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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for STAG2 |
 Gene summary |
| Gene information | Gene symbol | STAG2 | Gene ID | 10735 |
| Gene name | stromal antigen 2 | |
| Synonyms | SA-2|SA2|SCC3B|bA517O1.1 | |
| Cytomap | Xq25 | |
| Type of gene | protein-coding | |
| Description | cohesin subunit SA-2SCC3 homolog 2 | |
| Modification date | 20180522 | |
| UniProtAcc | Q8N3U4 | |
| Context | PubMed: STAG2 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| 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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Exon skipping events across known transcript of Ensembl for STAG2 from UCSC genome browser |
| Skipped exons in TCGA and GTEx 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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Gene isoform structures and expression levels for STAG2 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for STAG2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_512283 | X | 123094671:123094716:123155216:123155281:123156380:123156401 | 123155216:123155281 | ENSG00000101972.14 | ENST00000218089.9 |
| exon_skip_512288 | X | 123095167:123095285:123095635:123095706:123156380:123156401 | 123095635:123095706 | ENSG00000101972.14 | ENST00000371160.1 |
| exon_skip_512289 | X | 123095167:123095285:123155216:123155281:123156380:123156401 | 123155216:123155281 | ENSG00000101972.14 | ENST00000435103.1 |
| exon_skip_512291 | X | 123095672:123095706:123095928:123095956:123156380:123156401 | 123095928:123095956 | ENSG00000101972.14 | ENST00000471107.1 |
| exon_skip_512292 | X | 123095672:123095706:123155216:123155281:123156380:123156401 | 123155216:123155281 | ENSG00000101972.14 | ENST00000371144.3,ENST00000371145.3 |
| exon_skip_512293 | X | 123095943:123095956:123155216:123155281:123156380:123156401 | 123155216:123155281 | ENSG00000101972.14 | ENST00000435215.1 |
| exon_skip_512296 | X | 123156380:123156521:123159689:123159768:123164810:123164898 | 123159689:123159768 | ENSG00000101972.14 | ENST00000371144.3,ENST00000428941.1,ENST00000435103.1,ENST00000371160.1,ENST00000371145.3,ENST00000394477.1,ENST00000354548.5,ENST00000218089.9,ENST00000371157.3,ENST00000455404.1,ENST00000435215.1,ENST00000394478.1 |
| exon_skip_512299 | X | 123159689:123159768:123160414:123160537:123164810:123164898 | 123160414:123160537 | ENSG00000101972.14 | ENST00000458176.1 |
| exon_skip_512301 | X | 123164810:123164975:123171376:123171473:123176418:123176495 | 123171376:123171473 | ENSG00000101972.14 | ENST00000371144.3,ENST00000428941.1,ENST00000435103.1,ENST00000371160.1,ENST00000371145.3,ENST00000458176.1,ENST00000354548.5,ENST00000218089.9,ENST00000371157.3,ENST00000455404.1,ENST00000435215.1 |
| exon_skip_512303 | X | 123171376:123171473:123176418:123176495:123179013:123179058 | 123176418:123176495 | ENSG00000101972.14 | ENST00000371144.3,ENST00000428941.1,ENST00000371160.1,ENST00000371145.3,ENST00000458176.1,ENST00000354548.5,ENST00000218089.9,ENST00000371157.3,ENST00000455404.1,ENST00000435215.1 |
| exon_skip_512306 | X | 123185164:123185244:123189977:123190085:123191715:123191827 | 123189977:123190085 | ENSG00000101972.14 | ENST00000371144.3,ENST00000371160.1,ENST00000371145.3,ENST00000354548.5,ENST00000218089.9,ENST00000371157.3,ENST00000455404.1 |
| exon_skip_512308 | X | 123202413:123202506:123204998:123205173:123210181:123210321 | 123204998:123205173 | ENSG00000101972.14 | ENST00000371144.3,ENST00000371160.1,ENST00000371145.3,ENST00000354548.5,ENST00000218089.9,ENST00000371157.3 |
| exon_skip_512309 | X | 123210181:123210321:123211806:123211908:123215229:123215378 | 123211806:123211908 | ENSG00000101972.14 | ENST00000371144.3,ENST00000371160.1,ENST00000371145.3,ENST00000354548.5,ENST00000218089.9,ENST00000371157.3 |
| exon_skip_512310 | X | 123211806:123211908:123215229:123215378:123217270:123217399 | 123215229:123215378 | ENSG00000101972.14 | ENST00000371144.3,ENST00000371160.1,ENST00000371145.3,ENST00000354548.5,ENST00000218089.9,ENST00000371157.3 |
