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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: 17856

FusionGeneSummary for ITGAV_PDE11A

check button Fusion gene summary
Fusion gene informationFusion gene name: ITGAV_PDE11A
Fusion gene ID: 17856
HgeneTgene
Gene symbol

ITGAV

PDE11A

Gene ID

3685

50940

Gene nameintegrin subunit alpha Vphosphodiesterase 11A
SynonymsCD51|MSK8|VNRA|VTNRPPNAD2
Cytomap

2q32.1

2q31.2

Type of geneprotein-codingprotein-coding
Descriptionintegrin alpha-Vantigen identified by monoclonal antibody L230integrin alphaVbeta3integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)vitronectin receptor subunit alphadual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11AcAMP and cGMP cyclic nucleotide phosphodiesterase 11A
Modification date2018052020180329
UniProtAcc

P06756

Q9HCR9

Ensembl transtripts involved in fusion geneENST00000261023, ENST00000374907, 
ENST00000433736, ENST00000474571, 
ENST00000286063, ENST00000358450, 
ENST00000450799, ENST00000409504, 
ENST00000389683, ENST00000449286, 
ENST00000497003, 
Fusion gene scores* DoF score5 X 4 X 5=1008 X 4 X 6=192
# samples 58
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/192*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ITGAV [Title/Abstract] AND PDE11A [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotationTumor suppressor gene involved fusion gene, retained protein feature but frameshift.
DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their domain.
* 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
HgeneITGAV

GO:0007155

cell adhesion

10218736

HgeneITGAV

GO:0008284

positive regulation of cell proliferation

19578119

HgeneITGAV

GO:0033627

cell adhesion mediated by integrin

12807887|17158881

HgeneITGAV

GO:0034446

substrate adhesion-dependent cell spreading

24658351

HgeneITGAV

GO:0045785

positive regulation of cell adhesion

10708943

HgeneITGAV

GO:0050764

regulation of phagocytosis

10570297

HgeneITGAV

GO:0070588

calcium ion transmembrane transport

18395422

HgeneITGAV

GO:2000536

negative regulation of entry of bacterium into host cell

10570297


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
TCGARVLUADTCGA-44-A4SS-01AITGAVchr2

187455250

+PDE11Achr2

178769914

-
* 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-shitENST00000261023ENST00000286063ITGAVchr2

