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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:ACAP2-DOCK8 (FusionGDB2 ID:HG23527TG81704) |
Fusion Gene Summary for ACAP2-DOCK8 |
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Fusion gene information | Fusion gene name: ACAP2-DOCK8 | Fusion gene ID: hg23527tg81704 | Hgene | Tgene | Gene symbol | ACAP2 | DOCK8 | Gene ID | 23527 | 81704 |
Gene name | ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 | dedicator of cytokinesis 8 | |
Synonyms | CENTB2|CNT-B2 | HEL-205|MRD2|ZIR8 | |
Cytomap | ('ACAP2')('DOCK8') 3q29 | 9p24.3 | |
Type of gene | protein-coding | protein-coding | |
Description | arf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2Arf GAP with coiled coil, ANK repeat and PH domains 2centaurin-beta-2 | dedicator of cytokinesis protein 81200017A24Rikepididymis luminal protein 205 | |
Modification date | 20200313 | 20200327 | |
UniProtAcc | . | Q8NF50 | |
Ensembl transtripts involved in fusion gene | ENST00000326793, ENST00000472860, | ||
Fusion gene scores | * DoF score | 16 X 14 X 11=2464 | 9 X 14 X 10=1260 |
# samples | 22 | 16 | |
** MAII score | log2(22/2464*10)=-3.48542682717024 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(16/1260*10)=-2.97727992349992 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ACAP2 [Title/Abstract] AND DOCK8 [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | ACAP2(195112819)-DOCK8(340159), # samples:1 ACAP2(195112818)-DOCK8(340158), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | ACAP2-DOCK8 seems lost the major protein functional domain in Hgene partner, which is a essential gene 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 | ACAP2 | GO:0030029 | actin filament-based process | 11062263 |
Tgene | DOCK8 | GO:0043547 | positive regulation of GTPase activity | 28028151 |
![]() * 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 | OV | TCGA-24-1428-01A | ACAP2 | chr3 | 195112819 | - | DOCK8 | chr9 | 340159 | + |
ChimerDB4 | OV | TCGA-24-1428 | ACAP2 | chr3 | 195112818 | - | DOCK8 | chr9 | 340158 | + |
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Fusion Gene ORF analysis for ACAP2-DOCK8 |
![]() * 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 | ENST00000326793 | ENST00000382329 | ACAP2 | chr3 | 195112819 | - | DOCK8 | chr9 | 340159 | + |
5CDS-intron | ENST00000326793 | ENST00000382329 | ACAP2 | chr3 | 195112818 | - | DOCK8 | chr9 | 340158 | + |
5CDS-intron | ENST00000326793 | ENST00000382331 | ACAP2 | chr3 | 195112819 | - | DOCK8 | chr9 | 340159 | + |
5CDS-intron | ENST00000326793 | ENST00000382331 | ACAP2 | chr3 | 195112818 | - | DOCK8 | chr9 | 340158 | + |
5CDS-intron | ENST00000326793 | ENST00000493666 | ACAP2 | chr3 | 195112819 | - | DOCK8 | chr9 | 340159 | + |
5CDS-intron | ENST00000326793 | ENST00000493666 | ACAP2 | chr3 | 195112818 | - | DOCK8 | chr9 | 340158 | + |
Frame-shift | ENST00000326793 | ENST00000432829 | ACAP2 | chr3 | 195112819 | - | DOCK8 | chr9 | 340159 | + |
Frame-shift | ENST00000326793 | ENST00000432829 | ACAP2 | chr3 | 195112818 | - | DOCK8 | chr9 | 340158 | + |
Frame-shift | ENST00000326793 | ENST00000453981 | ACAP2 | chr3 | 195112819 | - | DOCK8 | chr9 | 340159 | + |
Frame-shift | ENST00000326793 | ENST00000453981 | ACAP2 | chr3 | 195112818 | - | DOCK8 | chr9 | 340158 | + |
Frame-shift | ENST00000326793 | ENST00000469391 | ACAP2 | chr3 | 195112819 | - | DOCK8 | chr9 | 340159 | + |
Frame-shift | ENST00000326793 | ENST00000469391 | ACAP2 | chr3 | 195112818 | - | DOCK8 | chr9 | 340158 | + |
intron-3CDS | ENST00000472860 | ENST00000432829 | ACAP2 | chr3 | 195112819 | - | DOCK8 | chr9 | 340159 | + |
intron-3CDS | ENST00000472860 | ENST00000432829 | ACAP2 | chr3 | 195112818 | - | DOCK8 | chr9 | 340158 | + |
intron-3CDS | ENST00000472860 | ENST00000453981 | ACAP2 | chr3 | 195112819 | - | DOCK8 | chr9 | 340159 | + |
intron-3CDS | ENST00000472860 | ENST00000453981 | ACAP2 | chr3 | 195112818 | - | DOCK8 | chr9 | 340158 | + |
