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![]() | Fusion Gene Summary |
![]() | Fusion Gene ORF analysis |
![]() | Fusion Genomic Features |
![]() | Fusion Protein Features |
![]() | Fusion Gene Sequence |
![]() | Fusion Gene PPI analysis |
![]() | Related Drugs |
![]() | Related Diseases |
Fusion gene:CCDC6-PDGFRB (FusionGDB2 ID:HG8030TG5159) |
Fusion Gene Summary for CCDC6-PDGFRB |
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Fusion gene information | Fusion gene name: CCDC6-PDGFRB | Fusion gene ID: hg8030tg5159 | Hgene | Tgene | Gene symbol | CCDC6 | PDGFRB | Gene ID | 8030 | 5159 |
Gene name | coiled-coil domain containing 6 | platelet derived growth factor receptor beta | |
Synonyms | D10S170|H4|PTC|TPC|TST1 | CD140B|IBGC4|IMF1|JTK12|KOGS|PDGFR|PDGFR-1|PDGFR1|PENTT | |
Cytomap | ('CCDC6')('PDGFRB') 10q21.2 | 5q32 | |
Type of gene | protein-coding | protein-coding | |
Description | coiled-coil domain-containing protein 6papillary thyroid carcinoma-encoded protein | platelet-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 date | 20200327 | 20200329 | |
UniProtAcc | Q16204 | P09619 | |
Ensembl transtripts involved in fusion gene | ENST00000263102, | ||
Fusion gene scores | * DoF score | 15 X 22 X 10=3300 | 28 X 26 X 6=4368 |
# samples | 38 | 15 | |
** MAII score | log2(38/3300*10)=-3.11839470080223 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: CCDC6 [Title/Abstract] AND PDGFRB [Title/Abstract] AND fusion [Title/Abstract] | ||
Most frequent breakpoint | CCDC6(61564178)-PDGFRB(149506178), # samples:1 | ||
Anticipated loss of major functional domain due to fusion event. | CCDC6-PDGFRB seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CCDC6-PDGFRB seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. CCDC6-PDGFRB seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. CCDC6-PDGFRB seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. |
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types ** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Tgene | PDGFRB | GO:0007165 | signal transduction | 10821867 |
Tgene | PDGFRB | GO:0010863 | positive regulation of phospholipase C activity | 1653029 |
Tgene | PDGFRB | GO:0018108 | peptidyl-tyrosine phosphorylation | 1653029|2536956|2850496 |
Tgene | PDGFRB | GO:0030335 | positive regulation of cell migration | 17470632 |
Tgene | PDGFRB | GO:0032516 | positive regulation of phosphoprotein phosphatase activity | 7691811 |
Tgene | PDGFRB | GO:0038091 | positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway | 17470632 |
Tgene | PDGFRB | GO:0043552 | positive regulation of phosphatidylinositol 3-kinase activity | 1314164 |
Tgene | PDGFRB | GO:0046777 | protein autophosphorylation | 1314164|2536956|2850496 |
Tgene | PDGFRB | GO:0048008 | platelet-derived growth factor receptor signaling pathway | 1314164|2536956 |
Tgene | PDGFRB | GO:0060326 | cell chemotaxis | 2554309|17991872 |
![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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![]() * 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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerKB3 | . | . | CCDC6 | chr10 | 61564177 | - | PDGFRB | chr5 | 149506177 | - |
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Fusion Gene ORF analysis for CCDC6-PDGFRB |
