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Fusion gene ID: 30991 |
FusionGeneSummary for RET_ANK3 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: RET_ANK3 | Fusion gene ID: 30991 | Hgene | Tgene | Gene symbol | RET | ANK3 | Gene ID | 5979 | 288 |
| Gene name | ret proto-oncogene | ankyrin 3 | |
| Synonyms | CDHF12|CDHR16|HSCR1|MEN2A|MEN2B|MTC1|PTC|RET-ELE1 | ANKYRIN-G|MRT37 | |
| Cytomap | 10q11.21 | 10q21.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | 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 | ankyrin-3ankyrin 3, node of Ranvier (ankyrin G) | |
| Modification date | 20180527 | 20180523 | |
| UniProtAcc | P07949 | Q12955 | |
| Ensembl transtripts involved in fusion gene | ENST00000355710, ENST00000340058, | ENST00000280772, ENST00000373827, ENST00000355288, ENST00000503366, ENST00000510382, ENST00000460468, | |
| Fusion gene scores | * DoF score | 3 X 2 X 1=6 | 12 X 16 X 9=1728 |
| # samples | 3 | 18 | |
| ** MAII score | log2(3/6*10)=2.32192809488736 | log2(18/1728*10)=-3.26303440583379 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: RET [Title/Abstract] AND ANK3 [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 | RET | GO:0030155 | regulation of cell adhesion | 21357690 |
| Hgene | RET | GO:0030335 | positive regulation of cell migration | 20702524 |
| Hgene | RET | GO:0033619 | membrane protein proteolysis | 21357690 |
| Hgene | RET | GO:0033630 | positive regulation of cell adhesion mediated by integrin | 20702524 |
| Hgene | RET | GO:0035860 | glial cell-derived neurotrophic factor receptor signaling pathway | 28953886 |
| Hgene | 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-E8-A44M-01A | RET | chr10 | 43604678 | + | ANK3 | chr10 | 61789584 | - |
| * 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 |
| 5CDS-3UTR | ENST00000355710 | ENST00000280772 | RET | chr10 | 43604678 | + | ANK3 | chr10 | 61789584 | - |
| 5CDS-3UTR | ENST00000355710 | ENST00000373827 | RET | chr10 | 43604678 | + | ANK3 | chr10 | 61789584 | - |
| 5CDS-3UTR | ENST00000355710 | ENST00000355288 | RET | chr10 | 43604678 | + | ANK3 | chr10 | 61789584 | - |
| 5CDS-3UTR | ENST00000355710 | ENST00000503366 | RET | chr10 | 43604678 | + | ANK3 | chr10 | 61789584 | - |
| 5CDS-intron | ENST00000355710 | ENST00000510382 | RET | chr10 | 43604678 | + | ANK3 | chr10 | 61789584 | - |
| 5CDS-intron | ENST00000355710 | ENST00000460468 | RET | chr10 | 43604678 | + | ANK3 | chr10 | 61789584 | - |
| 5CDS-3UTR | ENST00000340058 | ENST00000280772 | RET | chr10 | 43604678 | + | ANK3 | chr10 | 61789584 | - |
| 5CDS-3UTR | ENST00000340058 | ENST00000373827 | RET | chr10 | 43604678 | + | ANK3 | chr10 | 61789584 | - |
| 5CDS-3UTR | ENST00000340058 | ENST00000355288 | RET | chr10 | 43604678 | + | ANK3 | chr10 | 61789584 | - |
| 5CDS-3UTR | ENST00000340058 | ENST00000503366 | RET | chr10 | 43604678 | + | ANK3 | chr10 | 61789584 | - |
| 5CDS-intron | ENST00000340058 | ENST00000510382 | RET | chr10 | 43604678 | + | ANK3 | chr10 | 61789584 | - |
| 5CDS-intron | ENST00000340058 | ENST00000460468 | RET | chr10 | 43604678 | + | ANK3 | chr10 | 61789584 | - |
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FusionProtFeatures for RET_ANK3 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| RET | ANK3 |
| 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 |
