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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:ARHGAP6-DIABLO (FusionGDB2 ID:HG395TG56616) |
Fusion Gene Summary for ARHGAP6-DIABLO |
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Fusion gene information | Fusion gene name: ARHGAP6-DIABLO | Fusion gene ID: hg395tg56616 | Hgene | Tgene | Gene symbol | ARHGAP6 | DIABLO | Gene ID | 395 | 56616 |
Gene name | Rho GTPase activating protein 6 | diablo IAP-binding mitochondrial protein | |
Synonyms | RHOGAP6|RHOGAPX-1 | DFNA64|SMAC | |
Cytomap | ('ARHGAP6')('DIABLO') Xp22.2 | 12q24.31 | |
Type of gene | protein-coding | protein-coding | |
Description | rho GTPase-activating protein 6Rho-type GTPase-activating protein RhoGAPX-1rho-type GTPase-activating protein 6 | diablo homolog, mitochondrialdiablo-like proteindirect IAP-binding protein with low pIsecond mitochondria-derived activator of caspase | |
Modification date | 20200313 | 20200320 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000303025, ENST00000337414, ENST00000380718, ENST00000380732, ENST00000380736, ENST00000413512, ENST00000534860, ENST00000491514, | ||
Fusion gene scores | * DoF score | 5 X 5 X 3=75 | 6 X 5 X 5=150 |
# samples | 6 | 7 | |
** MAII score | log2(6/75*10)=-0.321928094887362 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(7/150*10)=-1.09953567355091 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ARHGAP6 [Title/Abstract] AND DIABLO [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ARHGAP6(11272668)-DIABLO(122709191), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ARHGAP6-DIABLO seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. ARHGAP6-DIABLO 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 |
![]() * 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 |
ChimerDB4 | GBM | TCGA-06-0743-01A | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
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Fusion Gene ORF analysis for ARHGAP6-DIABLO |
![]() * 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 |
5CDS-intron | ENST00000303025 | ENST00000267169 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000303025 | ENST00000464942 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000303025 | ENST00000475784 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000337414 | ENST00000267169 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000337414 | ENST00000464942 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000337414 | ENST00000475784 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000380718 | ENST00000267169 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000380718 | ENST00000464942 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000380718 | ENST00000475784 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000380732 | ENST00000267169 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000380732 | ENST00000464942 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000380732 | ENST00000475784 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000380736 | ENST00000267169 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000380736 | ENST00000464942 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000380736 | ENST00000475784 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000413512 | ENST00000267169 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000413512 | ENST00000464942 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000413512 | ENST00000475784 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000534860 | ENST00000267169 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000534860 | ENST00000464942 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
5CDS-intron | ENST00000534860 | ENST00000475784 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000303025 | ENST00000353548 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000303025 | ENST00000413918 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000303025 | ENST00000443649 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000337414 | ENST00000353548 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000337414 | ENST00000413918 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000337414 | ENST00000443649 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000380718 | ENST00000353548 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000380718 | ENST00000413918 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000380718 | ENST00000443649 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000380732 | ENST00000353548 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000380732 | ENST00000413918 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000380732 | ENST00000443649 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000380736 | ENST00000353548 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000380736 | ENST00000413918 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000380736 | ENST00000443649 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000413512 | ENST00000353548 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000413512 | ENST00000413918 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000413512 | ENST00000443649 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000534860 | ENST00000353548 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000534860 | ENST00000413918 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
Frame-shift | ENST00000534860 | ENST00000443649 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
intron-3CDS | ENST00000491514 | ENST00000353548 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
intron-3CDS | ENST00000491514 | ENST00000413918 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
intron-3CDS | ENST00000491514 | ENST00000443649 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
intron-intron | ENST00000491514 | ENST00000267169 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
intron-intron | ENST00000491514 | ENST00000464942 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
intron-intron | ENST00000491514 | ENST00000475784 | ARHGAP6 | chrX | 11272668 | - | DIABLO | chr12 | 122709191 | - |
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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 ARHGAP6-DIABLO |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
ARHGAP6 | chrX | 11272667 | - | DIABLO | chr12 | 122709191 | - | 0.2454089 | 0.7545911 |
ARHGAP6 | chrX | 11272667 | - | DIABLO | chr12 | 122709191 | - | 0.2454089 | 0.7545911 |
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Fusion Protein Features for ARHGAP6-DIABLO |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:11272668/:122709191) - 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 |
. | . |
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: 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}. |
![]() * 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 ARHGAP6-DIABLO |
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Fusion Gene PPI Analysis for ARHGAP6-DIABLO |
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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 ARHGAP6-DIABLO |
![]() (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 ARHGAP6-DIABLO |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | ARHGAP6 | C2931456 | Prostate cancer, familial | 1 | CTD_human |
Hgene | ARHGAP6 | C4722327 | PROSTATE CANCER, HEREDITARY, 1 | 1 | CTD_human |
Tgene | C3279948 | DEAFNESS, AUTOSOMAL DOMINANT 64 | 3 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C3711374 | Nonsyndromic Deafness | 2 | CLINGEN | |
Tgene | C0007786 | Brain Ischemia | 1 | CTD_human | |
Tgene | C0020179 | Huntington Disease | 1 | CTD_human | |
Tgene | C0027055 | Myocardial Reperfusion Injury | 1 | CTD_human | |
Tgene | C0029410 | Osteoarthritis of hip | 1 | CTD_human | |
Tgene | C0033578 | Prostatic Neoplasms | 1 | CTD_human | |
Tgene | C0376358 | Malignant neoplasm of prostate | 1 | CTD_human | |
Tgene | C0393574 | Huntington Disease, Late Onset | 1 | CTD_human | |
Tgene | C0751207 | Akinetic-Rigid Variant of Huntington Disease | 1 | CTD_human | |
Tgene | C0751208 | Juvenile Huntington Disease | 1 | CTD_human | |
Tgene | C0917798 | Cerebral Ischemia | 1 | CTD_human | |
Tgene | C1384666 | hearing impairment | 1 | GENOMICS_ENGLAND |