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Fusion gene ID: 38031 |
FusionGeneSummary for THRA_KRT20 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: THRA_KRT20 | Fusion gene ID: 38031 | Hgene | Tgene | Gene symbol | THRA | KRT20 | Gene ID | 7067 | 54474 |
| Gene name | thyroid hormone receptor alpha | keratin 20 | |
| Synonyms | AR7|CHNG6|EAR7|ERB-T-1|ERBA|ERBA1|NR1A1|THRA1|THRA2|c-ERBA-1 | CD20|CK-20|CK20|K20|KRT21 | |
| Cytomap | 17q21.1 | 17q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | thyroid hormone receptor alphaEAR-7ERBA-related 7V-erbA-related protein 7c-erbA-alphanuclear receptor subfamily 1 group A member 1thyroid hormone receptor alpha 1thyroid hormone receptor, alpha (erythroblastic leukemia viral (v-erb-a) oncogene homo | keratin, type I cytoskeletal 20cytokeratin 20keratin 20, type Iprotein IT | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P10827 | P35900 | |
| Ensembl transtripts involved in fusion gene | ENST00000394121, ENST00000264637, ENST00000584985, ENST00000450525, ENST00000546243, | ENST00000167588, | |
| Fusion gene scores | * DoF score | 11 X 8 X 9=792 | 1 X 1 X 1=1 |
| # samples | 15 | 1 | |
| ** MAII score | log2(15/792*10)=-2.40053792958373 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(1/1*10)=3.32192809488736 | |
| Context | PubMed: THRA [Title/Abstract] AND KRT20 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | Tumor suppressor gene involved fusion gene, retained protein feature but frameshift. DDR (DNA damage repair) gene involved fusion gene, in-frame but not retained their 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 | THRA | GO:0006357 | regulation of transcription by RNA polymerase II | 18052923 |
| Hgene | THRA | GO:0006366 | transcription by RNA polymerase II | 8710870|9653119 |
| Hgene | THRA | GO:0009755 | hormone-mediated signaling pathway | 18052923 |
| Hgene | THRA | GO:0017055 | negative regulation of RNA polymerase II transcriptional preinitiation complex assembly | 8524305 |
| Hgene | THRA | GO:0045892 | negative regulation of transcription, DNA-templated | 8710870 |
| Hgene | THRA | GO:2000143 | negative regulation of DNA-templated transcription, initiation | 8524305 |
| 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 | UCS | TCGA-N5-A4RT-01A | THRA | chr17 | 38245586 | + | KRT20 | chr17 | 39033669 | - |
| * 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 | ENST00000394121 | ENST00000167588 | THRA | chr17 | 38245586 | + | KRT20 | chr17 | 39033669 | - |
| Frame-shift | ENST00000264637 | ENST00000167588 | THRA | chr17 | 38245586 | + | KRT20 | chr17 | 39033669 | - |
| Frame-shift | ENST00000584985 | ENST00000167588 | THRA | chr17 | 38245586 | + | KRT20 | chr17 | 39033669 | - |
| Frame-shift | ENST00000450525 | ENST00000167588 | THRA | chr17 | 38245586 | + | KRT20 | chr17 | 39033669 | - |
| Frame-shift | ENST00000546243 | ENST00000167588 | THRA | chr17 | 38245586 | + | KRT20 | chr17 | 39033669 | - |
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FusionProtFeatures for THRA_KRT20 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| THRA | KRT20 |
| Isoform Alpha-1: Nuclear hormone receptor that can actas a repressor or activator of transcription. High affinityreceptor for thyroid hormones, including triiodothyronine andthyroxine. {ECO:0000269|PubMed:12699376,ECO:0000269|PubMed:14673100, ECO:0000269|PubMed:18237438,ECO:0000269|PubMed:19926848}. Isoform Alpha-2: Does not bind thyroid hormone andfunctions as a weak dominant negative inhibitor of thyroid hormoneaction. {ECO:0000269|PubMed:8910441}. | Plays a significant role in maintaining keratin filamentorganization in intestinal epithelia. When phosphorylated, plays arole in the secretion of mucin in the small intestine (Bysimilarity). {ECO:0000250, ECO:0000269|PubMed:12857878,ECO:0000269|PubMed:16608857}. |
| 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 THRA_KRT20 |
| 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 THRA_KRT20 |
| 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 |
| THRA | NCOA6, TDG, CCND1, MEF2A, EP300, YWHAQ, ITGB3BP, POU2F1, DAP3, NR0B2, NRIP1, HR, AKAP13, MED12, MED16, MED6, MED24, CDK8, MED21, TRIM24, COPS2, TRIP11, RXRA, MED1, FUS, HDAC3, NCOR1, ZBTB3, SUV39H1, PARP1, NCOA1, NCOA2, NCOA3, TAF11, TAF7, GRIP1, NCOR2, EMD, PRKDC, SMC1A, LIG3, XRCC5, XRCC6, HSPA4, TBL1XR1, GPS2, TBL1X, CUL1, RGN, SEPP1, CDK7, MED25, ARID5A, GTF2B, C1D, THRA, CLIC1, FOXJ1, BUB3, PTGES3, RANBP9, AMOTL2, L3MBTL3, ENO1, MOV10, NXF1, UBE2I, CEP76, TRIM63, A2ML1, HAL, CST6, MTNR1B | KRT20 | EXOC8, CCDC85B, KRT20, COASY, ANKRD36BP1, VIM, KRT15, PRC1, ABI2, ZC3H14, EIF4E2, ZC2HC1C, AMOTL2, FXR2, C9orf16, PLEKHA5, KRT13, PIK3R2, NUP62, TFIP11, USHBP1, KRT40, KRT80, TXLNA, KRTAP10-7, KRTAP10-9, KRTAP10-8, NOTCH2NL |
| - 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 THRA_KRT20 |
| 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 |
| Hgene | THRA | P10827 | DB00451 | Levothyroxine | Thyroid hormone receptor alpha | small molecule | approved |
| Hgene | THRA | P10827 | DB00509 | Dextrothyroxine | Thyroid hormone receptor alpha | small molecule | approved|investigational |
| Hgene | THRA | P10827 | DB01118 | Amiodarone | Thyroid hormone receptor alpha | small molecule | approved|investigational |
| Hgene | THRA | P10827 | DB00279 | Liothyronine | Thyroid hormone receptor alpha | small molecule | approved|vet_approved |
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RelatedDiseases for THRA_KRT20 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | THRA | C3280817 | HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6 | 2 | UNIPROT |
| Hgene | THRA | C0014175 | Endometriosis | 1 | CTD_human |
| Hgene | THRA | C0019284 | Diaphragmatic Hernia | 1 | CTD_human |
| Tgene | KRT20 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| Tgene | KRT20 | C0007528 | Cecal Neoplasms | 1 | CTD_human |
| Tgene | KRT20 | C0038356 | Stomach Neoplasms | 1 | CTD_human |
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