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Fusion gene ID: 1910 |
FusionGeneSummary for ANO10_SCN5A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ANO10_SCN5A | Fusion gene ID: 1910 | Hgene | Tgene | Gene symbol | ANO10 | SCN5A | Gene ID | 55129 | 6331 |
| Gene name | anoctamin 10 | sodium voltage-gated channel alpha subunit 5 | |
| Synonyms | SCAR10|TMEM16K | CDCD2|CMD1E|CMPD2|HB1|HB2|HBBD|HH1|ICCD|IVF|LQT3|Nav1.5|PFHB1|SSS1|VF1 | |
| Cytomap | 3p22.1-p21.33 | 3p22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | anoctamin-10transmembrane protein 16K | sodium channel protein type 5 subunit alphacardiac tetrodotoxin-insensitive voltage-dependent sodium channel alpha subunitsodium channel protein cardiac muscle subunit alphasodium channel, voltage-gated, type V, alpha subunitvoltage-gated sodium chann | |
| Modification date | 20180519 | 20180523 | |
| UniProtAcc | Q9NW15 | Q14524 | |
| Ensembl transtripts involved in fusion gene | ENST00000292246, ENST00000350459, ENST00000396091, ENST00000414522, ENST00000451430, ENST00000495772, | ENST00000414099, ENST00000423572, ENST00000443581, ENST00000413689, ENST00000425664, ENST00000451551, ENST00000333535, ENST00000455624, ENST00000450102, ENST00000449557, ENST00000464652, | |
| Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 1 X 1 X 1=1 |
| # samples | 3 | 1 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: ANO10 [Title/Abstract] AND SCN5A [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 | ANO10 | GO:0006812 | cation transport | 22946059 |
| Hgene | ANO10 | GO:0006821 | chloride transport | 22946059 |
| Tgene | SCN5A | GO:0006814 | sodium ion transport | 19074138|22514276 |
| Tgene | SCN5A | GO:0010765 | positive regulation of sodium ion transport | 14500339|18065446|19808477|22529811 |
| Tgene | SCN5A | GO:0035725 | sodium ion transmembrane transport | 14500339|19943616|21051419 |
| Tgene | SCN5A | GO:0051899 | membrane depolarization | 14500339|21051419|21895525 |
| Tgene | SCN5A | GO:0071277 | cellular response to calcium ion | 19074138 |
| Tgene | SCN5A | GO:0086010 | membrane depolarization during action potential | 14500339|18065446|22529811 |
| Tgene | SCN5A | GO:1902305 | regulation of sodium ion transmembrane transport | 18591664 |
| 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 | STAD | TCGA-CG-4436-01A | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| * 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 | ENST00000292246 | ENST00000414099 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000292246 | ENST00000423572 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000292246 | ENST00000443581 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000292246 | ENST00000413689 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000292246 | ENST00000425664 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000292246 | ENST00000451551 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000292246 | ENST00000333535 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000292246 | ENST00000455624 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000292246 | ENST00000450102 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000292246 | ENST00000449557 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| 5CDS-intron | ENST00000292246 | ENST00000464652 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000350459 | ENST00000414099 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000350459 | ENST00000423572 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000350459 | ENST00000443581 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000350459 | ENST00000413689 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000350459 | ENST00000425664 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000350459 | ENST00000451551 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000350459 | ENST00000333535 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000350459 | ENST00000455624 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000350459 | ENST00000450102 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000350459 | ENST00000449557 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| 5CDS-intron | ENST00000350459 | ENST00000464652 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000396091 | ENST00000414099 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000396091 | ENST00000423572 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000396091 | ENST00000443581 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000396091 | ENST00000413689 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000396091 | ENST00000425664 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000396091 | ENST00000451551 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000396091 | ENST00000333535 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000396091 | ENST00000455624 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000396091 | ENST00000450102 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000396091 | ENST00000449557 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| 5CDS-intron | ENST00000396091 | ENST00000464652 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000414522 | ENST00000414099 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000414522 | ENST00000423572 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000414522 | ENST00000443581 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000414522 | ENST00000413689 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000414522 | ENST00000425664 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000414522 | ENST00000451551 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000414522 | ENST00000333535 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000414522 | ENST00000455624 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000414522 | ENST00000450102 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000414522 | ENST00000449557 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-intron | ENST00000414522 | ENST00000464652 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000451430 | ENST00000414099 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000451430 | ENST00000423572 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000451430 | ENST00000443581 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000451430 | ENST00000413689 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000451430 | ENST00000425664 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000451430 | ENST00000451551 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000451430 | ENST00000333535 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000451430 | ENST00000455624 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000451430 | ENST00000450102 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| Frame-shift | ENST00000451430 | ENST00000449557 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| 5CDS-intron | ENST00000451430 | ENST00000464652 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000495772 | ENST00000414099 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000495772 | ENST00000423572 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000495772 | ENST00000443581 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000495772 | ENST00000413689 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000495772 | ENST00000425664 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000495772 | ENST00000451551 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000495772 | ENST00000333535 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000495772 | ENST00000455624 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000495772 | ENST00000450102 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-3CDS | ENST00000495772 | ENST00000449557 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
| intron-intron | ENST00000495772 | ENST00000464652 | ANO10 | chr3 | 43474103 | - | SCN5A | chr3 | 38629064 | - |
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FusionProtFeatures for ANO10_SCN5A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ANO10 | SCN5A |
| 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 ANO10_SCN5A |
| 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 ANO10_SCN5A |
| 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 |
| ANO10 | TCTN2, TMEM216, SLC17A2 | SCN5A | SNTB2, SNTA1, SNTB1, NEDD4, CALM1, WWP2, ALB, CAV3, CDK2, GAN, CRYAB, NEDD4L |
| - 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 ANO10_SCN5A |
| 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 | SCN5A | Q14524 | DB00280 | Disopyramide | Sodium channel protein type 5 subunit alpha | small molecule | approved |
| Tgene | SCN5A | Q14524 | DB00661 | Verapamil | Sodium channel protein type 5 subunit alpha | small molecule | approved |
| Tgene | SCN5A | Q14524 | DB00750 | Prilocaine | Sodium channel protein type 5 subunit alpha | small molecule | approved |
| Tgene | SCN5A | Q14524 | DB00754 | Ethotoin | Sodium channel protein type 5 subunit alpha | small molecule | approved |