| exon_skip_512312 | X | 123215229:123215378:123217270:123217399:123220396:123220620 | 123217270:123217399 | ENSG00000101972.14 | ENST00000371144.3,ENST00000371160.1,ENST00000371145.3,ENST00000354548.5,ENST00000218089.9,ENST00000371157.3 |
| exon_skip_512313 | X | 123224498:123224614:123224703:123224814:123227867:123227994 | 123224703:123224814 | ENSG00000101972.14 | ENST00000371145.3,ENST00000218089.9 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for STAG2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_512283 | X | 123094671:123094716:123155216:123155281:123156380:123156401 | 123155216:123155281 | ENSG00000101972.14 | ENST00000218089.9 |
| exon_skip_512288 | X | 123095167:123095285:123095635:123095706:123156380:123156401 | 123095635:123095706 | ENSG00000101972.14 | ENST00000371160.1 |
| exon_skip_512289 | X | 123095167:123095285:123155216:123155281:123156380:123156401 | 123155216:123155281 | ENSG00000101972.14 | ENST00000435103.1 |
| exon_skip_512291 | X | 123095672:123095706:123095928:123095956:123156380:123156401 | 123095928:123095956 | ENSG00000101972.14 | ENST00000471107.1 |
| exon_skip_512292 | X | 123095672:123095706:123155216:123155281:123156380:123156401 | 123155216:123155281 | ENSG00000101972.14 | ENST00000371145.3,ENST00000371144.3 |
| exon_skip_512293 | X | 123095943:123095956:123155216:123155281:123156380:123156401 | 123155216:123155281 | ENSG00000101972.14 | ENST00000435215.1 |
| exon_skip_512296 | X | 123156380:123156521:123159689:123159768:123164810:123164898 | 123159689:123159768 | ENSG00000101972.14 | ENST00000394477.1,ENST00000455404.1,ENST00000218089.9,ENST00000354548.5,ENST00000371160.1,ENST00000435103.1,ENST00000371157.3,ENST00000371145.3,ENST00000371144.3,ENST00000428941.1,ENST00000435215.1,ENST00000394478.1 |
| exon_skip_512299 | X | 123159689:123159768:123160414:123160537:123164810:123164898 | 123160414:123160537 | ENSG00000101972.14 | ENST00000458176.1 |
| exon_skip_512301 | X | 123164810:123164975:123171376:123171473:123176418:123176495 | 123171376:123171473 | ENSG00000101972.14 | ENST00000455404.1,ENST00000218089.9,ENST00000354548.5,ENST00000371160.1,ENST00000435103.1,ENST00000371157.3,ENST00000371145.3,ENST00000458176.1,ENST00000371144.3,ENST00000428941.1,ENST00000435215.1 |
| exon_skip_512303 | X | 123171376:123171473:123176418:123176495:123179013:123179058 | 123176418:123176495 | ENSG00000101972.14 | ENST00000455404.1,ENST00000218089.9,ENST00000354548.5,ENST00000371160.1,ENST00000371157.3,ENST00000371145.3,ENST00000458176.1,ENST00000371144.3,ENST00000428941.1,ENST00000435215.1 |
| exon_skip_512306 | X | 123185164:123185244:123189977:123190085:123191715:123191827 | 123189977:123190085 | ENSG00000101972.14 | ENST00000455404.1,ENST00000218089.9,ENST00000354548.5,ENST00000371160.1,ENST00000371157.3,ENST00000371145.3,ENST00000371144.3 |
| exon_skip_512308 | X | 123202413:123202506:123204998:123205173:123210181:123210321 | 123204998:123205173 | ENSG00000101972.14 | ENST00000218089.9,ENST00000354548.5,ENST00000371160.1,ENST00000371157.3,ENST00000371145.3,ENST00000371144.3 |
| exon_skip_512309 | X | 123210181:123210321:123211806:123211908:123215229:123215378 | 123211806:123211908 | ENSG00000101972.14 | ENST00000218089.9,ENST00000354548.5,ENST00000371160.1,ENST00000371157.3,ENST00000371145.3,ENST00000371144.3 |
| exon_skip_512310 | X | 123211806:123211908:123215229:123215378:123217270:123217399 | 123215229:123215378 | ENSG00000101972.14 | ENST00000218089.9,ENST00000354548.5,ENST00000371160.1,ENST00000371157.3,ENST00000371145.3,ENST00000371144.3 |
| exon_skip_512312 | X | 123215229:123215378:123217270:123217399:123220396:123220620 | 123217270:123217399 | ENSG00000101972.14 | ENST00000218089.9,ENST00000354548.5,ENST00000371160.1,ENST00000371157.3,ENST00000371145.3,ENST00000371144.3 |
