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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:DGCR8-PDGFRB (FusionGDB2 ID:HG54487TG5159)

Fusion Gene Summary for DGCR8-PDGFRB

check button Fusion gene summary
Fusion gene informationFusion gene name: DGCR8-PDGFRB
Fusion gene ID: hg54487tg5159
HgeneTgene
Gene symbol

DGCR8

PDGFRB

Gene ID

54487

5159

Gene nameDGCR8 microprocessor complex subunitplatelet derived growth factor receptor beta
SynonymsC22orf12|DGCRK6|Gy1|pashaCD140B|IBGC4|IMF1|JTK12|KOGS|PDGFR|PDGFR-1|PDGFR1|PENTT
Cytomap('DGCR8')('PDGFRB')

22q11.21

5q32

Type of geneprotein-codingprotein-coding
Descriptionmicroprocessor complex subunit DGCR8DiGeorge syndrome critical region 8DiGeorge syndrome critical region gene 8platelet-derived growth factor receptor betaActivated tyrosine kinase PDGFRBCD140 antigen-like family member BNDEL1-PDGFRBPDGF-R-betaPDGFR-betabeta-type platelet-derived growth factor receptorplatelet-derived growth factor receptor 1platelet-deriv
Modification date2020032020200329
UniProtAcc.

P09619

Ensembl transtripts involved in fusion geneENST00000351989, ENST00000383024, 
ENST00000407755, 
Fusion gene scores* DoF score8 X 5 X 8=32028 X 26 X 6=4368
# samples 915
** MAII scorelog2(9/320*10)=-1.83007499855769
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(15/4368*10)=-4.86393845042397
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: DGCR8 [Title/Abstract] AND PDGFRB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointDGCR8(20067906)-PDGFRB(149516616), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneDGCR8

GO:0031053

primary miRNA processing

15531877|15574589|24449907|24910438

TgenePDGFRB

GO:0007165

signal transduction

10821867

TgenePDGFRB

GO:0010863

positive regulation of phospholipase C activity

1653029

TgenePDGFRB

GO:0018108

peptidyl-tyrosine phosphorylation

1653029|2536956|2850496

TgenePDGFRB

GO:0030335

positive regulation of cell migration

17470632

TgenePDGFRB

GO:0032516

positive regulation of phosphoprotein phosphatase activity

7691811

TgenePDGFRB

GO:0038091

positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway

17470632

TgenePDGFRB

GO:0043552

positive regulation of phosphatidylinositol 3-kinase activity

1314164

TgenePDGFRB

GO:0046777

protein autophosphorylation

1314164|2536956|2850496

TgenePDGFRB

GO:0048008

platelet-derived growth factor receptor signaling pathway

1314164|2536956

TgenePDGFRB

GO:0060326

cell chemotaxis

2554309|17991872



check button Fusion gene information
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4STADTCGA-BR-A4PE-01ADGCR8chr22

20067906

+PDGFRBchr5

149516616

-


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Fusion Gene ORF analysis for DGCR8-PDGFRB

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
5UTR-5UTRENST00000351989ENST00000261799DGCR8chr22

20067906

+PDGFRBchr5

149516616

-
5UTR-5UTRENST00000383024ENST00000261799DGCR8chr22

20067906

+PDGFRBchr5

149516616

-
5UTR-intronENST00000351989ENST00000523456DGCR8chr22

20067906

+PDGFRBchr5

149516616

-
5UTR-intronENST00000383024ENST00000523456DGCR8chr22

20067906

+PDGFRBchr5

149516616

-
intron-5UTRENST00000407755ENST00000261799DGCR8chr22

20067906

+PDGFRBchr5

149516616

-
intron-intronENST00000407755ENST00000523456DGCR8chr22

20067906

+PDGFRBchr5

149516616

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score

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Fusion Genomic Features for DGCR8-PDGFRB


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)


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Fusion Protein Features for DGCR8-PDGFRB


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/:20067906/:149516616)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

