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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: 37406

FusionGeneSummary for TBC1D4_TBC1D4

check button Fusion gene summary
Fusion gene informationFusion gene name: TBC1D4_TBC1D4
Fusion gene ID: 37406
HgeneTgene
Gene symbol

TBC1D4

TBC1D4

Gene ID

9882

9882

Gene nameTBC1 domain family member 4TBC1 domain family member 4
SynonymsAS160|NIDDM5AS160|NIDDM5
Cytomap

13q22.2

13q22.2

Type of geneprotein-codingprotein-coding
DescriptionTBC1 domain family member 4TBC (Tre-2, BUB2, CDC16) domain-containing proteinakt substrate of 160 kDaTBC1 domain family member 4TBC (Tre-2, BUB2, CDC16) domain-containing proteinakt substrate of 160 kDa
Modification date2018052320180523
UniProtAcc

O60343

O60343

Ensembl transtripts involved in fusion geneENST00000377636, ENST00000431480, 
ENST00000425511, ENST00000377625, 
ENST00000478591, 
ENST00000377636, 
ENST00000431480, ENST00000425511, 
ENST00000377625, ENST00000478591, 
Fusion gene scores* DoF score4 X 3 X 4=483 X 3 X 2=18
# samples 53
** MAII scorelog2(5/48*10)=0.0588936890535686
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: TBC1D4 [Title/Abstract] AND TBC1D4 [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
ChiTaRS3.1AW992944TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
* 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-intronENST00000377636ENST00000377636TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000377636ENST00000431480TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000377636ENST00000425511TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000377636ENST00000377625TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000377636ENST00000478591TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000431480ENST00000377636TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000431480ENST00000431480TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000431480ENST00000425511TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000431480ENST00000377625TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000431480ENST00000478591TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000425511ENST00000377636TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000425511ENST00000431480TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000425511ENST00000425511TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000425511ENST00000377625TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000425511ENST00000478591TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000377625ENST00000377636TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000377625ENST00000431480TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000377625ENST00000425511TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000377625ENST00000377625TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000377625ENST00000478591TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000478591ENST00000377636TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000478591ENST00000431480TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000478591ENST00000425511TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000478591ENST00000377625TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-
intron-intronENST00000478591ENST00000478591TBC1D4chr13

75971279

+TBC1D4chr13

75971822

-

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FusionProtFeatures for TBC1D4_TBC1D4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TBC1D4

O60343

TBC1D4

O60343

May act as a GTPase-activating protein for RAB2A, RAB8A,RAB10 and RAB14. Isoform 2 promotes insulin-induced glucosetransporter SLC2A4/GLUT4 translocation at the plasma membrane,thus increasing glucose uptake. {ECO:0000269|PubMed:15971998,ECO:0000269|PubMed:18771725, ECO:0000269|PubMed:22908308}. May act as a GTPase-activating protein for RAB2A, RAB8A,RAB10 and RAB14. Isoform 2 promotes insulin-induced glucosetransporter SLC2A4/GLUT4 translocation at the plasma membrane,thus increasing glucose uptake. {ECO:0000269|PubMed:15971998,ECO:0000269|PubMed:18771725, ECO:0000269|PubMed:22908308}.

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 TBC1D4_TBC1D4


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 TBC1D4_TBC1D4


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 TBC1D4_TBC1D4


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 TBC1D4_TBC1D4


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