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Fusion gene ID: 37487 |
FusionGeneSummary for TBL1XR1_RET |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: TBL1XR1_RET | Fusion gene ID: 37487 | Hgene | Tgene | Gene symbol | TBL1XR1 | RET | Gene ID | 79718 | 5979 |
| Gene name | transducin beta like 1 X-linked receptor 1 | ret proto-oncogene | |
| Synonyms | C21|DC42|IRA1|MRD41|TBLR1 | CDHF12|CDHR16|HSCR1|MEN2A|MEN2B|MTC1|PTC|RET-ELE1 | |
| Cytomap | 3q26.32 | 10q11.21 | |
| Type of gene | protein-coding | protein-coding | |
| Description | F-box-like/WD repeat-containing protein TBL1XR1TBL1-related protein 1nuclear receptor co-repressor/HDAC3 complex subunitnuclear receptor corepressor/HDAC3 complex subunit TBLR1 | proto-oncogene tyrosine-protein kinase receptor RetRET receptor tyrosine kinasecadherin family member 12cadherin-related family member 16proto-oncogene c-Retrearranged during transfectionret proto-oncogene (multiple endocrine neoplasia and medullary | |
| Modification date | 20180523 | 20180527 | |
| UniProtAcc | Q9BZK7 | P07949 | |
| Ensembl transtripts involved in fusion gene | ENST00000430069, ENST00000457928, | ENST00000355710, ENST00000340058, | |
| Fusion gene scores | * DoF score | 24 X 9 X 12=2592 | 18 X 10 X 7=1260 |
| # samples | 24 | 65 | |
| ** MAII score | log2(24/2592*10)=-3.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(65/1260*10)=-0.954912110471462 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: TBL1XR1 [Title/Abstract] AND RET [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Oncogene involved fusion gene, in-frame and retained their domain. Kinase involved fusion gene, inframe and retained kinase domain. | ||
| * 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 | TBL1XR1 | GO:0000122 | negative regulation of transcription by RNA polymerase II | 12628926 |
| Hgene | TBL1XR1 | GO:0045893 | positive regulation of transcription, DNA-templated | 18193033 |
| Hgene | TBL1XR1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 18193033 |
| Tgene | RET | GO:0030155 | regulation of cell adhesion | 21357690 |
| Tgene | RET | GO:0030335 | positive regulation of cell migration | 20702524 |
| Tgene | RET | GO:0033619 | membrane protein proteolysis | 21357690 |
| Tgene | RET | GO:0033630 | positive regulation of cell adhesion mediated by integrin | 20702524 |
| Tgene | RET | GO:0035860 | glial cell-derived neurotrophic factor receptor signaling pathway | 28953886 |
| Tgene | RET | GO:0043410 | positive regulation of MAPK cascade | 28846099 |
| 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 | THCA | TCGA-ET-A40R-01A | TBL1XR1 | chr3 | 176765088 | - | RET | chr10 | 43612032 | + |
| * 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 |
| In-frame | ENST00000430069 | ENST00000355710 | TBL1XR1 | chr3 | 176765088 | - | RET | chr10 | 43612032 | + |
| In-frame | ENST00000430069 | ENST00000340058 | TBL1XR1 | chr3 | 176765088 | - | RET | chr10 | 43612032 | + |
| Frame-shit | ENST00000457928 | ENST00000355710 | TBL1XR1 | chr3 | 176765088 | - | RET | chr10 | 43612032 | + |
| Frame-shit | ENST00000457928 | ENST00000340058 | TBL1XR1 | chr3 | 176765088 | - | RET | chr10 | 43612032 | + |
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FusionProtFeatures for TBL1XR1_RET |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| TBL1XR1 | RET |
