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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: 3427

FusionGeneSummary for ATP6AP2_ARHGEF12

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP6AP2_ARHGEF12
Fusion gene ID: 3427
HgeneTgene
Gene symbol

ATP6AP2

ARHGEF12

Gene ID

10159

23365

Gene nameATPase H+ transporting accessory protein 2Rho guanine nucleotide exchange factor 12
SynonymsAPT6M8-9|ATP6IP2|ATP6M8-9|ELDF10|HT028|M8-9|MRXE|MRXSH|MSTP009|PRR|RENR|XMRE|XPDSLARG|PRO2792
Cytomap

Xp11.4

11q23.3

Type of geneprotein-codingprotein-coding
Descriptionrenin receptorATPase H(+)-transporting lysosomal-interacting protein 2ATPase, H+ transporting, lysosomal (vacuolar proton pump) membrane sector associated protein M8-9ATPase, H+ transporting, lysosomal accessory protein 2ATPase, H+ transporting, lysosrho guanine nucleotide exchange factor 12Rho guanine nucleotide exchange factor (GEF) 12leukemia-associated RhoGEFleukemia-associated rho guanine nucleotide exchange factor
Modification date2018052220180519
UniProtAcc

O75787

Q9NZN5

Ensembl transtripts involved in fusion geneENST00000535539, ENST00000378438, 
ENST00000544975, ENST00000486558, 
ENST00000535777, 
ENST00000397843, 
ENST00000356641, ENST00000532993, 
Fusion gene scores* DoF score3 X 3 X 2=183 X 3 X 2=18
# samples 34
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/18*10)=1.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ATP6AP2 [Title/Abstract] AND ARHGEF12 [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
HgeneATP6AP2

GO:0002003

angiotensin maturation

12045255|15746149

HgeneATP6AP2

GO:0032914

positive regulation of transforming growth factor beta1 production

16374430

HgeneATP6AP2

GO:0043408

regulation of MAPK cascade

12045255|15746149

TgeneARHGEF12

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
ChiTaRS3.1AI823740ATP6AP2chrX

40448332

+ARHGEF12chr11

120347400

+
* 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-shitENST00000535539ENST00000397843ATP6AP2chrX

40448332

+ARHGEF12chr11

120347400

+
Frame-shitENST00000535539ENST00000356641ATP6AP2chrX

40448332

+ARHGEF12chr11

120347400

+
Frame-shitENST00000535539ENST00000532993ATP6AP2chrX

40448332

+ARHGEF12chr11

120347400

+
Frame-shitENST00000378438ENST00000397843ATP6AP2chrX

40448332

+ARHGEF12chr11

120347400

+
Frame-shitENST00000378438ENST00000356641ATP6AP2chrX

40448332

+ARHGEF12chr11

120347400

+
Frame-shitENST00000378438ENST00000532993ATP6AP2chrX

40448332

+ARHGEF12chr11

120347400

+
intron-3CDSENST00000544975ENST00000397843ATP6AP2chrX

40448332

+ARHGEF12chr11

120347400

+
intron-3CDSENST00000544975ENST00000356641ATP6AP2chrX

40448332

+ARHGEF12chr11

120347400

+
intron-3CDSENST00000544975ENST00000532993ATP6AP2chrX

40448332

+ARHGEF12chr11

120347400

+
intron-3CDSENST00000486558ENST00000397843ATP6AP2chrX

40448332

+ARHGEF12chr11

120347400

+
intron-3CDSENST00000486558ENST00000356641ATP6AP2chrX

40448332

+ARHGEF12chr11

120347400

+
intron-3CDSENST00000486558ENST00000532993ATP6AP2chrX

40448332

+ARHGEF12chr11

120347400

+
Frame-shitENST00000535777ENST00000397843ATP6AP2chrX

40448332

+ARHGEF12chr11

120347400

+
Frame-shitENST00000535777ENST00000356641ATP6AP2chrX

40448332

+ARHGEF12chr11

120347400

+
Frame-shitENST00000535777ENST00000532993ATP6AP2chrX

40448332

+ARHGEF12chr11

120347400

+

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FusionProtFeatures for ATP6AP2_ARHGEF12


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP6AP2

O75787

ARHGEF12

Q9NZN5

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 ATP6AP2_ARHGEF12


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 ATP6AP2_ARHGEF12


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 ATP6AP2_ARHGEF12


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 ATP6AP2_ARHGEF12


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP6AP2C0016059Fibrosis1CTD_human
HgeneATP6AP2C0376634Craniofacial Abnormalities1CTD_human
TgeneARHGEF12C0043094Weight Gain1CTD_human