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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: 348

FusionGeneSummary for ACAP2_DOCK8

check button Fusion gene summary
Fusion gene informationFusion gene name: ACAP2_DOCK8
Fusion gene ID: 348
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

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 date2018052320180519
UniProtAcc

Q15057

Q8NF50

Ensembl transtripts involved in fusion geneENST00000326793, ENST00000472860, 
ENST00000453981, ENST00000432829, 
ENST00000469391, ENST00000382331, 
ENST00000382329, ENST00000493666, 
Fusion gene scores* DoF score9 X 7 X 10=6305 X 8 X 7=280
# samples 138
** MAII scorelog2(13/630*10)=-2.27684020535882
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/280*10)=-1.8073549220576
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]

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
TgeneDOCK8

GO:0043547

positive regulation of GTPase activity

28028151


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
TCGALDOVTCGA-24-1428-01AACAP2chr3

195112819

-DOCK8chr9

340159

+
* 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-shitENST00000326793ENST00000453981ACAP2chr3

195112819

-DOCK8chr9

340159

+
Frame-shitENST00000326793ENST00000432829ACAP2chr3

195112819

-DOCK8chr9

340159

+
Frame-shitENST00000326793ENST00000469391ACAP2chr3

195112819

-DOCK8chr9

340159

+
5CDS-intronENST00000326793ENST00000382331ACAP2chr3

195112819

-DOCK8chr9

340159

+
5CDS-intronENST00000326793ENST00000382329ACAP2chr3

195112819

-DOCK8chr9

340159

+
5CDS-intronENST00000326793ENST00000493666ACAP2chr3

195112819

-DOCK8chr9

340159

+
intron-3CDSENST00000472860ENST00000453981ACAP2chr3

195112819

-DOCK8chr9

340159

+
intron-3CDSENST00000472860ENST00000432829ACAP2chr3

195112819

-DOCK8chr9

340159

+
intron-3CDSENST00000472860ENST00000469391ACAP2chr3

195112819

-DOCK8chr9

340159

+
intron-intronENST00000472860ENST00000382331ACAP2chr3

195112819

-DOCK8chr9

340159

+
intron-intronENST00000472860ENST00000382329ACAP2chr3

195112819

-DOCK8chr9

340159

+
intron-intronENST00000472860ENST00000493666ACAP2chr3

195112819

-DOCK8chr9

340159

+

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FusionProtFeatures for ACAP2_DOCK8


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ACAP2

Q15057

DOCK8

Q8NF50

GTPase-activating protein (GAP) for ADP ribosylationfactor 6 (ARF6). {ECO:0000269|PubMed:11062263}.

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 ACAP2_DOCK8


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 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
ACAP2SMURF1, HSPB1, RAB11FIP3, MED4, PDK3, SOAT1, NDUFS1, NDUFA9, PIGS, MBOAT7, EHBP1, GDI1, GPAA1, CYLDDOCK8CDC42, RAC1, SMAD2, CRLF3, DOCK6, DOCK7, LRCH1, LRCH2, LRCH3, MOB1A, MOB1B, DGCR6, BYSL, HBZ, MEOX2, CARHSP1, CHMP2A, ZNF581, FBXL12, FANCL, EXOSC5, MRPL38, DOCK8, FAM161A, MED30, MTG1, KRT40, ZFC3H1, FAM124A, RTP5, ARPC3, PFKFB2, NSMAF, BAG3, MORC3, CDC5L, LRCH4, APPBP2, CPNE7


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 ACAP2_DOCK8


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 ACAP2_DOCK8


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneDOCK8C0008073Developmental Disabilities1CTD_human
TgeneDOCK8C0027819Neuroblastoma1CTD_human
TgeneDOCK8C1968689Hyper-Immunoglobulin E Syndrome, Autosomal Recessive1ORPHANET;UNIPROT
TgeneDOCK8C3714756Intellectual Disability1CTD_human