![]() * 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 | ENST00000263102 | ENST00000523456 | CCDC6 | chr10 | 61564177 | - | PDGFRB | chr5 | 149506177 | - |
In-frame | ENST00000263102 | ENST00000261799 | CCDC6 | chr10 | 61564177 | - | PDGFRB | chr5 | 149506177 | - |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000263102 | CCDC6 | chr10 | 61564177 | - | ENST00000261799 | PDGFRB | chr5 | 149506177 | - | 5005 | 1337 | 109 | 3078 | 989 |
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Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000263102 | ENST00000261799 | CCDC6 | chr10 | 61564178 | - | PDGFRB | chr5 | 149506178 | - | 0.004267533 | 0.9957325 |
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Fusion Genomic Features for CCDC6-PDGFRB |
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Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
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Fusion Protein Features for CCDC6-PDGFRB |
![]() Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr10:61564178/chr5:149506178) - 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. |
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Hgene | Tgene |
CCDC6 | PDGFRB |
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}. |
![]() * 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 |
Hgene | CCDC6 | chr10:61564178 | chr5:149506178 | ENST00000263102 | - | 7 | 9 | 253_332 | 368 | 475.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | CCDC6 | chr10:61564178 | chr5:149506178 | ENST00000263102 | - | 7 | 9 | 53_237 | 368 | 475.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | CCDC6 | chr10:61564178 | chr5:149506178 | ENST00000263102 | - | 7 | 9 | 17_20 | 368 | 475.0 | Compositional bias | Note=Poly-Ser |
Hgene | CCDC6 | chr10:61564178 | chr5:149506178 | ENST00000263102 | - | 7 | 9 | 32_44 | 368 | 475.0 | Compositional bias | Note=Poly-Gly |
Hgene | CCDC6 | chr10:61564178 | chr5:149506178 | ENST00000263102 | - | 7 | 9 | 106_235 | 368 | 475.0 | Region | Note=5 X 29 AA tandem repeats |
Hgene | CCDC6 | chr10:61564178 | chr5:149506178 | ENST00000263102 | - | 7 | 9 | 106_134 | 368 | 475.0 | Repeat | Note=1 |
Hgene | CCDC6 | chr10:61564178 | chr5:149506178 | ENST00000263102 | - | 7 | 9 | 135_163 | 368 | 475.0 | Repeat | Note=2 |
Hgene | CCDC6 | chr10:61564178 | chr5:149506178 | ENST00000263102 | - | 7 | 9 | 164_192 | 368 | 475.0 | Repeat | Note=3 |
Hgene | CCDC6 | chr10:61564178 | chr5:149506178 | ENST00000263102 | - | 7 | 9 | 193_206 | 368 | 475.0 | Repeat | Note=4%3B approximate |
Hgene | CCDC6 | chr10:61564178 | chr5:149506178 | ENST00000263102 | - | 7 | 9 | 207_235 | 368 | 475.0 | Repeat | Note=5 |
Tgene | PDGFRB | chr10:61564178 | chr5:149506178 | ENST00000261799 | 9 | 23 | 600_962 | 526 | 1107.0 | Domain | Protein kinase | |
Tgene | PDGFRB | chr10:61564178 | chr5:149506178 | ENST00000261799 | 9 | 23 | 606_614 | 526 | 1107.0 | Nucleotide binding | ATP | |
Tgene | PDGFRB | chr10:61564178 | chr5:149506178 | ENST00000261799 | 9 | 23 | 554_1106 | 526 | 1107.0 | Topological domain | Cytoplasmic | |
Tgene | PDGFRB | chr10:61564178 | chr5:149506178 | ENST00000261799 | 9 | 23 | 533_553 | 526 | 1107.0 | Transmembrane | Helical |