| exon_skip_512313 | X | 123224498:123224614:123224703:123224814:123227867:123227994 | 123224703:123224814 | ENSG00000101972.14 | ENST00000218089.9,ENST00000371145.3 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for STAG2 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000371160 | 123095635 | 123095706 | 5UTR-5UTR |
| ENST00000371144 | 123155216 | 123155281 | 5UTR-5UTR |
| ENST00000371144 | 123159689 | 123159768 | Frame-shift |
| ENST00000371157 | 123159689 | 123159768 | Frame-shift |
| ENST00000371160 | 123159689 | 123159768 | Frame-shift |
| ENST00000371144 | 123171376 | 123171473 | Frame-shift |
| ENST00000371157 | 123171376 | 123171473 | Frame-shift |
| ENST00000371160 | 123171376 | 123171473 | Frame-shift |
| ENST00000371144 | 123176418 | 123176495 | Frame-shift |
| ENST00000371157 | 123176418 | 123176495 | Frame-shift |
| ENST00000371160 | 123176418 | 123176495 | Frame-shift |
| ENST00000371144 | 123204998 | 123205173 | Frame-shift |
| ENST00000371157 | 123204998 | 123205173 | Frame-shift |
| ENST00000371160 | 123204998 | 123205173 | Frame-shift |
| ENST00000371144 | 123215229 | 123215378 | Frame-shift |
| ENST00000371157 | 123215229 | 123215378 | Frame-shift |
| ENST00000371160 | 123215229 | 123215378 | Frame-shift |
| ENST00000371144 | 123189977 | 123190085 | In-frame |
| ENST00000371157 | 123189977 | 123190085 | In-frame |
| ENST00000371160 | 123189977 | 123190085 | In-frame |
| ENST00000371144 | 123211806 | 123211908 | In-frame |
| ENST00000371157 | 123211806 | 123211908 | In-frame |
| ENST00000371160 | 123211806 | 123211908 | In-frame |
| ENST00000371144 | 123217270 | 123217399 | In-frame |
| ENST00000371157 | 123217270 | 123217399 | In-frame |
| ENST00000371160 | 123217270 | 123217399 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000371160 | 123095635 | 123095706 | 5UTR-5UTR |
| ENST00000371144 | 123155216 | 123155281 | 5UTR-5UTR |
| ENST00000371144 | 123159689 | 123159768 | Frame-shift |
| ENST00000371157 | 123159689 | 123159768 | Frame-shift |
| ENST00000371160 | 123159689 | 123159768 | Frame-shift |
| ENST00000371144 | 123171376 | 123171473 | Frame-shift |
| ENST00000371157 | 123171376 | 123171473 | Frame-shift |
| ENST00000371160 | 123171376 | 123171473 | Frame-shift |
| ENST00000371144 | 123176418 | 123176495 | Frame-shift |
| ENST00000371157 | 123176418 | 123176495 | Frame-shift |
| ENST00000371160 | 123176418 | 123176495 | Frame-shift |
| ENST00000371144 | 123204998 | 123205173 | Frame-shift |
| ENST00000371157 | 123204998 | 123205173 | Frame-shift |
| ENST00000371160 | 123204998 | 123205173 | Frame-shift |
| ENST00000371144 | 123215229 | 123215378 | Frame-shift |
| ENST00000371157 | 123215229 | 123215378 | Frame-shift |
| ENST00000371160 | 123215229 | 123215378 | Frame-shift |
| ENST00000371144 | 123189977 | 123190085 | In-frame |
| ENST00000371157 | 123189977 | 123190085 | In-frame |
| ENST00000371160 | 123189977 | 123190085 | In-frame |
| ENST00000371144 | 123211806 | 123211908 | In-frame |
| ENST00000371157 | 123211806 | 123211908 | In-frame |
| ENST00000371160 | 123211806 | 123211908 | In-frame |
| ENST00000371144 | 123217270 | 123217399 | In-frame |
| ENST00000371157 | 123217270 | 123217399 | In-frame |
| ENST00000371160 | 123217270 | 123217399 | In-frame |
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Infer the effects of exon skipping event on protein functional features for STAG2 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA 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 |
| ENST00000371144 | 4298 | 1231 | 123189977 | 123190085 | 1477 | 1584 | 399 | 434 |
| ENST00000371157 | 6008 | 1231 | 123189977 | 123190085 | 1433 | 1540 | 399 | 434 |
| ENST00000371160 | 6062 | 1231 | 123189977 | 123190085 | 1487 | 1594 | 399 | 434 |
| ENST00000371144 | 4298 | 1231 | 123211806 | 123211908 | 2954 | 3055 | 891 | 925 |
| ENST00000371157 | 6008 | 1231 | 123211806 | 123211908 | 2910 | 3011 | 891 | 925 |
| ENST00000371160 | 6062 | 1231 | 123211806 | 123211908 | 2964 | 3065 | 891 | 925 |
