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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: 26451

FusionGeneSummary for PDGFB_DGCR2

check button Fusion gene summary
Fusion gene informationFusion gene name: PDGFB_DGCR2
Fusion gene ID: 26451
HgeneTgene
Gene symbol

PDGFB

DGCR2

Gene ID

5155

9993

Gene nameplatelet derived growth factor subunit BDiGeorge syndrome critical region gene 2
SynonymsIBGC5|PDGF-2|PDGF2|SIS|SSV|c-sisDGS-C|IDD|LAN|SEZ-12
Cytomap

22q13.1

22q11.21

Type of geneprotein-codingprotein-coding
Descriptionplatelet-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)plateintegral membrane protein DGCR2/IDDDiGeorge syndrome critical region protein 2integral membrane protein deleted in DiGeorge syndrome
Modification date2018052320180519
UniProtAcc

P01127

P98153

Ensembl transtripts involved in fusion geneENST00000331163, ENST00000381551, 
ENST00000537045, ENST00000263196, 
ENST00000545799, ENST00000473832, 
Fusion gene scores* DoF score2 X 2 X 2=86 X 6 X 3=108
# samples 26
** MAII scorelog2(2/8*10)=1.32192809488736log2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: PDGFB [Title/Abstract] AND DGCR2 [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
HgenePDGFB

