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Fusion gene ID: 26450 |
FusionGeneSummary for PDGFA_OCA2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: PDGFA_OCA2 | Fusion gene ID: 26450 | Hgene | Tgene | Gene symbol | PDGFA | OCA2 | Gene ID | 5154 | 4948 |
| Gene name | platelet derived growth factor subunit A | OCA2 melanosomal transmembrane protein | |
| Synonyms | PDGF-A|PDGF1 | BEY|BEY1|BEY2|BOCA|D15S12|EYCL|EYCL2|EYCL3|HCL3|P|PED|SHEP1 | |
| Cytomap | 7p22.3 | 15q12-q13.1 | |
| Type of gene | protein-coding | protein-coding | |
| Description | platelet-derived growth factor subunit APDGF A-chainPDGF subunit Aplatelet-derived growth factor A-chainplatelet-derived growth factor alpha chainplatelet-derived growth factor alpha polypeptide | P proteinP-proteineye color 2 (central brown)eye color 3 (brown)hair color 3 (brown)melanocyte-specific transporter proteinoculocutaneous albinism II (pink-eye dilution homolog, mouse)pink-eyed dilution protein homologtotal brown iris pigmentation | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P04085 | Q04671 | |
| Ensembl transtripts involved in fusion gene | ENST00000402802, ENST00000354513, ENST00000426681, | ENST00000353809, ENST00000354638, ENST00000382996, | |
| Fusion gene scores | * DoF score | 3 X 3 X 3=27 | 6 X 7 X 7=294 |
| # samples | 3 | 7 | |
| ** MAII score | log2(3/27*10)=0.15200309344505 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(7/294*10)=-2.0703893278914 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: PDGFA [Title/Abstract] AND OCA2 [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 | PDGFA | GO:0008284 | positive regulation of cell proliferation | 2439522|2836953|7073684|10806482|16462734|17470632 |
| Hgene | PDGFA | GO:0009611 | response to wounding | 2538439 |
| Hgene | PDGFA | GO:0010512 | negative regulation of phosphatidylinositol biosynthetic process | 2538439 |
| Hgene | PDGFA | GO:0010544 | negative regulation of platelet activation | 2538439 |
| Hgene | PDGFA | GO:0014068 | positive regulation of phosphatidylinositol 3-kinase signaling | 11788434 |
| Hgene | PDGFA | GO:0014910 | regulation of smooth muscle cell migration | 9409235 |
| Hgene | PDGFA | GO:0030335 | positive regulation of cell migration | 11788434|17470632 |
| Hgene | PDGFA | GO:0031954 | positive regulation of protein autophosphorylation | 12070119 |
| Hgene | PDGFA | GO:0035793 | positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway | 19019919 |
| Hgene | PDGFA | GO:0043406 | positive regulation of MAP kinase activity | 11788434 |
| Hgene | PDGFA | GO:0048008 | platelet-derived growth factor receptor signaling pathway | 2439522|2536956|2836953 |
| Hgene | PDGFA | GO:0048146 | positive regulation of fibroblast proliferation | 2439522|10806482 |
| Hgene | PDGFA | GO:0050919 | negative chemotaxis | 9409235 |
| Hgene | PDGFA | GO:0051897 | positive regulation of protein kinase B signaling | 19019919 |
| Hgene | PDGFA | GO:0070374 | positive regulation of ERK1 and ERK2 cascade | 11788434 |
| Hgene | PDGFA | GO:0072124 | regulation of glomerular mesangial cell proliferation | 11788434 |
| Hgene | PDGFA | GO:2000278 | regulation of DNA biosynthetic process | 11788434|19019919 |
| 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 | SKCM | TCGA-ER-A197-06A | PDGFA | chr7 | 557031 | - | OCA2 | chr15 | 28277309 | - |
| * 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 |
| Frame-shift | ENST00000402802 | ENST00000353809 | PDGFA | chr7 | 557031 | - | OCA2 | chr15 | 28277309 | - |
| Frame-shift | ENST00000402802 | ENST00000354638 | PDGFA | chr7 | 557031 | - | OCA2 | chr15 | 28277309 | - |
