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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 STAG1 |
Gene summary |
Gene information | Gene symbol | STAG1 | Gene ID | 10274 |
Gene name | stromal antigen 1 | |
Synonyms | MRD47|SA1|SCC3A | |
Cytomap | 3q22.3 | |
Type of gene | protein-coding | |
Description | cohesin subunit SA-1SCC3 homolog 1nuclear protein stromal antigen 1 | |
Modification date | 20200327 | |
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 |
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Gene structures and expression levels for STAG1 |
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 STAG1 |
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_115934 | chr3 | 136340491:136340605:136343832:136344006:136349158:136349363 | 136343832:136344006 |
exon_skip_121630 | chr3 | 136359148:136359296:136363366:136363467:136366943:136367082 | 136363366:136363467 |
exon_skip_123914 | chr3 | 136366943:136367082:136369108:136369282:136377660:136377752 | 136369108:136369282 |
exon_skip_125718 | chr3 | 136357720:136357848:136359148:136359296:136363366:136363467 | 136359148:136359296 |
exon_skip_148919 | chr3 | 136568765:136568861:136586802:136586926:136604309:136604473 | 136586802:136586926 |
exon_skip_154731 | chr3 | 136521213:136521417:136542119:136542195:136568765:136568861 | 136542119:136542195 |
exon_skip_15625 | chr3 | 136417885:136417972:136421093:136421163:136422410:136422613 | 136421093:136421163 |
exon_skip_160631 | chr3 | 136341441:136341551:136343832:136344006:136349158:136349363 | 136343832:136344006 |
exon_skip_186439 | chr3 | 136377660:136377752:136398749:136398829:136417885:136417972 | 136398749:136398829 |
exon_skip_193482 | chr3 | 136340491:136340605:136341441:136341551:136343832:136344006 | 136341441:136341551 |
exon_skip_21488 | chr3 | 136477289:136477412:136500223:136500296:136502628:136502779 | 136500223:136500296 |
exon_skip_226884 | chr3 | 136349158:136349363:136357720:136357848:136359148:136359189 | 136357720:136357848 |
exon_skip_227286 | chr3 | 136338370:136338450:136340491:136340605:136343832:136344006 | 136340491:136340605 |
exon_skip_227353 | chr3 | 136586802:136586926:136591445:136591549:136604309:136604473 | 136591445:136591549 |
exon_skip_250905 | chr3 | 136340503:136340605:136341441:136341551:136343832:136344006 | 136341441:136341551 |
exon_skip_257369 | chr3 | 136338095:136338277:136338370:136338450:136340491:136340605 | 136338370:136338450 |
exon_skip_264390 | chr3 | 136452033:136452147:136464881:136464988:136472413:136472492 | 136464881:136464988 |
exon_skip_264904 | chr3 | 136421093:136421163:136422410:136422613:136422768:136422857 | 136422410:136422613 |
exon_skip_276794 | chr3 | 136604309:136604473:136623146:136623248:136630870:136630981 | 136623146:136623248 |
exon_skip_42331 | chr3 | 136568765:136568861:136586802:136586926:136591445:136591549 | 136586802:136586926 |
exon_skip_56513 | chr3 | 136338370:136338450:136340491:136340605:136341441:136341551 | 136340491:136340605 |
exon_skip_60967 | chr3 | 136502628:136502779:136518248:136518415:136521213:136521417 | 136518248:136518415 |
exon_skip_63431 | chr3 | 136359148:136359296:136363366:136363467:136366943:136367080 | 136363366:136363467 |
exon_skip_63641 | chr3 | 136542119:136542195:136568765:136568861:136604309:136604473 | 136568765:136568861 |
exon_skip_88764 | chr3 | 136369108:136369282:136377660:136377752:136398749:136398829 | 136377660:136377752 |
exon_skip_91272 | chr3 | 136452038:136452147:136464881:136464988:136472413:136472492 | 136464881:136464988 |
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 STAG1 |
