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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: 2523

FusionGeneSummary for ARHGEF12_SIK3

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF12_SIK3
Fusion gene ID: 2523
HgeneTgene
Gene symbol

ARHGEF12

SIK3

Gene ID

23365

23387

Gene nameRho guanine nucleotide exchange factor 12SIK family kinase 3
SynonymsLARG|PRO2792L19|QSK|SIK-3
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 factorserine/threonine-protein kinase SIK3salt-inducible kinase 3serine/threonine-protein kinase QSK
Modification date2018051920180523
UniProtAcc

Q9NZN5

Q9Y2K2

Ensembl transtripts involved in fusion geneENST00000397843, ENST00000356641, 
ENST00000532993, 
ENST00000375300, 
ENST00000292055, ENST00000375288, 
ENST00000434315, ENST00000542607, 
ENST00000446921, ENST00000488337, 
Fusion gene scores* DoF score11 X 8 X 8=7046 X 6 X 3=108
# samples 147
** MAII scorelog2(14/704*10)=-2.33014860169233
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/108*10)=-0.625604485218502
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARHGEF12 [Title/Abstract] AND SIK3 [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

TgeneSIK3

GO:0006468

protein phosphorylation

14976552


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
TCGARVBRCATCGA-A8-A09G-01AARHGEF12chr11

120207984

+SIK3chr11

116827780

-
* 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-shitENST00000397843ENST00000375300ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
Frame-shitENST00000397843ENST00000292055ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
5CDS-5UTRENST00000397843ENST00000375288ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
5CDS-5UTRENST00000397843ENST00000434315ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
5CDS-5UTRENST00000397843ENST00000542607ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
5CDS-5UTRENST00000397843ENST00000446921ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
5CDS-intronENST00000397843ENST00000488337ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
Frame-shitENST00000356641ENST00000375300ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
Frame-shitENST00000356641ENST00000292055ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
5CDS-5UTRENST00000356641ENST00000375288ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
5CDS-5UTRENST00000356641ENST00000434315ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
5CDS-5UTRENST00000356641ENST00000542607ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
5CDS-5UTRENST00000356641ENST00000446921ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
5CDS-intronENST00000356641ENST00000488337ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
intron-3CDSENST00000532993ENST00000375300ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
intron-3CDSENST00000532993ENST00000292055ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
intron-5UTRENST00000532993ENST00000375288ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
intron-5UTRENST00000532993ENST00000434315ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
intron-5UTRENST00000532993ENST00000542607ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
intron-5UTRENST00000532993ENST00000446921ARHGEF12chr11

120207984

+SIK3chr11

116827780

-
intron-intronENST00000532993ENST00000488337ARHGEF12chr11

120207984

+SIK3chr11

116827780

-

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FusionProtFeatures for ARHGEF12_SIK3


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

Q9NZN5

SIK3

Q9Y2K2

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}.

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_SIK3


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_SIK3


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, TRIM25SIK3PRKACA, PRKAA1, YWHAZ, ELAVL1, SMAD2, SMAD3, TAB2, MAP3K7, HDAC5, YWHAQ, YWHAE, YWHAB, YWHAH, SFN, TRAF1, TRIP6, PPP3CA, PPP3CC, SIK1, 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 ARHGEF12_SIK3


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 ARHGEF12_SIK3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneARHGEF12C0043094Weight Gain1CTD_human