| F-box-like protein involved in the recruitment of theubiquitin/19S proteasome complex to nuclear receptor-regulatedtranscription units. Plays an essential role in transcriptionactivation mediated by nuclear receptors. Probably acts asintegral component of the N-Cor corepressor complex that mediatesthe recruitment of the 19S proteasome complex, leading to thesubsequent proteasomal degradation of N-Cor complex, therebyallowing cofactor exchange, and transcription activation.{ECO:0000269|PubMed:14980219}. | Receptor tyrosine-protein kinase involved in numerouscellular mechanisms including cell proliferation, neuronalnavigation, cell migration, and cell differentiation upon bindingwith glial cell derived neurotrophic factor family ligands.Phosphorylates PTK2/FAK1. Regulates both cell death/survivalbalance and positional information. Required for the molecularmechanisms orchestration during intestine organogenesis; involvedin the development of enteric nervous system and renalorganogenesis during embryonic life, and promotes the formation ofPeyer's patch-like structures, a major component of the gut-associated lymphoid tissue. Modulates cell adhesion via itscleavage by caspase in sympathetic neurons and mediates cellmigration in an integrin (e.g. ITGB1 and ITGB3)-dependent manner.Involved in the development of the neural crest. Active in theabsence of ligand, triggering apoptosis through a mechanism thatrequires receptor intracellular caspase cleavage. Acts as adependence receptor; in the presence of the ligand GDNF insomatotrophs (within pituitary), promotes survival and downregulates growth hormone (GH) production, but triggers apoptosisin absence of GDNF. Regulates nociceptor survival and size.Triggers the differentiation of rapidly adapting (RA)mechanoreceptors. Mediator of several diseases such asneuroendocrine cancers; these diseases are characterized byaberrant integrins-regulated cell migration. Mediates, throughinteraction with GDF15-receptor GFRAL, GDF15-induced cell-signaling in the brainstem which induces inhibition of food-intake. Activates MAPK- and AKT-signaling pathways(PubMed:28846097, PubMed:28953886, PubMed:28846099). Isoform 1 incomplex with GFRAL induces higher activation of MAPK-signalingpathway than isoform 2 in complex with GFRAL (PubMed:28846099).{ECO:0000269|PubMed:20064382, ECO:0000269|PubMed:20616503,ECO:0000269|PubMed:20702524, ECO:0000269|PubMed:21357690,ECO:0000269|PubMed:21454698, ECO:0000269|PubMed:28846097,ECO:0000269|PubMed:28846099, ECO:0000269|PubMed:28953886}. |
| 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 |
| Hgene | TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000430069 | - | 9 | 16 | 108_118 | 288 | 515 | Compositional bias | Note=Poly-Ala |
| Hgene | TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000457928 | - | 9 | 16 | 108_118 | 288 | 515 | Compositional bias | Note=Poly-Ala |
| Hgene | TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000430069 | - | 9 | 16 | 41_86 | 288 | 515 | Domain | Note=F-box-like |
| Hgene | TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000430069 | - | 9 | 16 | 4_36 | 288 | 515 | Domain | LisH |
| Hgene | TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000457928 | - | 9 | 16 | 41_86 | 288 | 515 | Domain | Note=F-box-like |
| Hgene | TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000457928 | - | 9 | 16 | 4_36 | 288 | 515 | Domain | LisH |
| Hgene | TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000430069 | - | 9 | 16 | 167_206 | 288 | 515 | Repeat | Note=WD 1 |
