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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: 2468

FusionGeneSummary for ARHGAP4_TBC1D30

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGAP4_TBC1D30
Fusion gene ID: 2468
HgeneTgene
Gene symbol

ARHGAP4

TBC1D30

Gene ID

393

23329

Gene nameRho GTPase activating protein 4TBC1 domain family member 30
SynonymsC1|RGC1|RhoGAP4|SrGAP4|p115-
Cytomap

Xq28

12q14.3

Type of geneprotein-codingprotein-coding
Descriptionrho GTPase-activating protein 4Rho-GAP hematopoietic protein C1rho-type GTPase-activating protein 4TBC1 domain family member 30
Modification date2018052320180523
UniProtAcc

P98171

Q9Y2I9

Ensembl transtripts involved in fusion geneENST00000393721, ENST00000370028, 
ENST00000350060, ENST00000370016, 
ENST00000537206, ENST00000467421, 
ENST00000542120, ENST00000229088, 
ENST00000456757, ENST00000539867, 
Fusion gene scores* DoF score2 X 4 X 2=1611 X 6 X 7=462
# samples 610
** MAII scorelog2(6/16*10)=1.90689059560852
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(10/462*10)=-2.20789285164133
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARHGAP4 [Title/Abstract] AND TBC1D30 [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
TgeneTBC1D30

GO:0043547

positive regulation of GTPase activity

17646400


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
TCGALDSARCTCGA-DX-A3LY-01BARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
* 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-3CDSENST00000393721ENST00000542120ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-3CDSENST00000393721ENST00000229088ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-intronENST00000393721ENST00000456757ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-intronENST00000393721ENST00000539867ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-3CDSENST00000370028ENST00000542120ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-3CDSENST00000370028ENST00000229088ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-intronENST00000370028ENST00000456757ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-intronENST00000370028ENST00000539867ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-3CDSENST00000350060ENST00000542120ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-3CDSENST00000350060ENST00000229088ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-intronENST00000350060ENST00000456757ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-intronENST00000350060ENST00000539867ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-3CDSENST00000370016ENST00000542120ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-3CDSENST00000370016ENST00000229088ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-intronENST00000370016ENST00000456757ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-intronENST00000370016ENST00000539867ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-3CDSENST00000537206ENST00000542120ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-3CDSENST00000537206ENST00000229088ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-intronENST00000537206ENST00000456757ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-intronENST00000537206ENST00000539867ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-3CDSENST00000467421ENST00000542120ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-3CDSENST00000467421ENST00000229088ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-intronENST00000467421ENST00000456757ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+
intron-intronENST00000467421ENST00000539867ARHGAP4chrX

153200337

-TBC1D30chr12

65258448

+

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FusionProtFeatures for ARHGAP4_TBC1D30


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARHGAP4

P98171

TBC1D30

Q9Y2I9

Inhibitory effect on stress fiber organization. Maydown-regulate Rho-like GTPase in hematopoietic cells. GTPase-activating protein (GAP) with broad specificity.Acts as a GAP for RAB3A. Also exhibits significant GAP activitytoward RAB22A, RAB27A, and RAB35 in vitro.

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 ARHGAP4_TBC1D30


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 ARHGAP4_TBC1D30


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
ARHGAP4MAP3K1, FMNL1, PCBP1, SCARNA22, ARHGAP4, TRIM25TBC1D30STX3, MYO5B, SYTL4, EXOC6, SCOC, TRIM25


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 ARHGAP4_TBC1D30


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 ARHGAP4_TBC1D30


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARHGAP4C0019693HIV Infections1CTD_human