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 |
ENST00000383202 | 136421093 | 136421163 | Frame-shift |
ENST00000383202 | 136542119 | 136542195 | Frame-shift |
ENST00000383202 | 136568765 | 136568861 | Frame-shift |
ENST00000383202 | 136623146 | 136623248 | Frame-shift |
ENST00000383202 | 136341441 | 136341551 | In-frame |
ENST00000383202 | 136363366 | 136363467 | In-frame |
ENST00000383202 | 136377660 | 136377752 | In-frame |
ENST00000383202 | 136398749 | 136398829 | In-frame |
ENST00000383202 | 136464881 | 136464988 | 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 |
ENST00000383202 | 136359148 | 136359296 | Frame-shift |
ENST00000383202 | 136369108 | 136369282 | Frame-shift |
ENST00000383202 | 136500223 | 136500296 | Frame-shift |
ENST00000383202 | 136568765 | 136568861 | Frame-shift |
ENST00000383202 | 136623146 | 136623248 | Frame-shift |
ENST00000383202 | 136377660 | 136377752 | In-frame |
ENST00000383202 | 136398749 | 136398829 | In-frame |
ENST00000383202 | 136464881 | 136464988 | 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 |
ENST00000383202 | 136340491 | 136340605 | Frame-shift |
ENST00000383202 | 136343832 | 136344006 | Frame-shift |
ENST00000383202 | 136359148 | 136359296 | Frame-shift |
ENST00000383202 | 136369108 | 136369282 | Frame-shift |
ENST00000383202 | 136421093 | 136421163 | Frame-shift |
ENST00000383202 | 136500223 | 136500296 | Frame-shift |
ENST00000383202 | 136542119 | 136542195 | Frame-shift |
ENST00000383202 | 136568765 | 136568861 | Frame-shift |
ENST00000383202 | 136623146 | 136623248 | Frame-shift |
ENST00000383202 | 136338370 | 136338450 | In-frame |
ENST00000383202 | 136341441 | 136341551 | In-frame |
ENST00000383202 | 136357720 | 136357848 | In-frame |
ENST00000383202 | 136363366 | 136363467 | In-frame |
ENST00000383202 | 136377660 | 136377752 | In-frame |
ENST00000383202 | 136398749 | 136398829 | In-frame |
ENST00000383202 | 136422410 | 136422613 | In-frame |
ENST00000383202 | 136464881 | 136464988 | In-frame |
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Infer the effects of exon skipping event on protein functional features for STAG1 |
p-ENSG00000118007_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 |
ENST00000383202 | 6072 | 1258 | 136464881 | 136464988 | 1463 | 1569 | 402 | 437 |
ENST00000383202 | 6072 | 1258 | 136398749 | 136398829 | 2454 | 2533 | 732 | 758 |
ENST00000383202 | 6072 | 1258 | 136377660 | 136377752 | 2535 | 2626 | 759 | 789 |
ENST00000383202 | 6072 | 1258 | 136363366 | 136363467 | 2943 | 3043 | 895 | 928 |
ENST00000383202 | 6072 | 1258 | 136341441 | 136341551 | 3704 | 3813 | 1149 | 1185 |
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 |
ENST00000383202 | 6072 | 1258 | 136464881 | 136464988 | 1463 | 1569 | 402 | 437 |
ENST00000383202 | 6072 | 1258 | 136398749 | 136398829 | 2454 | 2533 | 732 | 758 |
ENST00000383202 | 6072 | 1258 | 136377660 | 136377752 | 2535 | 2626 | 759 | 789 |
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 |
ENST00000383202 | 6072 | 1258 | 136464881 | 136464988 | 1463 | 1569 | 402 | 437 |
ENST00000383202 | 6072 | 1258 | 136422410 | 136422613 | 2091 | 2293 | 611 | 678 |
ENST00000383202 | 6072 | 1258 | 136398749 | 136398829 | 2454 | 2533 | 732 | 758 |
ENST00000383202 | 6072 | 1258 | 136377660 | 136377752 | 2535 | 2626 | 759 | 789 |
ENST00000383202 | 6072 | 1258 | 136363366 | 136363467 | 2943 | 3043 | 895 | 928 |
ENST00000383202 | 6072 | 1258 | 136357720 | 136357848 | 3194 | 3321 | 979 | 1021 |
ENST00000383202 | 6072 | 1258 | 136341441 | 136341551 | 3704 | 3813 | 1149 | 1185 |
ENST00000383202 | 6072 | 1258 | 136338370 | 136338450 | 3930 | 4009 | 1224 | 1250 |
