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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ACAP2-DOCK8 (FusionGDB2 ID:HG23527TG81704)

Fusion Gene Summary for ACAP2-DOCK8

check button Fusion gene summary
Fusion gene informationFusion gene name: ACAP2-DOCK8
Fusion gene ID: hg23527tg81704
HgeneTgene
Gene symbol

ACAP2

DOCK8

Gene ID

23527

81704

Gene nameArfGAP with coiled-coil, ankyrin repeat and PH domains 2dedicator of cytokinesis 8
SynonymsCENTB2|CNT-B2HEL-205|MRD2|ZIR8
Cytomap('ACAP2')('DOCK8')

3q29

9p24.3

Type of geneprotein-codingprotein-coding
Descriptionarf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2Arf GAP with coiled coil, ANK repeat and PH domains 2centaurin-beta-2dedicator of cytokinesis protein 81200017A24Rikepididymis luminal protein 205
Modification date2020031320200327
UniProtAcc.

Q8NF50

Ensembl transtripts involved in fusion geneENST00000326793, ENST00000472860, 
Fusion gene scores* DoF score16 X 14 X 11=24649 X 14 X 10=1260
# samples 2216
** MAII scorelog2(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 breakpointACAP2(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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneACAP2

GO:0030029

actin filament-based process

11062263

TgeneDOCK8

GO:0043547

positive regulation of GTPase activity

28028151



check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4OVTCGA-24-1428-01AACAP2chr3

195112819

-DOCK8chr9

340159

+
ChimerDB4OVTCGA-24-1428ACAP2chr3

195112818

-DOCK8chr9

340158

+


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Fusion Gene ORF analysis for ACAP2-DOCK8

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
5CDS-intronENST00000326793ENST00000382329ACAP2chr3

195112819

-DOCK8chr9

340159

+
5CDS-intronENST00000326793ENST00000382329ACAP2chr3

195112818

-DOCK8chr9

340158

+
5CDS-intronENST00000326793ENST00000382331ACAP2chr3

195112819

-DOCK8chr9

340159

+
5CDS-intronENST00000326793ENST00000382331ACAP2chr3

195112818

-DOCK8chr9

340158

+
5CDS-intronENST00000326793ENST00000493666ACAP2chr3

195112819

-DOCK8chr9

340159

+
5CDS-intronENST00000326793ENST00000493666ACAP2chr3

195112818

-DOCK8chr9

340158

+
Frame-shiftENST00000326793ENST00000432829ACAP2chr3

195112819

-DOCK8chr9

340159

+
Frame-shiftENST00000326793ENST00000432829ACAP2chr3

195112818

-DOCK8chr9

340158

+
Frame-shiftENST00000326793ENST00000453981ACAP2chr3

195112819

-DOCK8chr9

340159

+
Frame-shiftENST00000326793ENST00000453981ACAP2chr3

195112818

-DOCK8chr9

340158

+
Frame-shiftENST00000326793ENST00000469391ACAP2chr3

195112819

-DOCK8chr9

340159

+
Frame-shiftENST00000326793ENST00000469391ACAP2chr3

195112818

-DOCK8chr9

340158

+
intron-3CDSENST00000472860ENST00000432829ACAP2chr3

195112819

-DOCK8chr9

340159

+
intron-3CDSENST00000472860ENST00000432829ACAP2chr3

195112818

-DOCK8chr9

340158

+
intron-3CDSENST00000472860ENST00000453981ACAP2chr3

195112819

-DOCK8chr9

340159

+
intron-3CDSENST00000472860ENST00000453981ACAP2chr3

195112818

-DOCK8chr9

340158

+
intron-3CDSENST00000472860ENST00000469391ACAP2chr3

195112819

-DOCK8chr9

340159

+
intron-3CDSENST00000472860ENST00000469391ACAP2chr3

195112818

-DOCK8chr9

340158

+
intron-intronENST00000472860ENST00000382329ACAP2chr3

195112819

-DOCK8chr9

340159

+
intron-intronENST00000472860ENST00000382329ACAP2chr3

195112818

-DOCK8chr9

340158

+
intron-intronENST00000472860ENST00000382331ACAP2chr3

195112819

-DOCK8chr9

340159

+
intron-intronENST00000472860ENST00000382331ACAP2chr3

195112818

-DOCK8chr9

340158

+
intron-intronENST00000472860ENST00000493666ACAP2chr3

195112819

-DOCK8chr9

340159

+
intron-intronENST00000472860ENST00000493666ACAP2chr3

195112818

-DOCK8chr9

340158

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for ACAP2-DOCK8


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
ACAP2chr3195112818-DOCK8chr9340158+3.42E-070.99999964
ACAP2chr3195112818-DOCK8chr9340158+3.42E-070.99999964
ACAP2chr3195112818-DOCK8chr9340158+3.42E-070.99999964
ACAP2chr3195112818-DOCK8chr9340158+3.42E-070.99999964


check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for ACAP2-DOCK8


check button Four levels of functional features of fusion genes
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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.DOCK8

Q8NF50

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}.

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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Fusion Gene Sequence for ACAP2-DOCK8


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for ACAP2-DOCK8


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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Related Drugs for ACAP2-DOCK8


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for ACAP2-DOCK8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC1968689Hyper-Immunoglobulin E Syndrome, Autosomal Recessive2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC4722305HYPER-IgE RECURRENT INFECTION SYNDROME 2, AUTOSOMAL RECESSIVE2GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC0008073Developmental Disabilities1CTD_human
TgeneC0020796Profound Mental Retardation1CTD_human
TgeneC0025363Mental Retardation, Psychosocial1CTD_human
TgeneC0027819Neuroblastoma1CTD_human
TgeneC0085996Child Development Deviations1CTD_human
TgeneC0085997Child Development Disorders, Specific1CTD_human
TgeneC0494261Combined immunodeficiency1GENOMICS_ENGLAND
TgeneC0917816Mental deficiency1CTD_human
TgeneC1535926Neurodevelopmental Disorders1CTD_human
TgeneC2936739Hyper-Immunoglobulin E Syndrome, Autosomal Dominant1CTD_human;GENOMICS_ENGLAND
TgeneC3714756Intellectual Disability1CTD_human