FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 22618

FusionGeneSummary for MSH6_MSH6

check button Fusion gene summary
Fusion gene informationFusion gene name: MSH6_MSH6
Fusion gene ID: 22618
HgeneTgene
Gene symbol

MSH6

MSH6

Gene ID

2956

2956

Gene namemutS homolog 6mutS homolog 6
SynonymsGTBP|GTMBP|HNPCC5|HSAP|p160GTBP|GTMBP|HNPCC5|HSAP|p160
Cytomap

2p16.3

2p16.3

Type of geneprotein-codingprotein-coding
DescriptionDNA mismatch repair protein Msh6G/T mismatch-binding proteinmutS protein homolog 6mutS-alpha 160 kDa subunitsperm-associated proteinDNA mismatch repair protein Msh6G/T mismatch-binding proteinmutS protein homolog 6mutS-alpha 160 kDa subunitsperm-associated protein
Modification date2018052320180523
UniProtAcc

P52701

P52701

Ensembl transtripts involved in fusion geneENST00000607272, ENST00000234420, 
ENST00000540021, ENST00000538136, 
ENST00000607272, ENST00000234420, 
ENST00000540021, ENST00000538136, 
Fusion gene scores* DoF score3 X 5 X 2=302 X 4 X 2=16
# samples 54
** MAII scorelog2(5/30*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(4/16*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MSH6 [Title/Abstract] AND MSH6 [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)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneMSH6

GO:0006281

DNA repair

8942985

HgeneMSH6

GO:0006298

mismatch repair

10871409|23622243

HgeneMSH6

GO:0045910

negative regulation of DNA recombination

17715146

HgeneMSH6

GO:0051096

positive regulation of helicase activity

17715146

TgeneMSH6

GO:0006281

DNA repair

8942985

TgeneMSH6

GO:0006298

mismatch repair

10871409|23622243

TgeneMSH6

GO:0045910

negative regulation of DNA recombination

17715146

TgeneMSH6

GO:0051096

positive regulation of helicase activity

17715146


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS3.1AW875091MSH6chr2

48027303

-MSH6chr2

48027238

+
ChiTaRS3.1AA001996MSH6chr2

48018264

+MSH6chr2

48028979

-
ChiTaRS3.1AW805096MSH6chr2

48028064

-MSH6chr2

48028122

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-intronENST00000607272ENST00000607272MSH6chr2

