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Fusion gene ID: 6925 |
FusionGeneSummary for CGGBP1_SCN11A |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: CGGBP1_SCN11A | Fusion gene ID: 6925 | Hgene | Tgene | Gene symbol | CGGBP1 | SCN11A | Gene ID | 8545 | 11280 |
| Gene name | CGG triplet repeat binding protein 1 | sodium voltage-gated channel alpha subunit 11 | |
| Synonyms | CGGBP|p20-CGGBP | FEPS3|HSAN7|NAV1.9|NaN|PN5|SCN12A|SNS-2 | |
| Cytomap | 3p11.1 | 3p22.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | CGG triplet repeat-binding protein 120 kDa CGG-binding proteinCGG-binding protein 1p20-CGG binding proteinp20-CGGBP DNA-binding protein | 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 | |
| Modification date | 20180523 | 20180523 | |
| UniProtAcc | Q9UFW8 | Q9UI33 | |
| Ensembl transtripts involved in fusion gene | ENST00000309534, ENST00000398392, ENST00000482016, ENST00000462901, ENST00000474441, | ENST00000302328, ENST00000450244, ENST00000456224, ENST00000444237, | |
| Fusion gene scores | * DoF score | 3 X 2 X 3=18 | 2 X 2 X 2=8 |
| # samples | 3 | 2 | |
| ** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(2/8*10)=1.32192809488736 | |
| Context | PubMed: CGGBP1 [Title/Abstract] AND SCN11A [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 | CGGBP1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10692448 |
| 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 | BRCA | TCGA-BH-A0BL-01A | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| * 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-3CDS | ENST00000309534 | ENST00000302328 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| intron-3CDS | ENST00000309534 | ENST00000450244 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| intron-3CDS | ENST00000309534 | ENST00000456224 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| intron-3CDS | ENST00000309534 | ENST00000444237 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| intron-3CDS | ENST00000398392 | ENST00000302328 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| intron-3CDS | ENST00000398392 | ENST00000450244 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| intron-3CDS | ENST00000398392 | ENST00000456224 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| intron-3CDS | ENST00000398392 | ENST00000444237 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| intron-3CDS | ENST00000482016 | ENST00000302328 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| intron-3CDS | ENST00000482016 | ENST00000450244 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| intron-3CDS | ENST00000482016 | ENST00000456224 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| intron-3CDS | ENST00000482016 | ENST00000444237 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| 5UTR-3CDS | ENST00000462901 | ENST00000302328 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| 5UTR-3CDS | ENST00000462901 | ENST00000450244 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| 5UTR-3CDS | ENST00000462901 | ENST00000456224 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| 5UTR-3CDS | ENST00000462901 | ENST00000444237 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| intron-3CDS | ENST00000474441 | ENST00000302328 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| intron-3CDS | ENST00000474441 | ENST00000450244 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| intron-3CDS | ENST00000474441 | ENST00000456224 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
| intron-3CDS | ENST00000474441 | ENST00000444237 | CGGBP1 | chr3 | 88190120 | - | SCN11A | chr3 | 38968422 | - |
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FusionProtFeatures for CGGBP1_SCN11A |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| CGGBP1 | SCN11A |
| Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotiderepeats in the FMR1 promoter. May play a role in regulating FMR1promoter. {ECO:0000269|PubMed:9201980}. | 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 CGGBP1_SCN11A |
| 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 CGGBP1_SCN11A |
| 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 |
| CGGBP1 | ELAVL1, REL, SDCBP, CGGBP1, GLRX3, FAM124A, SPIN2B, SPIN1, MRM1, APEX1, FKBP3, DDB1, PLEKHF2, NPM1, RBPJ, SNRNP27, RNF111 | SCN11A |
| - 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 CGGBP1_SCN11A |
| 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 | SCN11A | Q9UI33 | DB00907 | Cocaine | Sodium channel protein type 11 subunit alpha | small molecule | approved|illicit |
| Tgene | SCN11A | Q9UI33 | DB00909 | Zonisamide | Sodium channel protein type 11 subunit alpha | small molecule | approved|investigational |
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RelatedDiseases for CGGBP1_SCN11A |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | SCN11A | C3809899 | EPISODIC PAIN SYNDROME, FAMILIAL, 3 | 4 | ORPHANET;UNIPROT |
| Tgene | SCN11A | C3809882 | NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII | 2 | ORPHANET;UNIPROT |
| Tgene | SCN11A | C0002768 | Congenital Pain Insensitivity | 1 | CTD_human;ORPHANET |
| Tgene | SCN11A | C0020429 | Hyperalgesia | 1 | CTD_human |
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