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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: 2064

FusionGeneSummary for AP2B1_ACAP2

check button Fusion gene summary
Fusion gene informationFusion gene name: AP2B1_ACAP2
Fusion gene ID: 2064
HgeneTgene
Gene symbol

AP2B1

ACAP2

Gene ID

163

23527

Gene nameadaptor related protein complex 2 subunit beta 1ArfGAP with coiled-coil, ankyrin repeat and PH domains 2
SynonymsADTB2|AP105B|AP2-BETA|CLAPB1CENTB2|CNT-B2
Cytomap

17q12

3q29

Type of geneprotein-codingprotein-coding
DescriptionAP-2 complex subunit betaadapter-related protein complex 2 beta subunitadapter-related protein complex 2 subunit betaadaptin, beta 2 (beta)adaptor protein complex AP-2 subunit betaadaptor related protein complex 2 beta 1 subunitadaptor-related protearf-GAP with coiled-coil, ANK repeat and PH domain-containing protein 2Arf GAP with coiled coil, ANK repeat and PH domains 2centaurin-beta-2
Modification date2018052220180523
UniProtAcc

P63010

Q15057

Ensembl transtripts involved in fusion geneENST00000262325, ENST00000592545, 
ENST00000538556, ENST00000312678, 
ENST00000589344, ENST00000537622, 
ENST00000545922, 
ENST00000326793, 
ENST00000472860, 
Fusion gene scores* DoF score7 X 7 X 4=1965 X 6 X 2=60
# samples 76
** MAII scorelog2(7/196*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/60*10)=0
Context

PubMed: AP2B1 [Title/Abstract] AND ACAP2 [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

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
ChiTaRS3.1BM978892AP2B1chr17

34007971

-ACAP2chr3

195059318

+
* 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
intron-intronENST00000262325ENST00000326793AP2B1chr17

34007971

-ACAP2chr3

195059318

+
intron-intronENST00000262325ENST00000472860AP2B1chr17

34007971

-ACAP2chr3

195059318

+
intron-intronENST00000592545ENST00000326793AP2B1chr17

34007971

-ACAP2chr3

195059318

+
intron-intronENST00000592545ENST00000472860AP2B1chr17

34007971

-ACAP2chr3

195059318

+
intron-intronENST00000538556ENST00000326793AP2B1chr17

34007971

-ACAP2chr3

195059318

+
intron-intronENST00000538556ENST00000472860AP2B1chr17

34007971

-ACAP2chr3

195059318

+
intron-intronENST00000312678ENST00000326793AP2B1chr17

34007971

-ACAP2chr3

195059318

+
intron-intronENST00000312678ENST00000472860AP2B1chr17

34007971

-ACAP2chr3

195059318

+
intron-intronENST00000589344ENST00000326793AP2B1chr17

34007971

-ACAP2chr3

195059318

+
intron-intronENST00000589344ENST00000472860AP2B1chr17

34007971

-ACAP2chr3

195059318

+
intron-intronENST00000537622ENST00000326793AP2B1chr17

34007971

-ACAP2chr3

195059318

+
intron-intronENST00000537622ENST00000472860AP2B1chr17

34007971

-ACAP2chr3

195059318

+
intron-intronENST00000545922ENST00000326793AP2B1chr17

34007971

-ACAP2chr3

195059318

+
intron-intronENST00000545922ENST00000472860AP2B1chr17

34007971

-ACAP2chr3

195059318

+

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FusionProtFeatures for AP2B1_ACAP2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AP2B1

P63010

ACAP2

Q15057

Component of the adaptor protein complex 2 (AP-2).Adaptor protein complexes function in protein transport viatransport vesicles in different membrane traffic pathways. Adaptorprotein complexes are vesicle coat components and appear to beinvolved in cargo selection and vesicle formation. AP-2 isinvolved in clathrin-dependent endocytosis in which cargo proteinsare incorporated into vesicles surrounded by clathrin (clathrin-coated vesicles, CCVs) which are destined for fusion with theearly endosome. The clathrin lattice serves as a mechanicalscaffold but is itself unable to bind directly to membranecomponents. Clathrin-associated adaptor protein (AP) complexeswhich can bind directly to both the clathrin lattice and to thelipid and protein components of membranes are considered to be themajor clathrin adaptors contributing the CCV formation. AP-2 alsoserves as a cargo receptor to selectively sort the membraneproteins involved in receptor-mediated endocytosis. AP-2 seems toplay a role in the recycling of synaptic vesicle membranes fromthe presynaptic surface. AP-2 recognizes Y-X-X-[FILMV] (Y-X-X-Phi)and [ED]-X-X-X-L-[LI] endocytosis signal motifs within thecytosolic tails of transmembrane cargo molecules. AP-2 may alsoplay a role in maintaining normal post-endocytic traffickingthrough the ARF6-regulated, non-clathrin pathway. The AP-2 betasubunit acts via its C-terminal appendage domain as a scaffoldingplatform for endocytic accessory proteins; at least some clathrin-associated sorting proteins (CLASPs) are recognized by their [DE]-X(1,2)-F-X-X-[FL]-X-X-X-R motif. The AP-2 beta subunit binds toclathrin heavy chain, promoting clathrin lattice assembly;clathrin displaces at least some CLASPs from AP2B1 which probablythen can be positioned for further coat assembly.{ECO:0000269|PubMed:14745134, ECO:0000269|PubMed:14985334,ECO:0000269|PubMed:15473838, ECO:0000269|PubMed:19033387}. 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 AP2B1_ACAP2


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 AP2B1_ACAP2


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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RelatedDrugs for AP2B1_ACAP2


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 AP2B1_ACAP2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAP2B1C0086132Depressive Symptoms1PSYGENET