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

P09619

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.FUNCTION: Tyrosine-protein kinase that acts as cell-surface receptor for homodimeric PDGFB and PDGFD and for heterodimers formed by PDGFA and PDGFB, and plays an essential role in the regulation of embryonic development, cell proliferation, survival, differentiation, chemotaxis and migration. Plays an essential role in blood vessel development by promoting proliferation, migration and recruitment of pericytes and smooth muscle cells to endothelial cells. Plays a role in the migration of vascular smooth muscle cells and the formation of neointima at vascular injury sites. Required for normal development of the cardiovascular system. Required for normal recruitment of pericytes (mesangial cells) in the kidney glomerulus, and for normal formation of a branched network of capillaries in kidney glomeruli. Promotes rearrangement of the actin cytoskeleton and the formation of membrane ruffles. Binding of its cognate ligands - homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB or homodimeric PDGFD -leads to the activation of several signaling cascades; the response depends on the nature of the bound ligand and is modulated by the formation of heterodimers between PDGFRA and PDGFRB. Phosphorylates PLCG1, PIK3R1, PTPN11, RASA1/GAP, CBL, SHC1 and NCK1. Activation of PLCG1 leads to the production of the cellular signaling molecules diacylglycerol and inositol 1,4,5-trisphosphate, mobilization of cytosolic Ca(2+) and the activation of protein kinase C. Phosphorylation of PIK3R1, the regulatory subunit of phosphatidylinositol 3-kinase, leads to the activation of the AKT1 signaling pathway. Phosphorylation of SHC1, or of the C-terminus of PTPN11, creates a binding site for GRB2, resulting in the activation of HRAS, RAF1 and down-stream MAP kinases, including MAPK1/ERK2 and/or MAPK3/ERK1. Promotes phosphorylation and activation of SRC family kinases. Promotes phosphorylation of PDCD6IP/ALIX and STAM. Receptor signaling is down-regulated by protein phosphatases that dephosphorylate the receptor and its down-stream effectors, and by rapid internalization of the activated receptor. {ECO:0000269|PubMed:11297552, ECO:0000269|PubMed:11331881, ECO:0000269|PubMed:1314164, ECO:0000269|PubMed:1396585, ECO:0000269|PubMed:1653029, ECO:0000269|PubMed:1709159, ECO:0000269|PubMed:1846866, ECO:0000269|PubMed:20494825, ECO:0000269|PubMed:20529858, ECO:0000269|PubMed:21098708, ECO:0000269|PubMed:21679854, ECO:0000269|PubMed:21733313, ECO:0000269|PubMed:2554309, ECO:0000269|PubMed:26599395, ECO:0000269|PubMed:2835772, ECO:0000269|PubMed:2850496, ECO:0000269|PubMed:7685273, ECO:0000269|PubMed:7691811, ECO:0000269|PubMed:7692233, ECO:0000269|PubMed:8195171}.

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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Fusion Gene Sequence for DGCR8-PDGFRB


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.

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Fusion Gene PPI Analysis for DGCR8-PDGFRB


