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Fusion gene ID: 1917 |
FusionGeneSummary for ANO1_FGF19 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ANO1_FGF19 | Fusion gene ID: 1917 | Hgene | Tgene | Gene symbol | ANO1 | FGF19 | Gene ID | 55107 | 9965 |
| Gene name | anoctamin 1 | fibroblast growth factor 19 | |
| Synonyms | DOG1|ORAOV2|TAOS2|TMEM16A | - | |
| Cytomap | 11q13.3 | 11q13.3 | |
| Type of gene | protein-coding | protein-coding | |
| Description | anoctamin-1Ca2+-activated Cl- channelanoctamin 1, calcium activated chloride channelcalcium activated chloride channeldiscovered on gastrointestinal stromal tumors protein 1oral cancer overexpressed 2transmembrane protein 16A (eight membrane-spannin | fibroblast growth factor 19FGF-19 | |
| Modification date | 20180519 | 20180519 | |
| UniProtAcc | Q5XXA6 | O95750 | |
| Ensembl transtripts involved in fusion gene | ENST00000355303, ENST00000398543, ENST00000538023, ENST00000316296, ENST00000530676, ENST00000531349, ENST00000525494, | ENST00000294312, | |
| Fusion gene scores | * DoF score | 15 X 11 X 8=1320 | 4 X 2 X 4=32 |
| # samples | 15 | 4 | |
| ** MAII score | log2(15/1320*10)=-3.13750352374993 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/32*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ANO1 [Title/Abstract] AND FGF19 [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 | ANO1 | GO:0006812 | cation transport | 22946059 |
| Tgene | FGF19 | GO:0001934 | positive regulation of protein phosphorylation | 17627937 |
| Tgene | FGF19 | GO:0010629 | negative regulation of gene expression | 19085950 |
| Tgene | FGF19 | GO:0046326 | positive regulation of glucose import | 17623664 |
| Tgene | FGF19 | GO:0046330 | positive regulation of JNK cascade | 12815072 |
| Tgene | FGF19 | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 17623664|19085950 |
| Tgene | FGF19 | GO:0070858 | negative regulation of bile acid biosynthetic process | 12815072 |
| 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-85-7699-01A | ANO1 | chr11 | 70026162 | + | FGF19 | chr11 | 69518132 | - |
| * 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 | ENST00000355303 | ENST00000294312 | ANO1 | chr11 | 70026162 | + | FGF19 | chr11 | 69518132 | - |
| Frame-shift | ENST00000398543 | ENST00000294312 | ANO1 | chr11 | 70026162 | + | FGF19 | chr11 | 69518132 | - |
| Frame-shift | ENST00000538023 | ENST00000294312 | ANO1 | chr11 | 70026162 | + | FGF19 | chr11 | 69518132 | - |
| intron-3CDS | ENST00000316296 | ENST00000294312 | ANO1 | chr11 | 70026162 | + | FGF19 | chr11 | 69518132 | - |
| Frame-shift | ENST00000530676 | ENST00000294312 | ANO1 | chr11 | 70026162 | + | FGF19 | chr11 | 69518132 | - |
| Frame-shift | ENST00000531349 | ENST00000294312 | ANO1 | chr11 | 70026162 | + | FGF19 | chr11 | 69518132 | - |
| 3UTR-3CDS | ENST00000525494 | ENST00000294312 | ANO1 | chr11 | 70026162 | + | FGF19 | chr11 | 69518132 | - |
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FusionProtFeatures for ANO1_FGF19 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ANO1 | FGF19 |
| Calcium-activated chloride channel (CaCC) which plays arole in transepithelial anion transport and smooth musclecontraction. Required for the normal functioning of theinterstitial cells of Cajal (ICCs) which generate electricalpacemaker activity in gastrointestinal smooth muscles. Acts as amajor contributor to basal and stimulated chloride conductance inairway epithelial cells and plays an important role in trachealcartilage development. {ECO:0000269|PubMed:20056604,ECO:0000269|PubMed:21984732, ECO:0000269|PubMed:22178883,ECO:0000269|PubMed:22946059}. | Involved in the suppression of bile acid biosynthesisthrough down-regulation of CYP7A1 expression, following positiveregulation of the JNK and ERK1/2 cascades. Stimulates glucoseuptake in adipocytes. Activity requires the presence of KLB andFGFR4. {ECO:0000269|PubMed:12815072, ECO:0000269|PubMed:16597617,ECO:0000269|PubMed:17623664, ECO:0000269|PubMed:19085950}. |
| 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 ANO1_FGF19 |
| 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 ANO1_FGF19 |
| 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 |
| ANO1 | EWSR1 | FGF19 | FGFR4 |
| - 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 ANO1_FGF19 |
| 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 |
| Tgene | FGF19 | O95750 | DB01109 | Heparin | Fibroblast growth factor 19 | small molecule | approved|investigational |
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RelatedDiseases for ANO1_FGF19 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | FGF19 | C2239176 | Liver carcinoma | 1 | CTD_human |
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