- 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 |
Hgene | CCDC6 | chr10:61564178 | chr5:149506178 | ENST00000263102 | - | 7 | 9 | 440_448 | 368 | 475.0 | Compositional bias | Note=Poly-Pro |
Hgene | CCDC6 | chr10:61564178 | chr5:149506178 | ENST00000263102 | - | 7 | 9 | 442_451 | 368 | 475.0 | Motif | SH3-binding |
Tgene | PDGFRB | chr10:61564178 | chr5:149506178 | ENST00000261799 | 9 | 23 | 129_210 | 526 | 1107.0 | Domain | Note=Ig-like C2-type 2 | |
Tgene | PDGFRB | chr10:61564178 | chr5:149506178 | ENST00000261799 | 9 | 23 | 214_309 | 526 | 1107.0 | Domain | Note=Ig-like C2-type 3 | |
Tgene | PDGFRB | chr10:61564178 | chr5:149506178 | ENST00000261799 | 9 | 23 | 331_403 | 526 | 1107.0 | Domain | Note=Ig-like C2-type 4 | |
Tgene | PDGFRB | chr10:61564178 | chr5:149506178 | ENST00000261799 | 9 | 23 | 33_120 | 526 | 1107.0 | Domain | Note=Ig-like C2-type 1 | |
Tgene | PDGFRB | chr10:61564178 | chr5:149506178 | ENST00000261799 | 9 | 23 | 416_524 | 526 | 1107.0 | Domain | Note=Ig-like C2-type 5 | |
Tgene | PDGFRB | chr10:61564178 | chr5:149506178 | ENST00000261799 | 9 | 23 | 33_532 | 526 | 1107.0 | Topological domain | Extracellular |
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Fusion Gene Sequence for CCDC6-PDGFRB |
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>13894_13894_1_CCDC6-PDGFRB_CCDC6_chr10_61564177_ENST00000263102_PDGFRB_chr5_149506177_ENST00000261799_length(transcript)=5005nt_BP=1337nt AGTGCAATACTGCCCAAGCCCGGGCGGGGTCTCTGTTCTCTGGCAGAGGAGGTCCCTTGGCAGCGGGAAGCGCCCTCTCTTTCTCTCGCC GCCGCTCCGAGTCTGCGCCCTGGTGCCAGGCGCTCAGCTCGGCGCTCCCCTGTGCTCGCCCGGCGCCCACTCATTCGCAGCCCGGCCTTC GTCGCCGCCGCCTCCCTGCTGCTCCTCCTCCTTTCCCCAGCCCGCCGCGGCCATGGCGGACAGCGCCAGCGAGAGCGACACGGACGGGGC GGGGGGCAACAGCAGCAGCTCGGCCGCCATGCAGTCGTCCTGCTCGTCGACCTCGGGCGGCGGCGGTGGCGGCGGGGGAGGCGGCGGCGG TGGGAAGTCGGGGGGCATTGTCATCTCGCCGTTCCGCCTGGAGGAGCTCACCAACCGCCTGGCCTCGCTGCAGCAAGAGAACAAGGTGCT GAAGATAGAGCTGGAGACCTACAAACTGAAGTGCAAGGCACTGCAGGAGGAGAACCGCGACCTGCGCAAAGCCAGCGTGACCATCCAAGC CAGGGCTGAGCAGGAAGAAGAATTCATTAGTAACACTTTATTCAAGAAAATTCAGGCTTTGCAGAAGGAGAAAGAAACCCTTGCTGTAAA TTATGAGAAAGAAGAAGAATTCCTCACTAATGAGCTCTCCAGAAAATTGATGCAGTTGCAGCATGAGAAAGCCGAACTAGAACAGCATCT TGAACAAGAGCAGGAATTTCAGGTCAACAAACTGATGAAGAAAATTAAAAAACTGGAGAATGACACCATTTCTAAGCAACTTACATTAGA ACAGTTGAGACGGGAGAAGATTGACCTTGAAAATACATTGGAACAAGAACAAGAAGCACTAGTTAATCGCCTCTGGAAAAGGATGGATAA GCTTGAAGCTGAAAAGCGAATCCTGCAGGAAAAATTAGACCAGCCCGTCTCTGCTCCACCATCGCCTAGAGATATCTCCATGGAGATTGA TTCTCCAGAAAATATGATGCGTCACATCAGGTTTTTAAAGAATGAAGTGGAACGGCTGAAGAAGCAACTGAGAGCTGCTCAGTTACAGCA TTCAGAGAAAATGGCACAGTATCTGGAGGAGGAACGTCACATGAGAGAAGAGAACTTGAGGCTCCAGAGGAAGCTGCAGAGGGAGATGGA GAGAAGAGAAGCCCTCTGTCGACAGCTCTCCGAGAGTGAGTCCAGCTTAGAAATGGACGACGAAAGGTATTTTAATGAGATGTCTGCACA AGGATTAAGACCTCGCACTGTGTCCAGCCCGATCCCTTACACACCTTCTCCGAGTTCAAGCAGGCCTATATCACCTGCCTTGCCCTTTAA GGTGGTGGTGATCTCAGCCATCCTGGCCCTGGTGGTGCTCACCATCATCTCCCTTATCATCCTCATCATGCTTTGGCAGAAGAAGCCACG TTACGAGATCCGATGGAAGGTGATTGAGTCTGTGAGCTCTGACGGCCATGAGTACATCTACGTGGACCCCATGCAGCTGCCCTATGACTC CACGTGGGAGCTGCCGCGGGACCAGCTTGTGCTGGGACGCACCCTCGGCTCTGGGGCCTTTGGGCAGGTGGTGGAGGCCACGGCTCATGG CCTGAGCCATTCTCAGGCCACGATGAAAGTGGCCGTCAAGATGCTTAAATCCACAGCCCGCAGCAGTGAGAAGCAAGCCCTTATGTCGGA GCTGAAGATCATGAGTCACCTTGGGCCCCACCTGAACGTGGTCAACCTGTTGGGGGCCTGCACCAAAGGAGGACCCATCTATATCATCAC