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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:ATP6AP2-ARHGEF12 (FusionGDB2 ID:HG10159TG23365) |
Fusion Gene Summary for ATP6AP2-ARHGEF12 |
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Fusion gene information | Fusion gene name: ATP6AP2-ARHGEF12 | Fusion gene ID: hg10159tg23365 | Hgene | Tgene | Gene symbol | ATP6AP2 | ARHGEF12 | Gene ID | 10159 | 23365 |
Gene name | ATPase H+ transporting accessory protein 2 | Rho guanine nucleotide exchange factor 12 | |
Synonyms | APT6M8-9|ATP6IP2|ATP6M8-9|ELDF10|HT028|M8-9|MRXE|MRXSH|MSTP009|PRR|RENR|XMRE|XPDS | LARG|PRO2792 | |
Cytomap | ('ATP6AP2')('ARHGEF12') Xp11.4 | 11q23.3 | |
Type of gene | protein-coding | protein-coding | |
Description | renin 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, lysos | rho guanine nucleotide exchange factor 12Rho guanine nucleotide exchange factor (GEF) 12leukemia-associated RhoGEFleukemia-associated rho guanine nucleotide exchange factor | |
Modification date | 20200313 | 20200313 | |
UniProtAcc | . | Q9NZN5 | |
Ensembl transtripts involved in fusion gene | ENST00000378438, ENST00000535539, ENST00000535777, ENST00000486558, ENST00000544975, | ||
Fusion gene scores | * DoF score | 5 X 4 X 2=40 | 7 X 8 X 5=280 |
# samples | 5 | 7 | |
** MAII score | log2(5/40*10)=0.321928094887362 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/280*10)=-2 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ATP6AP2 [Title/Abstract] AND ARHGEF12 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ATP6AP2(40448332)-ARHGEF12(120347400), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ATP6AP2-ARHGEF12 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF. ATP6AP2-ARHGEF12 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF. ATP6AP2-ARHGEF12 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor due to the frame-shifted ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | ATP6AP2 | GO:0002003 | angiotensin maturation | 12045255|15746149 |
Hgene | ATP6AP2 | GO:0032914 | positive regulation of transforming growth factor beta1 production | 16374430 |
Hgene | ATP6AP2 | GO:0043408 | regulation of MAPK cascade | 12045255|15746149 |
Tgene | ARHGEF12 | GO:0007186 | G protein-coupled receptor signaling pathway | 15755723 |
![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
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Fusion Gene ORF analysis for ATP6AP2-ARHGEF12 |
![]() * 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 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
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Fusion Genomic Features for ATP6AP2-ARHGEF12 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for ATP6AP2-ARHGEF12 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:40448332/:120347400) - FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels. - How to search 1. Put your fusion gene symbol. 2. Press the tab key until there will be shown the breakpoint information filled. 4. Go down and press 'Search' tab twice. 4. Go down to have the hyperlink of the search result. 5. Click the hyperlink. 6. See the FGviewer result for your fusion gene. |
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Hgene | Tgene |
. | ARHGEF12 |
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}. | FUNCTION: May play a role in the regulation of RhoA GTPase by guanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13). Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPase and may act as GTPase-activating protein (GAP) for GNA12 and GNA13. {ECO:0000269|PubMed:11094164}. |
![]() * 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 |
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Fusion Gene Sequence for ATP6AP2-ARHGEF12 |
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Fusion Gene PPI Analysis for ATP6AP2-ARHGEF12 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for ATP6AP2-ARHGEF12 |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for ATP6AP2-ARHGEF12 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ATP6AP2 | C1845543 | Mental Retardation, X-Linked, with Epilepsy | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Hgene | ATP6AP2 | C0016059 | Fibrosis | 1 | CTD_human |
Hgene | ATP6AP2 | C0376634 | Craniofacial Abnormalities | 1 | CTD_human |
Hgene | ATP6AP2 | C1623038 | Cirrhosis | 1 | CTD_human |
Hgene | ATP6AP2 | C3806722 | PARKINSONISM WITH SPASTICITY, X-LINKED | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET |
Tgene | C0043094 | Weight Gain | 1 | CTD_human |