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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: 2053

FusionGeneSummary for AP2A2_ACVRL1

check button Fusion gene summary
Fusion gene informationFusion gene name: AP2A2_ACVRL1
Fusion gene ID: 2053
HgeneTgene
Gene symbol

AP2A2

ACVRL1

Gene ID

161

94

Gene nameadaptor related protein complex 2 subunit alpha 2activin A receptor like type 1
SynonymsADTAB|CLAPA2|HIP-9|HIP9|HYPJACVRLK1|ALK-1|ALK1|HHT|HHT2|ORW2|SKR3|TSR-I
Cytomap

11p15.5

12q13.13

Type of geneprotein-codingprotein-coding
DescriptionAP-2 complex subunit alpha-2100 kDa coated vesicle protein Cadapter-related protein complex 2 subunit alpha-2adaptin, alpha Badaptor related protein complex 2 alpha 2 subunitalpha-adaptin C; Huntingtin interacting protein Jalpha2-adaptinclathrin asserine/threonine-protein kinase receptor R3TGF-B superfamily receptor type Iactivin A receptor type II-like 1activin A receptor type ILactivin A receptor, type II-like kinase 1
Modification date2018052220180523
UniProtAcc

O94973

P37023

Ensembl transtripts involved in fusion geneENST00000534328, ENST00000332231, 
ENST00000448903, ENST00000525891, 
ENST00000388922, ENST00000550683, 
ENST00000419526, ENST00000550084, 
Fusion gene scores* DoF score11 X 6 X 9=5946 X 4 X 5=120
# samples 127
** MAII scorelog2(12/594*10)=-2.30742852519225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/120*10)=-0.777607578663552
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: AP2A2 [Title/Abstract] AND ACVRL1 [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
TgeneACVRL1

GO:0006468

protein phosphorylation

12065756

TgeneACVRL1

GO:0007165

signal transduction

15702480

TgeneACVRL1

GO:0007179

transforming growth factor beta receptor signaling pathway

15702480

TgeneACVRL1

GO:0010596

negative regulation of endothelial cell migration

17068149

TgeneACVRL1

GO:0030308

negative regulation of cell growth

17068149

TgeneACVRL1

GO:0030513

positive regulation of BMP signaling pathway

17068149

TgeneACVRL1

GO:0045893

positive regulation of transcription, DNA-templated

12393874

TgeneACVRL1

GO:0045944

positive regulation of transcription by RNA polymerase II

19366699

TgeneACVRL1

GO:0071560

cellular response to transforming growth factor beta stimulus

19494318


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
ChiTaRS3.1AW956968AP2A2chr11

1006527

-ACVRL1chr12

52312792

+
ChiTaRS3.1AA368346AP2A2chr11

1006527

-ACVRL1chr12

52312792

+
* 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-3CDSENST00000534328ENST00000388922AP2A2chr11

1006527

-ACVRL1chr12

52312792

+
intron-3CDSENST00000534328ENST00000550683AP2A2chr11

1006527

-ACVRL1chr12

52312792

+
intron-3CDSENST00000534328ENST00000419526AP2A2chr11

1006527

-ACVRL1chr12

52312792

+
intron-intronENST00000534328ENST00000550084AP2A2chr11

1006527

-ACVRL1chr12

52312792

+
intron-3CDSENST00000332231ENST00000388922AP2A2chr11

1006527

-ACVRL1chr12

52312792

+
intron-3CDSENST00000332231ENST00000550683AP2A2chr11

1006527

-ACVRL1chr12

52312792

+
intron-3CDSENST00000332231ENST00000419526AP2A2chr11

1006527

-ACVRL1chr12

52312792

+
intron-intronENST00000332231ENST00000550084AP2A2chr11

1006527

-ACVRL1chr12

52312792

+
intron-3CDSENST00000448903ENST00000388922AP2A2chr11

1006527

-ACVRL1chr12

52312792

+
intron-3CDSENST00000448903ENST00000550683AP2A2chr11

1006527

-ACVRL1chr12

52312792

+
intron-3CDSENST00000448903ENST00000419526AP2A2chr11

1006527

-ACVRL1chr12

52312792

+
intron-intronENST00000448903ENST00000550084AP2A2chr11

1006527

-ACVRL1chr12

52312792

+
intron-3CDSENST00000525891ENST00000388922AP2A2chr11

1006527

-ACVRL1chr12

52312792

+
intron-3CDSENST00000525891ENST00000550683AP2A2chr11

1006527

-ACVRL1chr12

52312792

+
intron-3CDSENST00000525891ENST00000419526AP2A2chr11

1006527

-ACVRL1chr12

52312792

+
intron-intronENST00000525891ENST00000550084AP2A2chr11

1006527

-ACVRL1chr12

52312792

+

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FusionProtFeatures for AP2A2_ACVRL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AP2A2

O94973

ACVRL1

P37023

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 alphasubunit binds polyphosphoinositide-containing lipids, positioningAP-2 on the membrane. The AP-2 alpha subunit acts via its C-terminal appendage domain as a scaffolding platform for endocyticaccessory proteins. The AP-2 alpha and AP-2 sigma subunits arethought to contribute to the recognition of the [ED]-X-X-X-L-[LI]motif (By similarity). {ECO:0000250, ECO:0000269|PubMed:12960147,ECO:0000269|PubMed:14745134, ECO:0000269|PubMed:15473838,ECO:0000269|PubMed:19033387}. Type I receptor for TGF-beta family ligands BMP9/GDF2and BMP10 and important regulator of normal blood vesseldevelopment. On ligand binding, forms a receptor complexconsisting of two type II and two type I transmembraneserine/threonine kinases. Type II receptors phosphorylate andactivate type I receptors which autophosphorylate, then bind andactivate SMAD transcriptional regulators. May bind activin aswell. {ECO:0000269|PubMed:22718755, ECO:0000269|PubMed:22799562,ECO:0000269|PubMed:26176610}.

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 AP2A2_ACVRL1


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 AP2A2_ACVRL1


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 AP2A2_ACVRL1


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 AP2A2_ACVRL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneACVRL1C1838163OSLER-RENDU-WEBER SYNDROME 211CTD_human;UNIPROT
TgeneACVRL1C0039445Hereditary hemorrhagic telangiectasia1CTD_human;ORPHANET