TGAGTACTGCCGCTACGGAGACCTGGTGGACTACCTGCACCGCAACAAACACACCTTCCTGCAGCACCACTCCGACAAGCGCCGCCCGCC CAGCGCGGAGCTCTACAGCAATGCTCTGCCCGTTGGGCTCCCCCTGCCCAGCCATGTGTCCTTGACCGGGGAGAGCGACGGTGGCTACAT GGACATGAGCAAGGACGAGTCGGTGGACTATGTGCCCATGCTGGACATGAAAGGAGACGTCAAATATGCAGACATCGAGTCCTCCAACTA CATGGCCCCTTACGATAACTACGTTCCCTCTGCCCCTGAGAGGACCTGCCGAGCAACTTTGATCAACGAGTCTCCAGTGCTAAGCTACAT GGACCTCGTGGGCTTCAGCTACCAGGTGGCCAATGGCATGGAGTTTCTGGCCTCCAAGAACTGCGTCCACAGAGACCTGGCGGCTAGGAA CGTGCTCATCTGTGAAGGCAAGCTGGTCAAGATCTGTGACTTTGGCCTGGCTCGAGACATCATGCGGGACTCGAATTACATCTCCAAAGG CAGCACCTTTTTGCCTTTAAAGTGGATGGCTCCGGAGAGCATCTTCAACAGCCTCTACACCACCCTGAGCGACGTGTGGTCCTTCGGGAT CCTGCTCTGGGAGATCTTCACCTTGGGTGGCACCCCTTACCCAGAGCTGCCCATGAACGAGCAGTTCTACAATGCCATCAAACGGGGTTA CCGCATGGCCCAGCCTGCCCATGCCTCCGACGAGATCTATGAGATCATGCAGAAGTGCTGGGAAGAGAAGTTTGAGATTCGGCCCCCCTT CTCCCAGCTGGTGCTGCTTCTCGAGAGACTGTTGGGCGAAGGTTACAAAAAGAAGTACCAGCAGGTGGATGAGGAGTTTCTGAGGAGTGA CCACCCAGCCATCCTTCGGTCCCAGGCCCGCTTGCCTGGGTTCCATGGCCTCCGATCTCCCCTGGACACCAGCTCCGTCCTCTATACTGC CGTGCAGCCCAATGAGGGTGACAACGACTATATCATCCCCCTGCCTGACCCCAAACCCGAGGTTGCTGACGAGGGCCCACTGGAGGGTTC CCCCAGCCTAGCCAGCTCCACCCTGAATGAAGTCAACACCTCCTCAACCATCTCCTGTGACAGCCCCCTGGAGCCCCAGGACGAACCAGA GCCAGAGCCCCAGCTTGAGCTCCAGGTGGAGCCGGAGCCAGAGCTGGAACAGTTGCCGGATTCGGGGTGCCCTGCGCCTCGGGCGGAAGC AGAGGATAGCTTCCTGTAGGGGGCTGGCCCCTACCCTGCCCTGCCTGAAGCTCCCCCCCTGCCAGCACCCAGCATCTCCTGGCCTGGCCT GACCGGGCTTCCTGTCAGCCAGGCTGCCCTTATCAGCTGTCCCCTTCTGGAAGCTTTCTGCTCCTGACGTGTTGTGCCCCAAACCCTGGG GCTGGCTTAGGAGGCAAGAAAACTGCAGGGGCCGTGACCAGCCCTCTGCCTCCAGGGAGGCCAACTGACTCTGAGCCAGGGTTCCCCCAG GGAACTCAGTTTTCCCATATGTAAAATGGGAAAGTTAGGCTTGATGACCCAGAATCTAGGATTCTCTCCCTGGCTGACAGGTGGGGAGAC CGAATCCCTCCCTGGGAAGATTCTTGGAGTTACTGAGGTGGTAAATTAACTTTTTTCTGTTCAGCCAGCTACCCCTCAAGGAATCATAGC TCTCTCCTCGCACTTTTATCCACCCAGGAGCTAGGGAAGAGACCCTAGCCTCCCTGGCTGCTGGCTGAGCTAGGGCCTAGCCTTGAGCAG TGTTGCCTCATCCAGAAGAAAGCCAGTCTCCTCCCTATGATGCCAGTCCCTGCGTTCCCTGGCCCGAGCTGGTCTGGGGCCATTAGGCAG CCTAATTAATGCTGGAGGCTGAGCCAAGTACAGGACACCCCCAGCCTGCAGCCCTTGCCCAGGGCACTTGGAGCACACGCAGCCATAGCA AGTGCCTGTGTCCCTGTCCTTCAGGCCCATCAGTCCTGGGGCTTTTTCTTTATCACCCTCAGTCTTAATCCATCCACCAGAGTCTAGAAG GCCAGACGGGCCCCGCATCTGTGATGAGAATGTAAATGTGCCAGTGTGGAGTGGCCACGTGTGTGTGCCAGTATATGGCCCTGGCTCTGC ATTGGACCTGCTATGAGGCTTTGGAGGAATCCCTCACCCTCTCTGGGCCTCAGTTTCCCCTTCAAAAAATGAATAAGTCGGACTTATTAA CTCTGAGTGCCTTGCCAGCACTAACATTCTAGAGTATTCCAGGTGGTTGCACATTTGTCCAGATGAAGCAAGGCCATATACCCTAAACTT CCATCCTGGGGGTCAGCTGGGCTCCTGGGAGATTCCAGATCACACATCACACTCTGGGGACTCAGGAACCATGCCCCTTCCCCAGGCCCC CAGCAAGTCTCAAGAACACAGCTGCACAGGCCTTGACTTAGAGTGACAGCCGGTGTCCTGGAAAGCCCCCAGCAGCTGCCCCAGGGACAT GGGAAGACCACGGGACCTCTTTCACTACCCACGATGACCTCCGGGGGTATCCTGGGCAAAAGGGACAAAGAGGGCAAATGAGATCACCTC CTGCAGCCCACCACTCCAGCACCTGTGCCGAGGTCTGCGTCGAAGACAGAATGGACAGTGAGGACAGTTATGTCTTGTAAAAGACAAGAA GCTTCAGATGGGTACCCCAAGAAGGATGTGAGAGGTGGGCGCTTTGGAGGTTTGCCCCTCACCCACCAGCTGCCCCATCCCTGAGGCAGC GCTCCATGGGGGTATGGTTTTGTCACTGCCCAGACCTAGCAGTGACATCTCATTGTCCCCAGCCCAGTGGGCATTGGAGGTGCCAGGGGA GTCAGGGTTGTAGCCAAGACGCCCCCGCACGGGGAGGGTTGGGAAGGGGGTGCAGGAAGCTCAACCCCTCTGGGCACCAACCCTGCATTG CAGGTTGGCACCTTACTTCCCTGGGATCCCCAGAGTTGGTCCAAGGAGGGAGAGTGGGTTCTCAATACGGTACCAAAGATATAATCACCT AGGTTTACAAATATTTTTAGGACTCACGTTAACTCACATTTATACAGCAGAAATGCTATTTTGTATGCTGTTGAGTTTTTCTATCTGTGT >13894_13894_1_CCDC6-PDGFRB_CCDC6_chr10_61564177_ENST00000263102_PDGFRB_chr5_149506177_ENST00000261799_length(amino acids)=989AA_BP=56 