| Tgene | SCN5A | Q14524 | DB00776 | Oxcarbazepine | Sodium channel protein type 5 subunit alpha | small molecule | approved |
| Tgene | SCN5A | Q14524 | DB00868 | Benzonatate | Sodium channel protein type 5 subunit alpha | small molecule | approved |
| Tgene | SCN5A | Q14524 | DB01035 | Procainamide | Sodium channel protein type 5 subunit alpha | small molecule | approved |
| Tgene | SCN5A | Q14524 | DB01056 | Tocainide | Sodium channel protein type 5 subunit alpha | small molecule | approved |
| Tgene | SCN5A | Q14524 | DB01182 | Propafenone | Sodium channel protein type 5 subunit alpha | small molecule | approved |
| Tgene | SCN5A | Q14524 | DB01429 | Aprindine | Sodium channel protein type 5 subunit alpha | small molecule | approved |
| Tgene | SCN5A | Q14524 | DB00907 | Cocaine | Sodium channel protein type 5 subunit alpha | small molecule | approved|illicit |
| Tgene | SCN5A | Q14524 | DB00243 | Ranolazine | Sodium channel protein type 5 subunit alpha | small molecule | approved|investigational |
| Tgene | SCN5A | Q14524 | DB00379 | Mexiletine | Sodium channel protein type 5 subunit alpha | small molecule | approved|investigational |
| Tgene | SCN5A | Q14524 | DB00564 | Carbamazepine | Sodium channel protein type 5 subunit alpha | small molecule | approved|investigational |
| Tgene | SCN5A | Q14524 | DB00740 | Riluzole | Sodium channel protein type 5 subunit alpha | small molecule | approved|investigational |
| Tgene | SCN5A | Q14524 | DB00908 | Quinidine | Sodium channel protein type 5 subunit alpha | small molecule | approved|investigational |
| Tgene | SCN5A | Q14524 | DB00909 | Zonisamide | Sodium channel protein type 5 subunit alpha | small molecule | approved|investigational |
| Tgene | SCN5A | Q14524 | DB01320 | Fosphenytoin | Sodium channel protein type 5 subunit alpha | small molecule | approved|investigational |
| Tgene | SCN5A | Q14524 | DB01426 | Ajmaline | Sodium channel protein type 5 subunit alpha | small molecule | approved|investigational |
| Tgene | SCN5A | Q14524 | DB06217 | Vernakalant | Sodium channel protein type 5 subunit alpha | small molecule | approved|investigational |
| Tgene | SCN5A | Q14524 | DB11633 | Isavuconazole | Sodium channel protein type 5 subunit alpha | small molecule | approved|investigational |
| Tgene | SCN5A | Q14524 | DB00680 | Moricizine | Sodium channel protein type 5 subunit alpha | small molecule | approved|investigational|withdrawn |
| Tgene | SCN5A | Q14524 | DB01228 | Encainide | Sodium channel protein type 5 subunit alpha | small molecule | approved|investigational|withdrawn |
| Tgene | SCN5A | Q14524 | DB00252 | Phenytoin | Sodium channel protein type 5 subunit alpha | small molecule | approved|vet_approved |
| Tgene | SCN5A | Q14524 | DB00281 | Lidocaine | Sodium channel protein type 5 subunit alpha | small molecule | approved|vet_approved |
| Tgene | SCN5A | Q14524 | DB00527 | Cinchocaine | Sodium channel protein type 5 subunit alpha | small molecule | approved|vet_approved |
| Tgene | SCN5A | Q14524 | DB01195 | Flecainide | Sodium channel protein type 5 subunit alpha | small molecule | approved|withdrawn |
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RelatedDiseases for ANO10_SCN5A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | ANO10 | C3150998 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 10 | 1 | ORPHANET;UNIPROT |
| Tgene | SCN5A | C1142166 | Brugada Syndrome (disorder) | 51 | CTD_human;ORPHANET;UNIPROT |
| Tgene | SCN5A | C1859062 | LONG QT SYNDROME 3 | 29 | CTD_human;UNIPROT |
| Tgene | SCN5A | C0023976 | Long QT Syndrome | 8 | CTD_human |
| Tgene | SCN5A | C1879286 | Hereditary bundle branch system defect | 6 | CTD_human;ORPHANET;UNIPROT |
| Tgene | SCN5A | C1837845 | SICK SINUS SYNDROME 1, AUTOSOMAL RECESSIVE | 5 | CTD_human;UNIPROT |
| Tgene | SCN5A | C1832680 | CARDIOMYOPATHY, DILATED, 1E | 4 | CTD_human;UNIPROT |
| Tgene | SCN5A | C0038644 | Sudden infant death syndrome | 2 | CTD_human;UNIPROT |
| Tgene | SCN5A | C0040479 | Torsades de Pointes | 2 | CTD_human;HPO |
| Tgene | SCN5A | C3151464 | ATRIAL FIBRILLATION, FAMILIAL, 10 | 2 | UNIPROT |
| Tgene | SCN5A | C0004238 | Atrial Fibrillation | 1 | CTD_human;HPO |
| Tgene | SCN5A | C0042514 | Tachycardia, Ventricular | 1 | CTD_human |
| Tgene | SCN5A | C2751898 | Ventricular Fibrillation, Paroxysmal Familial, 1 | 1 | ORPHANET;UNIPROT |
| Tgene | SCN5A | C2931401 | Long QT syndrome type 3 | 1 | CTD_human |
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