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Fusion gene ID: 32862 |
FusionGeneSummary for SCN11A_ZCCHC14 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: SCN11A_ZCCHC14 | Fusion gene ID: 32862 | Hgene | Tgene | Gene symbol | SCN11A | ZCCHC14 | Gene ID | 11280 | 23174 |
| Gene name | sodium voltage-gated channel alpha subunit 11 | zinc finger CCHC-type containing 14 | |
| Synonyms | FEPS3|HSAN7|NAV1.9|NaN|PN5|SCN12A|SNS-2 | BDG-29|BDG29 | |
| Cytomap | 3p22.2 | 16q24.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | sodium channel protein type 11 subunit alphaperipheral nerve sodium channel 5sensory neuron sodium channel 2sodium channel protein type XI subunit alphasodium channel, voltage-gated, type XI, alpha polypeptidesodium channel, voltage-gated, type XI, a | zinc finger CCHC domain-containing protein 14zinc finger, CCHC domain containing 14 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | Q9UI33 | Q8WYQ9 | |
| Ensembl transtripts involved in fusion gene | ENST00000302328, ENST00000450244, ENST00000456224, ENST00000444237, | ENST00000268616, | |
| Fusion gene scores | * DoF score | 1 X 1 X 1=1 | 2 X 2 X 1=4 |
| # samples | 2 | 3 | |
| ** MAII score | log2(2/1*10)=4.32192809488736 | log2(3/4*10)=2.90689059560852 | |
| Context | PubMed: SCN11A [Title/Abstract] AND ZCCHC14 [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 |
| 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 |
| ChiTaRS3.1 | BF433084 | SCN11A | chr3 | 38887632 | + | ZCCHC14 | chr16 | 87517137 | + | ||
| ChiTaRS3.1 | BF591663 | SCN11A | chr3 | 38887632 | + | ZCCHC14 | chr16 | 87517137 | + |
| * 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-intron | ENST00000302328 | ENST00000268616 | SCN11A | chr3 | 38887632 | + | ZCCHC14 | chr16 | 87517137 | + |
| intron-intron | ENST00000450244 | ENST00000268616 | SCN11A | chr3 | 38887632 | + | ZCCHC14 | chr16 | 87517137 | + |
| intron-intron | ENST00000456224 | ENST00000268616 | SCN11A | chr3 | 38887632 | + | ZCCHC14 | chr16 | 87517137 | + |
| intron-intron | ENST00000444237 | ENST00000268616 | SCN11A | chr3 | 38887632 | + | ZCCHC14 | chr16 | 87517137 | + |
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FusionProtFeatures for SCN11A_ZCCHC14 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| SCN11A | ZCCHC14 |
| This protein mediates the voltage-dependent sodium ionpermeability of excitable membranes. Assuming opened or closedconformations in response to the voltage difference across themembrane, the protein forms a sodium-selective channel throughwhich sodium ions may pass in accordance with theirelectrochemical gradient. It is a tetrodotoxin-resistant sodiumchannel isoform. Also involved, with the contribution of thereceptor tyrosine kinase NTRK2, in rapid BDNF-evoked neuronaldepolarization. {ECO:0000269|PubMed:10580103,ECO:0000269|PubMed:12384689}. |
| 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 SCN11A_ZCCHC14 |
| 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 SCN11A_ZCCHC14 |
| 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 |
| - 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 SCN11A_ZCCHC14 |
| 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 |
| Hgene | SCN11A | Q9UI33 | DB00907 | Cocaine | Sodium channel protein type 11 subunit alpha | small molecule | approved|illicit |
| Hgene | SCN11A | Q9UI33 | DB00909 | Zonisamide | Sodium channel protein type 11 subunit alpha | small molecule | approved|investigational |
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RelatedDiseases for SCN11A_ZCCHC14 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | SCN11A | C3809899 | EPISODIC PAIN SYNDROME, FAMILIAL, 3 | 4 | ORPHANET;UNIPROT |
| Hgene | SCN11A | C3809882 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII | 2 | ORPHANET;UNIPROT |
| Hgene | SCN11A | C0002768 | Congenital Pain Insensitivity | 1 | CTD_human;ORPHANET |
| Hgene | SCN11A | C0020429 | Hyperalgesia | 1 | CTD_human |
| Tgene | ZCCHC14 | C0001973 | Alcoholic Intoxication, Chronic | 1 | PSYGENET |
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