MVPGAQLGAPLCSPGAHSFAARPSSPPPPCCSSSFPQPAAAMADSASESDTDGAGGNSSSSAAMQSSCSSTSGGGGGGGGGGGGGKSGGI VISPFRLEELTNRLASLQQENKVLKIELETYKLKCKALQEENRDLRKASVTIQARAEQEEEFISNTLFKKIQALQKEKETLAVNYEKEEE FLTNELSRKLMQLQHEKAELEQHLEQEQEFQVNKLMKKIKKLENDTISKQLTLEQLRREKIDLENTLEQEQEALVNRLWKRMDKLEAEKR ILQEKLDQPVSAPPSPRDISMEIDSPENMMRHIRFLKNEVERLKKQLRAAQLQHSEKMAQYLEEERHMREENLRLQRKLQREMERREALC RQLSESESSLEMDDERYFNEMSAQGLRPRTVSSPIPYTPSPSSSRPISPALPFKVVVISAILALVVLTIISLIILIMLWQKKPRYEIRWK VIESVSSDGHEYIYVDPMQLPYDSTWELPRDQLVLGRTLGSGAFGQVVEATAHGLSHSQATMKVAVKMLKSTARSSEKQALMSELKIMSH LGPHLNVVNLLGACTKGGPIYIITEYCRYGDLVDYLHRNKHTFLQHHSDKRRPPSAELYSNALPVGLPLPSHVSLTGESDGGYMDMSKDE SVDYVPMLDMKGDVKYADIESSNYMAPYDNYVPSAPERTCRATLINESPVLSYMDLVGFSYQVANGMEFLASKNCVHRDLAARNVLICEG KLVKICDFGLARDIMRDSNYISKGSTFLPLKWMAPESIFNSLYTTLSDVWSFGILLWEIFTLGGTPYPELPMNEQFYNAIKRGYRMAQPA HASDEIYEIMQKCWEEKFEIRPPFSQLVLLLERLLGEGYKKKYQQVDEEFLRSDHPAILRSQARLPGFHGLRSPLDTSSVLYTAVQPNEG -------------------------------------------------------------- >13894_13894_2_CCDC6-PDGFRB_CCDC6_chr10_61564178_ENST00000263102_PDGFRB_chr5_149506178_ENST00000261799_length(transcript)=5005nt_BP=1337nt AGTGCAATACTGCCCAAGCCCGGGCGGGGTCTCTGTTCTCTGGCAGAGGAGGTCCCTTGGCAGCGGGAAGCGCCCTCTCTTTCTCTCGCC GCCGCTCCGAGTCTGCGCCCTGGTGCCAGGCGCTCAGCTCGGCGCTCCCCTGTGCTCGCCCGGCGCCCACTCATTCGCAGCCCGGCCTTC GTCGCCGCCGCCTCCCTGCTGCTCCTCCTCCTTTCCCCAGCCCGCCGCGGCCATGGCGGACAGCGCCAGCGAGAGCGACACGGACGGGGC GGGGGGCAACAGCAGCAGCTCGGCCGCCATGCAGTCGTCCTGCTCGTCGACCTCGGGCGGCGGCGGTGGCGGCGGGGGAGGCGGCGGCGG TGGGAAGTCGGGGGGCATTGTCATCTCGCCGTTCCGCCTGGAGGAGCTCACCAACCGCCTGGCCTCGCTGCAGCAAGAGAACAAGGTGCT GAAGATAGAGCTGGAGACCTACAAACTGAAGTGCAAGGCACTGCAGGAGGAGAACCGCGACCTGCGCAAAGCCAGCGTGACCATCCAAGC CAGGGCTGAGCAGGAAGAAGAATTCATTAGTAACACTTTATTCAAGAAAATTCAGGCTTTGCAGAAGGAGAAAGAAACCCTTGCTGTAAA TTATGAGAAAGAAGAAGAATTCCTCACTAATGAGCTCTCCAGAAAATTGATGCAGTTGCAGCATGAGAAAGCCGAACTAGAACAGCATCT TGAACAAGAGCAGGAATTTCAGGTCAACAAACTGATGAAGAAAATTAAAAAACTGGAGAATGACACCATTTCTAAGCAACTTACATTAGA ACAGTTGAGACGGGAGAAGATTGACCTTGAAAATACATTGGAACAAGAACAAGAAGCACTAGTTAATCGCCTCTGGAAAAGGATGGATAA GCTTGAAGCTGAAAAGCGAATCCTGCAGGAAAAATTAGACCAGCCCGTCTCTGCTCCACCATCGCCTAGAGATATCTCCATGGAGATTGA TTCTCCAGAAAATATGATGCGTCACATCAGGTTTTTAAAGAATGAAGTGGAACGGCTGAAGAAGCAACTGAGAGCTGCTCAGTTACAGCA TTCAGAGAAAATGGCACAGTATCTGGAGGAGGAACGTCACATGAGAGAAGAGAACTTGAGGCTCCAGAGGAAGCTGCAGAGGGAGATGGA GAGAAGAGAAGCCCTCTGTCGACAGCTCTCCGAGAGTGAGTCCAGCTTAGAAATGGACGACGAAAGGTATTTTAATGAGATGTCTGCACA AGGATTAAGACCTCGCACTGTGTCCAGCCCGATCCCTTACACACCTTCTCCGAGTTCAAGCAGGCCTATATCACCTGCCTTGCCCTTTAA GGTGGTGGTGATCTCAGCCATCCTGGCCCTGGTGGTGCTCACCATCATCTCCCTTATCATCCTCATCATGCTTTGGCAGAAGAAGCCACG TTACGAGATCCGATGGAAGGTGATTGAGTCTGTGAGCTCTGACGGCCATGAGTACATCTACGTGGACCCCATGCAGCTGCCCTATGACTC CACGTGGGAGCTGCCGCGGGACCAGCTTGTGCTGGGACGCACCCTCGGCTCTGGGGCCTTTGGGCAGGTGGTGGAGGCCACGGCTCATGG CCTGAGCCATTCTCAGGCCACGATGAAAGTGGCCGTCAAGATGCTTAAATCCACAGCCCGCAGCAGTGAGAAGCAAGCCCTTATGTCGGA GCTGAAGATCATGAGTCACCTTGGGCCCCACCTGAACGTGGTCAACCTGTTGGGGGCCTGCACCAAAGGAGGACCCATCTATATCATCAC TGAGTACTGCCGCTACGGAGACCTGGTGGACTACCTGCACCGCAACAAACACACCTTCCTGCAGCACCACTCCGACAAGCGCCGCCCGCC CAGCGCGGAGCTCTACAGCAATGCTCTGCCCGTTGGGCTCCCCCTGCCCAGCCATGTGTCCTTGACCGGGGAGAGCGACGGTGGCTACAT GGACATGAGCAAGGACGAGTCGGTGGACTATGTGCCCATGCTGGACATGAAAGGAGACGTCAAATATGCAGACATCGAGTCCTCCAACTA CATGGCCCCTTACGATAACTACGTTCCCTCTGCCCCTGAGAGGACCTGCCGAGCAACTTTGATCAACGAGTCTCCAGTGCTAAGCTACAT