![]() |
||||||
|
![]() | |
![]() | |
![]() | |
![]() | |
![]() | |
![]() |
Fusion gene ID: 14265 |
FusionGeneSummary for GAK_ARHGEF1 |
![]() |
Fusion gene information | Fusion gene name: GAK_ARHGEF1 | Fusion gene ID: 14265 | Hgene | Tgene | Gene symbol | GAK | ARHGEF1 | Gene ID | 2580 | 9138 |
Gene name | cyclin G associated kinase | Rho guanine nucleotide exchange factor 1 | |
Synonyms | DNAJ26|DNAJC26 | GEF1|LBCL2|LSC|P115-RHOGEF|SUB1.5 | |
Cytomap | 4p16.3 | 19q13.2 | |
Type of gene | protein-coding | protein-coding | |
Description | cyclin-G-associated kinaseauxilin-2 | rho guanine nucleotide exchange factor 1115 kDa guanine nucleotide exchange factor115-kD proteinLsc homologRho guanine nucleotide exchange factor (GEF) 1p115RhoGEF | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | O14976 | Q92888 | |
Ensembl transtripts involved in fusion gene | ENST00000314167, ENST00000511163, ENST00000509566, | ENST00000354532, ENST00000599846, ENST00000596957, ENST00000347545, ENST00000378152, ENST00000337665, | |
Fusion gene scores | * DoF score | 7 X 8 X 4=224 | 4 X 4 X 1=16 |
# samples | 7 | 4 | |
** MAII score | log2(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) |
![]() |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | GAK | GO:0010977 | negative regulation of neuron projection development | 24510904 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BF896167 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-3CDS | ENST00000314167 | ENST00000354532 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
intron-3CDS | ENST00000314167 | ENST00000599846 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
intron-intron | ENST00000314167 | ENST00000596957 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
intron-intron | ENST00000314167 | ENST00000347545 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
intron-intron | ENST00000314167 | ENST00000378152 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
intron-intron | ENST00000314167 | ENST00000337665 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
intron-3CDS | ENST00000511163 | ENST00000354532 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
intron-3CDS | ENST00000511163 | ENST00000599846 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
intron-intron | ENST00000511163 | ENST00000596957 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
intron-intron | ENST00000511163 | ENST00000347545 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
intron-intron | ENST00000511163 | ENST00000378152 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
intron-intron | ENST00000511163 | ENST00000337665 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
intron-3CDS | ENST00000509566 | ENST00000354532 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
intron-3CDS | ENST00000509566 | ENST00000599846 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
intron-intron | ENST00000509566 | ENST00000596957 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
intron-intron | ENST00000509566 | ENST00000347545 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
intron-intron | ENST00000509566 | ENST00000378152 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
intron-intron | ENST00000509566 | ENST00000337665 | GAK | chr4 | 873676 | + | ARHGEF1 | chr19 | 42408448 | - |
Top |
FusionProtFeatures for GAK_ARHGEF1 |
![]() |
Hgene | Tgene |
GAK | ARHGEF1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Top |
FusionGeneSequence for GAK_ARHGEF1 |
![]() (nt: nucleotides, aa: amino acids) |
* Fusion amino acid sequences. |
* Fusion transcript sequences (only coding sequence (CDS) region). |
* Fusion transcript sequences (Full-length transcript). |
Top |
FusionGenePPI for GAK_ARHGEF1 |
![]() |
![]() |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
![]() |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
Top |
RelatedDrugs for GAK_ARHGEF1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for GAK_ARHGEF1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | GAK | C0030567 | Parkinson Disease | 1 | CTD_human |