| ENST00000371144 | 4298 | 1231 | 123217270 | 123217399 | 3205 | 3333 | 975 | 1017 |
| ENST00000371157 | 6008 | 1231 | 123217270 | 123217399 | 3161 | 3289 | 975 | 1017 |
| ENST00000371160 | 6062 | 1231 | 123217270 | 123217399 | 3215 | 3343 | 975 | 1017 |
| Loci of skipped exons in GTEx 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 |
| ENST00000371144 | 4298 | 1231 | 123189977 | 123190085 | 1477 | 1584 | 399 | 434 |
| ENST00000371157 | 6008 | 1231 | 123189977 | 123190085 | 1433 | 1540 | 399 | 434 |
| ENST00000371160 | 6062 | 1231 | 123189977 | 123190085 | 1487 | 1594 | 399 | 434 |
| ENST00000371144 | 4298 | 1231 | 123211806 | 123211908 | 2954 | 3055 | 891 | 925 |
| ENST00000371157 | 6008 | 1231 | 123211806 | 123211908 | 2910 | 3011 | 891 | 925 |
| ENST00000371160 | 6062 | 1231 | 123211806 | 123211908 | 2964 | 3065 | 891 | 925 |
| ENST00000371144 | 4298 | 1231 | 123217270 | 123217399 | 3205 | 3333 | 975 | 1017 |
| ENST00000371157 | 6008 | 1231 | 123217270 | 123217399 | 3161 | 3289 | 975 | 1017 |
| ENST00000371160 | 6062 | 1231 | 123217270 | 123217399 | 3215 | 3343 | 975 | 1017 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| 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 |
| Q8N3U4 | 399 | 434 | 402 | 404 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 402 | 404 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 402 | 404 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 419 | 421 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 419 | 421 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 419 | 421 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 399 | 434 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 399 | 434 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 399 | 434 | 384 | 400 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 384 | 400 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 384 | 400 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 407 | 415 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 407 | 415 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 407 | 415 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 416 | 418 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 416 | 418 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 416 | 418 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 422 | 436 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 422 | 436 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 422 | 436 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 891 | 925 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 891 | 925 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 891 | 925 | 893 | 908 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 893 | 908 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 893 | 908 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 912 | 934 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 912 | 934 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 912 | 934 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 887 | 892 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 887 | 892 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 887 | 892 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 982 | 984 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJU |
| Q8N3U4 | 975 | 1017 | 982 | 984 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJU |
| Q8N3U4 | 975 | 1017 | 982 | 984 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJU |
| Q8N3U4 | 975 | 1017 | 987 | 989 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 987 | 989 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 987 | 989 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 975 | 1017 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 975 | 1017 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 975 | 1017 | 968 | 981 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 968 | 981 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 968 | 981 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 995 | 998 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PK7 |
