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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 SASH1 |
Gene summary |
Gene information | Gene symbol | SASH1 | Gene ID | 23328 |
Gene name | SAM and SH3 domain containing 1 | |
Synonyms | CAPOK|DUH1|SH3D6A|dJ323M4.1 | |
Cytomap | 6q24.3-q25.1 | |
Type of gene | protein-coding | |
Description | SAM and SH3 domain-containing protein 1proline-glutamate repeat-containing 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 |
SASH1 | GO:0000209 | protein polyubiquitination | 23776175 |
SASH1 | GO:0010595 | positive regulation of endothelial cell migration | 23776175 |
SASH1 | GO:1900044 | regulation of protein K63-linked ubiquitination | 23776175 |
SASH1 | GO:1902498 | regulation of protein autoubiquitination | 23776175 |
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Gene structures and expression levels for SASH1 |
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 |
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 SASH1 |
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_130137 | chr6 | 148527453:148527596:148531526:148531661:148532797:148532966 | 148531526:148531661 |
exon_skip_143696 | chr6 | 148468545:148468585:148471417:148471503:148474110:148474222 | 148471417:148471503 |
exon_skip_153111 | chr6 | 148527453:148527596:148531526:148531661:148532797:148532817 | 148531526:148531661 |
exon_skip_88183 | chr6 | 148390134:148390262:148440184:148440234:148440358:148440407 | 148440184:148440234 |
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 SASH1 |
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 |
ENST00000367467 | 148531526 | 148531661 | Frame-shift |
ENST00000367467 | 148440184 | 148440234 | In-frame |
ENST00000367467 | 148471417 | 148471503 | 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 |
ENST00000367467 | 148531526 | 148531661 | Frame-shift |
ENST00000367467 | 148440184 | 148440234 | In-frame |
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 |
ENST00000367467 | 148531526 | 148531661 | Frame-shift |
ENST00000367467 | 148440184 | 148440234 | In-frame |
ENST00000367467 | 148471417 | 148471503 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SASH1 |
p-ENSG00000111961_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 |
ENST00000367467 | 7728 | 1247 | 148440184 | 148440234 | 762 | 811 | 95 | 112 |
ENST00000367467 | 7728 | 1247 | 148471417 | 148471503 | 904 | 989 | 143 | 171 |
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 |
ENST00000367467 | 7728 | 1247 | 148440184 | 148440234 | 762 | 811 | 95 | 112 |
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 |
ENST00000367467 | 7728 | 1247 | 148440184 | 148440234 | 762 | 811 | 95 | 112 |
ENST00000367467 | 7728 | 1247 | 148471417 | 148471503 | 904 | 989 | 143 | 171 |
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 |
O94885 | 95 | 112 | 1 | 1247 | Chain | ID=PRO_0000097597;Note=SAM and SH3 domain-containing protein 1 |
O94885 | 143 | 171 | 1 | 1247 | Chain | ID=PRO_0000097597;Note=SAM and SH3 domain-containing protein 1 |
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 |
O94885 | 95 | 112 | 1 | 1247 | Chain | ID=PRO_0000097597;Note=SAM and SH3 domain-containing protein 1 |
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 |
O94885 | 95 | 112 | 1 | 1247 | Chain | ID=PRO_0000097597;Note=SAM and SH3 domain-containing protein 1 |
O94885 | 143 | 171 | 1 | 1247 | Chain | ID=PRO_0000097597;Note=SAM and SH3 domain-containing protein 1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in SASH1 |
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 SASH1 |
- 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 SASH1 |
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 |
CDR | MSBB | IFG | exon_skip_88183 | -4.292117e-01 | 2.265359e-02 | chr6 | + | 148390134 | 148390262 | 148440184 | 148440234 | 148440358 | 148440407 |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SASH1 |
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 SASH1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
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RelatedDrugs for SASH1 |
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 SASH1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |