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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: 2524

FusionGeneSummary for ARHGEF12_UQCC1

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF12_UQCC1
Fusion gene ID: 2524
HgeneTgene
Gene symbol

ARHGEF12

UQCC1

Gene ID

23365

55245

Gene nameRho guanine nucleotide exchange factor 12ubiquinol-cytochrome c reductase complex assembly factor 1
SynonymsLARG|PRO2792BFZB|C20orf44|CBP3|UQCC
Cytomap

11q23.3

20q11.22

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 12Rho guanine nucleotide exchange factor (GEF) 12leukemia-associated RhoGEFleukemia-associated rho guanine nucleotide exchange factorubiquinol-cytochrome-c reductase complex assembly factor 1bFGF-repressed Zic-binding proteinbasic FGF-repressed Zic-binding proteincytochrome B protein synthesis 3 homologubiquinol-cytochrome c reductase complex chaperone CBP3 homolog
Modification date2018051920180519
UniProtAcc

Q9NZN5

Q9NVA1

Ensembl transtripts involved in fusion geneENST00000397843, ENST00000356641, 
ENST00000532993, 
ENST00000349714, 
ENST00000359226, ENST00000374384, 
ENST00000374380, ENST00000374385, 
ENST00000374377, ENST00000397556, 
ENST00000407996, ENST00000540457, 
ENST00000542501, ENST00000397554, 
ENST00000491125, 
Fusion gene scores* DoF score11 X 8 X 8=7044 X 3 X 3=36
# samples 144
** MAII scorelog2(14/704*10)=-2.33014860169233
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ARHGEF12 [Title/Abstract] AND UQCC1 [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
HgeneARHGEF12

GO:0007186

G-protein coupled receptor signaling pathway

15755723

TgeneUQCC1

GO:0034551

mitochondrial respiratory chain complex III assembly

24385928

TgeneUQCC1

GO:0070131

positive regulation of mitochondrial translation

24385928


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
ChiTaRS3.1CV316623ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
* 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-intronENST00000397843ENST00000349714ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000397843ENST00000359226ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000397843ENST00000374384ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000397843ENST00000374380ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000397843ENST00000374385ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000397843ENST00000374377ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000397843ENST00000397556ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000397843ENST00000407996ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000397843ENST00000540457ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000397843ENST00000542501ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000397843ENST00000397554ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000397843ENST00000491125ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000356641ENST00000349714ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000356641ENST00000359226ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000356641ENST00000374384ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000356641ENST00000374380ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000356641ENST00000374385ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000356641ENST00000374377ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000356641ENST00000397556ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000356641ENST00000407996ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000356641ENST00000540457ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000356641ENST00000542501ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000356641ENST00000397554ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000356641ENST00000491125ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000532993ENST00000349714ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000532993ENST00000359226ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000532993ENST00000374384ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000532993ENST00000374380ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000532993ENST00000374385ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000532993ENST00000374377ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000532993ENST00000397556ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000532993ENST00000407996ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000532993ENST00000540457ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000532993ENST00000542501ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000532993ENST00000397554ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-
intron-intronENST00000532993ENST00000491125ARHGEF12chr11

120307684

+UQCC1chr20

33987215

-

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FusionProtFeatures for ARHGEF12_UQCC1


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

Q9NZN5

UQCC1

Q9NVA1

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_UQCC1


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_UQCC1


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 ARHGEF12_UQCC1


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_UQCC1


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