GGACCTCGTGGGCTTCAGCTACCAGGTGGCCAATGGCATGGAGTTTCTGGCCTCCAAGAACTGCGTCCACAGAGACCTGGCGGCTAGGAA CGTGCTCATCTGTGAAGGCAAGCTGGTCAAGATCTGTGACTTTGGCCTGGCTCGAGACATCATGCGGGACTCGAATTACATCTCCAAAGG CAGCACCTTTTTGCCTTTAAAGTGGATGGCTCCGGAGAGCATCTTCAACAGCCTCTACACCACCCTGAGCGACGTGTGGTCCTTCGGGAT CCTGCTCTGGGAGATCTTCACCTTGGGTGGCACCCCTTACCCAGAGCTGCCCATGAACGAGCAGTTCTACAATGCCATCAAACGGGGTTA CCGCATGGCCCAGCCTGCCCATGCCTCCGACGAGATCTATGAGATCATGCAGAAGTGCTGGGAAGAGAAGTTTGAGATTCGGCCCCCCTT CTCCCAGCTGGTGCTGCTTCTCGAGAGACTGTTGGGCGAAGGTTACAAAAAGAAGTACCAGCAGGTGGATGAGGAGTTTCTGAGGAGTGA CCACCCAGCCATCCTTCGGTCCCAGGCCCGCTTGCCTGGGTTCCATGGCCTCCGATCTCCCCTGGACACCAGCTCCGTCCTCTATACTGC CGTGCAGCCCAATGAGGGTGACAACGACTATATCATCCCCCTGCCTGACCCCAAACCCGAGGTTGCTGACGAGGGCCCACTGGAGGGTTC CCCCAGCCTAGCCAGCTCCACCCTGAATGAAGTCAACACCTCCTCAACCATCTCCTGTGACAGCCCCCTGGAGCCCCAGGACGAACCAGA GCCAGAGCCCCAGCTTGAGCTCCAGGTGGAGCCGGAGCCAGAGCTGGAACAGTTGCCGGATTCGGGGTGCCCTGCGCCTCGGGCGGAAGC AGAGGATAGCTTCCTGTAGGGGGCTGGCCCCTACCCTGCCCTGCCTGAAGCTCCCCCCCTGCCAGCACCCAGCATCTCCTGGCCTGGCCT GACCGGGCTTCCTGTCAGCCAGGCTGCCCTTATCAGCTGTCCCCTTCTGGAAGCTTTCTGCTCCTGACGTGTTGTGCCCCAAACCCTGGG GCTGGCTTAGGAGGCAAGAAAACTGCAGGGGCCGTGACCAGCCCTCTGCCTCCAGGGAGGCCAACTGACTCTGAGCCAGGGTTCCCCCAG GGAACTCAGTTTTCCCATATGTAAAATGGGAAAGTTAGGCTTGATGACCCAGAATCTAGGATTCTCTCCCTGGCTGACAGGTGGGGAGAC CGAATCCCTCCCTGGGAAGATTCTTGGAGTTACTGAGGTGGTAAATTAACTTTTTTCTGTTCAGCCAGCTACCCCTCAAGGAATCATAGC TCTCTCCTCGCACTTTTATCCACCCAGGAGCTAGGGAAGAGACCCTAGCCTCCCTGGCTGCTGGCTGAGCTAGGGCCTAGCCTTGAGCAG TGTTGCCTCATCCAGAAGAAAGCCAGTCTCCTCCCTATGATGCCAGTCCCTGCGTTCCCTGGCCCGAGCTGGTCTGGGGCCATTAGGCAG CCTAATTAATGCTGGAGGCTGAGCCAAGTACAGGACACCCCCAGCCTGCAGCCCTTGCCCAGGGCACTTGGAGCACACGCAGCCATAGCA AGTGCCTGTGTCCCTGTCCTTCAGGCCCATCAGTCCTGGGGCTTTTTCTTTATCACCCTCAGTCTTAATCCATCCACCAGAGTCTAGAAG GCCAGACGGGCCCCGCATCTGTGATGAGAATGTAAATGTGCCAGTGTGGAGTGGCCACGTGTGTGTGCCAGTATATGGCCCTGGCTCTGC ATTGGACCTGCTATGAGGCTTTGGAGGAATCCCTCACCCTCTCTGGGCCTCAGTTTCCCCTTCAAAAAATGAATAAGTCGGACTTATTAA CTCTGAGTGCCTTGCCAGCACTAACATTCTAGAGTATTCCAGGTGGTTGCACATTTGTCCAGATGAAGCAAGGCCATATACCCTAAACTT CCATCCTGGGGGTCAGCTGGGCTCCTGGGAGATTCCAGATCACACATCACACTCTGGGGACTCAGGAACCATGCCCCTTCCCCAGGCCCC CAGCAAGTCTCAAGAACACAGCTGCACAGGCCTTGACTTAGAGTGACAGCCGGTGTCCTGGAAAGCCCCCAGCAGCTGCCCCAGGGACAT GGGAAGACCACGGGACCTCTTTCACTACCCACGATGACCTCCGGGGGTATCCTGGGCAAAAGGGACAAAGAGGGCAAATGAGATCACCTC CTGCAGCCCACCACTCCAGCACCTGTGCCGAGGTCTGCGTCGAAGACAGAATGGACAGTGAGGACAGTTATGTCTTGTAAAAGACAAGAA GCTTCAGATGGGTACCCCAAGAAGGATGTGAGAGGTGGGCGCTTTGGAGGTTTGCCCCTCACCCACCAGCTGCCCCATCCCTGAGGCAGC GCTCCATGGGGGTATGGTTTTGTCACTGCCCAGACCTAGCAGTGACATCTCATTGTCCCCAGCCCAGTGGGCATTGGAGGTGCCAGGGGA GTCAGGGTTGTAGCCAAGACGCCCCCGCACGGGGAGGGTTGGGAAGGGGGTGCAGGAAGCTCAACCCCTCTGGGCACCAACCCTGCATTG CAGGTTGGCACCTTACTTCCCTGGGATCCCCAGAGTTGGTCCAAGGAGGGAGAGTGGGTTCTCAATACGGTACCAAAGATATAATCACCT AGGTTTACAAATATTTTTAGGACTCACGTTAACTCACATTTATACAGCAGAAATGCTATTTTGTATGCTGTTGAGTTTTTCTATCTGTGT >13894_13894_2_CCDC6-PDGFRB_CCDC6_chr10_61564178_ENST00000263102_PDGFRB_chr5_149506178_ENST00000261799_length(amino acids)=989AA_BP=56 MVPGAQLGAPLCSPGAHSFAARPSSPPPPCCSSSFPQPAAAMADSASESDTDGAGGNSSSSAAMQSSCSSTSGGGGGGGGGGGGGKSGGI VISPFRLEELTNRLASLQQENKVLKIELETYKLKCKALQEENRDLRKASVTIQARAEQEEEFISNTLFKKIQALQKEKETLAVNYEKEEE FLTNELSRKLMQLQHEKAELEQHLEQEQEFQVNKLMKKIKKLENDTISKQLTLEQLRREKIDLENTLEQEQEALVNRLWKRMDKLEAEKR