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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: 2519

FusionGeneSummary for ARHGEF12_GRIK4

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF12_GRIK4
Fusion gene ID: 2519
HgeneTgene
Gene symbol

ARHGEF12

GRIK4

Gene ID

23365

2900

Gene nameRho guanine nucleotide exchange factor 12glutamate ionotropic receptor kainate type subunit 4
SynonymsLARG|PRO2792EAA1|GRIK|GluK4|KA1
Cytomap

11q23.3

11q23.3

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 12Rho guanine nucleotide exchange factor (GEF) 12leukemia-associated RhoGEFleukemia-associated rho guanine nucleotide exchange factorglutamate receptor ionotropic, kainate 4excitatory amino acid receptor 1glutamate receptor KA1glutamate receptor, ionotropic, kainate 4
Modification date2018051920180523
UniProtAcc

Q9NZN5

Q16099

Ensembl transtripts involved in fusion geneENST00000397843, ENST00000356641, 
ENST00000532993, 
ENST00000527524, 
ENST00000438375, ENST00000527130, 
Fusion gene scores* DoF score11 X 8 X 8=7045 X 5 X 6=150
# samples 146
** MAII scorelog2(14/704*10)=-2.33014860169233
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARHGEF12 [Title/Abstract] AND GRIK4 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneARHGEF12

GO:0007186

G-protein coupled receptor signaling pathway

15755723


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
TCGALDBLCATCGA-GV-A3QI-01AARHGEF12chr11

120302620

+GRIK4chr11

120673402

+
TCGALDPRADTCGA-VP-A87J-01AARHGEF12chr11

120207984

+GRIK4chr11

120811056

+
* 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
Frame-shitENST00000397843ENST00000527524ARHGEF12chr11

120302620

+GRIK4chr11

120673402

+
Frame-shitENST00000397843ENST00000438375ARHGEF12chr11

120302620

+GRIK4chr11

120673402

+
5CDS-intronENST00000397843ENST00000527130ARHGEF12chr11

120302620

+GRIK4chr11

120673402

+
Frame-shitENST00000356641ENST00000527524ARHGEF12chr11

120302620

+GRIK4chr11

120673402

+
Frame-shitENST00000356641ENST00000438375ARHGEF12chr11

120302620

+GRIK4chr11

120673402

+
5CDS-intronENST00000356641ENST00000527130ARHGEF12chr11

120302620

+GRIK4chr11

120673402

+
Frame-shitENST00000532993ENST00000527524ARHGEF12chr11

120302620

+GRIK4chr11

120673402

+
Frame-shitENST00000532993ENST00000438375ARHGEF12chr11

120302620

+GRIK4chr11

120673402

+
5CDS-intronENST00000532993ENST00000527130ARHGEF12chr11

120302620

+GRIK4chr11

120673402

+
Frame-shitENST00000397843ENST00000527524ARHGEF12chr11

120207984

+GRIK4chr11

120811056

+
Frame-shitENST00000397843ENST00000438375ARHGEF12chr11

120207984

+GRIK4chr11

120811056

+
5CDS-intronENST00000397843ENST00000527130ARHGEF12chr11

120207984

+GRIK4chr11

120811056

+
Frame-shitENST00000356641ENST00000527524ARHGEF12chr11

120207984

+GRIK4chr11

120811056

+
Frame-shitENST00000356641ENST00000438375ARHGEF12chr11

120207984

+GRIK4chr11

120811056

+
5CDS-intronENST00000356641ENST00000527130ARHGEF12chr11

120207984

+GRIK4chr11

120811056

+
intron-3CDSENST00000532993ENST00000527524ARHGEF12chr11

120207984

+GRIK4chr11

120811056

+
intron-3CDSENST00000532993ENST00000438375ARHGEF12chr11

120207984

+GRIK4chr11

120811056

+
intron-intronENST00000532993ENST00000527130ARHGEF12chr11

120207984

+GRIK4chr11

120811056

+

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FusionProtFeatures for ARHGEF12_GRIK4


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARHGEF12

Q9NZN5

GRIK4

Q16099

May play a role in the regulation of RhoA GTPase byguanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13).Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPaseand may act as GTPase-activating protein (GAP) for GNA12 andGNA13. {ECO:0000269|PubMed:11094164}. Receptor for glutamate. L-glutamate acts as anexcitatory neurotransmitter at many synapses in the centralnervous system. The postsynaptic actions of Glu are mediated by avariety of receptors that are named according to their selectiveagonists.

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 ARHGEF12_GRIK4


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 ARHGEF12_GRIK4


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
ARHGEF12ARHGEF12, RHOA, IGF1R, PLXNB2, PLXNB1, GNA12, GNA13, TEC, CUL3, ARRB2, CYLD, KLHL20, CCDC183, SLC25A41, TRMT61A, VAPB, NTRK1, CLK1, NIPSNAP1, SMC3, VAPA, GAN, MYO6, CDH1, RHOC, TRIM25GRIK4RAB5A, RUFY1, EGFR


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 ARHGEF12_GRIK4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneGRIK4Q16099DB00142Glutamic AcidGlutamate receptor ionotropic, kainate 4small moleculeapproved|nutraceutical

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RelatedDiseases for ARHGEF12_GRIK4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARHGEF12C0043094Weight Gain1CTD_human
TgeneGRIK4C0005586Bipolar Disorder5PSYGENET
TgeneGRIK4C0036341Schizophrenia4PSYGENET
TgeneGRIK4C0005587Depression, Bipolar1PSYGENET
TgeneGRIK4C0033975Psychotic Disorders1PSYGENET
TgeneGRIK4C0041696Unipolar Depression1PSYGENET
TgeneGRIK4C0349204Nonorganic psychosis1PSYGENET
TgeneGRIK4C1269683Major Depressive Disorder1PSYGENET