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| Open reading frame (ORF) annotation in the exon skipping event |
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| 3'-UTR located exon skipping events lost miRNA binding sites |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
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Gene summary for MSH6 |
 Gene summary |
| Gene information | Gene symbol | MSH6 | Gene ID | 2956 |
| Gene name | mutS homolog 6 | |
| Synonyms | GTBP|GTMBP|HNPCC5|HSAP|p160 | |
| Cytomap | 2p16.3 | |
| Type of gene | protein-coding | |
| Description | DNA mismatch repair protein Msh6G/T mismatch-binding proteinmutS protein homolog 6mutS-alpha 160 kDa subunitsperm-associated protein | |
| Modification date | 20200313 | |
| UniProtAcc | ||
| Context |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| MSH6 | GO:0006281 | DNA repair | 8942985 |
| MSH6 | GO:0006298 | mismatch repair | 10871409|23622243 |
| MSH6 | GO:0045910 | negative regulation of DNA recombination | 17715146 |
| MSH6 | GO:0051096 | positive regulation of helicase activity | 17715146 |
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Gene structures and expression levels for MSH6 |
| Skipped exons in the ROSMAP, MSBB, and Mayo based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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ENSG00000116062
| Differentially expressed gene analysis across multiple brain tissues between AD and control. |
| Tissue type | DEG direction | Base mean exp. | log2FC(AD/control) | P-value | Adj. p-value |
| Differentially expressed isoform analysis across multiple brain tissues between AD and control. |
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| Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
| CB | UP | ENST00000614496.4 | MSH6-212:protein_coding:MSH6 | 1.291914e+02 | 1.405487e+00 | 2.530922e-03 | 1.120426e-02 |
| CB | UP | ENST00000411819.1 | MSH6-202:protein_coding:MSH6 | 5.854801e+00 | 1.398705e+00 | 7.986234e-03 | 2.892383e-02 |
| CB | UP | ENST00000445503.5 | MSH6-204:nonsense_mediated_decay:MSH6 | 7.115651e+01 | 1.523249e+00 | 8.482002e-03 | 3.037035e-02 |
| Landscape of isoform expressions across multiple brain tissues between AD and control. |
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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for MSH6 |
| Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
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| All exon skipping events in AD cohorts. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
| exon_skip_104584 | chr2 | 47806347:47806358:47806452:47806651:47806779:47806945 | 47806452:47806651 |
| exon_skip_148853 | chr2 | 47783128:47783493:47790927:47791123:47795894:47796063 | 47790927:47791123 |
| exon_skip_228804 | chr2 | 47790927:47791123:47795894:47796063:47798611:47798627 | 47795894:47796063 |
| exon_skip_249269 | chr2 | 47795894:47796063:47798611:47801155:47803420:47803628 | 47798611:47801155 |
| exon_skip_253997 | chr2 | 47790927:47791123:47795894:47796063:47798611:47801155 | 47795894:47796063 |
| exon_skip_258573 | chr2 | 47795894:47796063:47798615:47801155:47803420:47803628 | 47798615:47801155 |
| exon_skip_30110 | chr2 | 47790927:47791123:47798611:47801155:47803420:47803628 | 47798611:47801155 |
| exon_skip_58883 | chr2 | 47783405:47783493:47790927:47791123:47795894:47796036 | 47790927:47791123 |
| exon_skip_76424 | chr2 | 47806347:47806358:47806452:47806651:47806779:47806900 | 47806452:47806651 |
| Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control. |
| Exon skipping information | Tissue type | Avg(PSIs) in AD | Avg(PSIs) in control | Difference (PSI) | Adj. p-value |
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Open reading frame (ORF) annotation in the exon skipping event for MSH6 |
| Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000234420 | 47790927 | 47791123 | Frame-shift |
| ENST00000234420 | 47795894 | 47796063 | Frame-shift |
| ENST00000234420 | 47798611 | 47801155 | Frame-shift |
| ENST00000234420 | 47806452 | 47806651 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000234420 | 47795894 | 47796063 | Frame-shift |
| ENST00000234420 | 47806452 | 47806651 | Frame-shift |
| Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000234420 | 47790927 | 47791123 | Frame-shift |
| ENST00000234420 | 47795894 | 47796063 | Frame-shift |
| ENST00000234420 | 47798611 | 47801155 | Frame-shift |
| ENST00000234420 | 47806452 | 47806651 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for MSH6 |
p-ENSG00000116062_img4.png |
| Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| Lost protein functional features of individual exon skipping events in ROSMAP. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in MSBB. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Lost protein functional features of individual exon skipping events in Mayo. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
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3'-UTR located exon skipping events that lost miRNA binding sites in MSH6 |
| 3'-UTR exon skipping evnets lost miRNA binding. |
| Tissue type | ENST | Exon skip start | Exon skip end | microRNA | Binding site by TargetScan | Binding type by TargetScan | Bdinding site by miRanda | Score of miRanda | Energy by miRanda |
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SNVs in the skipped exons for MSH6 |
| - Differential PSIs between mutated versus non-mutated samples. |
| - Depth of Coverage in the skipped exon of the mutated samples. |
| - Sashimi plot in the skipped exon of the mutated samples. |
| - Non-synonymous mutations located in the skipped exons. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
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AD stage-associated exon skippint events for MSH6 |
| Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR). |
| AD stage info | Cohort | Tissue | SE id | Coefficient | P-value | Chromosome | Strand | E1 start | E1 end | Skipped start | Skipped end | E2 start | E2 end |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MSH6 |
| sQTL information located at the skipped exons. |
| Tissue type | Exon skip ID | SNP id | Location | P-value | FDR |
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Correlation with RNA binding proteins (RBPs) for MSH6 |
| Correlated RBP and related information. |
| Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for MSH6 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for MSH6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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