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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 SYCP2 |
 Gene summary |
| Gene information | Gene symbol | SYCP2 | Gene ID | 10388 |
| Gene name | synaptonemal complex protein 2 | |
| Synonyms | SCP-2|SCP2 | |
| Cytomap | 20q13.33 | |
| Type of gene | protein-coding | |
| Description | synaptonemal complex protein 2synaptonemal complex lateral element protein | |
| Modification date | 20180519 | |
| UniProtAcc | Q9BX26 | |
| Context | PubMed: SYCP2 [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 SYCP2 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 SYCP2 |
| 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 SYCP2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_358366 | 20 | 58440861:58440920:58441347:58441447:58441549:58441644 | 58441347:58441447 | ENSG00000196074.8 | ENST00000357552.3,ENST00000371001.2,ENST00000412613.1 |
| exon_skip_358367 | 20 | 58441549:58441644:58442765:58442902:58443889:58443935 | 58442765:58442902 | ENSG00000196074.8 | ENST00000412613.1 |
| exon_skip_358370 | 20 | 58442765:58442902:58443467:58443623:58443889:58443935 | 58443467:58443623 | ENSG00000196074.8 | ENST00000357552.3,ENST00000371001.2 |
| exon_skip_358373 | 20 | 58450325:58450524:58452439:58452610:58453062:58453100 | 58452439:58452610 | ENSG00000196074.8 | ENST00000357552.3,ENST00000371001.2 |
| exon_skip_358376 | 20 | 58456020:58456078:58456491:58456547:58456999:58457057 | 58456491:58456547 | ENSG00000196074.8 | ENST00000446834.1,ENST00000357552.3,ENST00000371001.2,ENST00000474749.1 |
| exon_skip_358379 | 20 | 58456491:58456547:58456999:58457057:58457149:58457220 | 58456999:58457057 | ENSG00000196074.8 | ENST00000446834.1,ENST00000357552.3,ENST00000371001.2,ENST00000474749.1 |
| exon_skip_358383 | 20 | 58457149:58457220:58460157:58460199:58460982:58461019 | 58460157:58460199 | ENSG00000196074.8 | ENST00000474749.1 |
| exon_skip_358391 | 20 | 58461761:58461889:58467044:58467481:58467622:58467756 | 58467044:58467481 | ENSG00000196074.8 | ENST00000446834.1,ENST00000357552.3,ENST00000371001.2 |
| exon_skip_358393 | 20 | 58468578:58468648:58470491:58470652:58471483:58471583 | 58470491:58470652 | ENSG00000196074.8 | ENST00000446834.1,ENST00000357552.3,ENST00000371001.2 |
| exon_skip_358394 | 20 | 58471483:58471583:58475192:58475339:58475798:58475873 | 58475192:58475339 | ENSG00000196074.8 | ENST00000446834.1,ENST00000357552.3,ENST00000371001.2 |
| exon_skip_358396 | 20 | 58476716:58476865:58482418:58482479:58486804:58486900 | 58482418:58482479 | ENSG00000196074.8 | ENST00000446834.1,ENST00000357552.3,ENST00000461538.1,ENST00000371001.2 |
| exon_skip_358399 | 20 | 58486823:58486900:58487427:58487473:58489029:58489082 | 58487427:58487473 | ENSG00000196074.8 | ENST00000446834.1,ENST00000471331.1,ENST00000357552.3,ENST00000371001.2 |
| exon_skip_358400 | 20 | 58487427:58487473:58489029:58489082:58489163:58489292 | 58489029:58489082 | ENSG00000196074.8 | ENST00000446834.1,ENST00000471331.1,ENST00000357552.3,ENST00000371001.2 |
| exon_skip_358403 | 20 | 58490519:58490605:58491540:58491626:58494212:58494237 | 58491540:58491626 | ENSG00000196074.8 | ENST00000446834.1,ENST00000357552.3,ENST00000371001.2 |
| exon_skip_358406 | 20 | 58495413:58495542:58496364:58496505:58497444:58497473 | 58496364:58496505 | ENSG00000196074.8 | ENST00000425931.1 |