GO:0001938

positive regulation of endothelial cell proliferation

9685360

HgenePDGFB

GO:0002548

monocyte chemotaxis

17991872

HgenePDGFB

GO:0006468

protein phosphorylation

17942966

HgenePDGFB

GO:0008284

positive regulation of cell proliferation

2439522|2836953|7073684

HgenePDGFB

GO:0009611

response to wounding

2538439

HgenePDGFB

GO:0010512

negative regulation of phosphatidylinositol biosynthetic process

2538439

HgenePDGFB

GO:0010544

negative regulation of platelet activation

2538439

HgenePDGFB

GO:0010628

positive regulation of gene expression

23554459|24008408

HgenePDGFB

GO:0010629

negative regulation of gene expression

23554459|25089138

HgenePDGFB

GO:0014068

positive regulation of phosphatidylinositol 3-kinase signaling

10734101|11788434|17942966

HgenePDGFB

GO:0014911

positive regulation of smooth muscle cell migration

9409235

HgenePDGFB

GO:0018105

peptidyl-serine phosphorylation

16530387

HgenePDGFB

GO:0018108

peptidyl-tyrosine phosphorylation

10734101|16530387

HgenePDGFB

GO:0030335

positive regulation of cell migration

11788434|21245381

HgenePDGFB

GO:0031954

positive regulation of protein autophosphorylation

12070119|16530387

HgenePDGFB

GO:0032091

negative regulation of protein binding

22619279

HgenePDGFB

GO:0032147

activation of protein kinase activity

16530387

HgenePDGFB

GO:0032148

activation of protein kinase B activity

16530387

HgenePDGFB

GO:0035655

interleukin-18-mediated signaling pathway

21321938

HgenePDGFB

GO:0035793

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

19019919

HgenePDGFB

GO:0043406

positive regulation of MAP kinase activity

9685360|11788434|16530387|17942966

HgenePDGFB

GO:0043536

positive regulation of blood vessel endothelial cell migration

9685360

HgenePDGFB

GO:0043552

positive regulation of phosphatidylinositol 3-kinase activity

16530387

HgenePDGFB

GO:0045737

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

16530387

HgenePDGFB

GO:0045840

positive regulation of mitotic nuclear division

10644978|10734101|17942966

HgenePDGFB

GO:0045892

negative regulation of transcription, DNA-templated

16530387|25089138

HgenePDGFB

GO:0045893

positive regulation of transcription, DNA-templated

16530387|17324121

HgenePDGFB

GO:0048008

platelet-derived growth factor receptor signaling pathway

2439522|2536956|2836953|19088079|21245381|23554459

HgenePDGFB

GO:0048146

positive regulation of fibroblast proliferation

2439522|10644978|17324121

HgenePDGFB

GO:0048661

positive regulation of smooth muscle cell proliferation

21321938

HgenePDGFB

GO:0050731

positive regulation of peptidyl-tyrosine phosphorylation

21245381

HgenePDGFB

GO:0050921

positive regulation of chemotaxis

9409235|19019919

HgenePDGFB

GO:0060326

cell chemotaxis

16014047|17991872|21245381

HgenePDGFB

GO:0061098

positive regulation of protein tyrosine kinase activity

16530387

HgenePDGFB

GO:0070374

positive regulation of ERK1 and ERK2 cascade

11788434|16530387|17942966

HgenePDGFB

GO:0071363

cellular response to growth factor stimulus

21245381

HgenePDGFB

GO:0072126

positive regulation of glomerular mesangial cell proliferation

11788434|16014047

HgenePDGFB

GO:0090280

positive regulation of calcium ion import

19019919

HgenePDGFB

GO:1900127

positive regulation of hyaluronan biosynthetic process

17324121

HgenePDGFB

GO:1902894

negative regulation of pri-miRNA transcription by RNA polymerase II

26493107

HgenePDGFB

GO:1902895

positive regulation of pri-miRNA transcription by RNA polymerase II

19088079

HgenePDGFB

GO:1904707

positive regulation of vascular smooth muscle cell proliferation

12070119|19088079|23554459

HgenePDGFB

GO:1904754

positive regulation of vascular associated smooth muscle cell migration

12070119|19088079|23554459

HgenePDGFB

GO:1905064

negative regulation of vascular smooth muscle cell differentiation

19088079

HgenePDGFB

GO:1905176

positive regulation of vascular smooth muscle cell dedifferentiation

19088079

HgenePDGFB

GO:2000379

positive regulation of reactive oxygen species metabolic process

19019919

HgenePDGFB

GO:2000573

positive regulation of DNA biosynthetic process

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

HgenePDGFB

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
TCGARVLGGTCGA-TM-A84J-01APDGFBchr22

39626089

-DGCR2chr22

19077003

-
* 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
5CDS-intronENST00000331163ENST00000537045PDGFBchr22

39626089

-DGCR2chr22

19077003

-
5CDS-intronENST00000331163ENST00000263196PDGFBchr22

39626089

-DGCR2chr22

19077003

-
5CDS-intronENST00000331163ENST00000545799PDGFBchr22

39626089

-DGCR2chr22

19077003

-
5CDS-intronENST00000331163ENST00000473832PDGFBchr22

39626089

-DGCR2chr22

19077003

-
5CDS-intronENST00000381551ENST00000537045PDGFBchr22

39626089

-DGCR2chr22

19077003

-
5CDS-intronENST00000381551ENST00000263196PDGFBchr22

39626089

-DGCR2chr22

19077003

-
5CDS-intronENST00000381551ENST00000545799PDGFBchr22

39626089

-DGCR2chr22

19077003

-
5CDS-intronENST00000381551ENST00000473832PDGFBchr22

39626089

-DGCR2chr22

19077003

-

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FusionProtFeatures for PDGFB_DGCR2


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

P01127

DGCR2

P98153

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}. Putative adhesion receptor, that could be involved incell-cell or cell-matrix interactions required for normal celldifferentiation and migration.

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 PDGFB_DGCR2


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 PDGFB_DGCR2


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
PDGFBPDGFRA, LRP1, SPARC, PDAP1, THBS1, PDGFB, HSPG2, MDFI, ADIPOQ, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL6A1, NRP1, LYVE1, PDGFRB, FAT3, DDX54, C11orf57, ZC3H4, MRPS18C, GPR98, RPL26L1, MRPS35, MRPS9, PTCD3, NSA2, MRPS33, RPL36AL, MRPL30, BRIX1, UTP23, FAT1, C1QBP, NOC2L, BMS1, NOC3L, MDM2, RPF2, MRPL47, MYCBP2, MRPS5, MRPL45, FREM2, MRPS31, NOC4L, DKC1, RPS3, MALSU1, DHX30, UTP3, MRPL27, RPL15, GNL2, RRP12, GLTSCR2, BUD13, RBM28, FAT4, MYBBP1A, RPS15, RBM34, GLYR1, MRPL51, CEBPZ, PPAN-P2RY11, TEX10, EBNA1BP2, KIAA0020, SRRM1, KRI1, MRPL13, MRPS24DGCR2SMURF2, DDIT3, HNRNPD, IL9R, WWP2, PTPRK, ZACN, HTR3C, ADAM33


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 PDGFB_DGCR2


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 PDGFB_DGCR2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePDGFBC0004782Basal Ganglia Diseases1CTD_human
HgenePDGFBC0006663Calcinosis1CTD_human
HgenePDGFBC0016059Fibrosis1CTD_human
HgenePDGFBC0017566Gingival Hyperplasia1CTD_human
HgenePDGFBC0034069Pulmonary Fibrosis1CTD_human
HgenePDGFBC0035309Retinal Diseases1CTD_human
HgenePDGFBC0040028Thrombocythemia, Essential1CTD_human
HgenePDGFBC0393590Fahr's syndrome (disorder)1CTD_human;ORPHANET
HgenePDGFBC2239176Liver carcinoma1CTD_human
HgenePDGFBC3809645BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 51UNIPROT
TgeneDGCR2C0036341Schizophrenia1CTD_human