| Q8N3U4 | 975 | 1017 | 995 | 998 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PK7 |
| Q8N3U4 | 975 | 1017 | 995 | 998 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PK7 |
| Q8N3U4 | 975 | 1017 | 999 | 1003 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 999 | 1003 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 999 | 1003 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 1012 | 1022 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 1012 | 1022 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 1012 | 1022 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 992 | 992 | Sequence conflict | Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N3U4 | 975 | 1017 | 992 | 992 | Sequence conflict | Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N3U4 | 975 | 1017 | 992 | 992 | Sequence conflict | Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N3U4 | 975 | 1017 | 1004 | 1009 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 1004 | 1009 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 1004 | 1009 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Lost protein functional features of individual exon skipping events in GTEx. |
| 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 |
| Q8N3U4 | 399 | 434 | 402 | 404 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 402 | 404 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 402 | 404 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 419 | 421 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 419 | 421 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 419 | 421 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 399 | 434 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 399 | 434 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 399 | 434 | 384 | 400 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 384 | 400 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 384 | 400 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 407 | 415 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 407 | 415 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 407 | 415 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 416 | 418 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 416 | 418 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 416 | 418 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 422 | 436 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 422 | 436 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 399 | 434 | 422 | 436 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 891 | 925 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 891 | 925 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 891 | 925 | 893 | 908 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 893 | 908 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 893 | 908 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 912 | 934 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 912 | 934 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 912 | 934 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 887 | 892 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 887 | 892 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 891 | 925 | 887 | 892 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 982 | 984 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJU |
| Q8N3U4 | 975 | 1017 | 982 | 984 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJU |
| Q8N3U4 | 975 | 1017 | 982 | 984 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJU |
| Q8N3U4 | 975 | 1017 | 987 | 989 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 987 | 989 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 987 | 989 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 975 | 1017 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 975 | 1017 | 1 | 1231 | Chain | ID=PRO_0000120185;Note=Cohesin subunit SA-2 |