| Frame-shift | ENST00000402802 | ENST00000382996 | PDGFA | chr7 | 557031 | - | OCA2 | chr15 | 28277309 | - |
| Frame-shift | ENST00000354513 | ENST00000353809 | PDGFA | chr7 | 557031 | - | OCA2 | chr15 | 28277309 | - |
| Frame-shift | ENST00000354513 | ENST00000354638 | PDGFA | chr7 | 557031 | - | OCA2 | chr15 | 28277309 | - |
| Frame-shift | ENST00000354513 | ENST00000382996 | PDGFA | chr7 | 557031 | - | OCA2 | chr15 | 28277309 | - |
| 5UTR-3CDS | ENST00000426681 | ENST00000353809 | PDGFA | chr7 | 557031 | - | OCA2 | chr15 | 28277309 | - |
| 5UTR-3CDS | ENST00000426681 | ENST00000354638 | PDGFA | chr7 | 557031 | - | OCA2 | chr15 | 28277309 | - |
| 5UTR-3CDS | ENST00000426681 | ENST00000382996 | PDGFA | chr7 | 557031 | - | OCA2 | chr15 | 28277309 | - |
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FusionProtFeatures for PDGFA_OCA2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| PDGFA | OCA2 |
| Growth factor that plays an essential role in theregulation of embryonic development, cell proliferation, cellmigration, survival and chemotaxis. Potent mitogen for cells ofmesenchymal origin. Required for normal lung alveolar septumformation during embryogenesis, normal development of thegastrointestinal tract, normal development of Leydig cells andspermatogenesis. Required for normal oligodendrocyte developmentand normal myelination in the spinal cord and cerebellum. Plays animportant role in wound healing. Signaling is modulated by theformation of heterodimers with PDGFB (By similarity).{ECO:0000250}. | Could be involved in the transport of tyrosine, theprecursor to melanin synthesis, within the melanocyte. Regulatesthe pH of melanosome and the melanosome maturation. One of thecomponents of the mammalian pigmentary system. Seems to regulatethe post-translational processing of tyrosinase, which catalyzesthe limiting reaction in melanin synthesis. May serve as a keycontrol point at which ethnic skin color variation is determined.Major determinant of brown and/or blue eye color.{ECO:0000269|PubMed:11310796, ECO:0000269|PubMed:15262401,ECO:0000269|PubMed:18252222, ECO:0000269|PubMed:22234890,ECO:0000269|PubMed:7601462}. |
| 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 PDGFA_OCA2 |
| 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 PDGFA_OCA2 |
| 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 |
| PDGFA | PDGFRA, PLCG1, PDAP1, HSPG2, COL1A1, COL1A2, COL2A1, COL3A1, COL4A1, COL5A1, COL6A1 | OCA2 | ATP13A2, HTR3A, CHRND |
| - 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 PDGFA_OCA2 |
| 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 PDGFA_OCA2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | PDGFA | C0024667 | Animal Mammary Neoplasms | 2 | CTD_human |
| Hgene | PDGFA | C0024668 | Mammary Neoplasms, Experimental | 2 | CTD_human |
| Hgene | PDGFA | C0005942 | Bone Diseases, Endocrine | 1 | CTD_human |
| Hgene | PDGFA | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| Hgene | PDGFA | C0024115 | Lung diseases | 1 | CTD_human |
| Hgene | PDGFA | C0025500 | Mesothelioma | 1 | CTD_human |
| Hgene | PDGFA | C0034069 | Pulmonary Fibrosis | 1 | CTD_human |
| Hgene | PDGFA | C0040028 | Thrombocythemia, Essential | 1 | CTD_human |
| Hgene | PDGFA | C0040136 | Thyroid Neoplasm | 1 | CTD_human |
| Hgene | PDGFA | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| Hgene | PDGFA | C1862939 | AMYOTROPHIC LATERAL SCLEROSIS 1 | 1 | CTD_human |
| Tgene | OCA2 | C0268495 | Oculocutaneous albinism type 2 | 8 | CTD_human;ORPHANET;UNIPROT |
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