANET;UNIPROT |
| Hgene | COL7A1 | C0432322 | Dominant dystrophic epidermolysis bullosa, albopapular type (disorder) | 15 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL7A1 | C1851573 | Transient bullous dermolysis of the newborn | 2 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL7A1 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| Hgene | COL7A1 | C0432321 | Epidermolysis bullosa, pretibial | 1 | CTD_human;HPO;ORPHANET;UNIPROT |
| Hgene | COL7A1 | C1275114 | Epidermolysis Bullosa Pruriginosa | 1 | CTD_human;ORPHANET;UNIPROT |
| Hgene | COL7A1 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Hgene | COL7A1 | C1843761 | TOENAIL DYSTROPHY, ISOLATED | 1 | CTD_human;UNIPROT |
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