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 |
Q8WVM7 | 402 | 437 | 1 | 1258 | Chain | ID=PRO_0000120182;Note=Cohesin subunit SA-1 |
Q8WVM7 | 732 | 758 | 1 | 1258 | Chain | ID=PRO_0000120182;Note=Cohesin subunit SA-1 |
Q8WVM7 | 732 | 758 | 756 | 756 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q8WVM7 | 759 | 789 | 1 | 1258 | Chain | ID=PRO_0000120182;Note=Cohesin subunit SA-1 |
Q8WVM7 | 895 | 928 | 1 | 1258 | Chain | ID=PRO_0000120182;Note=Cohesin subunit SA-1 |
Q8WVM7 | 1149 | 1185 | 1150 | 1186 | Alternative sequence | ID=VSP_054496;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8WVM7 | 1149 | 1185 | 1 | 1258 | Chain | ID=PRO_0000120182;Note=Cohesin subunit SA-1 |
Q8WVM7 | 1149 | 1185 | 1161 | 1161 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
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 |
Q8WVM7 | 402 | 437 | 1 | 1258 | Chain | ID=PRO_0000120182;Note=Cohesin subunit SA-1 |
Q8WVM7 | 732 | 758 | 1 | 1258 | Chain | ID=PRO_0000120182;Note=Cohesin subunit SA-1 |
Q8WVM7 | 732 | 758 | 756 | 756 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q8WVM7 | 759 | 789 | 1 | 1258 | Chain | ID=PRO_0000120182;Note=Cohesin subunit SA-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 |
Q8WVM7 | 402 | 437 | 1 | 1258 | Chain | ID=PRO_0000120182;Note=Cohesin subunit SA-1 |
Q8WVM7 | 611 | 678 | 1 | 1258 | Chain | ID=PRO_0000120182;Note=Cohesin subunit SA-1 |
Q8WVM7 | 611 | 678 | 645 | 645 | Sequence conflict | Note=S->N;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q8WVM7 | 732 | 758 | 1 | 1258 | Chain | ID=PRO_0000120182;Note=Cohesin subunit SA-1 |
Q8WVM7 | 732 | 758 | 756 | 756 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
Q8WVM7 | 759 | 789 | 1 | 1258 | Chain | ID=PRO_0000120182;Note=Cohesin subunit SA-1 |
Q8WVM7 | 895 | 928 | 1 | 1258 | Chain | ID=PRO_0000120182;Note=Cohesin subunit SA-1 |
Q8WVM7 | 979 | 1021 | 1 | 1258 | Chain | ID=PRO_0000120182;Note=Cohesin subunit SA-1 |
Q8WVM7 | 979 | 1021 | 979 | 979 | Natural variant | ID=VAR_079494;Note=In MRD47. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28119487;Dbxref=PMID:28119487 |
Q8WVM7 | 1149 | 1185 | 1150 | 1186 | Alternative sequence | ID=VSP_054496;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
Q8WVM7 | 1149 | 1185 | 1 | 1258 | Chain | ID=PRO_0000120182;Note=Cohesin subunit SA-1 |
Q8WVM7 | 1149 | 1185 | 1161 | 1161 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
Q8WVM7 | 1224 | 1250 | 1 | 1258 | Chain | ID=PRO_0000120182;Note=Cohesin subunit SA-1 |
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3'-UTR located exon skipping events that lost miRNA binding sites in STAG1 |
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 STAG1 |
- 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 STAG1 |
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 STAG1 |
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 STAG1 |
Correlated RBP and related information. |
Tissue type | RBP name | Exon skip ID | Correlation coeifficient | P-value |
CB | PCBP1 | exon_skip_276794 | -4.970247e-01 | 2.031858e-10 |
CB | PCBP4 | exon_skip_276794 | 4.347334e-01 | 4.661406e-08 |
CB | HNRNPF | exon_skip_276794 | -4.211016e-01 | 1.333373e-07 |
IFG | CPEB1 | exon_skip_63641 | 4.419352e-01 | 3.946848e-02 |
IFG | KHDRBS2 | exon_skip_276794 | -4.417466e-01 | 1.859995e-02 |
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RelatedDrugs for STAG1 |
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 STAG1 |
Diseases associated with this gene. (DisGeNet 4.0) |
Gene | Disease ID | Disease name | # pubmeds | Source |