| Hgene | TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000430069 | - | 9 | 16 | 223_262 | 288 | 515 | Repeat | Note=WD 2 |
| Hgene | TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000457928 | - | 9 | 16 | 167_206 | 288 | 515 | Repeat | Note=WD 1 |
| Hgene | TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000457928 | - | 9 | 16 | 223_262 | 288 | 515 | Repeat | Note=WD 2 |
| Tgene | >RET | chr3:176765088 | chr10:43612032 | ENST00000340058 | + | 10 | 19 | 724_1016 | 712 | 1073 | Domain | Protein kinase |
| Tgene | >RET | chr3:176765088 | chr10:43612032 | ENST00000355710 | + | 10 | 20 | 724_1016 | 712 | 1115 | Domain | Protein kinase |
| Tgene | >RET | chr3:176765088 | chr10:43612032 | ENST00000340058 | + | 10 | 19 | 730_738 | 712 | 1073 | Nucleotide binding | ATP |
| Tgene | >RET | chr3:176765088 | chr10:43612032 | ENST00000355710 | + | 10 | 20 | 730_738 | 712 | 1115 | Nucleotide binding | ATP |
| Tgene | >RET | chr3:176765088 | chr10:43612032 | ENST00000340058 | + | 10 | 19 | 805_807 | 712 | 1073 | Region | Note=Inhibitors binding |
| Tgene | >RET | chr3:176765088 | chr10:43612032 | ENST00000355710 | + | 10 | 20 | 805_807 | 712 | 1115 | Region | Note=Inhibitors binding |
| - 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 | >TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000430069 | - | 9 | 16 | 264_303 | 288 | 515 | Repeat | Note=WD 3 |
| Hgene | >TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000430069 | - | 9 | 16 | 306_344 | 288 | 515 | Repeat | Note=WD 4 |
| Hgene | >TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000430069 | - | 9 | 16 | 347_386 | 288 | 515 | Repeat | Note=WD 5 |
| Hgene | >TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000430069 | - | 9 | 16 | 389_437 | 288 | 515 | Repeat | Note=WD 6 |
| Hgene | >TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000430069 | - | 9 | 16 | 440_479 | 288 | 515 | Repeat | Note=WD 7 |
| Hgene | >TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000430069 | - | 9 | 16 | 481_513 | 288 | 515 | Repeat | Note=WD 8 |
| Hgene | >TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000457928 | - | 9 | 16 | 264_303 | 288 | 515 | Repeat | Note=WD 3 |
| Hgene | >TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000457928 | - | 9 | 16 | 306_344 | 288 | 515 | Repeat | Note=WD 4 |
| Hgene | >TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000457928 | - | 9 | 16 | 347_386 | 288 | 515 | Repeat | Note=WD 5 |
| Hgene | >TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000457928 | - | 9 | 16 | 389_437 | 288 | 515 | Repeat | Note=WD 6 |
| Hgene | >TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000457928 | - | 9 | 16 | 440_479 | 288 | 515 | Repeat | Note=WD 7 |
| Hgene | >TBL1XR1 | chr3:176765088 | chr10:43612032 | ENST00000457928 | - | 9 | 16 | 481_513 | 288 | 515 | Repeat | Note=WD 8 |
| Tgene | RET | chr3:176765088 | chr10:43612032 | ENST00000340058 | + | 10 | 19 | 168_272 | 712 | 1073 | Domain | Cadherin |
| Tgene | RET | chr3:176765088 | chr10:43612032 | ENST00000355710 | + | 10 | 20 | 168_272 | 712 | 1115 | Domain | Cadherin |
| Tgene | RET | chr3:176765088 | chr10:43612032 | ENST00000340058 | + | 10 | 19 | 29_635 | 712 | 1073 | Topological domain | Extracellular |
| Tgene | RET | chr3:176765088 | chr10:43612032 | ENST00000340058 | + | 10 | 19 | 658_1114 | 712 | 1073 | Topological domain | Cytoplasmic |
