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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: 26458

FusionGeneSummary for PDGFRA_FAM204A

check button Fusion gene summary
Fusion gene informationFusion gene name: PDGFRA_FAM204A
Fusion gene ID: 26458
HgeneTgene
Gene symbol

PDGFRA

FAM204A

Gene ID

5156

63877

Gene nameplatelet derived growth factor receptor alphafamily with sequence similarity 204 member A
SynonymsCD140A|PDGFR-2|PDGFR2C10orf84|bA319I23.1
Cytomap

4q12

10q26.11

Type of geneprotein-codingprotein-coding
Descriptionplatelet-derived growth factor receptor alphaCD140 antigen-like family member ACD140a antigenPDGF-R-alphaalpha-type platelet-derived growth factor receptorplatelet-derived growth factor receptor 2platelet-derived growth factor receptor, alpha polypeprotein FAM204A
Modification date2018052320180519
UniProtAcc

P16234

Q9H8W3

Ensembl transtripts involved in fusion geneENST00000257290, ENST00000508170, 
ENST00000369183, ENST00000469758, 
ENST00000369172, 
Fusion gene scores* DoF score8 X 7 X 5=2801 X 1 X 1=1
# samples 101
** MAII scorelog2(10/280*10)=-1.48542682717024
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(1/1*10)=3.32192809488736
Context

PubMed: PDGFRA [Title/Abstract] AND FAM204A [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
HgenePDGFRA

GO:0008284

positive regulation of cell proliferation

10806482

HgenePDGFRA

GO:0010544

negative regulation of platelet activation

8188664

HgenePDGFRA

GO:0018108

peptidyl-tyrosine phosphorylation

1646396|2536956|8188664

HgenePDGFRA

GO:0030335

positive regulation of cell migration

17470632

HgenePDGFRA

GO:0034614

cellular response to reactive oxygen species

24190966

HgenePDGFRA

GO:0038091

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

17470632

HgenePDGFRA

GO:0046777

protein autophosphorylation

1646396|2536956|8188664

HgenePDGFRA

GO:0048008

platelet-derived growth factor receptor signaling pathway

2536956|10806482

HgenePDGFRA

GO:0048146

positive regulation of fibroblast proliferation

10806482


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
ChiTaRS3.1BF819034PDGFRAchr4

54343008

+FAM204Achr10

120095919

-
* 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-3CDSENST00000257290ENST00000369183PDGFRAchr4

54343008

+FAM204Achr10

120095919

-
intron-5UTRENST00000257290ENST00000469758PDGFRAchr4

54343008

+FAM204Achr10

120095919

-
intron-5UTRENST00000257290ENST00000369172PDGFRAchr4

54343008

+FAM204Achr10

120095919

-
intron-3CDSENST00000508170ENST00000369183PDGFRAchr4

54343008

+FAM204Achr10

120095919

-
intron-5UTRENST00000508170ENST00000469758PDGFRAchr4

54343008

+FAM204Achr10

120095919

-
intron-5UTRENST00000508170ENST00000369172PDGFRAchr4

54343008

+FAM204Achr10

120095919

-

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FusionProtFeatures for PDGFRA_FAM204A


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

P16234

FAM204A

Q9H8W3

Tyrosine-protein kinase that acts as a cell-surfacereceptor for PDGFA, PDGFB and PDGFC and plays an essential role inthe regulation of embryonic development, cell proliferation,survival and chemotaxis. Depending on the context, promotes orinhibits cell proliferation and cell migration. Plays an importantrole in the differentiation of bone marrow-derived mesenchymalstem cells. Required for normal skeleton development and cephalicclosure during embryonic development. Required for normaldevelopment of the mucosa lining the gastrointestinal tract, andfor recruitment of mesenchymal cells and normal development ofintestinal villi. Plays a role in cell migration and chemotaxis inwound healing. Plays a role in platelet activation, secretion ofagonists from platelet granules, and in thrombin-induced plateletaggregation. Binding of its cognate ligands - homodimeric PDGFA,homodimeric PDGFB, heterodimers formed by PDGFA and PDGFB orhomodimeric PDGFC -leads to the activation of several signalingcascades; the response depends on the nature of the bound ligandand is modulated by the formation of heterodimers between PDGFRAand PDGFRB. Phosphorylates PIK3R1, PLCG1, and PTPN11. Activationof PLCG1 leads to the production of the cellular signalingmolecules diacylglycerol and inositol 1,4,5-trisphosphate,mobilization of cytosolic Ca(2+) and the activation of proteinkinase C. Phosphorylates PIK3R1, the regulatory subunit ofphosphatidylinositol 3-kinase, and thereby mediates activation ofthe AKT1 signaling pathway. Mediates activation of HRAS and of theMAP kinases MAPK1/ERK2 and/or MAPK3/ERK1. Promotes activation ofSTAT family members STAT1, STAT3 and STAT5A and/or STAT5B.Receptor signaling is down-regulated by protein phosphatases thatdephosphorylate the receptor and its down-stream effectors, and byrapid internalization of the activated receptor.{ECO:0000269|PubMed:10734113, ECO:0000269|PubMed:10947961,ECO:0000269|PubMed:11297552, ECO:0000269|PubMed:12522257,ECO:0000269|PubMed:1646396, ECO:0000269|PubMed:1709159,ECO:0000269|PubMed:17141222, ECO:0000269|PubMed:20972453,ECO:0000269|PubMed:21224473, ECO:0000269|PubMed:21596750,ECO:0000269|PubMed:2554309, ECO:0000269|PubMed:8188664,ECO:0000269|PubMed:8760137, ECO:0000269|PubMed:8943348}.

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 PDGFRA_FAM204A


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 PDGFRA_FAM204A


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 PDGFRA_FAM204A


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgenePDGFRAP16234DB00619ImatinibPlatelet-derived growth factor receptor alphasmall moleculeapproved
HgenePDGFRAP16234DB06589PazopanibPlatelet-derived growth factor receptor alphasmall moleculeapproved
HgenePDGFRAP16234DB08896RegorafenibPlatelet-derived growth factor receptor alphasmall moleculeapproved
HgenePDGFRAP16234DB00102BecaplerminPlatelet-derived growth factor receptor alphabiotechapproved|investigational
HgenePDGFRAP16234DB01268SunitinibPlatelet-derived growth factor receptor alphasmall moleculeapproved|investigational
HgenePDGFRAP16234DB08901PonatinibPlatelet-derived growth factor receptor alphasmall moleculeapproved|investigational

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RelatedDiseases for PDGFRA_FAM204A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePDGFRAC0238198Gastrointestinal Stromal Tumors2CTD_human;HPO;ORPHANET;UNIPROT
HgenePDGFRAC0008925Cleft Palate1CTD_human
HgenePDGFRAC0015923Fetal Alcohol Syndrome1PSYGENET
HgenePDGFRAC0023893Liver Cirrhosis, Experimental1CTD_human
HgenePDGFRAC0024115Lung diseases1CTD_human
HgenePDGFRAC0025149Medulloblastoma1CTD_human
HgenePDGFRAC0035238Congenital abnormality of respiratory system1CTD_human
HgenePDGFRAC0080178Spina Bifida1CTD_human
HgenePDGFRAC0206637Chondrosarcoma, Mesenchymal1CTD_human
HgenePDGFRAC0376634Craniofacial Abnormalities1CTD_human
HgenePDGFRAC1540912Hypereosinophilic syndrome1CTD_human
HgenePDGFRAC2985290Fetal Alcohol Spectrum Disorders1PSYGENET