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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: 17694

FusionGeneSummary for IQGAP2_PDGFB

check button Fusion gene summary
Fusion gene informationFusion gene name: IQGAP2_PDGFB
Fusion gene ID: 17694
HgeneTgene
Gene symbol

IQGAP2

PDGFB

Gene ID

10788

5155

Gene nameIQ motif containing GTPase activating protein 2platelet derived growth factor subunit B
Synonyms-IBGC5|PDGF-2|PDGF2|SIS|SSV|c-sis
Cytomap

5q13.3

22q13.1

Type of geneprotein-codingprotein-coding
Descriptionras GTPase-activating-like protein IQGAP2platelet-derived growth factor subunit BPDGF subunit BPDGF, B chainbecaplerminplatelet-derived growth factor 2platelet-derived growth factor B chainplatelet-derived growth factor beta polypeptide (simian sarcoma viral (v-sis) oncogene homolog)plate
Modification date2018052220180523
UniProtAcc

Q13576

P01127

Ensembl transtripts involved in fusion geneENST00000274364, ENST00000379730, 
ENST00000396234, ENST00000502745, 
ENST00000508410, 
ENST00000331163, 
ENST00000381551, 
Fusion gene scores* DoF score4 X 3 X 3=362 X 4 X 1=8
# samples 415
** MAII scorelog2(4/36*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(15/8*10)=4.22881869049588
Context

PubMed: IQGAP2 [Title/Abstract] AND PDGFB [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
HgeneIQGAP2

