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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: 38615

FusionGeneSummary for TMEM38A_SNAPC1

check button Fusion gene summary
Fusion gene informationFusion gene name: TMEM38A_SNAPC1
Fusion gene ID: 38615
HgeneTgene
Gene symbol

TMEM38A

SNAPC1

Gene ID

79041

6617

Gene nametransmembrane protein 38Asmall nuclear RNA activating complex polypeptide 1
SynonymsTRIC-A|TRICAPTFgamma|SNAP43
Cytomap

19p13.11

14q23.2

Type of geneprotein-codingprotein-coding
Descriptiontrimeric intracellular cation channel type AsnRNA-activating protein complex subunit 1PSE-binding factor subunit gammaPTF subunit gammaSNAPc 43 kDa subunitSNAPc subunit 1proximal sequence element-binding transcription factor subunit gammasmall nuclear RNA activating complex, polypeptide 1, 43
Modification date2018051920180523
UniProtAcc

Q9H6F2

Q16533

Ensembl transtripts involved in fusion geneENST00000187762, ENST00000216294, 
Fusion gene scores* DoF score2 X 2 X 2=83 X 3 X 1=9
# samples 23
** MAII scorelog2(2/8*10)=1.32192809488736log2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TMEM38A [Title/Abstract] AND SNAPC1 [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
ChiTaRS3.1CD657759TMEM38Achr19

16789235

-SNAPC1chr14

62255964

-
* 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-intronENST00000187762ENST00000216294TMEM38Achr19

16789235

-SNAPC1chr14

62255964

-

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FusionProtFeatures for TMEM38A_SNAPC1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TMEM38A

Q9H6F2

SNAPC1

Q16533

Monovalent cation channel required for maintenance ofrapid intracellular calcium release. May act as a potassiumcounter-ion channel that functions in synchronization with calciumrelease from intracellular stores. {ECO:0000250|UniProtKB:Q3TMP8}. Part of the SNAPc complex required for the transcriptionof both RNA polymerase II and III small-nuclear RNA genes. Bindsto the proximal sequence element (PSE), a non-TATA-box basalpromoter element common to these 2 types of genes. Recruits TBPand BRF2 to the U6 snRNA TATA box. {ECO:0000269|PubMed:12621023}.

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 TMEM38A_SNAPC1


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 TMEM38A_SNAPC1


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


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 TMEM38A_SNAPC1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for TMEM38A_SNAPC1


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