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Open reading frame (ORF) annotation in the exon skipping event | |
3'-UTR located exon skipping events lost miRNA binding sites | |
Splicing Quantitative Trait Loci (sQTLs) in the skipped exons | |
Gene summary for EXO1 |
Gene summary |
Gene information | Gene symbol | EXO1 | Gene ID | 9156 |
Gene name | exonuclease 1 | |
Synonyms | HEX1|hExoI | |
Cytomap | 1q43 | |
Type of gene | protein-coding | |
Description | exonuclease 1rad2 nuclease family member, homolog of S. cerevisiae exonuclease 1 | |
Modification date | 20200313 | |
UniProtAcc | ||
Context | - 30928815(Polymorphisms of the DNA repair gene EXO1 modulate cognitive aging in old adults in a Taiwanese population) |
Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Gene | GO ID | GO term | PubMed ID |
EXO1 | GO:0006298 | mismatch repair | 14636568 |
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Gene structures and expression levels for EXO1 |
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. |
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. |
Tissue type | DEG direction | ENST | Transcript info. | Base mean exp. | log2FC(AD/control) | P-value | Adjc. p-value |
CB | UP | ENST00000587524.1 | REXO1-205:lncRNA:REXO1 | 5.008264e+00 | 1.039344e+00 | 2.568619e-04 | 1.645530e-03 |
TC | UP | ENST00000587524.1 | REXO1-205:lncRNA:REXO1 | 3.395673e+00 | 1.488348e+00 | 9.739574e-06 | 2.540267e-04 |
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 EXO1 |
Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap). |
All exon skipping events in AD cohorts. |
Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_268551 | chr1 | 241848951:241849027:241849109:241849216:241850409:241850586 | 241849109:241849216 |
exon_skip_41092 | chr1 | 241850492:241850586:241852292:241852411:241853358:241853472 | 241852292:241852411 |
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 EXO1 |
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 |
ENST00000348581 | 241852292 | 241852411 | In-frame |
ENST00000366548 | 241852292 | 241852411 | In-frame |
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 |
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 |
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Infer the effects of exon skipping event on protein functional features for EXO1 |
p-ENSG00000174371_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 |
ENST00000348581 | 3209 | 846 | 241852292 | 241852411 | 477 | 595 | 54 | 93 |
ENST00000366548 | 3490 | 846 | 241852292 | 241852411 | 756 | 874 | 54 | 93 |
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 |
Q9UQ84 | 54 | 93 | 72 | 77 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V07 |
Q9UQ84 | 54 | 93 | 72 | 77 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V07 |
Q9UQ84 | 54 | 93 | 1 | 846 | Chain | ID=PRO_0000154039;Note=Exonuclease 1 |
Q9UQ84 | 54 | 93 | 1 | 846 | Chain | ID=PRO_0000154039;Note=Exonuclease 1 |
Q9UQ84 | 54 | 93 | 54 | 68 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V07 |
Q9UQ84 | 54 | 93 | 54 | 68 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V07 |
Q9UQ84 | 54 | 93 | 83 | 85 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V07 |
Q9UQ84 | 54 | 93 | 83 | 85 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V07 |
Q9UQ84 | 54 | 93 | 86 | 107 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V07 |
Q9UQ84 | 54 | 93 | 86 | 107 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5V07 |
Q9UQ84 | 54 | 93 | 78 | 78 | Metal binding | Note=Magnesium 1;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q9UQ84 | 54 | 93 | 78 | 78 | Metal binding | Note=Magnesium 1;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
Q9UQ84 | 54 | 93 | 78 | 78 | Mutagenesis | Note=Abrogates double-stranded DNA exonuclease activity and endonuclease activity against 5'-overhanging flap structures. Also reduces DNA-binding to 5'-overhanging flap structures. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11842105;Dbxre |
Q9UQ84 | 54 | 93 | 78 | 78 | Mutagenesis | Note=Abrogates double-stranded DNA exonuclease activity and endonuclease activity against 5'-overhanging flap structures. Also reduces DNA-binding to 5'-overhanging flap structures. D->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:11842105;Dbxre |
Q9UQ84 | 54 | 93 | 76 | 76 | Natural variant | ID=VAR_024967;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs4149864 |
Q9UQ84 | 54 | 93 | 76 | 76 | Natural variant | ID=VAR_024967;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs4149864 |
Q9UQ84 | 54 | 93 | 93 | 93 | Natural variant | ID=VAR_024968;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs4149865 |
Q9UQ84 | 54 | 93 | 93 | 93 | Natural variant | ID=VAR_024968;Note=R->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.5;Dbxref=dbSNP:rs4149865 |
Q9UQ84 | 54 | 93 | 1 | 99 | Region | Note=N-domain |
Q9UQ84 | 54 | 93 | 1 | 99 | Region | Note=N-domain |
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 EXO1 |
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 EXO1 |
- 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 EXO1 |
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 EXO1 |
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 EXO1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for EXO1 |
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 EXO1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |