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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 6925

FusionGeneSummary for CGGBP1_SCN11A

check button Fusion gene summary
Fusion gene informationFusion gene name: CGGBP1_SCN11A
Fusion gene ID: 6925
HgeneTgene
Gene symbol

CGGBP1

SCN11A

Gene ID

8545

11280

Gene nameCGG triplet repeat binding protein 1sodium voltage-gated channel alpha subunit 11
SynonymsCGGBP|p20-CGGBPFEPS3|HSAN7|NAV1.9|NaN|PN5|SCN12A|SNS-2
Cytomap

3p11.1

3p22.2

Type of geneprotein-codingprotein-coding
DescriptionCGG triplet repeat-binding protein 120 kDa CGG-binding proteinCGG-binding protein 1p20-CGG binding proteinp20-CGGBP DNA-binding proteinsodium 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 date2018052320180523
UniProtAcc

Q9UFW8

Q9UI33

Ensembl transtripts involved in fusion geneENST00000309534, ENST00000398392, 
ENST00000482016, ENST00000462901, 
ENST00000474441, 
ENST00000302328, 
ENST00000450244, ENST00000456224, 
ENST00000444237, 
Fusion gene scores* DoF score3 X 2 X 3=182 X 2 X 2=8
# samples 32
** MAII scorelog2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneCGGBP1

GO:0000122

negative regulation of transcription by RNA polymerase II

10692448


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVBRCATCGA-BH-A0BL-01ACGGBP1chr3

88190120

-SCN11Achr3

38968422

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-3CDSENST00000309534ENST00000302328CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
intron-3CDSENST00000309534ENST00000450244CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
intron-3CDSENST00000309534ENST00000456224CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
intron-3CDSENST00000309534ENST00000444237CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
intron-3CDSENST00000398392ENST00000302328CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
intron-3CDSENST00000398392ENST00000450244CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
intron-3CDSENST00000398392ENST00000456224CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
intron-3CDSENST00000398392ENST00000444237CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
intron-3CDSENST00000482016ENST00000302328CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
intron-3CDSENST00000482016ENST00000450244CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
intron-3CDSENST00000482016ENST00000456224CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
intron-3CDSENST00000482016ENST00000444237CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
5UTR-3CDSENST00000462901ENST00000302328CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
5UTR-3CDSENST00000462901ENST00000450244CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
5UTR-3CDSENST00000462901ENST00000456224CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
5UTR-3CDSENST00000462901ENST00000444237CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
intron-3CDSENST00000474441ENST00000302328CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
intron-3CDSENST00000474441ENST00000450244CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
intron-3CDSENST00000474441ENST00000456224CGGBP1chr3

88190120

-SCN11Achr3

38968422

-
intron-3CDSENST00000474441ENST00000444237CGGBP1chr3

88190120

-SCN11Achr3

38968422

-

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FusionProtFeatures for CGGBP1_SCN11A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CGGBP1

Q9UFW8

SCN11A

Q9UI33

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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for CGGBP1_SCN11A


check button 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


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
CGGBP1ELAVL1, REL, SDCBP, CGGBP1, GLRX3, FAM124A, SPIN2B, SPIN1, MRM1, APEX1, FKBP3, DDB1, PLEKHF2, NPM1, RBPJ, SNRNP27, RNF111SCN11A


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for CGGBP1_SCN11A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneSCN11AQ9UI33DB00907CocaineSodium channel protein type 11 subunit alphasmall moleculeapproved|illicit
TgeneSCN11AQ9UI33DB00909ZonisamideSodium channel protein type 11 subunit alphasmall moleculeapproved|investigational

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RelatedDiseases for CGGBP1_SCN11A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSCN11AC3809899EPISODIC PAIN SYNDROME, FAMILIAL, 34ORPHANET;UNIPROT
TgeneSCN11AC3809882NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VII2ORPHANET;UNIPROT
TgeneSCN11AC0002768Congenital Pain Insensitivity1CTD_human;ORPHANET
TgeneSCN11AC0020429Hyperalgesia1CTD_human