| - 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 RET_ANK3 |
| 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 RET_ANK3 |
| 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 |
| 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 | ANK3 | KCNC1, SPTBN4, TIAM1, MAPK6, SMAD3, SMAD2, RNF2, DOK4, PALM2, C16orf70, SCN1B, SRPK2, TMEM17, KIF11, PCNA, MCM2, CDH1, CTDSPL, RAPGEF5, CHL1, MAPK8IP1, FEZ1, HIF1AN, UXS1, PWP1, NEXN, LILRB3, PROSER2, ARHGAP22, USP15, SPAG9, MCM4, MCM6, EPS15L1, IVNS1ABP, GTF3C4 |
| - 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 RET_ANK3 |
| 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 | RET | P07949 | DB05294 | Vandetanib | Proto-oncogene tyrosine-protein kinase receptor Ret {ECO:0000305} | small molecule | approved |
| Hgene | RET | P07949 | DB08896 | Regorafenib | Proto-oncogene tyrosine-protein kinase receptor Ret {ECO:0000305} | small molecule | approved |
| Hgene | RET | P07949 | DB00398 | Sorafenib | Proto-oncogene tyrosine-protein kinase receptor Ret {ECO:0000305} | small molecule | approved|investigational |
| Hgene | RET | P07949 | DB08875 | Cabozantinib | Proto-oncogene tyrosine-protein kinase receptor Ret {ECO:0000305} | small molecule | approved|investigational |
| Hgene | RET | P07949 | DB08901 | Ponatinib | Proto-oncogene tyrosine-protein kinase receptor Ret {ECO:0000305} | small molecule | approved|investigational |
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RelatedDiseases for RET_ANK3 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | RET | C3888239 | HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 | 15 | UNIPROT |
| Hgene | RET | C0025268 | Multiple Endocrine Neoplasia Type 2a | 14 | CTD_human;ORPHANET;UNIPROT |
| Hgene | RET | C1833921 | Familial medullary thyroid carcinoma | 14 | CTD_human;ORPHANET;UNIPROT |
| Hgene | RET | C0025269 | Multiple Endocrine Neoplasia Type 2b | 8 | CTD_human;ORPHANET;UNIPROT |
| Hgene | RET | C1275808 | Congenital central hypoventilation | 4 | CTD_human;ORPHANET;UNIPROT |
| Hgene | RET | C0009404 | Colorectal Neoplasms | 2 | CTD_human |
| Hgene | RET | C0019569 | Hirschsprung Disease | 2 | CTD_human;HPO;ORPHANET |
| Hgene | RET | C0006413 | Burkitt Lymphoma | 1 | CTD_human |
| Hgene | RET | C0027662 | Multiple Endocrine Neoplasia | 1 | CTD_human |
| Hgene | RET | C0031511 | Pheochromocytoma | 1 | CTD_human;HPO;UNIPROT |
| Hgene | RET | C0038220 | Status Epilepticus | 1 | CTD_human |
| Hgene | RET | C0040136 | Thyroid Neoplasm | 1 | CTD_human |
| Hgene | RET | C0206693 | Medullary carcinoma | 1 | CTD_human |
| Hgene | RET | C0238462 | Medullary carcinoma of thyroid | 1 | CTD_human;HPO |
| Hgene | RET | C0740340 | Amyloidosis, Familial | 1 | CTD_human |
| Hgene | RET | C1609433 | Congenital absence of kidneys syndrome | 1 | CTD_human;ORPHANET |
| Tgene | ANK3 | C0005586 | Bipolar Disorder | 7 | CTD_human;PSYGENET |
| Tgene | ANK3 | C0036341 | Schizophrenia | 3 | PSYGENET |
| Tgene | ANK3 | C0033975 | Psychotic Disorders | 2 | PSYGENET |
| Tgene | ANK3 | C0525045 | Mood Disorders | 2 | PSYGENET |
| Tgene | ANK3 | C0033300 | Progeria | 1 | CTD_human |
| Tgene | ANK3 | C0038220 | Status Epilepticus | 1 | CTD_human |
| Tgene | ANK3 | C0178417 | Anhedonia | 1 | PSYGENET |
| Tgene | ANK3 | C0349204 | Nonorganic psychosis | 1 | PSYGENET |
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