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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: 3370

FusionGeneSummary for ATP2C1_PDGFRA

check button Fusion gene summary
Fusion gene informationFusion gene name: ATP2C1_PDGFRA
Fusion gene ID: 3370
HgeneTgene
Gene symbol

ATP2C1

PDGFRA

Gene ID

27032

5156

Gene nameATPase secretory pathway Ca2+ transporting 1platelet derived growth factor receptor alpha
SynonymsATP2C1A|BCPM|HHD|PMR1|SPCA1|hSPCA1CD140A|PDGFR-2|PDGFR2
Cytomap

3q22.1

4q12

Type of geneprotein-codingprotein-coding
Descriptioncalcium-transporting ATPase type 2C member 1ATP-dependent Ca(2+) pump PMR1ATPase 2C1ATPase, Ca(2+)-sequesteringATPase, Ca++ transporting, type 2C, member 1HUSSY-28secretory pathway Ca2+/Mn2+ ATPase 1platelet-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 polype
Modification date2018052320180523
UniProtAcc

P98194

P16234

Ensembl transtripts involved in fusion geneENST00000505330, ENST00000504381, 
ENST00000507488, ENST00000393221, 
ENST00000533801, ENST00000510168, 
ENST00000508532, ENST00000504948, 
ENST00000513801, ENST00000328560, 
ENST00000428331, ENST00000359644, 
ENST00000422190, ENST00000509150, 
ENST00000257290, ENST00000508170, 
Fusion gene scores* DoF score10 X 10 X 6=60012 X 13 X 4=624
# samples 1013
** MAII scorelog2(10/600*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/624*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ATP2C1 [Title/Abstract] AND PDGFRA [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
HgeneATP2C1

GO:0006816

calcium ion transport

12810057

HgeneATP2C1

GO:0006874

cellular calcium ion homeostasis

12810057

TgenePDGFRA

GO:0008284

positive regulation of cell proliferation

10806482

TgenePDGFRA

GO:0010544

negative regulation of platelet activation

8188664

TgenePDGFRA

GO:0018108

peptidyl-tyrosine phosphorylation

1646396|2536956|8188664

TgenePDGFRA

GO:0030335

positive regulation of cell migration

17470632

TgenePDGFRA

GO:0034614

cellular response to reactive oxygen species

24190966

TgenePDGFRA

GO:0038091

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

17470632

TgenePDGFRA

GO:0046777

protein autophosphorylation

1646396|2536956|8188664

TgenePDGFRA

GO:0048008

platelet-derived growth factor receptor signaling pathway

2536956|10806482

TgenePDGFRA

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
ChiTaRS3.1BQ311503ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
* 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-intronENST00000505330ENST00000257290ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000505330ENST00000508170ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000504381ENST00000257290ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000504381ENST00000508170ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000507488ENST00000257290ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000507488ENST00000508170ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000393221ENST00000257290ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000393221ENST00000508170ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000533801ENST00000257290ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000533801ENST00000508170ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000510168ENST00000257290ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000510168ENST00000508170ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000508532ENST00000257290ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000508532ENST00000508170ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000504948ENST00000257290ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000504948ENST00000508170ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000513801ENST00000257290ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000513801ENST00000508170ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000328560ENST00000257290ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000328560ENST00000508170ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000428331ENST00000257290ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000428331ENST00000508170ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000359644ENST00000257290ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000359644ENST00000508170ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000422190ENST00000257290ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
5CDS-intronENST00000422190ENST00000508170ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
intron-intronENST00000509150ENST00000257290ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-
intron-intronENST00000509150ENST00000508170ATP2C1chr3

130712838

-PDGFRAchr4

55009556

-

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FusionProtFeatures for ATP2C1_PDGFRA


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ATP2C1

P98194

PDGFRA

P16234

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 ATP2C1_PDGFRA


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 ATP2C1_PDGFRA


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 ATP2C1_PDGFRA


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneATP2C1P98194DB01189DesfluraneCalcium-transporting ATPase type 2C member 1small moleculeapproved
HgeneATP2C1P98194DB00228EnfluraneCalcium-transporting ATPase type 2C member 1small moleculeapproved|investigational|vet_approved
HgeneATP2C1P98194DB01028MethoxyfluraneCalcium-transporting ATPase type 2C member 1small moleculeapproved|investigational|vet_approved
HgeneATP2C1P98194DB01373CalciumCalcium-transporting ATPase type 2C member 1small moleculeapproved|nutraceutical
HgeneATP2C1P98194DB00753IsofluraneCalcium-transporting ATPase type 2C member 1small moleculeapproved|vet_approved
HgeneATP2C1P98194DB01159HalothaneCalcium-transporting ATPase type 2C member 1small moleculeapproved|vet_approved
HgeneATP2C1P98194DB01236SevofluraneCalcium-transporting ATPase type 2C member 1small moleculeapproved|vet_approved
TgenePDGFRAP16234DB00619ImatinibPlatelet-derived growth factor receptor alphasmall moleculeapproved
TgenePDGFRAP16234DB06589PazopanibPlatelet-derived growth factor receptor alphasmall moleculeapproved
TgenePDGFRAP16234DB08896RegorafenibPlatelet-derived growth factor receptor alphasmall moleculeapproved
TgenePDGFRAP16234DB00102BecaplerminPlatelet-derived growth factor receptor alphabiotechapproved|investigational
TgenePDGFRAP16234DB01268SunitinibPlatelet-derived growth factor receptor alphasmall moleculeapproved|investigational
TgenePDGFRAP16234DB08901PonatinibPlatelet-derived growth factor receptor alphasmall moleculeapproved|investigational

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RelatedDiseases for ATP2C1_PDGFRA


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneATP2C1C0085106Familial benign pemphigus7CTD_human;ORPHANET;UNIPROT
TgenePDGFRAC0238198Gastrointestinal Stromal Tumors2CTD_human;HPO;ORPHANET;UNIPROT
TgenePDGFRAC0008925Cleft Palate1CTD_human
TgenePDGFRAC0015923Fetal Alcohol Syndrome1PSYGENET
TgenePDGFRAC0023893Liver Cirrhosis, Experimental1CTD_human
TgenePDGFRAC0024115Lung diseases1CTD_human
TgenePDGFRAC0025149Medulloblastoma1CTD_human
TgenePDGFRAC0035238Congenital abnormality of respiratory system1CTD_human
TgenePDGFRAC0080178Spina Bifida1CTD_human
TgenePDGFRAC0206637Chondrosarcoma, Mesenchymal1CTD_human
TgenePDGFRAC0376634Craniofacial Abnormalities1CTD_human
TgenePDGFRAC1540912Hypereosinophilic syndrome1CTD_human
TgenePDGFRAC2985290Fetal Alcohol Spectrum Disorders1PSYGENET