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Fusion gene ID: 6925 |
FusionGeneSummary for CGGBP1_SCN11A |
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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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | CGGBP1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 10692448 |
![]() (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 |
![]() * 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 |
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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}. |
![]() * 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 |
![]() (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 |
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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 |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for CGGBP1_SCN11A |
![]() (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 |
![]() (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 |