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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: 14265

FusionGeneSummary for GAK_ARHGEF1

check button Fusion gene summary
Fusion gene informationFusion gene name: GAK_ARHGEF1
Fusion gene ID: 14265
HgeneTgene
Gene symbol

GAK

ARHGEF1

Gene ID

2580

9138

Gene namecyclin G associated kinaseRho guanine nucleotide exchange factor 1
SynonymsDNAJ26|DNAJC26GEF1|LBCL2|LSC|P115-RHOGEF|SUB1.5
Cytomap

4p16.3

19q13.2

Type of geneprotein-codingprotein-coding
Descriptioncyclin-G-associated kinaseauxilin-2rho guanine nucleotide exchange factor 1115 kDa guanine nucleotide exchange factor115-kD proteinLsc homologRho guanine nucleotide exchange factor (GEF) 1p115RhoGEF
Modification date2018052320180519
UniProtAcc

O14976

Q92888

Ensembl transtripts involved in fusion geneENST00000314167, ENST00000511163, 
ENST00000509566, 		ENST00000354532, 
ENST00000599846, ENST00000596957, 
ENST00000347545, ENST00000378152, 
ENST00000337665, 
Fusion gene scores* DoF score7 X 8 X 4=2244 X 4 X 1=16
# samples 74
** MAII scorelog2(7/224*10)=-1.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: GAK [Title/Abstract] AND ARHGEF1 [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
HgeneGAK

GO:0010977

negative regulation of neuron projection development

24510904


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
ChiTaRS3.1BF896167GAKchr4

873676

+ARHGEF1chr19

42408448

-
* 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-3CDSENST00000314167ENST00000354532GAKchr4

873676

+ARHGEF1chr19

42408448

-
intron-3CDSENST00000314167ENST00000599846GAKchr4

873676

+ARHGEF1chr19

42408448

-
intron-intronENST00000314167ENST00000596957GAKchr4

873676

+ARHGEF1chr19

42408448

-
intron-intronENST00000314167ENST00000347545GAKchr4

873676

+ARHGEF1chr19

42408448

-
intron-intronENST00000314167ENST00000378152GAKchr4

873676

+ARHGEF1chr19

42408448

-
intron-intronENST00000314167ENST00000337665GAKchr4

873676

+ARHGEF1chr19

42408448

-
intron-3CDSENST00000511163ENST00000354532GAKchr4

873676

+ARHGEF1chr19

42408448

-
intron-3CDSENST00000511163ENST00000599846GAKchr4

873676

+ARHGEF1chr19

42408448

-
intron-intronENST00000511163ENST00000596957GAKchr4

873676

+ARHGEF1chr19

42408448

-
intron-intronENST00000511163ENST00000347545GAKchr4

873676

+ARHGEF1chr19

42408448

-
intron-intronENST00000511163ENST00000378152GAKchr4

873676

+ARHGEF1chr19

42408448

-
intron-intronENST00000511163ENST00000337665GAKchr4

873676

+ARHGEF1chr19

42408448

-
intron-3CDSENST00000509566ENST00000354532GAKchr4

873676

+ARHGEF1chr19

42408448

-
intron-3CDSENST00000509566ENST00000599846GAKchr4

873676

+ARHGEF1chr19

42408448

-
intron-intronENST00000509566ENST00000596957GAKchr4

873676

+ARHGEF1chr19

42408448

-
intron-intronENST00000509566ENST00000347545GAKchr4

873676

+ARHGEF1chr19

42408448

-
intron-intronENST00000509566ENST00000378152GAKchr4

873676

+ARHGEF1chr19

42408448

-
intron-intronENST00000509566ENST00000337665GAKchr4

873676

+ARHGEF1chr19

42408448

-

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FusionProtFeatures for GAK_ARHGEF1


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

O14976

ARHGEF1

Q92888

Associates with cyclin G and CDK5. Seems to act as anauxilin homolog that is involved in the uncoating of clathrin-coated vesicles by Hsc70 in non-neuronal cells. Expressionoscillates slightly during the cell cycle, peaking at G1.{ECO:0000269|PubMed:10625686}. Seems to play a role in the regulation of RhoA GTPase byguanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13)subunits. Acts as GTPase-activating protein (GAP) for GNA12 andGNA13, and as guanine nucleotide exchange factor (GEF) for RhoAGTPase. Activated G alpha 13/GNA13 stimulates the RhoGEF activitythrough interaction with the RGS-like domain. This GEF activity isinhibited by binding to activated GNA12. Mediates angiotensin-2-induced RhoA activation. {ECO:0000269|PubMed:20098430,ECO:0000269|PubMed:8810315, ECO:0000269|PubMed:9641915,ECO:0000269|PubMed:9641916}.

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 GAK_ARHGEF1


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 GAK_ARHGEF1


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 GAK_ARHGEF1


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 GAK_ARHGEF1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneGAKC0030567Parkinson Disease1CTD_human