187455250

+PDE11Achr2

178769914

-
Frame-shitENST00000261023ENST00000358450ITGAVchr2

187455250

+PDE11Achr2

178769914

-
5CDS-intronENST00000261023ENST00000450799ITGAVchr2

187455250

+PDE11Achr2

178769914

-
5CDS-5UTRENST00000261023ENST00000409504ITGAVchr2

187455250

+PDE11Achr2

178769914

-
5CDS-intronENST00000261023ENST00000389683ITGAVchr2

187455250

+PDE11Achr2

178769914

-
5CDS-5UTRENST00000261023ENST00000449286ITGAVchr2

187455250

+PDE11Achr2

178769914

-
5CDS-5UTRENST00000261023ENST00000497003ITGAVchr2

187455250

+PDE11Achr2

178769914

-
Frame-shitENST00000374907ENST00000286063ITGAVchr2

187455250

+PDE11Achr2

178769914

-
Frame-shitENST00000374907ENST00000358450ITGAVchr2

187455250

+PDE11Achr2

178769914

-
5CDS-intronENST00000374907ENST00000450799ITGAVchr2

187455250

+PDE11Achr2

178769914

-
5CDS-5UTRENST00000374907ENST00000409504ITGAVchr2

187455250

+PDE11Achr2

178769914

-
5CDS-intronENST00000374907ENST00000389683ITGAVchr2

187455250

+PDE11Achr2

178769914

-
5CDS-5UTRENST00000374907ENST00000449286ITGAVchr2

187455250

+PDE11Achr2

178769914

-
5CDS-5UTRENST00000374907ENST00000497003ITGAVchr2

187455250

+PDE11Achr2

178769914

-
intron-3CDSENST00000433736ENST00000286063ITGAVchr2

187455250

+PDE11Achr2

178769914

-
intron-3CDSENST00000433736ENST00000358450ITGAVchr2

187455250

+PDE11Achr2

178769914

-
intron-intronENST00000433736ENST00000450799ITGAVchr2

187455250

+PDE11Achr2

178769914

-
intron-5UTRENST00000433736ENST00000409504ITGAVchr2

187455250

+PDE11Achr2

178769914

-
intron-intronENST00000433736ENST00000389683ITGAVchr2

187455250

+PDE11Achr2

178769914

-
intron-5UTRENST00000433736ENST00000449286ITGAVchr2

187455250

+PDE11Achr2

178769914

-
intron-5UTRENST00000433736ENST00000497003ITGAVchr2

187455250

+PDE11Achr2

178769914

-
intron-3CDSENST00000474571ENST00000286063ITGAVchr2

187455250

+PDE11Achr2

178769914

-
intron-3CDSENST00000474571ENST00000358450ITGAVchr2

187455250

+PDE11Achr2

178769914

-
intron-intronENST00000474571ENST00000450799ITGAVchr2

187455250

+PDE11Achr2

178769914

-
intron-5UTRENST00000474571ENST00000409504ITGAVchr2

187455250

+PDE11Achr2

178769914

-
intron-intronENST00000474571ENST00000389683ITGAVchr2

187455250

+PDE11Achr2

178769914

-
intron-5UTRENST00000474571ENST00000449286ITGAVchr2

187455250

+PDE11Achr2

178769914

-
intron-5UTRENST00000474571ENST00000497003ITGAVchr2

187455250

+PDE11Achr2

178769914

-

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FusionProtFeatures for ITGAV_PDE11A


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

P06756

PDE11A

Q9HCR9

Plays a role in signal transduction by regulating theintracellular concentration of cyclic nucleotides cAMP and cGMP.Catalyzes the hydrolysis of both cAMP and cGMP to 5'-AMP and 5'-GMP, respectively. {ECO:0000269|PubMed:10725373,ECO:0000269|PubMed:10906126, ECO:0000269|PubMed:11050148}.

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 ITGAV_PDE11A


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 ITGAV_PDE11A


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
ITGAVNOV, ILK, ITGB3, AUP1, L1CAM, CYR61, PLP1, MMP2, CSF1R, CBL, BCAR1, PHKA2, PXN, FBXO6, MCAT, KRT3, FN1, THBS1, EPHA2, TAZ, SUSD4, DPEP2, NTRK1, ITGB1, PSMD12, SPP1, LGALS3BP, FBXW7, MAPK3, NCOR1, NCOR2, EP300, MAPK1, STAT1, SHC1, PTK2, PLA2G2A, ADAM9, ERBB2, ANGPT2, NCL, PAK4, TNFSF13B, LYZL2, NAAA, DEFA1, ST3GAL1, GGH, TMEM25, ST8SIA4, TCTN2, INSL5, FCGR3B, EDIL3, FUT8, PTCH1, B3GNT2, UBC, ITGA4, ITGAV, ITGB5, AGMAT, TRIM25PDE11A


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 ITGAV_PDE11A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneITGAVP06756DB00098Antithymocyte immunoglobulin (rabbit)Integrin alpha-Vbiotechapproved
TgenePDE11AQ9HCR9DB00820TadalafilDual 3',5'-cyclic-AMP and -GMP phosphodiesterase 11Asmall moleculeapproved|investigational

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RelatedDiseases for ITGAV_PDE11A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneITGAVC0038454Cerebrovascular accident1CTD_human
HgeneITGAVC2937358Cerebral Hemorrhage1CTD_human
TgenePDE11AC0041696Unipolar Depression1PSYGENET
TgenePDE11AC1269683Major Depressive Disorder1PSYGENET