| Q8N3U4 | 975 | 1017 | 968 | 981 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 968 | 981 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 968 | 981 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 995 | 998 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PK7 |
| Q8N3U4 | 975 | 1017 | 995 | 998 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PK7 |
| Q8N3U4 | 975 | 1017 | 995 | 998 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PK7 |
| Q8N3U4 | 975 | 1017 | 999 | 1003 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 999 | 1003 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 999 | 1003 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 1012 | 1022 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 1012 | 1022 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 1012 | 1022 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 992 | 992 | Sequence conflict | Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N3U4 | 975 | 1017 | 992 | 992 | Sequence conflict | Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N3U4 | 975 | 1017 | 992 | 992 | Sequence conflict | Note=H->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q8N3U4 | 975 | 1017 | 1004 | 1009 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 1004 | 1009 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
| Q8N3U4 | 975 | 1017 | 1004 | 1009 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4PJW |
Top |
SNVs in the skipped exons for STAG2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - Differential PSIs between mutated versus non-mutated samples. |
STAG2_GBM_exon_skip_512303_psi_boxplot.png |
STAG2_KIRP_exon_skip_512303_psi_boxplot.png |
STAG2_STAD_exon_skip_512303_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_512296 | 123159690 | 123159768 | 123159741 | 123159741 | Frame_Shift_Del | A | - | p.G32fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_512296 | 123159690 | 123159768 | 123159741 | 123159741 | Frame_Shift_Del | A | - | p.G32fs |
| BLCA | TCGA-DK-A3X2-01 | exon_skip_512301 | 123171377 | 123171473 | 123171389 | 123171390 | Frame_Shift_Del | GA | - | p.D101fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_512301 | 123171377 | 123171473 | 123171470 | 123171470 | Frame_Shift_Del | A | - | p.K128fs |
| GBM | TCGA-12-0692-01 | exon_skip_512303 | 123176419 | 123176495 | 123176479 | 123176479 | Frame_Shift_Del | C | - | p.T149fs |
| BLCA | TCGA-H4-A2HQ-01 | exon_skip_512306 | 123189978 | 123190085 | 123189994 | 123189994 | Frame_Shift_Del | C | - | p.L405fs |
| KIRP | TCGA-GL-A4EM-01 | exon_skip_512306 | 123189978 | 123190085 | 123190070 | 123190070 | Frame_Shift_Del | A | - | p.E430fs |
| GBM | TCGA-06-0749-01 | exon_skip_512308 | 123204999 | 123205173 | 123205046 | 123205047 | Frame_Shift_Del | TA | - | p.I802fs |
| KIRP | TCGA-A4-8098-01 | exon_skip_512309 | 123211807 | 123211908 | 123211859 | 123211862 | Frame_Shift_Del | AGAT | - | p.909_910del |
| KIRP | TCGA-A4-8098-01 | exon_skip_512309 | 123211807 | 123211908 | 123211859 | 123211862 | Frame_Shift_Del | AGAT | - | p.Q909fs |
| KIRP | TCGA-A4-8098-01 | exon_skip_512309 | 123211807 | 123211908 | 123211859 | 123211862 | Frame_Shift_Del | AGAT | - | p.QI909fs |
| PCPG | TCGA-P7-A5NX-01 | exon_skip_512310 | 123215230 | 123215378 | 123215265 | 123215265 | Frame_Shift_Del | T | - | p.N937fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_512310 | 123215230 | 123215378 | 123215328 | 123215328 | Frame_Shift_Del | T | - | p.T958fs |
| BLCA | TCGA-CF-A5U8-01 | exon_skip_512312 | 123217271 | 123217399 | 123217301 | 123217302 | Frame_Shift_Del | TA | - | p.N986fs |
| KIRC | TCGA-A3-3317-01 | exon_skip_512312 | 123217271 | 123217399 | 123217328 | 123217328 | Frame_Shift_Del | T | - | p.P994fs |