| exon_skip_358408 | 20 | 58495413:58495542:58496364:58496508:58497444:58497473 | 58496364:58496508 | ENSG00000196074.8 | ENST00000446834.1,ENST00000357552.3,ENST00000371001.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SYCP2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_358366 | 20 | 58440861:58440920:58441347:58441447:58441549:58441644 | 58441347:58441447 | ENSG00000196074.8 | ENST00000357552.3,ENST00000371001.2,ENST00000412613.1 |
| exon_skip_358370 | 20 | 58442765:58442902:58443467:58443623:58443889:58443935 | 58443467:58443623 | ENSG00000196074.8 | ENST00000357552.3,ENST00000371001.2 |
| exon_skip_358373 | 20 | 58450325:58450524:58452439:58452610:58453062:58453100 | 58452439:58452610 | ENSG00000196074.8 | ENST00000357552.3,ENST00000371001.2 |
| exon_skip_358376 | 20 | 58456020:58456078:58456491:58456547:58456999:58457057 | 58456491:58456547 | ENSG00000196074.8 | ENST00000357552.3,ENST00000371001.2,ENST00000446834.1,ENST00000474749.1 |
| exon_skip_358379 | 20 | 58456491:58456547:58456999:58457057:58457149:58457220 | 58456999:58457057 | ENSG00000196074.8 | ENST00000357552.3,ENST00000371001.2,ENST00000446834.1,ENST00000474749.1 |
| exon_skip_358383 | 20 | 58457149:58457220:58460157:58460199:58460982:58461019 | 58460157:58460199 | ENSG00000196074.8 | ENST00000474749.1 |
| exon_skip_358391 | 20 | 58461761:58461889:58467044:58467481:58467622:58467756 | 58467044:58467481 | ENSG00000196074.8 | ENST00000357552.3,ENST00000371001.2,ENST00000446834.1 |
| exon_skip_358393 | 20 | 58468578:58468648:58470491:58470652:58471483:58471583 | 58470491:58470652 | ENSG00000196074.8 | ENST00000357552.3,ENST00000371001.2,ENST00000446834.1 |
| exon_skip_358396 | 20 | 58476716:58476865:58482418:58482479:58486804:58486900 | 58482418:58482479 | ENSG00000196074.8 | ENST00000357552.3,ENST00000371001.2,ENST00000446834.1,ENST00000461538.1 |
| exon_skip_358399 | 20 | 58486823:58486900:58487427:58487473:58489029:58489082 | 58487427:58487473 | ENSG00000196074.8 | ENST00000357552.3,ENST00000371001.2,ENST00000446834.1,ENST00000471331.1 |
| exon_skip_358400 | 20 | 58487427:58487473:58489029:58489082:58489163:58489292 | 58489029:58489082 | ENSG00000196074.8 | ENST00000357552.3,ENST00000371001.2,ENST00000446834.1,ENST00000471331.1 |
| exon_skip_358403 | 20 | 58490519:58490605:58491540:58491626:58494212:58494237 | 58491540:58491626 | ENSG00000196074.8 | ENST00000357552.3,ENST00000371001.2,ENST00000446834.1 |
| exon_skip_358406 | 20 | 58495413:58495542:58496364:58496505:58497444:58497473 | 58496364:58496505 | ENSG00000196074.8 | ENST00000425931.1 |
| exon_skip_358408 | 20 | 58495413:58495542:58496364:58496508:58497444:58497473 | 58496364:58496508 | ENSG00000196074.8 | ENST00000357552.3,ENST00000371001.2,ENST00000446834.1 |
| 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 SYCP2 |
| 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 |
| ENST00000357552 | 58441347 | 58441447 | Frame-shift |
| ENST00000371001 | 58441347 | 58441447 | Frame-shift |
| ENST00000357552 | 58456491 | 58456547 | Frame-shift |
| ENST00000371001 | 58456491 | 58456547 | Frame-shift |
| ENST00000357552 | 58456999 | 58457057 | Frame-shift |
| ENST00000371001 | 58456999 | 58457057 | Frame-shift |
| ENST00000357552 | 58467044 | 58467481 | Frame-shift |
| ENST00000371001 | 58467044 | 58467481 | Frame-shift |
| ENST00000357552 | 58470491 | 58470652 | Frame-shift |
| ENST00000371001 | 58470491 | 58470652 | Frame-shift |
| ENST00000357552 | 58482418 | 58482479 | Frame-shift |
| ENST00000371001 | 58482418 | 58482479 | Frame-shift |
| ENST00000357552 | 58487427 | 58487473 | Frame-shift |
| ENST00000371001 | 58487427 | 58487473 | Frame-shift |
| ENST00000357552 | 58489029 | 58489082 | Frame-shift |
| ENST00000371001 | 58489029 | 58489082 | Frame-shift |
| ENST00000357552 | 58491540 | 58491626 | Frame-shift |
| ENST00000371001 | 58491540 | 58491626 | Frame-shift |
| ENST00000357552 | 58443467 | 58443623 | In-frame |
| ENST00000371001 | 58443467 | 58443623 | In-frame |
| ENST00000357552 | 58452439 | 58452610 | In-frame |
| ENST00000371001 | 58452439 | 58452610 | In-frame |
| ENST00000357552 | 58475192 | 58475339 | In-frame |
| ENST00000371001 | 58475192 | 58475339 | In-frame |
| ENST00000357552 | 58496364 | 58496508 | In-frame |
| ENST00000371001 | 58496364 | 58496508 | 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 |
| ENST00000357552 | 58441347 | 58441447 | Frame-shift |
| ENST00000371001 | 58441347 | 58441447 | Frame-shift |
| ENST00000357552 | 58456491 | 58456547 | Frame-shift |
| ENST00000371001 | 58456491 | 58456547 | Frame-shift |
| ENST00000357552 | 58456999 | 58457057 | Frame-shift |
| ENST00000371001 | 58456999 | 58457057 | Frame-shift |
| ENST00000357552 | 58467044 | 58467481 | Frame-shift |
| ENST00000371001 | 58467044 | 58467481 | Frame-shift |
| ENST00000357552 | 58470491 | 58470652 | Frame-shift |
| ENST00000371001 | 58470491 | 58470652 | Frame-shift |
| ENST00000357552 | 58482418 | 58482479 | Frame-shift |
| ENST00000371001 | 58482418 | 58482479 | Frame-shift |
| ENST00000357552 | 58487427 | 58487473 | Frame-shift |
| ENST00000371001 | 58487427 | 58487473 | Frame-shift |
| ENST00000357552 | 58489029 | 58489082 | Frame-shift |
| ENST00000371001 | 58489029 | 58489082 | Frame-shift |
| ENST00000357552 | 58491540 | 58491626 | Frame-shift |
| ENST00000371001 | 58491540 | 58491626 | Frame-shift |
| ENST00000357552 | 58443467 | 58443623 | In-frame |
| ENST00000371001 | 58443467 | 58443623 | In-frame |
| ENST00000357552 | 58452439 | 58452610 | In-frame |
| ENST00000371001 | 58452439 | 58452610 | In-frame |
| ENST00000357552 | 58496364 | 58496508 | In-frame |
| ENST00000371001 | 58496364 | 58496508 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SYCP2 |
| 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 |
| ENST00000357552 | 5584 | 1530 | 58496364 | 58496508 | 251 | 394 | 8 | 56 |
| ENST00000371001 | 5494 | 1530 | 58496364 | 58496508 | 164 | 307 | 8 | 56 |
| ENST00000357552 | 5584 | 1530 | 58475192 | 58475339 | 1484 | 1630 | 419 | 468 |
| ENST00000371001 | 5494 | 1530 | 58475192 | 58475339 | 1397 | 1543 | 419 | 468 |
| ENST00000357552 | 5584 | 1530 | 58452439 | 58452610 | 3206 | 3376 | 993 | 1050 |
| ENST00000371001 | 5494 | 1530 | 58452439 | 58452610 | 3119 | 3289 | 993 | 1050 |
| ENST00000357552 | 5584 | 1530 | 58443467 | 58443623 | 4059 | 4214 | 1277 | 1329 |
| ENST00000371001 | 5494 | 1530 | 58443467 | 58443623 | 3972 | 4127 | 1277 | 1329 |
| 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 |
| ENST00000357552 | 5584 | 1530 | 58496364 | 58496508 | 251 | 394 | 8 | 56 |
| ENST00000371001 | 5494 | 1530 | 58496364 | 58496508 | 164 | 307 | 8 | 56 |
| ENST00000357552 | 5584 | 1530 | 58452439 | 58452610 | 3206 | 3376 | 993 | 1050 |
| ENST00000371001 | 5494 | 1530 | 58452439 | 58452610 | 3119 | 3289 | 993 | 1050 |