| Tgene | RET | chr3:176765088 | chr10:43612032 | ENST00000355710 | + | 10 | 20 | 29_635 | 712 | 1115 | Topological domain | Extracellular |
| Tgene | RET | chr3:176765088 | chr10:43612032 | ENST00000355710 | + | 10 | 20 | 658_1114 | 712 | 1115 | Topological domain | Cytoplasmic |
| Tgene | RET | chr3:176765088 | chr10:43612032 | ENST00000340058 | + | 10 | 19 | 636_657 | 712 | 1073 | Transmembrane | Helical |
| Tgene | RET | chr3:176765088 | chr10:43612032 | ENST00000355710 | + | 10 | 20 | 636_657 | 712 | 1115 | Transmembrane | Helical |
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FusionGeneSequence for TBL1XR1_RET |
| 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. |
| >In-frame_TBL1XR1_ENST00000430069_chr3_176765088_-_RET_ENST00000355710_chr10_43612032_+_691aa MSISSDEVNFLVTRYLQESGFSHSAFTFGIESHISQSNINGALVPPAALISIIQKGLQTVEAEVSINEDGTLFDGRPIESLSLIDAVMPD VVQTRQQATRDKLAQQQAAAAAAAAAAASQQGSAKNGENTANGEENGAHTIANNHTDMMEVDGDVEIPPNKAVVLRGHESEVFICAWNPV SDLLASGSGDSTARIWNLSENSTSGSTQLVLRHCIREGGQDVPSNKDVTSLDWNSEGTLLATGSTDGFARIWTKDGNLASTLGQHKGPIF ALKWNKKGNFILSAGVDKEDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKGRAGYTTVAVKMLKENASPSELRDLLSEFNVLKQVNH PHVIKLTGACSQDGPLLLIVEYAKYGSLRGFLRESRKVGPGYLGSGGSRNSSSLDHPDERALTMGDLISFAWQISQGMQTLAEMKLVHRD LAARNILVAEGRKMKISDFGLSRDVTEEDSYVKRSQGRIPVKWMAIESLFDHIYTTQSDVWSFGVLLWEIVTLGGNPTPGIPPERLFNLL KTGHRMERPDNCSEEMYRLMLQCWKQEPDKRPVFADISKDLEKMMVKRRDYLDLAASTPSDSLITDDGLSEEETPLVDCNNAPLPRALPS >In-frame_TBL1XR1_ENST00000430069_chr3_176765088_-_RET_ENST00000340058_chr10_43612032_+_649aa MSISSDEVNFLVTRYLQESGFSHSAFTFGIESHISQSNINGALVPPAALISIIQKGLQTVEAEVSINEDGTLFDGRPIESLSLIDAVMPD VVQTRQQATRDKLAQQQAAAAAAAAAAASQQGSAKNGENTANGEENGAHTIANNHTDMMEVDGDVEIPPNKAVVLRGHESEVFICAWNPV SDLLASGSGDSTARIWNLSENSTSGSTQLVLRHCIREGGQDVPSNKDVTSLDWNSEGTLLATGSTDGFARIWTKDGNLASTLGQHKGPIF ALKWNKKGNFILSAGVDKEDPKWEFPRKNLVLGKTLGEGEFGKVVKATAFHLKGRAGYTTVAVKMLKENASPSELRDLLSEFNVLKQVNH PHVIKLTGACSQDGPLLLIVEYAKYGSLRGFLRESRKVGPGYLGSGGSRNSSSLDHPDERALTMGDLISFAWQISQGMQTLAEMKLVHRD LAARNILVAEGRKMKISDFGLSRDVTEEDSYVKRSQGRIPVKWMAIESLFDHIYTTQSDVWSFGVLLWEIVTLGGNPTPGIPPERLFNLL KTGHRMERPDNCSEEMYRLMLQCWKQEPDKRPVFADISKDLEKMMVKRRDYLDLAASTPSDSLITDDGLSEEETPLVDCNNAPLPRALPS |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_TBL1XR1_ENST00000430069_chr3_176765088_-_RET_ENST00000355710_chr10_43612032_+_2073nt ATGAGTATAAGCAGTGATGAGGTCAACTTCTTGGTATATAGATACTTGCAAGAGTCAGGATTTTCTCATTCAGCATTTACCTTTGGTATA GAAAGCCATATCAGTCAGTCCAATATAAATGGTGCCCTCGTCCCACCCGCTGCATTGATTTCTATCATCCAGAAAGGTCTACAGTATGTA GAAGCAGAAGTTAGTATTAATGAGGATGGTACCTTGTTTGATGGTCGACCAATAGAGTCTCTGTCCCTGATAGATGCCGTAATGCCTGAT GTAGTACAAACAAGACAACAAGCTTATAGAGATAAGCTTGCACAGCAACAGGCAGCAGCTGCTGCAGCTGCCGCAGCTGCAGCCAGCCAA CAAGGATCTGCAAAAAATGGAGAAAACACAGCAAATGGGGAGGAGAATGGAGCACATACTATAGCAAATAATCATACTGATATGATGGAA GTGGATGGGGATGTTGAAATCCCTCCTAATAAAGCTGTTGTGTTGCGGGGCCATGAATCTGAAGTTTTTATCTGTGCCTGGAACCCTGTT AGTGATCTCCTAGCATCAGGGTCTGGAGACTCAACAGCAAGAATATGGAATCTTAGTGAGAACAGCACCAGTGGCTCTACACAGTTAGTA CTTAGACATTGTATACGAGAAGGAGGGCAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGATTGGAATAGTGAAGGTACACTTCTA GCAACTGGTTCCTATGATGGGTTTGCCAGAATATGGACTAAAGATGGTAACCTTGCTAGCACCTTAGGGCAGCATAAAGGCCCTATATTT GCATTAAAATGGAATAAGAAAGGAAATTTCATCCTAAGTGCTGGAGTAGACAAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTG GTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGGTACACCACG GTGGCCGTGAAGATGCTGAAAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCAC CCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGC TTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGG GCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGCTCGTTCATCGGGAC TTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCC TACGTGAAGAGGAGCCAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTA TGGTCTTTTGGTGTCCTGCTGTGGGAGATCGTGACCCTAGGGGGAAACCCCTATCCTGGGATTCCTCCTGAGCGGCTCTTCAACCTTCTG AAGACCGGCCACCGGATGGAGAGGCCAGACAACTGCAGCGAGGAGATGTACCGCCTGATGCTGCAATGCTGGAAGCAGGAGCCGGACAAA AGGCCGGTGTTTGCGGACATCAGCAAAGACCTGGAGAAGATGATGGTTAAGAGGAGAGACTACTTGGACCTTGCGGCGTCCACTCCATCT GACTCCCTGATTTATGACGACGGCCTCTCAGAGGAGGAGACACCGCTGGTGGACTGTAATAATGCCCCCCTCCCTCGAGCCCTCCCTTCC ACATGGATTGAAAACAAACTCTATGGCATGTCAGACCCGAACTGGCCTGGAGAGAGTCCTGTACCACTCACGAGAGCTGATGGCACTAAC ACTGGGTTTCCAAGATATCCAAATGATAGTGTATATGCTAACTGGATGCTTTCACCCTCAGCGGCAAAATTAATGGACACGTTTGATAGT >In-frame_TBL1XR1_ENST00000430069_chr3_176765088_-_RET_ENST00000340058_chr10_43612032_+_1947nt ATGAGTATAAGCAGTGATGAGGTCAACTTCTTGGTATATAGATACTTGCAAGAGTCAGGATTTTCTCATTCAGCATTTACCTTTGGTATA GAAAGCCATATCAGTCAGTCCAATATAAATGGTGCCCTCGTCCCACCCGCTGCATTGATTTCTATCATCCAGAAAGGTCTACAGTATGTA GAAGCAGAAGTTAGTATTAATGAGGATGGTACCTTGTTTGATGGTCGACCAATAGAGTCTCTGTCCCTGATAGATGCCGTAATGCCTGAT GTAGTACAAACAAGACAACAAGCTTATAGAGATAAGCTTGCACAGCAACAGGCAGCAGCTGCTGCAGCTGCCGCAGCTGCAGCCAGCCAA CAAGGATCTGCAAAAAATGGAGAAAACACAGCAAATGGGGAGGAGAATGGAGCACATACTATAGCAAATAATCATACTGATATGATGGAA GTGGATGGGGATGTTGAAATCCCTCCTAATAAAGCTGTTGTGTTGCGGGGCCATGAATCTGAAGTTTTTATCTGTGCCTGGAACCCTGTT AGTGATCTCCTAGCATCAGGGTCTGGAGACTCAACAGCAAGAATATGGAATCTTAGTGAGAACAGCACCAGTGGCTCTACACAGTTAGTA CTTAGACATTGTATACGAGAAGGAGGGCAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGATTGGAATAGTGAAGGTACACTTCTA GCAACTGGTTCCTATGATGGGTTTGCCAGAATATGGACTAAAGATGGTAACCTTGCTAGCACCTTAGGGCAGCATAAAGGCCCTATATTT GCATTAAAATGGAATAAGAAAGGAAATTTCATCCTAAGTGCTGGAGTAGACAAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTG GTTCTTGGAAAAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGGTACACCACG GTGGCCGTGAAGATGCTGAAAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCAC CCACATGTCATCAAATTGTATGGGGCCTGCAGCCAGGATGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGC TTCCTCCGCGAGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGG GCCCTCACCATGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGCTCGTTCATCGGGAC TTGGCAGCCAGAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCC TACGTGAAGAGGAGCCAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTA TGGTCTTTTGGTGTCCTGCTGTGGGAGATCGTGACCCTAGGGGGAAACCCCTATCCTGGGATTCCTCCTGAGCGGCTCTTCAACCTTCTG AAGACCGGCCACCGGATGGAGAGGCCAGACAACTGCAGCGAGGAGATGTACCGCCTGATGCTGCAATGCTGGAAGCAGGAGCCGGACAAA AGGCCGGTGTTTGCGGACATCAGCAAAGACCTGGAGAAGATGATGGTTAAGAGGAGAGACTACTTGGACCTTGCGGCGTCCACTCCATCT GACTCCCTGATTTATGACGACGGCCTCTCAGAGGAGGAGACACCGCTGGTGGACTGTAATAATGCCCCCCTCCCTCGAGCCCTCCCTTCC |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_TBL1XR1_ENST00000430069_chr3_176765088_-_RET_ENST00000355710_chr10_43612032_+_4415nt GCGCGGCAGCCGGGCCTTGCTCCGGGACGTGTTTATTTGTAACTTAGTGCTTTTTATCGTCTTAAGGAGGTATTTGGTGGAGGCTCTTTG AAGTTGGGTTCAGGAGTGTAGAATTGGCAAAGTTATTGCCAGCTTCCTGCATCAACAACAGCAACTTGTGATTGGCGGTGACCGGATATT CAGTTGCACATCCCCACATCAATGCACTGCCAATGGGTTATATCCTGTGTTGTGACCTCATGGTTTAAGTGGGAATAAAGATGAGTATAA GCAGTGATGAGGTCAACTTCTTGGTATATAGATACTTGCAAGAGTCAGGATTTTCTCATTCAGCATTTACCTTTGGTATAGAAAGCCATA TCAGTCAGTCCAATATAAATGGTGCCCTCGTCCCACCCGCTGCATTGATTTCTATCATCCAGAAAGGTCTACAGTATGTAGAAGCAGAAG TTAGTATTAATGAGGATGGTACCTTGTTTGATGGTCGACCAATAGAGTCTCTGTCCCTGATAGATGCCGTAATGCCTGATGTAGTACAAA