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Fusion gene ID: 26451 |
FusionGeneSummary for PDGFB_DGCR2 |
Fusion gene summary |
Fusion gene information | Fusion gene name: PDGFB_DGCR2 | Fusion gene ID: 26451 | Hgene | Tgene | Gene symbol | PDGFB | DGCR2 | Gene ID | 5155 | 9993 |
Gene name | platelet derived growth factor subunit B | DiGeorge syndrome critical region gene 2 | |
Synonyms | IBGC5|PDGF-2|PDGF2|SIS|SSV|c-sis | DGS-C|IDD|LAN|SEZ-12 | |
Cytomap | 22q13.1 | 22q11.21 | |
Type of gene | protein-coding | protein-coding | |
Description | platelet-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 | integral membrane protein DGCR2/IDDDiGeorge syndrome critical region protein 2integral membrane protein deleted in DiGeorge syndrome | |
Modification date | 20180523 | 20180519 | |
UniProtAcc | P01127 | P98153 | |
Ensembl transtripts involved in fusion gene | ENST00000331163, ENST00000381551, | ENST00000537045, ENST00000263196, ENST00000545799, ENST00000473832, | |
Fusion gene scores | * DoF score | 2 X 2 X 2=8 | 6 X 6 X 3=108 |
# samples | 2 | 6 | |
** MAII score | log2(2/8*10)=1.32192809488736 | log2(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | PDGFB | GO:0001938 | positive regulation of endothelial cell proliferation | 9685360 |
Hgene | PDGFB | GO:0002548 | monocyte chemotaxis | 17991872 |
Hgene | PDGFB | GO:0006468 | protein phosphorylation | 17942966 |
Hgene | PDGFB | GO:0008284 | positive regulation of cell proliferation | 2439522|2836953|7073684 |
Hgene | PDGFB | GO:0009611 | response to wounding | 2538439 |
Hgene | PDGFB | GO:0010512 | negative regulation of phosphatidylinositol biosynthetic process | 2538439 |
Hgene | PDGFB | GO:0010544 | negative regulation of platelet activation | 2538439 |
Hgene | PDGFB | GO:0010628 | positive regulation of gene expression | 23554459|24008408 |
Hgene | PDGFB | GO:0010629 | negative regulation of gene expression | 23554459|25089138 |
Hgene | PDGFB | GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling | 10734101|11788434|17942966 |
Hgene | PDGFB | GO:0014911 | positive regulation of smooth muscle cell migration | 9409235 |
Hgene | PDGFB | GO:0018105 | peptidyl-serine phosphorylation | 16530387 |
Hgene | PDGFB | GO:0018108 | peptidyl-tyrosine phosphorylation | 10734101|16530387 |
Hgene | PDGFB | GO:0030335 | positive regulation of cell migration | 11788434|21245381 |
Hgene | PDGFB | GO:0031954 | positive regulation of protein autophosphorylation | 12070119|16530387 |
Hgene | PDGFB | GO:0032091 | negative regulation of protein binding | 22619279 |
Hgene | PDGFB | GO:0032147 | activation of protein kinase activity | 16530387 |
Hgene | PDGFB | GO:0032148 | activation of protein kinase B activity | 16530387 |
Hgene | PDGFB | GO:0035655 | interleukin-18-mediated signaling pathway | 21321938 |
Hgene | PDGFB | GO:0035793 | positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway | 19019919 |
Hgene | PDGFB | GO:0043406 | positive regulation of MAP kinase activity | 9685360|11788434|16530387|17942966 |
Hgene | PDGFB | GO:0043536 | positive regulation of blood vessel endothelial cell migration | 9685360 |
Hgene | PDGFB | GO:0043552 | positive regulation of phosphatidylinositol 3-kinase activity | 16530387 |
Hgene | PDGFB | GO:0045737 | positive regulation of cyclin-dependent protein serine/threonine kinase activity | 16530387 |
Hgene | PDGFB | GO:0045840 | positive regulation of mitotic nuclear division | 10644978|10734101|17942966 |
Hgene | PDGFB | GO:0045892 | negative regulation of transcription, DNA-templated | 16530387|25089138 |
Hgene | PDGFB | GO:0045893 | positive regulation of transcription, DNA-templated | 16530387|17324121 |
Hgene | PDGFB | GO:0048008 | platelet-derived growth factor receptor signaling pathway | 2439522|2536956|2836953|19088079|21245381|23554459 |
Hgene | PDGFB | GO:0048146 | positive regulation of fibroblast proliferation | 2439522|10644978|17324121 |
Hgene | PDGFB | GO:0048661 | positive regulation of smooth muscle cell proliferation | 21321938 |
Hgene | PDGFB | GO:0050731 | positive regulation of peptidyl-tyrosine phosphorylation | 21245381 |
Hgene | PDGFB | GO:0050921 | positive regulation of chemotaxis | 9409235|19019919 |
Hgene | PDGFB | GO:0060326 | cell chemotaxis | 16014047|17991872|21245381 |