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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Related Drugs for DGCR8-PDGFRB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgenePDGFRBP09619DB00619ImatinibAntagonistSmall moleculeApproved
TgenePDGFRBP09619DB00619ImatinibAntagonistSmall moleculeApproved
TgenePDGFRBP09619DB00619ImatinibAntagonistSmall moleculeApproved
TgenePDGFRBP09619DB06589PazopanibInhibitorSmall moleculeApproved
TgenePDGFRBP09619DB06589PazopanibInhibitorSmall moleculeApproved
TgenePDGFRBP09619DB06589PazopanibInhibitorSmall moleculeApproved
TgenePDGFRBP09619DB08896RegorafenibInhibitorSmall moleculeApproved
TgenePDGFRBP09619DB08896RegorafenibInhibitorSmall moleculeApproved
TgenePDGFRBP09619DB08896RegorafenibInhibitorSmall moleculeApproved
TgenePDGFRBP09619DB09079NintedanibInhibitorSmall moleculeApproved
TgenePDGFRBP09619DB09079NintedanibInhibitorSmall moleculeApproved
TgenePDGFRBP09619DB09079NintedanibInhibitorSmall moleculeApproved
TgenePDGFRBP09619DB10770Foreskin fibroblast (neonatal)AgonistBiotechApproved
TgenePDGFRBP09619DB10770Foreskin fibroblast (neonatal)AgonistBiotechApproved
TgenePDGFRBP09619DB10770Foreskin fibroblast (neonatal)AgonistBiotechApproved
TgenePDGFRBP09619DB14840RipretinibInhibitorSmall moleculeApproved
TgenePDGFRBP09619DB14840RipretinibInhibitorSmall moleculeApproved
TgenePDGFRBP09619DB14840RipretinibInhibitorSmall moleculeApproved
TgenePDGFRBP09619DB00102BecaplerminBiotechApproved|Investigational
TgenePDGFRBP09619DB00102BecaplerminBiotechApproved|Investigational
TgenePDGFRBP09619DB00102BecaplerminBiotechApproved|Investigational
TgenePDGFRBP09619DB00398SorafenibAntagonistSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB00398SorafenibAntagonistSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB00398SorafenibAntagonistSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB01254DasatinibAntagonistSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB01254DasatinibAntagonistSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB01254DasatinibAntagonistSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB01268SunitinibInhibitorSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB01268SunitinibInhibitorSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB01268SunitinibInhibitorSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB06595MidostaurinAntagonist|InhibitorSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB06595MidostaurinAntagonist|InhibitorSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB06595MidostaurinAntagonist|InhibitorSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB12010FostamatinibInhibitorSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB12147ErdafitinibSubstrateSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB12147ErdafitinibSubstrateSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB12147ErdafitinibSubstrateSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB12978PexidartinibInhibitorSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB12978PexidartinibInhibitorSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB12978PexidartinibInhibitorSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational
TgenePDGFRBP09619DB15822PralsetinibInhibitorSmall moleculeApproved|Investigational

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Related Diseases for DGCR8-PDGFRB


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneDGCR8C0036341Schizophrenia3PSYGENET
HgeneDGCR8C0004930Behavior Disorders1CTD_human
HgeneDGCR8C0004936Mental disorders1CTD_human
HgeneDGCR8C0027708Nephroblastoma1CTD_human
HgeneDGCR8C0033975Psychotic Disorders1PSYGENET
HgeneDGCR8C0349204Nonorganic psychosis1PSYGENET
HgeneDGCR8C0376338Diagnosis, Psychiatric1CTD_human
HgeneDGCR8C2930471Bilateral Wilms Tumor1CTD_human
HgeneDGCR8C4046029Mental Disorders, Severe1CTD_human
TgeneC3554321BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 46CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0393590Fahr's syndrome (disorder)3GENOMICS_ENGLAND;ORPHANET
TgeneC4225270Kosaki overgrowth syndrome3CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC4551572MYOFIBROMATOSIS, INFANTILE, 13GENOMICS_ENGLAND;UNIPROT
TgeneC0013421Dystonia2GENOMICS_ENGLAND
TgeneC0023480Leukemia, Myelomonocytic, Chronic2ORPHANET
TgeneC0023893Liver Cirrhosis, Experimental2CTD_human
TgeneC0036341Schizophrenia2PSYGENET
TgeneC0432284Infantile myofibromatosis2CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneC0004782Basal Ganglia Diseases1CTD_human
TgeneC0006663Calcinosis1CTD_human
TgeneC0015371Extrapyramidal Disorders1CTD_human
TgeneC0036337Schizoaffective Disorder1PSYGENET
TgeneC0206648Myofibromatosis1GENOMICS_ENGLAND
TgeneC0263628Tumoral calcinosis1CTD_human
TgeneC0521174Microcalcification1CTD_human
TgeneC0750951Lenticulostriate Disorders1CTD_human
TgeneC1333046Myeloproliferative Neoplasm, Unclassifiable1ORPHANET
TgeneC1866182Penttinen-Aula syndrome1CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC3472621Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement1ORPHANET
TgeneC3714756Intellectual Disability1GENOMICS_ENGLAND