CAAGACAACAAGCTTATAGAGATAAGCTTGCACAGCAACAGGCAGCAGCTGCTGCAGCTGCCGCAGCTGCAGCCAGCCAACAAGGATCTG CAAAAAATGGAGAAAACACAGCAAATGGGGAGGAGAATGGAGCACATACTATAGCAAATAATCATACTGATATGATGGAAGTGGATGGGG ATGTTGAAATCCCTCCTAATAAAGCTGTTGTGTTGCGGGGCCATGAATCTGAAGTTTTTATCTGTGCCTGGAACCCTGTTAGTGATCTCC TAGCATCAGGGTCTGGAGACTCAACAGCAAGAATATGGAATCTTAGTGAGAACAGCACCAGTGGCTCTACACAGTTAGTACTTAGACATT GTATACGAGAAGGAGGGCAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGATTGGAATAGTGAAGGTACACTTCTAGCAACTGGTT CCTATGATGGGTTTGCCAGAATATGGACTAAAGATGGTAACCTTGCTAGCACCTTAGGGCAGCATAAAGGCCCTATATTTGCATTAAAAT GGAATAAGAAAGGAAATTTCATCCTAAGTGCTGGAGTAGACAAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAA AAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGGTACACCACGGTGGCCGTGA AGATGCTGAAAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCA TCAAATTGTATGGGGCCTGCAGCCAGGATGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCG AGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCA TGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGCTCGTTCATCGGGACTTGGCAGCCA GAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGA GGAGCCAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTATGGTCTTTTG GTGTCCTGCTGTGGGAGATCGTGACCCTAGGGGGAAACCCCTATCCTGGGATTCCTCCTGAGCGGCTCTTCAACCTTCTGAAGACCGGCC ACCGGATGGAGAGGCCAGACAACTGCAGCGAGGAGATGTACCGCCTGATGCTGCAATGCTGGAAGCAGGAGCCGGACAAAAGGCCGGTGT TTGCGGACATCAGCAAAGACCTGGAGAAGATGATGGTTAAGAGGAGAGACTACTTGGACCTTGCGGCGTCCACTCCATCTGACTCCCTGA TTTATGACGACGGCCTCTCAGAGGAGGAGACACCGCTGGTGGACTGTAATAATGCCCCCCTCCCTCGAGCCCTCCCTTCCACATGGATTG AAAACAAACTCTATGGCATGTCAGACCCGAACTGGCCTGGAGAGAGTCCTGTACCACTCACGAGAGCTGATGGCACTAACACTGGGTTTC CAAGATATCCAAATGATAGTGTATATGCTAACTGGATGCTTTCACCCTCAGCGGCAAAATTAATGGACACGTTTGATAGTTAACATTTCT TTGTGAAAGGTAATGGACTCACAAGGGGAAGAAACATGCTGAGAATGGAAAGTCTACCGGCCCTTTCTTTGTGAACGTCACATTGGCCGA GCCGTGTTCAGTTCCCAGGTGGCAGACTCGTTTTTGGTAGTTTGTTTTAACTTCCAAGGTGGTTTTACTTCTGATAGCCGGTGATTTTCC CTCCTAGCAGACATGCCACACCGGGTAAGAGCTCTGAGTCTTAGTGGTTAAGCATTCCTTTCTCTTCAGTGCCCAGCAGCACCCAGTGTT GGTCTGTGTCCATCAGTGACCACCAACATTCTGTGTTCACATGTGTGGGTCCAACACTTACTACCTGGTGTATGAAATTGGACCTGAACT GTTGGATTTTTCTAGTTGCCGCCAAACAAGGCAAAAAAATTTAAACATGAAGCACACACACAAAAAAGGCAGTAGGAAAAATGCTGGCCC TGATGACCTGTCCTTATTCAGAATGAGAGACTGCGGGGGGGGCCTGGGGGTAGTGTCAATGCCCCTCCAGGGCTGGAGGGGAAGAGGGGC CCCGAGGATGGGCCTGGGCTCAGCATTCGAGATCTTGAGAATGATTTTTTTTAAATCATGCAACCTTTCCTTAGGAAGACATTTGGTTTT CATCATGATTAAGATGATTCCTAGATTTAGCACAATGGAGAGATTCCATGCCATCTTTACTATGTGGATGGTGGTATCAGGGAAGAGGGC TCACAAGACACATTTGTCCCCCGGGCCCACCACATCATCCTCACGTGTTCGGTACTGAGCAGCCACTACCCCTGATGAGAACAGTATGAA GAAAGGGGGCTGTTGGAGTCCCAGAATTGCTGACAGCAGAGGCTTTGCTGCTGTGAATCCCACCTGCCACCAGCCTGCAGCACACCCCAC AGCCAAGTAGAGGCGAAAGCAGTGGCTCATCCTACCTGTTAGGAGCAGGTAGGGCTTGTACTCACTTTAATTTGAATCTTATCAACTTAC TCATAAAGGGACAGGCTAGCTAGCTGTGTTAGAAGTAGCAATGACAATGACCAAGGACTGCTACACCTCTGATTACAATTCTGATGTGAA AAAGATGGTGTTTGGCTCTTATAGAGCCTGTGTGAAAGGCCCATGGATCAGCTCTTCCTGTGTTTGTAATTTAATGCTGCTACAAGATGT TTCTGTTTCTTAGATTCTGACCATGACTCATAAGCTTCTTGTCATTCTTCATTGCTTGTTTGTGGTCACAGATGCACAACACTCCTCCAG TCTTGTGGGGGCAGCTTTTGGGAAGTCTCAGCAGCTCTTCTGGCTGTGTTGTCAGCACTGTAACTTCGCAGAAAAGAGTCGGATTACCAA AACACTGCCTGCTCTTCAGACTTAAAGCACTGATAGGACTTAAAATAGTCTCATTCAAATACTGTATTTTATATAGGCATTTCACAAAAA CAGCAAAATTGTGGCATTTTGTGAGGCCAAGGCTTGGATGCGTGTGTAATAGAGCCTTGTGGTGTGTGCGCACACACCCAGAGGGAGAGT TTGAAAAATGCTTATTGGACACGTAACCTGGCTCTAATTTGGGCTGTTTTTCAGATACACTGTGATAAGTTCTTTTACAAATATCTATAG ACATGGTAAACTTTTGGTTTTCAGATATGCTTAATGATAGTCTTACTAAATGCAGAAATAAGAATAAACTTTCTCAAATTATTAAAAATG