GO:0034314

Arp2/3 complex-mediated actin nucleation

12515716

HgeneIQGAP2

GO:0070493

thrombin-activated receptor signaling pathway

12515716

TgenePDGFB

GO:0001938

positive regulation of endothelial cell proliferation

9685360

TgenePDGFB

GO:0002548

monocyte chemotaxis

17991872

TgenePDGFB

GO:0006468

protein phosphorylation

17942966

TgenePDGFB

GO:0008284

positive regulation of cell proliferation

2439522|2836953|7073684

TgenePDGFB

GO:0009611

response to wounding

2538439

TgenePDGFB

GO:0010512

negative regulation of phosphatidylinositol biosynthetic process

2538439

TgenePDGFB

GO:0010544

negative regulation of platelet activation

2538439

TgenePDGFB

GO:0010628

positive regulation of gene expression

23554459|24008408

TgenePDGFB

GO:0010629

negative regulation of gene expression

23554459|25089138

TgenePDGFB

GO:0014068

positive regulation of phosphatidylinositol 3-kinase signaling

10734101|11788434|17942966

TgenePDGFB

GO:0014911

positive regulation of smooth muscle cell migration

9409235

TgenePDGFB

GO:0018105

peptidyl-serine phosphorylation

16530387

TgenePDGFB

GO:0018108

peptidyl-tyrosine phosphorylation

10734101|16530387

TgenePDGFB

GO:0030335

positive regulation of cell migration

11788434|21245381

TgenePDGFB

GO:0031954

positive regulation of protein autophosphorylation

12070119|16530387

TgenePDGFB

GO:0032091

negative regulation of protein binding

22619279

TgenePDGFB

GO:0032147

activation of protein kinase activity

16530387

TgenePDGFB

GO:0032148

activation of protein kinase B activity

16530387

TgenePDGFB

GO:0035655

interleukin-18-mediated signaling pathway

21321938

TgenePDGFB

GO:0035793

positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway

19019919

TgenePDGFB

GO:0043406

positive regulation of MAP kinase activity

9685360|11788434|16530387|17942966

TgenePDGFB

GO:0043536

positive regulation of blood vessel endothelial cell migration

9685360

TgenePDGFB

GO:0043552

positive regulation of phosphatidylinositol 3-kinase activity

16530387

TgenePDGFB

GO:0045737

positive regulation of cyclin-dependent protein serine/threonine kinase activity

16530387

TgenePDGFB

GO:0045840

positive regulation of mitotic nuclear division

10644978|10734101|17942966

TgenePDGFB

GO:0045892

negative regulation of transcription, DNA-templated

16530387|25089138

TgenePDGFB

GO:0045893

positive regulation of transcription, DNA-templated

16530387|17324121

TgenePDGFB

GO:0048008

platelet-derived growth factor receptor signaling pathway

2439522|2536956|2836953|19088079|21245381|23554459

TgenePDGFB

GO:0048146

positive regulation of fibroblast proliferation

2439522|10644978|17324121

TgenePDGFB

GO:0048661

positive regulation of smooth muscle cell proliferation

21321938

TgenePDGFB

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

21245381

TgenePDGFB

GO:0050921

positive regulation of chemotaxis

9409235|19019919

TgenePDGFB

GO:0060326

cell chemotaxis

16014047|17991872|21245381

TgenePDGFB

GO:0061098

positive regulation of protein tyrosine kinase activity

16530387

TgenePDGFB

GO:0070374

positive regulation of ERK1 and ERK2 cascade

11788434|16530387|17942966

TgenePDGFB

GO:0071363

cellular response to growth factor stimulus

21245381

TgenePDGFB

GO:0072126

positive regulation of glomerular mesangial cell proliferation

11788434|16014047

TgenePDGFB

GO:0090280

positive regulation of calcium ion import

19019919

TgenePDGFB

GO:1900127

positive regulation of hyaluronan biosynthetic process

17324121

TgenePDGFB

GO:1902894

negative regulation of pri-miRNA transcription by RNA polymerase II

26493107

TgenePDGFB

GO:1902895

positive regulation of pri-miRNA transcription by RNA polymerase II

19088079

TgenePDGFB

GO:1904707

positive regulation of vascular smooth muscle cell proliferation

12070119|19088079|23554459

TgenePDGFB

GO:1904754

positive regulation of vascular associated smooth muscle cell migration

12070119|19088079|23554459

TgenePDGFB

GO:1905064

negative regulation of vascular smooth muscle cell differentiation

19088079

TgenePDGFB

GO:1905176

positive regulation of vascular smooth muscle cell dedifferentiation

19088079

TgenePDGFB

GO:2000379

positive regulation of reactive oxygen species metabolic process

19019919

TgenePDGFB

GO:2000573

positive regulation of DNA biosynthetic process

10644978|10734101|11788434|12070119|16530387|17942966|19019919

TgenePDGFB

GO:2000591

positive regulation of metanephric mesenchymal cell migration

10734101


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
ChiTaRS3.1K01400IQGAP2chr5

75943139

-PDGFBchr22

39626239

-
* 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-3CDSENST00000274364ENST00000331163IQGAP2chr5

75943139

-PDGFBchr22

39626239

-
intron-3CDSENST00000274364ENST00000381551IQGAP2chr5

75943139

-PDGFBchr22

39626239

-
intron-3CDSENST00000379730ENST00000331163IQGAP2chr5

75943139

-PDGFBchr22

39626239

-
intron-3CDSENST00000379730ENST00000381551IQGAP2chr5

75943139

-PDGFBchr22

39626239

-
intron-3CDSENST00000396234ENST00000331163IQGAP2chr5

75943139

-PDGFBchr22

39626239

-
intron-3CDSENST00000396234ENST00000381551IQGAP2chr5

75943139

-PDGFBchr22

39626239

-
intron-3CDSENST00000502745ENST00000331163IQGAP2chr5

75943139

-PDGFBchr22

39626239

-
intron-3CDSENST00000502745ENST00000381551IQGAP2chr5

75943139

-PDGFBchr22

39626239

-
intron-3CDSENST00000508410ENST00000331163IQGAP2chr5

75943139

-PDGFBchr22

39626239

-
intron-3CDSENST00000508410ENST00000381551IQGAP2chr5

75943139

-PDGFBchr22

39626239

-

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FusionProtFeatures for IQGAP2_PDGFB


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
IQGAP2

Q13576

PDGFB

P01127

Binds to activated CDC42 and RAC1 but does not seem tostimulate their GTPase activity. Associates with calmodulin. Growth factor that plays an essential role in theregulation of embryonic development, cell proliferation, cellmigration, survival and chemotaxis. Potent mitogen for cells ofmesenchymal origin (PubMed:26599395). Required for normalproliferation and recruitment of pericytes and vascular smoothmuscle cells in the central nervous system, skin, lung, heart andplacenta. Required for normal blood vessel development, and fornormal development of kidney glomeruli. Plays an important role inwound healing. Signaling is modulated by the formation ofheterodimers with PDGFA (By similarity).{ECO:0000250|UniProtKB:P31240, ECO:0000269|PubMed:26599395}.

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 IQGAP2_PDGFB


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 IQGAP2_PDGFB


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 IQGAP2_PDGFB


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 IQGAP2_PDGFB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneIQGAP2C2239176Liver carcinoma1CTD_human
TgenePDGFBC0004782Basal Ganglia Diseases1CTD_human
TgenePDGFBC0006663Calcinosis1CTD_human
TgenePDGFBC0016059Fibrosis1CTD_human
TgenePDGFBC0017566Gingival Hyperplasia1CTD_human
TgenePDGFBC0034069Pulmonary Fibrosis1CTD_human
TgenePDGFBC0035309Retinal Diseases1CTD_human
TgenePDGFBC0040028Thrombocythemia, Essential1CTD_human
TgenePDGFBC0393590Fahr's syndrome (disorder)1CTD_human;ORPHANET
TgenePDGFBC2239176Liver carcinoma1CTD_human
TgenePDGFBC3809645BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 51UNIPROT