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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: 38507

FusionGeneSummary for TMEM182_SCN3A

check button Fusion gene summary
Fusion gene informationFusion gene name: TMEM182_SCN3A
Fusion gene ID: 38507
HgeneTgene
Gene symbol

TMEM182

SCN3A

Gene ID

130827

6328

Gene nametransmembrane protein 182sodium voltage-gated channel alpha subunit 3
Synonyms-EIEE62|FFEVF4|NAC3|Nav1.3
Cytomap

2q12.1

2q24.3

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane protein 182sodium channel protein type 3 subunit alphabrain III voltage-gated sodium channelsodium channel protein brain III subunit alphasodium channel protein type III subunit alphasodium channel, voltage gated, type III alpha subunitsodium channel, voltage-g
Modification date2018051920180523
UniProtAcc

Q6ZP80

Q9NY46

Ensembl transtripts involved in fusion geneENST00000409528, ENST00000409173, 
ENST00000412401, ENST00000486293, 
ENST00000360093, ENST00000283254, 
ENST00000409101, ENST00000540861, 
ENST00000465043, 
Fusion gene scores* DoF score5 X 3 X 5=755 X 6 X 6=180
# samples 56
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/180*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TMEM182 [Title/Abstract] AND SCN3A [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

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
TCGALDACCTCGA-OR-A5K5-01ATMEM182chr2

103380886

+SCN3Achr2

166021030

-
* 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
Frame-shiftENST00000409528ENST00000360093TMEM182chr2

103380886

+SCN3Achr2

166021030

-
Frame-shiftENST00000409528ENST00000283254TMEM182chr2

103380886

+SCN3Achr2

166021030

-
Frame-shiftENST00000409528ENST00000409101TMEM182chr2

103380886

+SCN3Achr2

166021030

-
5CDS-intronENST00000409528ENST00000540861TMEM182chr2

103380886

+SCN3Achr2

166021030

-
5CDS-intronENST00000409528ENST00000465043TMEM182chr2

103380886

+SCN3Achr2

166021030

-
Frame-shiftENST00000409173ENST00000360093TMEM182chr2

103380886

+SCN3Achr2

166021030

-
Frame-shiftENST00000409173ENST00000283254TMEM182chr2

103380886

+SCN3Achr2

166021030

-
Frame-shiftENST00000409173ENST00000409101TMEM182chr2

103380886

+SCN3Achr2

166021030

-
5CDS-intronENST00000409173ENST00000540861TMEM182chr2

103380886

+SCN3Achr2

166021030

-
5CDS-intronENST00000409173ENST00000465043TMEM182chr2

103380886

+SCN3Achr2

166021030

-
Frame-shiftENST00000412401ENST00000360093TMEM182chr2

103380886

+SCN3Achr2

166021030

-
Frame-shiftENST00000412401ENST00000283254TMEM182chr2

103380886

+SCN3Achr2

166021030

-
Frame-shiftENST00000412401ENST00000409101TMEM182chr2

103380886

+SCN3Achr2

166021030

-
5CDS-intronENST00000412401ENST00000540861TMEM182chr2

103380886

+SCN3Achr2

166021030

-
5CDS-intronENST00000412401ENST00000465043TMEM182chr2

103380886

+SCN3Achr2

166021030

-
3UTR-3CDSENST00000486293ENST00000360093TMEM182chr2

103380886

+SCN3Achr2

166021030

-
3UTR-3CDSENST00000486293ENST00000283254TMEM182chr2

103380886

+SCN3Achr2

166021030

-
3UTR-3CDSENST00000486293ENST00000409101TMEM182chr2

103380886

+SCN3Achr2

166021030

-
3UTR-intronENST00000486293ENST00000540861TMEM182chr2

103380886

+SCN3Achr2

166021030

-
3UTR-intronENST00000486293ENST00000465043TMEM182chr2

103380886

+SCN3Achr2

166021030

-

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FusionProtFeatures for TMEM182_SCN3A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMEM182

Q6ZP80

SCN3A

Q9NY46


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 TMEM182_SCN3A


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 TMEM182_SCN3A


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
TMEM182SYNE4, LGALS3SCN3ALRP2, LRP1, LRP8, PRKCG, CEP83


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 TMEM182_SCN3A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneSCN3AQ9NY46DB06218LacosamideSodium channel protein type 3 subunit alphasmall moleculeapproved
TgeneSCN3AQ9NY46DB00909ZonisamideSodium channel protein type 3 subunit alphasmall moleculeapproved|investigational
TgeneSCN3AQ9NY46DB00252PhenytoinSodium channel protein type 3 subunit alphasmall moleculeapproved|vet_approved

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RelatedDiseases for TMEM182_SCN3A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneSCN3AC0085417Epilepsy, Complex Partial1CTD_human