CCTACACAGTAAGTGTGAATTGCTGCAACAGGTTTGTTCTCAGGAGGGTAAGAACTCCAGGTCTAAACAGCTGACCCAGTGATGGGGAAT TTATCCTTGACCAATTTATCCTTGACCAATAACCTAATTGTCTATTCCTGAGTTATAAAAGTCCCCATCCTTATTAGCTCTACTGGAATT TTCATACACGTAAATGCAGAAGTTACTAAGTATTAAGTATTACTGAGTATTAAGTAGTAATCTGTCAGTTATTAAAATTTGTAAAATCTA TTTATGAAAGGTCATTAAACCAGATCATGTTCCTTTTTTTGTAATCAAGGTGACTAAGAAAATCAGTTGTGTAAATAAAATCATGTATCA >In-frame_TBL1XR1_ENST00000430069_chr3_176765088_-_RET_ENST00000340058_chr10_43612032_+_2957nt GCGCGGCAGCCGGGCCTTGCTCCGGGACGTGTTTATTTGTAACTTAGTGCTTTTTATCGTCTTAAGGAGGTATTTGGTGGAGGCTCTTTG AAGTTGGGTTCAGGAGTGTAGAATTGGCAAAGTTATTGCCAGCTTCCTGCATCAACAACAGCAACTTGTGATTGGCGGTGACCGGATATT CAGTTGCACATCCCCACATCAATGCACTGCCAATGGGTTATATCCTGTGTTGTGACCTCATGGTTTAAGTGGGAATAAAGATGAGTATAA GCAGTGATGAGGTCAACTTCTTGGTATATAGATACTTGCAAGAGTCAGGATTTTCTCATTCAGCATTTACCTTTGGTATAGAAAGCCATA TCAGTCAGTCCAATATAAATGGTGCCCTCGTCCCACCCGCTGCATTGATTTCTATCATCCAGAAAGGTCTACAGTATGTAGAAGCAGAAG TTAGTATTAATGAGGATGGTACCTTGTTTGATGGTCGACCAATAGAGTCTCTGTCCCTGATAGATGCCGTAATGCCTGATGTAGTACAAA CAAGACAACAAGCTTATAGAGATAAGCTTGCACAGCAACAGGCAGCAGCTGCTGCAGCTGCCGCAGCTGCAGCCAGCCAACAAGGATCTG CAAAAAATGGAGAAAACACAGCAAATGGGGAGGAGAATGGAGCACATACTATAGCAAATAATCATACTGATATGATGGAAGTGGATGGGG ATGTTGAAATCCCTCCTAATAAAGCTGTTGTGTTGCGGGGCCATGAATCTGAAGTTTTTATCTGTGCCTGGAACCCTGTTAGTGATCTCC TAGCATCAGGGTCTGGAGACTCAACAGCAAGAATATGGAATCTTAGTGAGAACAGCACCAGTGGCTCTACACAGTTAGTACTTAGACATT GTATACGAGAAGGAGGGCAAGATGTTCCAAGCAACAAGGATGTCACATCTCTAGATTGGAATAGTGAAGGTACACTTCTAGCAACTGGTT CCTATGATGGGTTTGCCAGAATATGGACTAAAGATGGTAACCTTGCTAGCACCTTAGGGCAGCATAAAGGCCCTATATTTGCATTAAAAT GGAATAAGAAAGGAAATTTCATCCTAAGTGCTGGAGTAGACAAGGAGGATCCAAAGTGGGAATTCCCTCGGAAGAACTTGGTTCTTGGAA AAACTCTAGGAGAAGGCGAATTTGGAAAAGTGGTCAAGGCAACGGCCTTCCATCTGAAAGGCAGAGCAGGGTACACCACGGTGGCCGTGA AGATGCTGAAAGAGAACGCCTCCCCGAGTGAGCTGCGAGACCTGCTGTCAGAGTTCAACGTCCTGAAGCAGGTCAACCACCCACATGTCA TCAAATTGTATGGGGCCTGCAGCCAGGATGGCCCGCTCCTCCTCATCGTGGAGTACGCCAAATACGGCTCCCTGCGGGGCTTCCTCCGCG AGAGCCGCAAAGTGGGGCCTGGCTACCTGGGCAGTGGAGGCAGCCGCAACTCCAGCTCCCTGGACCACCCGGATGAGCGGGCCCTCACCA TGGGCGACCTCATCTCATTTGCCTGGCAGATCTCACAGGGGATGCAGTATCTGGCCGAGATGAAGCTCGTTCATCGGGACTTGGCAGCCA GAAACATCCTGGTAGCTGAGGGGCGGAAGATGAAGATTTCGGATTTCGGCTTGTCCCGAGATGTTTATGAAGAGGATTCCTACGTGAAGA GGAGCCAGGGTCGGATTCCAGTTAAATGGATGGCAATTGAATCCCTTTTTGATCATATCTACACCACGCAAAGTGATGTATGGTCTTTTG GTGTCCTGCTGTGGGAGATCGTGACCCTAGGGGGAAACCCCTATCCTGGGATTCCTCCTGAGCGGCTCTTCAACCTTCTGAAGACCGGCC ACCGGATGGAGAGGCCAGACAACTGCAGCGAGGAGATGTACCGCCTGATGCTGCAATGCTGGAAGCAGGAGCCGGACAAAAGGCCGGTGT TTGCGGACATCAGCAAAGACCTGGAGAAGATGATGGTTAAGAGGAGAGACTACTTGGACCTTGCGGCGTCCACTCCATCTGACTCCCTGA TTTATGACGACGGCCTCTCAGAGGAGGAGACACCGCTGGTGGACTGTAATAATGCCCCCCTCCCTCGAGCCCTCCCTTCCACATGGATTG AAAACAAACTCTATGGTAGAATTTCCCATGCATTTACTAGATTCTAGCACCGCTGTCCCCTTTGCACTATCCTTCCTCTCTGTGATGCTT TTTAAAAATGTTTCTGGTCTGAACAAAACCAAAGTCTGCTCTGAACCTTTTTATTTGTAAATGTCTGACTTTGCATCCAGTTTACATTTA GGCATTATTGCAACTATGTTTTTCTAAAAGGATGTGAAAATAAGTGTAATTACCACATTGCCCAGCAACTTAGGATGGTAGAGGAAAAAA CAGATCAGGGCGGAACTCTCAGGGGAGACCAAGAACAGGTTGAATAAGGCGCTTCTGGGGTGGGAATCAAGTCATAGTACTTCTACTTTA ACTAAGTGGATAAATATACAAATCTGGGGAGGTATTCAGTTGAGAAAGGAGCCACCAGCACCACTCAGCCTGCACTGGGAGCACAGCCAG GTTCCCCCAGACCCCTCCTGGGCAGGCAGGTGCCTCTCAGAGGCCACCCGGCACTGGCGAGCAGCCACTGGCCAAGCCTCAGCCCCAGTC CCAGCCACATGTCCTCCATCAGGGGTAGCGAGGTTGCAGGAGCTGGCTGGCCCTGGGAGGACGCACCCCCACTGCTGTTTTCACATCCTT TCCCTTACCCACCTTCAGGACGGTTGTCACTTATGAAGTCAGTGCTAAAGCTGGAGCAGTTGCTTTTTGAAAGAACATGGTCTGTGGTGC |