| COAD | TCGA-A6-5662-01 | exon_skip_512312 | 123217271 | 123217399 | 123217389 | 123217389 | Frame_Shift_Del | A | - | p.D1014fs |
| SKCM | TCGA-EE-A29T-06 | exon_skip_512301 | 123171377 | 123171473 | 123171393 | 123171394 | Frame_Shift_Ins | - | GATA | p.Y102fs |
| PCPG | TCGA-RT-A6Y9-01 | exon_skip_512301 | 123171377 | 123171473 | 123171406 | 123171407 | Frame_Shift_Ins | - | A | p.A107fs |
| GBM | TCGA-14-0789-01 | exon_skip_512303 | 123176419 | 123176495 | 123176470 | 123176471 | Frame_Shift_Ins | - | A | p.R146fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_512303 | 123176419 | 123176495 | 123176474 | 123176475 | Frame_Shift_Ins | - | G | p.K147fs |
| STAD | TCGA-BR-A4QL-01 | exon_skip_512303 | 123176419 | 123176495 | 123176475 | 123176476 | Frame_Shift_Ins | - | G | p.K147fs |
| BLCA | TCGA-DK-A1AA-01 | exon_skip_512309 | 123211807 | 123211908 | 123211880 | 123211881 | Frame_Shift_Ins | - | T | p.A916fs |
| BLCA | TCGA-DK-A1AA-01 | exon_skip_512309 | 123211807 | 123211908 | 123211880 | 123211881 | Frame_Shift_Ins | - | T | p.K917fs |
| GBM | TCGA-81-5910-01 | exon_skip_512301 | 123171377 | 123171473 | 123171416 | 123171416 | Nonsense_Mutation | C | T | p.R110* |
| SARC | TCGA-QQ-A8VF-01 | exon_skip_512301 | 123171377 | 123171473 | 123171416 | 123171416 | Nonsense_Mutation | C | T | p.R110* |
| STAD | TCGA-BR-6452-01 | exon_skip_512301 | 123171377 | 123171473 | 123171416 | 123171416 | Nonsense_Mutation | C | T | p.R110* |
| BLCA | TCGA-E7-A5KF-01 | exon_skip_512301 | 123171377 | 123171473 | 123171455 | 123171455 | Nonsense_Mutation | C | T | p.Q123* |
| KIRP | TCGA-B3-4104-01 | exon_skip_512303 | 123176419 | 123176495 | 123176469 | 123176469 | Nonsense_Mutation | C | T | p.R146* |
| KIRP | TCGA-B3-4104-01 | exon_skip_512303 | 123176419 | 123176495 | 123176469 | 123176469 | Nonsense_Mutation | C | T | p.R146X |
| UCEC | TCGA-A5-A0GP-01 | exon_skip_512303 | 123176419 | 123176495 | 123176469 | 123176469 | Nonsense_Mutation | C | T | p.R146* |
| GBM | TCGA-06-6388-01 | exon_skip_512308 | 123204999 | 123205173 | 123205085 | 123205085 | Nonsense_Mutation | T | A | p.Y815* |
| KIRP | TCGA-4A-A93X-01 | exon_skip_512308 | 123204999 | 123205173 | 123205104 | 123205104 | Nonsense_Mutation | C | T | p.Q822X |
| BLCA | TCGA-YC-A8S6-01 | exon_skip_512309 | 123211807 | 123211908 | 123211873 | 123211873 | Nonsense_Mutation | C | T | p.Q914* |
| UCEC | TCGA-BS-A0TC-01 | exon_skip_512310 | 123215230 | 123215378 | 123215302 | 123215302 | Nonsense_Mutation | G | T | p.E950* |
| UCEC | TCGA-A5-A0GP-01 | exon_skip_512310 | 123215230 | 123215378 | 123215311 | 123215311 | Nonsense_Mutation | C | T | p.R953* |
| BLCA | TCGA-E7-A7DU-01 | exon_skip_512310 | 123215230 | 123215378 | 123215341 | 123215341 | Nonsense_Mutation | C | T | p.Q963* |
| BLCA | TCGA-CF-A3MI-01 | exon_skip_512312 | 123217271 | 123217399 | 123217380 | 123217380 | Nonsense_Mutation | C | T | p.R1012* |
| BLCA | TCGA-XF-A9SI-01 | exon_skip_512312 | 123217271 | 123217399 | 123217380 | 123217380 | Nonsense_Mutation | C | T | p.R1012* |
| GBM | TCGA-12-0821-01 | exon_skip_512303 | 123176419 | 123176495 | 123176497 | 123176497 | Splice_Site | T | C | p.E154_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-12-0821-01 |
| Cancer type: GBM | |
| ESID: exon_skip_512303 | |
| Skipped exon start: 123176419 | |
| Skipped exon end: 123176495 | |
| Mutation start: 123176497 | |
| Mutation end: 123176497 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: C | |
| AAchange: p.E154_splice | |
exon_skip_512303_GBM_TCGA-12-0821-01.png | |
| - 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 |
| ES5_BONE | 123176419 | 123176495 | 123176476 | 123176479 | Frame_Shift_Del | TGAC | - | p.MT148fs |
| YKG1_CENTRAL_NERVOUS_SYSTEM | 123176419 | 123176495 | 123176476 | 123176479 | Frame_Shift_Del | TGAC | - | p.MT148fs |
| COGE352_BONE | 123204999 | 123205173 | 123205012 | 123205013 | Frame_Shift_Del | TG | - | p.L791fs |
