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Fusion gene ID: 22619 |
FusionGeneSummary for MSH6_TEKT4P2 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: MSH6_TEKT4P2 | Fusion gene ID: 22619 | Hgene | Tgene | Gene symbol | MSH6 | TEKT4P2 | Gene ID | 2956 | 100132288 |
| Gene name | mutS homolog 6 | tektin 4 pseudogene 2 | |
| Synonyms | GTBP|GTMBP|HNPCC5|HSAP|p160 | MAFIPL|TEKT4P | |
| Cytomap | 2p16.3 | 21p11.2 | |
| Type of gene | protein-coding | pseudo | |
| Description | DNA mismatch repair protein Msh6G/T mismatch-binding proteinmutS protein homolog 6mutS-alpha 160 kDa subunitsperm-associated protein | Tektin-4 like protein LOC389833 | |
| Modification date | 20180523 | 20180519 | |
| UniProtAcc | P52701 | ||
| Ensembl transtripts involved in fusion gene | ENST00000607272, ENST00000234420, ENST00000540021, ENST00000538136, | ENST00000416067, | |
| Fusion gene scores | * DoF score | 3 X 5 X 2=30 | 3 X 2 X 2=12 |
| # samples | 5 | 3 | |
| ** MAII score | log2(5/30*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(3/12*10)=1.32192809488736 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: MSH6 [Title/Abstract] AND TEKT4P2 [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 | MSH6 | GO:0006281 | DNA repair | 8942985 |
| Hgene | MSH6 | GO:0006298 | mismatch repair | 10871409|23622243 |
| Hgene | MSH6 | GO:0045910 | negative regulation of DNA recombination | 17715146 |
| Hgene | MSH6 | GO:0051096 | positive regulation of helicase activity | 17715146 |
| 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 | LD | LUSC | TCGA-60-2706-01A | MSH6 | chr2 | 48010632 | + | TEKT4P2 | chr21 | 9966380 | - |
| * 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 |
| intron-5UTR | ENST00000607272 | ENST00000416067 | MSH6 | chr2 | 48010632 | + | TEKT4P2 | chr21 | 9966380 | - |
| 5CDS-5UTR | ENST00000234420 | ENST00000416067 | MSH6 | chr2 | 48010632 | + | TEKT4P2 | chr21 | 9966380 | - |
| intron-5UTR | ENST00000540021 | ENST00000416067 | MSH6 | chr2 | 48010632 | + | TEKT4P2 | chr21 | 9966380 | - |
| intron-5UTR | ENST00000538136 | ENST00000416067 | MSH6 | chr2 | 48010632 | + | TEKT4P2 | chr21 | 9966380 | - |
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FusionProtFeatures for MSH6_TEKT4P2 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| MSH6 | TEKT4P2 |
| Component of the post-replicative DNA mismatch repairsystem (MMR). Heterodimerizes with MSH2 to form MutS alpha, whichbinds to DNA mismatches thereby initiating DNA repair. When bound,MutS alpha bends the DNA helix and shields approximately 20 basepairs, and recognizes single base mismatches and dinucleotideinsertion-deletion loops (IDL) in the DNA. After mismatch binding,forms a ternary complex with the MutL alpha heterodimer, which isthought to be responsible for directing the downstream MMR events,including strand discrimination, excision, and resynthesis. ATPbinding and hydrolysis play a pivotal role in mismatch repairfunctions. The ATPase activity associated with MutS alpharegulates binding similar to a molecular switch: mismatched DNAprovokes ADP-->ATP exchange, resulting in a discernibleconformational transition that converts MutS alpha into a slidingclamp capable of hydrolysis-independent diffusion along the DNAbackbone. This transition is crucial for mismatch repair. MutSalpha may also play a role in DNA homologous recombination repair.Recruited on chromatin in G1 and early S phase via its PWWP domainthat specifically binds trimethylated 'Lys-36' of histone H3(H3K36me3): early recruitment to chromatin to be replicatedallowing a quick identification of mismatch repair to initiate theDNA mismatch repair reaction. {ECO:0000269|PubMed:10078208,ECO:0000269|PubMed:10660545, ECO:0000269|PubMed:15064730,ECO:0000269|PubMed:21120944, ECO:0000269|PubMed:23622243,ECO:0000269|PubMed:9564049, ECO:0000269|PubMed:9822679,ECO:0000269|PubMed:9822680}. | Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}. |
| 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 MSH6_TEKT4P2 |
| 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 MSH6_TEKT4P2 |
| 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 |
| MSH6 | BRCA1, CASP4, MYC, BLM, ATM, MLH1, BARD1, MRE11A, MSH2, NBN, RAD50, RFC1, SMC1A, PCNA, PMS2, AIRE, ATR, TOPBP1, CLSPN, CHEK1, PRKCZ, MORF4L1, EP300, CREBBP, DTL, CHAF1A, SMARCAD1, PMS1, TP53, RAD51, XRCC6, XRCC5, PRKDC, SIRT7, FBXO25, CUL3, SLX4, HUS1, RAD1, RAD9A, MUTYH, MSH3, SUPT16H, CSNK2A1, HDAC11, ATP6V1B2, GANAB, HYOU1, SAMHD1, SUPT5H, POLK, SIRT6, RPS6KB2, UNK, ANKRD17, FEN1, HDGF, POLE, PRDX1, PRDX2, SMC3, RAD21, NTRK1, CEP19, DECR1, H3F3A, STX3, AKR7A2, RUSC2, PARP2, KIAA1191, CHD8, BRINP1, SNW1, CDC5L, RNF126, FAF2, POU5F1, KDM6A, ZNF746, CDC14B, NCL, CYLD, TRIM25, G3BP1, HDAC6, MCM9, HIST1H3A | TEKT4P2 | ARAF |
| - 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 MSH6_TEKT4P2 |
| 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 MSH6_TEKT4P2 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Hgene | MSH6 | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 5 | CTD_human |
| Hgene | MSH6 | C1833477 | COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 | 4 | UNIPROT |
| Hgene | MSH6 | C1527249 | Colorectal Cancer | 3 | UNIPROT |
| Hgene | MSH6 | C0014170 | Endometrial Neoplasms | 1 | CTD_human |
| Hgene | MSH6 | C0152013 | Adenocarcinoma of lung (disorder) | 1 | CTD_human |
| Hgene | MSH6 | C0920269 | Microsatellite Instability | 1 | CTD_human |
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