Hgene | PDGFB | GO:0061098 | positive regulation of protein tyrosine kinase activity | 16530387 |
Hgene | PDGFB | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 11788434|16530387|17942966 |
Hgene | PDGFB | GO:0071363 | cellular response to growth factor stimulus | 21245381 |
Hgene | PDGFB | GO:0072126 | positive regulation of glomerular mesangial cell proliferation | 11788434|16014047 |
Hgene | PDGFB | GO:0090280 | positive regulation of calcium ion import | 19019919 |
Hgene | PDGFB | GO:1900127 | positive regulation of hyaluronan biosynthetic process | 17324121 |
Hgene | PDGFB | GO:1902894 | negative regulation of pri-miRNA transcription by RNA polymerase II | 26493107 |
Hgene | PDGFB | GO:1902895 | positive regulation of pri-miRNA transcription by RNA polymerase II | 19088079 |
Hgene | PDGFB | GO:1904707 | positive regulation of vascular smooth muscle cell proliferation | 12070119|19088079|23554459 |
Hgene | PDGFB | GO:1904754 | positive regulation of vascular associated smooth muscle cell migration | 12070119|19088079|23554459 |
Hgene | PDGFB | GO:1905064 | negative regulation of vascular smooth muscle cell differentiation | 19088079 |
Hgene | PDGFB | GO:1905176 | positive regulation of vascular smooth muscle cell dedifferentiation | 19088079 |
Hgene | PDGFB | GO:2000379 | positive regulation of reactive oxygen species metabolic process | 19019919 |
Hgene | PDGFB | GO:2000573 | positive regulation of DNA biosynthetic process | 10644978|10734101|11788434|12070119|16530387|17942966|19019919 |
Hgene | PDGFB | GO:2000591 | positive regulation of metanephric mesenchymal cell migration | 10734101 |
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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
TCGA | RV | LGG | TCGA-TM-A84J-01A | PDGFB | chr22 | 39626089 | - | DGCR2 | chr22 | 19077003 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
5CDS-intron | ENST00000331163 | ENST00000537045 | PDGFB | chr22 | 39626089 | - | DGCR2 | chr22 | 19077003 | - |
5CDS-intron | ENST00000331163 | ENST00000263196 | PDGFB | chr22 | 39626089 | - | DGCR2 | chr22 | 19077003 | - |
5CDS-intron | ENST00000331163 | ENST00000545799 | PDGFB | chr22 | 39626089 | - | DGCR2 | chr22 | 19077003 | - |
5CDS-intron | ENST00000331163 | ENST00000473832 | PDGFB | chr22 | 39626089 | - | DGCR2 | chr22 | 19077003 | - |
5CDS-intron | ENST00000381551 | ENST00000537045 | PDGFB | chr22 | 39626089 | - | DGCR2 | chr22 | 19077003 | - |
5CDS-intron | ENST00000381551 | ENST00000263196 | PDGFB | chr22 | 39626089 | - | DGCR2 | chr22 | 19077003 | - |
5CDS-intron | ENST00000381551 | ENST00000545799 | PDGFB | chr22 | 39626089 | - | DGCR2 | chr22 | 19077003 | - |
5CDS-intron | ENST00000381551 | ENST00000473832 | PDGFB | chr22 | 39626089 | - | DGCR2 | chr22 | 19077003 | - |
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FusionProtFeatures for PDGFB_DGCR2 |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
PDGFB | DGCR2 |
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. |
Retention 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 . * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for PDGFB_DGCR2 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in . |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
PDGFB | PDGFRA, 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, MRPS24 | DGCR2 | SMURF2, DDIT3, HNRNPD, IL9R, WWP2, PTPRK, ZACN, HTR3C, ADAM33 |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for PDGFB_DGCR2 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for PDGFB_DGCR2 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | PDGFB | C0004782 | Basal Ganglia Diseases | 1 | CTD_human |
Hgene | PDGFB | C0006663 | Calcinosis | 1 | CTD_human |
Hgene | PDGFB | C0016059 | Fibrosis | 1 | CTD_human |
Hgene | PDGFB | C0017566 | Gingival Hyperplasia | 1 | CTD_human |
Hgene | PDGFB | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
Hgene | PDGFB | C0035309 | Retinal Diseases | 1 | CTD_human |
Hgene | PDGFB | C0040028 | Thrombocythemia, Essential | 1 | CTD_human |
Hgene | PDGFB | C0393590 | Fahr's syndrome (disorder) | 1 | CTD_human;ORPHANET |
Hgene | PDGFB | C2239176 | Liver carcinoma | 1 | CTD_human |
Hgene | PDGFB | C3809645 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 | 1 | UNIPROT |
Tgene | DGCR2 | C0036341 | Schizophrenia | 1 | CTD_human |