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FusionGenePPI for TBL1XR1_RET |
| 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 |
| TBL1XR1 | NCOR1, HIST2H4A, HIST2H2BE, HDAC3, TBL1X, SKI, UBE2E3, EMD, THRA, THRB, BCL3, HDAC5, PSMA3, SOX2, ELAVL1, UBE2D1, CTNNB1, TAB2, AR, ESR1, RARA, CHD4, CD2BP2, NOTCH1, KDM1A, GPS2, HDAC1, HDAC4, HDAC7, ABCF1, IRS4, ARL2, RNF2, SIRT6, QPRT, FKBP6, TTC29, TSC22D4, ACTL6A, EIF2A, NHP2L1, PPIF, SMARCB1, SMARCC1, SMARCC2, SMARCD1, SMARCD2, SMARCD3, NTRK1, NINL, XPO1, FOXK1, FOXK2, UBE2I, TBL1Y, NCAPH2, MKX, IL17RA, HAO2, USP44, TRIM25 | RET | STAT3, DOK6, DOK5, SRC, SHC1, PTPRF, DOK2, DOK4, DOK1, GRB2, CRK, PLCG1, PDLIM7, GRB7, FRS2, NRTN, GFRA1, GRB10, IKBKG, MCRS1, CBL, CBLC, RET, HSP90AA1, NOTCH2NL, NOTCH3, AIP, EGFR, NTRK1, ZBTB48, HNRNPD, SORT1, SYNCRIP, SGTB, BAG6, HIST1H3A, KYNU, TXNL4A, ZCCHC8, ICE2, MAPK3, PTK2, MAPK1, PTPRR, DUSP26 |
| - 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 TBL1XR1_RET |
| 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 |
| Tgene | RET | P07949 | DB05294 | Vandetanib | Proto-oncogene tyrosine-protein kinase receptor Ret {ECO:0000305} | small molecule | approved |
| Tgene | RET | P07949 | DB08896 | Regorafenib | Proto-oncogene tyrosine-protein kinase receptor Ret {ECO:0000305} | small molecule | approved |
| Tgene | RET | P07949 | DB00398 | Sorafenib | Proto-oncogene tyrosine-protein kinase receptor Ret {ECO:0000305} | small molecule | approved|investigational |
| Tgene | RET | P07949 | DB08875 | Cabozantinib | Proto-oncogene tyrosine-protein kinase receptor Ret {ECO:0000305} | small molecule | approved|investigational |
| Tgene | RET | P07949 | DB08901 | Ponatinib | Proto-oncogene tyrosine-protein kinase receptor Ret {ECO:0000305} | small molecule | approved|investigational |
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RelatedDiseases for TBL1XR1_RET |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | TBL1XR1 | C0345967 | Malignant mesothelioma | 1 | CTD_human |
| Hgene | TBL1XR1 | C1865644 | Plantar Lipomatosis, Unusual Facies, and Developmental Delay | 1 | UNIPROT |
| Tgene | RET | C3888239 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | 15 | UNIPROT |
| Tgene | RET | C0025268 | Multiple Endocrine Neoplasia Type 2a | 14 | CTD_human;ORPHANET;UNIPROT |
| Tgene | RET | C1833921 | Familial medullary thyroid carcinoma | 14 | CTD_human;ORPHANET;UNIPROT |
| Tgene | RET | C0025269 | Multiple Endocrine Neoplasia Type 2b | 8 | CTD_human;ORPHANET;UNIPROT |
| Tgene | RET | C1275808 | Congenital central hypoventilation | 4 | CTD_human;ORPHANET;UNIPROT |
| Tgene | RET | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
| Tgene | RET | C0019569 | Hirschsprung Disease | 2 | CTD_human;HPO;ORPHANET |
| Tgene | RET | C0006413 | Burkitt Lymphoma | 1 | CTD_human |
| Tgene | RET | C0027662 | Multiple Endocrine Neoplasia | 1 | CTD_human |
| Tgene | RET | C0031511 | Pheochromocytoma | 1 | CTD_human;HPO;UNIPROT |
| Tgene | RET | C0038220 | Status Epilepticus | 1 | CTD_human |
| Tgene | RET | C0040136 | Thyroid Neoplasm | 1 | CTD_human |
| Tgene | RET | C0206693 | Medullary carcinoma | 1 | CTD_human |
| Tgene | RET | C0238462 | Medullary carcinoma of thyroid | 1 | CTD_human;HPO |
| Tgene | RET | C0740340 | Amyloidosis, Familial | 1 | CTD_human |
| Tgene | RET | C1609433 | Congenital absence of kidneys syndrome | 1 | CTD_human;ORPHANET |
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