| EW11_BONE | 123215230 | 123215378 | 123215328 | 123215328 | Frame_Shift_Del | T | - | p.T958fs |
| UMUC3_URINARY_TRACT | 123217271 | 123217399 | 123217293 | 123217293 | Frame_Shift_Del | A | - | p.K983fs |
| HEC1_ENDOMETRIUM | 123171377 | 123171473 | 123171445 | 123171446 | Frame_Shift_Ins | - | T | p.F120fs |
| SW1271_LUNG | 123171377 | 123171473 | 123171394 | 123171394 | Missense_Mutation | G | T | p.W102C |
| IM9_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123171377 | 123171473 | 123171420 | 123171420 | Missense_Mutation | A | T | p.D111V |
| NCIH2141_LUNG | 123171377 | 123171473 | 123171451 | 123171451 | Missense_Mutation | T | A | p.F121L |
| HCC2998_LARGE_INTESTINE | 123189978 | 123190085 | 123190005 | 123190005 | Missense_Mutation | A | C | p.E408D |
| SH10TC_STOMACH | 123204999 | 123205173 | 123205017 | 123205017 | Missense_Mutation | G | C | p.D793H |
| KNS62_LUNG | 123204999 | 123205173 | 123205043 | 123205043 | Missense_Mutation | G | T | p.Q801H |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123204999 | 123205173 | 123205162 | 123205162 | Missense_Mutation | A | G | p.N841S |
| OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123204999 | 123205173 | 123205162 | 123205162 | Missense_Mutation | A | G | p.N841S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 123204999 | 123205173 | 123205162 | 123205162 | Missense_Mutation | A | G | p.N841S |
| HKA1_SKIN | 123211807 | 123211908 | 123211823 | 123211823 | Missense_Mutation | G | A | p.G897E |
| PEER_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123211807 | 123211908 | 123211904 | 123211904 | Missense_Mutation | A | C | p.Q924P |
| BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123211807 | 123211908 | 123211904 | 123211904 | Missense_Mutation | A | C | p.Q924P |
| HEC251_ENDOMETRIUM | 123215230 | 123215378 | 123215263 | 123215263 | Missense_Mutation | A | C | p.N937H |
| ALLPO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123215230 | 123215378 | 123215273 | 123215273 | Missense_Mutation | G | A | p.R940K |
| SNU81_LARGE_INTESTINE | 123215230 | 123215378 | 123215325 | 123215325 | Missense_Mutation | A | C | p.L957F |
| FARAGE_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123217271 | 123217399 | 123217339 | 123217339 | Missense_Mutation | C | A | p.A998E |
| CW2_LARGE_INTESTINE | 123217271 | 123217399 | 123217356 | 123217356 | Missense_Mutation | A | G | p.S1004G |
| OC316_OVARY | 123217271 | 123217399 | 123217381 | 123217381 | Missense_Mutation | G | A | p.R1012Q |
| OC314_OVARY | 123217271 | 123217399 | 123217381 | 123217381 | Missense_Mutation | G | A | p.R1012Q |
| RI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 123176419 | 123176495 | 123176469 | 123176469 | Nonsense_Mutation | C | T | p.R146* |
| NCIH1155_LUNG | 123204999 | 123205173 | 123205041 | 123205041 | Nonsense_Mutation | C | T | p.Q801* |
| EWS834_BONE | 123217271 | 123217399 | 123217308 | 123217308 | Nonsense_Mutation | C | T | p.Q988* |
| HEC108_ENDOMETRIUM | 123159690 | 123159768 | 123159768 | 123159768 | Splice_Site | A | G | p.K41K |
| MDAMB415_BREAST | 123171377 | 123171473 | 123171377 | 123171377 | Splice_Site | T | C | p.S97P |
| HEC1_ENDOMETRIUM | 123189978 | 123190085 | 123190085 | 123190085 | Splice_Site | A | G | p.K435R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for STAG2 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STAG2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for STAG2 |
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RelatedDrugs for STAG2 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for STAG2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| STAG2 | C0005695 | Bladder Neoplasm | 3 | CTD_human |
| STAG2 | C0007138 | Carcinoma, Transitional Cell | 1 | CTD_human |
| STAG2 | C0023470 | Myeloid Leukemia | 1 | CTD_human |
| STAG2 | C1860789 | Leukemia, Megakaryoblastic, of Down Syndrome | 1 | CTD_human |
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