ILQEKLDQPVSAPPSPRDISMEIDSPENMMRHIRFLKNEVERLKKQLRAAQLQHSEKMAQYLEEERHMREENLRLQRKLQREMERREALC RQLSESESSLEMDDERYFNEMSAQGLRPRTVSSPIPYTPSPSSSRPISPALPFKVVVISAILALVVLTIISLIILIMLWQKKPRYEIRWK VIESVSSDGHEYIYVDPMQLPYDSTWELPRDQLVLGRTLGSGAFGQVVEATAHGLSHSQATMKVAVKMLKSTARSSEKQALMSELKIMSH LGPHLNVVNLLGACTKGGPIYIITEYCRYGDLVDYLHRNKHTFLQHHSDKRRPPSAELYSNALPVGLPLPSHVSLTGESDGGYMDMSKDE SVDYVPMLDMKGDVKYADIESSNYMAPYDNYVPSAPERTCRATLINESPVLSYMDLVGFSYQVANGMEFLASKNCVHRDLAARNVLICEG KLVKICDFGLARDIMRDSNYISKGSTFLPLKWMAPESIFNSLYTTLSDVWSFGILLWEIFTLGGTPYPELPMNEQFYNAIKRGYRMAQPA HASDEIYEIMQKCWEEKFEIRPPFSQLVLLLERLLGEGYKKKYQQVDEEFLRSDHPAILRSQARLPGFHGLRSPLDTSSVLYTAVQPNEG -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for CCDC6-PDGFRB |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for CCDC6-PDGFRB |
![]() (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Tgene | PDGFRB | P09619 | DB00619 | Imatinib | Antagonist | Small molecule | Approved |
Tgene | PDGFRB | P09619 | DB00619 | Imatinib | Antagonist | Small molecule | Approved |
Tgene | PDGFRB | P09619 | DB00619 | Imatinib | Antagonist | Small molecule | Approved |
Tgene | PDGFRB | P09619 | DB06589 | Pazopanib | Inhibitor | Small molecule | Approved |
Tgene | PDGFRB | P09619 | DB06589 | Pazopanib | Inhibitor | Small molecule | Approved |
Tgene | PDGFRB | P09619 | DB06589 | Pazopanib | Inhibitor | Small molecule | Approved |
Tgene | PDGFRB | P09619 | DB08896 | Regorafenib | Inhibitor | Small molecule | Approved |
Tgene | PDGFRB | P09619 | DB08896 | Regorafenib | Inhibitor | Small molecule | Approved |
Tgene | PDGFRB | P09619 | DB08896 | Regorafenib | Inhibitor | Small molecule | Approved |
Tgene | PDGFRB | P09619 | DB09079 | Nintedanib | Inhibitor | Small molecule | Approved |
Tgene | PDGFRB | P09619 | DB09079 | Nintedanib | Inhibitor | Small molecule | Approved |
Tgene | PDGFRB | P09619 | DB09079 | Nintedanib | Inhibitor | Small molecule | Approved |
Tgene | PDGFRB | P09619 | DB10770 | Foreskin fibroblast (neonatal) | Agonist | Biotech | Approved |
Tgene | PDGFRB | P09619 | DB10770 | Foreskin fibroblast (neonatal) | Agonist | Biotech | Approved |
Tgene | PDGFRB | P09619 | DB10770 | Foreskin fibroblast (neonatal) | Agonist | Biotech | Approved |
Tgene | PDGFRB | P09619 | DB14840 | Ripretinib | Inhibitor | Small molecule | Approved |
Tgene | PDGFRB | P09619 | DB14840 | Ripretinib | Inhibitor | Small molecule | Approved |
Tgene | PDGFRB | P09619 | DB14840 | Ripretinib | Inhibitor | Small molecule | Approved |
Tgene | PDGFRB | P09619 | DB00102 | Becaplermin | Biotech | Approved|Investigational | |
Tgene | PDGFRB | P09619 | DB00102 | Becaplermin | Biotech | Approved|Investigational | |
Tgene | PDGFRB | P09619 | DB00102 | Becaplermin | Biotech | Approved|Investigational | |
Tgene | PDGFRB | P09619 | DB00398 | Sorafenib | Antagonist | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB00398 | Sorafenib | Antagonist | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB00398 | Sorafenib | Antagonist | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB01254 | Dasatinib | Antagonist | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB01254 | Dasatinib | Antagonist | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB01254 | Dasatinib | Antagonist | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB01268 | Sunitinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB01268 | Sunitinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB01268 | Sunitinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB06595 | Midostaurin | Antagonist|Inhibitor | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB06595 | Midostaurin | Antagonist|Inhibitor | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB06595 | Midostaurin | Antagonist|Inhibitor | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB12010 | Fostamatinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB12147 | Erdafitinib | Substrate | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB12147 | Erdafitinib | Substrate | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB12147 | Erdafitinib | Substrate | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB12978 | Pexidartinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB12978 | Pexidartinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB12978 | Pexidartinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB15822 | Pralsetinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB15822 | Pralsetinib | Inhibitor | Small molecule | Approved|Investigational |
Tgene | PDGFRB | P09619 | DB15822 | Pralsetinib | Inhibitor | Small molecule | Approved|Investigational |
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Related Diseases for CCDC6-PDGFRB |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | CCDC6 | C0238463 | Papillary thyroid carcinoma | 2 | CTD_human;ORPHANET |
Hgene | CCDC6 | C3501843 | Nonmedullary Thyroid Carcinoma | 1 | CTD_human |
Hgene | CCDC6 | C3501844 | Familial Nonmedullary Thyroid Cancer | 1 | CTD_human |
Tgene | C3554321 | BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 | 6 | CTD_human;GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0393590 | Fahr's syndrome (disorder) | 3 | GENOMICS_ENGLAND;ORPHANET | |
Tgene | C4225270 | Kosaki overgrowth syndrome | 3 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C4551572 | MYOFIBROMATOSIS, INFANTILE, 1 | 3 | GENOMICS_ENGLAND;UNIPROT | |
Tgene | C0013421 | Dystonia | 2 | GENOMICS_ENGLAND | |
Tgene | C0023480 | Leukemia, Myelomonocytic, Chronic | 2 | ORPHANET | |
Tgene | C0023893 | Liver Cirrhosis, Experimental | 2 | CTD_human | |
Tgene | C0036341 | Schizophrenia | 2 | PSYGENET | |
Tgene | C0432284 | Infantile myofibromatosis | 2 | CTD_human;GENOMICS_ENGLAND;ORPHANET | |
Tgene | C0004782 | Basal Ganglia Diseases | 1 | CTD_human | |
Tgene | C0006663 | Calcinosis | 1 | CTD_human | |
Tgene | C0015371 | Extrapyramidal Disorders | 1 | CTD_human | |
Tgene | C0036337 | Schizoaffective Disorder | 1 | PSYGENET | |
Tgene | C0206648 | Myofibromatosis | 1 | GENOMICS_ENGLAND | |
Tgene | C0263628 | Tumoral calcinosis | 1 | CTD_human | |
Tgene | C0521174 | Microcalcification | 1 | CTD_human | |
Tgene | C0750951 | Lenticulostriate Disorders | 1 | CTD_human | |
Tgene | C1333046 | Myeloproliferative Neoplasm, Unclassifiable | 1 | ORPHANET | |
Tgene | C1866182 | Penttinen-Aula syndrome | 1 | CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT | |
Tgene | C3472621 | Myeloid neoplasm with beta-type platelet-derived growth factor receptor gene rearrangement | 1 | ORPHANET | |
Tgene | C3714756 | Intellectual Disability | 1 | GENOMICS_ENGLAND |