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Fusion gene ID: 22605 |
FusionGeneSummary for MSH2_MSH2 |
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Fusion gene information | Fusion gene name: MSH2_MSH2 | Fusion gene ID: 22605 | Hgene | Tgene | Gene symbol | MSH2 | MSH2 | Gene ID | 4436 | 4436 |
Gene name | mutS homolog 2 | mutS homolog 2 | |
Synonyms | COCA1|FCC1|HNPCC|HNPCC1|LCFS2 | COCA1|FCC1|HNPCC|HNPCC1|LCFS2 | |
Cytomap | 2p21-p16.3 | 2p21-p16.3 | |
Type of gene | protein-coding | protein-coding | |
Description | DNA mismatch repair protein Msh2hMSH2mutS homolog 2, colon cancer, nonpolyposis type 1 | DNA mismatch repair protein Msh2hMSH2mutS homolog 2, colon cancer, nonpolyposis type 1 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P43246 | P43246 | |
Ensembl transtripts involved in fusion gene | ENST00000233146, ENST00000543555, ENST00000406134, ENST00000461394, | ENST00000233146, ENST00000543555, ENST00000406134, ENST00000461394, | |
Fusion gene scores | * DoF score | 8 X 6 X 8=384 | 7 X 7 X 3=147 |
# samples | 10 | 8 | |
** MAII score | log2(10/384*10)=-1.94110631094643 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(8/147*10)=-0.877744249949002 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: MSH2 [Title/Abstract] AND MSH2 [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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | MSH2 | GO:0006281 | DNA repair | 8942985 |
Hgene | MSH2 | GO:0006298 | mismatch repair | 7923193|11555625 |
Hgene | MSH2 | GO:0006301 | postreplication repair | 7923193 |
Hgene | MSH2 | GO:0045910 | negative regulation of DNA recombination | 17715146 |
Hgene | MSH2 | GO:0051096 | positive regulation of helicase activity | 17715146 |
Tgene | MSH2 | GO:0006281 | DNA repair | 8942985 |
Tgene | MSH2 | GO:0006298 | mismatch repair | 7923193|11555625 |
Tgene | MSH2 | GO:0006301 | postreplication repair | 7923193 |
Tgene | MSH2 | GO:0045910 | negative regulation of DNA recombination | 17715146 |
Tgene | MSH2 | GO:0051096 | positive regulation of helicase activity | 17715146 |
![]() (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 |
ChiTaRS3.1 | CN338457 | MSH2 | chr2 | 47639680 | - | MSH2 | chr2 | 47641507 | + |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * 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 | ENST00000233146 | ENST00000233146 | MSH2 | chr2 | 47639680 | - | MSH2 | chr2 | 47641507 | + |
In-frame | ENST00000233146 | ENST00000543555 | MSH2 | chr2 | 47639680 | - | MSH2 | chr2 | 47641507 | + |
In-frame | ENST00000233146 | ENST00000406134 | MSH2 | chr2 | 47639680 | - | MSH2 | chr2 | 47641507 | + |
5CDS-intron | ENST00000233146 | ENST00000461394 | MSH2 | chr2 | 47639680 | - | MSH2 | chr2 | 47641507 | + |
In-frame | ENST00000543555 | ENST00000233146 | MSH2 | chr2 | 47639680 | - | MSH2 | chr2 | 47641507 | + |
In-frame | ENST00000543555 | ENST00000543555 | MSH2 | chr2 | 47639680 | - | MSH2 | chr2 | 47641507 | + |
In-frame | ENST00000543555 | ENST00000406134 | MSH2 | chr2 | 47639680 | - | MSH2 | chr2 | 47641507 | + |
5CDS-intron | ENST00000543555 | ENST00000461394 | MSH2 | chr2 | 47639680 | - | MSH2 | chr2 | 47641507 | + |
In-frame | ENST00000406134 | ENST00000233146 | MSH2 | chr2 | 47639680 | - | MSH2 | chr2 | 47641507 | + |
In-frame | ENST00000406134 | ENST00000543555 | MSH2 | chr2 | 47639680 | - | MSH2 | chr2 | 47641507 | + |
In-frame | ENST00000406134 | ENST00000406134 | MSH2 | chr2 | 47639680 | - | MSH2 | chr2 | 47641507 | + |
5CDS-intron | ENST00000406134 | ENST00000461394 | MSH2 | chr2 | 47639680 | - | MSH2 | chr2 | 47641507 | + |
intron-3CDS | ENST00000461394 | ENST00000233146 | MSH2 | chr2 | 47639680 | - | MSH2 | chr2 | 47641507 | + |
intron-3CDS | ENST00000461394 | ENST00000543555 | MSH2 | chr2 | 47639680 | - | MSH2 | chr2 | 47641507 | + |
intron-3CDS | ENST00000461394 | ENST00000406134 | MSH2 | chr2 | 47639680 | - | MSH2 | chr2 | 47641507 | + |
intron-intron | ENST00000461394 | ENST00000461394 | MSH2 | chr2 | 47639680 | - | MSH2 | chr2 | 47641507 | + |
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FusionProtFeatures for MSH2_MSH2 |
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Hgene | Tgene |
MSH2 | MSH2 |