intron-3CDS | ENST00000472860 | ENST00000469391 | ACAP2 | chr3 | 195112819 | - | DOCK8 | chr9 | 340159 | + |
intron-3CDS | ENST00000472860 | ENST00000469391 | ACAP2 | chr3 | 195112818 | - | DOCK8 | chr9 | 340158 | + |
intron-intron | ENST00000472860 | ENST00000382329 | ACAP2 | chr3 | 195112819 | - | DOCK8 | chr9 | 340159 | + |
intron-intron | ENST00000472860 | ENST00000382329 | ACAP2 | chr3 | 195112818 | - | DOCK8 | chr9 | 340158 | + |
intron-intron | ENST00000472860 | ENST00000382331 | ACAP2 | chr3 | 195112819 | - | DOCK8 | chr9 | 340159 | + |
intron-intron | ENST00000472860 | ENST00000382331 | ACAP2 | chr3 | 195112818 | - | DOCK8 | chr9 | 340158 | + |
intron-intron | ENST00000472860 | ENST00000493666 | ACAP2 | chr3 | 195112819 | - | DOCK8 | chr9 | 340159 | + |
intron-intron | ENST00000472860 | ENST00000493666 | ACAP2 | chr3 | 195112818 | - | DOCK8 | chr9 | 340158 | + |
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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 ACAP2-DOCK8 |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
ACAP2 | chr3 | 195112818 | - | DOCK8 | chr9 | 340158 | + | 3.42E-07 | 0.99999964 |
ACAP2 | chr3 | 195112818 | - | DOCK8 | chr9 | 340158 | + | 3.42E-07 | 0.99999964 |
ACAP2 | chr3 | 195112818 | - | DOCK8 | chr9 | 340158 | + | 3.42E-07 | 0.99999964 |
ACAP2 | chr3 | 195112818 | - | DOCK8 | chr9 | 340158 | + | 3.42E-07 | 0.99999964 |
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Fusion Protein Features for ACAP2-DOCK8 |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:195112819/:340159) - 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 |
. | DOCK8 |
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: Guanine nucleotide exchange factor (GEF) which specifically activates small GTPase CDC42 by exchanging bound GDP for free GTP (PubMed:28028151, PubMed:22461490). During immune responses, required for interstitial dendritic cell (DC) migration by locally activating CDC42 at the leading edge membrane of DC (By similarity). Required for CD4(+) T-cell migration in response to chemokine stimulation by promoting CDC42 activation at T cell leading edge membrane (PubMed:28028151). Is involved in NK cell cytotoxicity by controlling polarization of microtubule-organizing center (MTOC), and possibly regulating CCDC88B-mediated lytic granule transport to MTOC during cell killing (PubMed:25762780). {ECO:0000250|UniProtKB:Q8C147, ECO:0000269|PubMed:22461490, ECO:0000269|PubMed:25762780, ECO:0000269|PubMed:28028151}. |
![]() * 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 ACAP2-DOCK8 |
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Fusion Gene PPI Analysis for ACAP2-DOCK8 |
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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 ACAP2-DOCK8 |
![]() (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 ACAP2-DOCK8 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Tgene | C1968689 | Hyper-Immunoglobulin E Syndrome, Autosomal Recessive | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C4722305 | HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE | 2 | GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C0008073 | Developmental Disabilities | 1 | CTD_human | |
Tgene | C0020796 | Profound Mental Retardation | 1 | CTD_human | |
Tgene | C0025363 | Mental Retardation, Psychosocial | 1 | CTD_human | |
Tgene | C0027819 | Neuroblastoma | 1 | CTD_human | |
Tgene | C0085996 | Child Development Deviations | 1 | CTD_human | |
Tgene | C0085997 | Child Development Disorders, Specific | 1 | CTD_human | |
Tgene | C0494261 | Combined immunodeficiency | 1 | GENOMICS_ENGLAND | |
Tgene | C0917816 | Mental deficiency | 1 | CTD_human | |
Tgene | C1535926 | Neurodevelopmental Disorders | 1 | CTD_human | |
Tgene | C2936739 | Hyper-Immunoglobulin E Syndrome, Autosomal Dominant | 1 | CTD_human;GENOMICS_ENGLAND | |
Tgene | C3714756 | Intellectual Disability | 1 | CTD_human |