48027303

-MSH6chr2

48027238

+
intron-intronENST00000607272ENST00000234420MSH6chr2

48027303

-MSH6chr2

48027238

+
intron-intronENST00000607272ENST00000540021MSH6chr2

48027303

-MSH6chr2

48027238

+
intron-intronENST00000607272ENST00000538136MSH6chr2

48027303

-MSH6chr2

48027238

+
5CDS-intronENST00000234420ENST00000607272MSH6chr2

48027303

-MSH6chr2

48027238

+
5CDS-intronENST00000234420ENST00000234420MSH6chr2

48027303

-MSH6chr2

48027238

+
5CDS-intronENST00000234420ENST00000540021MSH6chr2

48027303

-MSH6chr2

48027238

+
5CDS-intronENST00000234420ENST00000538136MSH6chr2

48027303

-MSH6chr2

48027238

+
5CDS-intronENST00000540021ENST00000607272MSH6chr2

48027303

-MSH6chr2

48027238

+
5CDS-intronENST00000540021ENST00000234420MSH6chr2

48027303

-MSH6chr2

48027238

+
5CDS-intronENST00000540021ENST00000540021MSH6chr2

48027303

-MSH6chr2

48027238

+
5CDS-intronENST00000540021ENST00000538136MSH6chr2

48027303

-MSH6chr2

48027238

+
5CDS-intronENST00000538136ENST00000607272MSH6chr2

48027303

-MSH6chr2

48027238

+
5CDS-intronENST00000538136ENST00000234420MSH6chr2

48027303

-MSH6chr2

48027238

+
5CDS-intronENST00000538136ENST00000540021MSH6chr2

48027303

-MSH6chr2

48027238

+
5CDS-intronENST00000538136ENST00000538136MSH6chr2

48027303

-MSH6chr2

48027238

+
intron-intronENST00000607272ENST00000607272MSH6chr2

48018264

+MSH6chr2

48028979

-
intron-intronENST00000607272ENST00000234420MSH6chr2

48018264

+MSH6chr2

48028979

-
intron-intronENST00000607272ENST00000540021MSH6chr2

48018264

+MSH6chr2

48028979

-
intron-intronENST00000607272ENST00000538136MSH6chr2

48018264

+MSH6chr2

48028979

-
5CDS-intronENST00000234420ENST00000607272MSH6chr2

48018264

+MSH6chr2

48028979

-
5CDS-intronENST00000234420ENST00000234420MSH6chr2

48018264

+MSH6chr2

48028979

-
5CDS-intronENST00000234420ENST00000540021MSH6chr2

48018264

+MSH6chr2

48028979

-
5CDS-intronENST00000234420ENST00000538136MSH6chr2

48018264

+MSH6chr2

48028979

-
intron-intronENST00000540021ENST00000607272MSH6chr2

48018264

+MSH6chr2

48028979

-
intron-intronENST00000540021ENST00000234420MSH6chr2

48018264

+MSH6chr2

48028979

-
intron-intronENST00000540021ENST00000540021MSH6chr2

48018264

+MSH6chr2

48028979

-
intron-intronENST00000540021ENST00000538136MSH6chr2

48018264

+MSH6chr2

48028979

-
5UTR-intronENST00000538136ENST00000607272MSH6chr2

48018264

+MSH6chr2

48028979

-
5UTR-intronENST00000538136ENST00000234420MSH6chr2

48018264

+MSH6chr2

48028979

-
5UTR-intronENST00000538136ENST00000540021MSH6chr2

48018264

+MSH6chr2

48028979

-
5UTR-intronENST00000538136ENST00000538136MSH6chr2

48018264

+MSH6chr2

48028979

-
intron-intronENST00000607272ENST00000607272MSH6chr2

48028064

-MSH6chr2

48028122

+
intron-intronENST00000607272ENST00000234420MSH6chr2

48028064

-MSH6chr2

48028122

+
intron-intronENST00000607272ENST00000540021MSH6chr2

48028064

-MSH6chr2

48028122

+
intron-intronENST00000607272ENST00000538136MSH6chr2

48028064

-MSH6chr2

48028122

+
5CDS-intronENST00000234420ENST00000607272MSH6chr2

48028064

-MSH6chr2

48028122

+
5CDS-intronENST00000234420ENST00000234420MSH6chr2

48028064

-MSH6chr2

48028122

+
5CDS-intronENST00000234420ENST00000540021MSH6chr2

48028064

-MSH6chr2

48028122

+
5CDS-intronENST00000234420ENST00000538136MSH6chr2

48028064

-MSH6chr2

48028122

+
5CDS-intronENST00000540021ENST00000607272MSH6chr2

48028064

-MSH6chr2

48028122

+
5CDS-intronENST00000540021ENST00000234420MSH6chr2

48028064

-MSH6chr2

48028122

+
5CDS-intronENST00000540021ENST00000540021MSH6chr2

48028064

-MSH6chr2

48028122

+
5CDS-intronENST00000540021ENST00000538136MSH6chr2

48028064

-MSH6chr2

48028122

+
5CDS-intronENST00000538136ENST00000607272MSH6chr2

48028064

-MSH6chr2

48028122

+
5CDS-intronENST00000538136ENST00000234420MSH6chr2

48028064

-MSH6chr2

48028122

+
5CDS-intronENST00000538136ENST00000540021MSH6chr2

48028064

-MSH6chr2

48028122

+
5CDS-intronENST00000538136ENST00000538136MSH6chr2

48028064

-MSH6chr2

48028122

+

Top

FusionProtFeatures for MSH6_MSH6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MSH6

P52701

MSH6

P52701

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}. 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}.

check buttonRetention 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

download page

.

* 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.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


Top

FusionGeneSequence for MSH6_MSH6


check button 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).

Top

FusionGenePPI for MSH6_MSH6


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

RelatedDrugs for MSH6_MSH6


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for MSH6_MSH6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMSH6C0009405Hereditary Nonpolyposis Colorectal Neoplasms5CTD_human
HgeneMSH6C1833477COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 54UNIPROT
HgeneMSH6C1527249Colorectal Cancer3UNIPROT
HgeneMSH6C0014170Endometrial Neoplasms1CTD_human
HgeneMSH6C0152013Adenocarcinoma of lung (disorder)1CTD_human
HgeneMSH6C0920269Microsatellite Instability1CTD_human
TgeneMSH6C0009405Hereditary Nonpolyposis Colorectal Neoplasms5CTD_human
TgeneMSH6C1833477COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 54UNIPROT
TgeneMSH6C1527249Colorectal Cancer3UNIPROT
TgeneMSH6C0014170Endometrial Neoplasms1CTD_human
TgeneMSH6C0152013Adenocarcinoma of lung (disorder)1CTD_human
TgeneMSH6C0920269Microsatellite Instability1CTD_human