Component of the post-replicative DNA mismatch repairsystem (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) whichbinds to DNA mismatches thereby initiating DNA repair. When bound,heterodimers bend the DNA helix and shields approximately 20 basepairs. MutS alpha recognizes single base mismatches anddinucleotide insertion-deletion loops (IDL) in the DNA. MutS betarecognizes larger insertion-deletion loops up to 13 nucleotideslong. After mismatch binding, MutS alpha or beta forms a ternarycomplex with the MutL alpha heterodimer, which is thought to beresponsible for directing the downstream MMR events, includingstrand discrimination, excision, and resynthesis. ATP binding andhydrolysis play a pivotal role in mismatch repair functions. TheATPase activity associated with MutS alpha regulates bindingsimilar to a molecular switch: mismatched DNA provokes ADP-->ATPexchange, resulting in a discernible conformational transitionthat converts MutS alpha into a sliding clamp capable ofhydrolysis-independent diffusion along the DNA backbone. Thistransition is crucial for mismatch repair. MutS alpha may alsoplay a role in DNA homologous recombination repair. In melanocytesmay modulate both UV-B-induced cell cycle regulation andapoptosis. {ECO:0000269|PubMed:10078208,ECO:0000269|PubMed:10660545, ECO:0000269|PubMed:15064730,ECO:0000269|PubMed:17611581, ECO:0000269|PubMed:21120944,ECO:0000269|PubMed:9564049, ECO:0000269|PubMed:9822679,ECO:0000269|PubMed:9822680}. | Component of the post-replicative DNA mismatch repairsystem (MMR). Forms two different heterodimers: MutS alpha (MSH2-MSH6 heterodimer) and MutS beta (MSH2-MSH3 heterodimer) whichbinds to DNA mismatches thereby initiating DNA repair. When bound,heterodimers bend the DNA helix and shields approximately 20 basepairs. MutS alpha recognizes single base mismatches anddinucleotide insertion-deletion loops (IDL) in the DNA. MutS betarecognizes larger insertion-deletion loops up to 13 nucleotideslong. After mismatch binding, MutS alpha or beta forms a ternarycomplex with the MutL alpha heterodimer, which is thought to beresponsible for directing the downstream MMR events, includingstrand discrimination, excision, and resynthesis. ATP binding andhydrolysis play a pivotal role in mismatch repair functions. TheATPase activity associated with MutS alpha regulates bindingsimilar to a molecular switch: mismatched DNA provokes ADP-->ATPexchange, resulting in a discernible conformational transitionthat converts MutS alpha into a sliding clamp capable ofhydrolysis-independent diffusion along the DNA backbone. Thistransition is crucial for mismatch repair. MutS alpha may alsoplay a role in DNA homologous recombination repair. In melanocytesmay modulate both UV-B-induced cell cycle regulation andapoptosis. {ECO:0000269|PubMed:10078208,ECO:0000269|PubMed:10660545, ECO:0000269|PubMed:15064730,ECO:0000269|PubMed:17611581, ECO:0000269|PubMed:21120944,ECO:0000269|PubMed:9564049, ECO:0000269|PubMed:9822679,ECO:0000269|PubMed:9822680}. |
![]() * 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 MSH2_MSH2 |
![]() (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 MSH2_MSH2 |
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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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RelatedDrugs for MSH2_MSH2 |
![]() (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 MSH2_MSH2 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | MSH2 | C2936783 | Colorectal cancer, hereditary nonpolyposis, type 1 | 48 | UNIPROT |
Hgene | MSH2 | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 4 | CTD_human |
Hgene | MSH2 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Hgene | MSH2 | C0919267 | ovarian neoplasm | 1 | CTD_human |
Hgene | MSH2 | C2931459 | Lynch syndrome I (site-specific colonic cancer) | 1 | CTD_human |
Tgene | MSH2 | C2936783 | Colorectal cancer, hereditary nonpolyposis, type 1 | 48 | UNIPROT |
Tgene | MSH2 | C0009405 | Hereditary Nonpolyposis Colorectal Neoplasms | 4 | CTD_human |
Tgene | MSH2 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Tgene | MSH2 | C0919267 | ovarian neoplasm | 1 | CTD_human |
Tgene | MSH2 | C2931459 | Lynch syndrome I (site-specific colonic cancer) | 1 | CTD_human |