| ENST00000357552 | 5584 | 1530 | 58443467 | 58443623 | 4059 | 4214 | 1277 | 1329 |
| ENST00000371001 | 5494 | 1530 | 58443467 | 58443623 | 3972 | 4127 | 1277 | 1329 |
| 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 |
| Q9BX26 | 8 | 56 | 1 | 1530 | Chain | ID=PRO_0000072366;Note=Synaptonemal complex protein 2 |
| Q9BX26 | 8 | 56 | 1 | 1530 | Chain | ID=PRO_0000072366;Note=Synaptonemal complex protein 2 |
| Q9BX26 | 419 | 468 | 1 | 1530 | Chain | ID=PRO_0000072366;Note=Synaptonemal complex protein 2 |
| Q9BX26 | 419 | 468 | 1 | 1530 | Chain | ID=PRO_0000072366;Note=Synaptonemal complex protein 2 |
| Q9BX26 | 419 | 468 | 457 | 457 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CUU3 |
| Q9BX26 | 419 | 468 | 457 | 457 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CUU3 |
| Q9BX26 | 419 | 468 | 465 | 465 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CUU3 |
| Q9BX26 | 419 | 468 | 465 | 465 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CUU3 |
| Q9BX26 | 993 | 1050 | 1 | 1530 | Chain | ID=PRO_0000072366;Note=Synaptonemal complex protein 2 |
| Q9BX26 | 993 | 1050 | 1 | 1530 | Chain | ID=PRO_0000072366;Note=Synaptonemal complex protein 2 |
| Q9BX26 | 1277 | 1329 | 1 | 1530 | Chain | ID=PRO_0000072366;Note=Synaptonemal complex protein 2 |
| Q9BX26 | 1277 | 1329 | 1 | 1530 | Chain | ID=PRO_0000072366;Note=Synaptonemal complex protein 2 |
| Q9BX26 | 1277 | 1329 | 1295 | 1295 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CUU3 |
| Q9BX26 | 1277 | 1329 | 1295 | 1295 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CUU3 |
| Q9BX26 | 1277 | 1329 | 1297 | 1297 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CUU3 |
| Q9BX26 | 1277 | 1329 | 1297 | 1297 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CUU3 |
| 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 |
| Q9BX26 | 8 | 56 | 1 | 1530 | Chain | ID=PRO_0000072366;Note=Synaptonemal complex protein 2 |
| Q9BX26 | 8 | 56 | 1 | 1530 | Chain | ID=PRO_0000072366;Note=Synaptonemal complex protein 2 |
| Q9BX26 | 993 | 1050 | 1 | 1530 | Chain | ID=PRO_0000072366;Note=Synaptonemal complex protein 2 |
| Q9BX26 | 993 | 1050 | 1 | 1530 | Chain | ID=PRO_0000072366;Note=Synaptonemal complex protein 2 |
| Q9BX26 | 1277 | 1329 | 1 | 1530 | Chain | ID=PRO_0000072366;Note=Synaptonemal complex protein 2 |
| Q9BX26 | 1277 | 1329 | 1 | 1530 | Chain | ID=PRO_0000072366;Note=Synaptonemal complex protein 2 |
| Q9BX26 | 1277 | 1329 | 1295 | 1295 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CUU3 |
| Q9BX26 | 1277 | 1329 | 1295 | 1295 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CUU3 |
| Q9BX26 | 1277 | 1329 | 1297 | 1297 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CUU3 |
| Q9BX26 | 1277 | 1329 | 1297 | 1297 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9CUU3 |
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SNVs in the skipped exons for SYCP2 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
SYCP2_SARC_exon_skip_358373_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_358366 | 58441348 | 58441447 | 58441387 | 58441387 | Frame_Shift_Del | T | - | p.K1427fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_358366 | 58441348 | 58441447 | 58441387 | 58441387 | Frame_Shift_Del | T | - | p.K1427fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_358366 | 58441348 | 58441447 | 58441393 | 58441393 | Frame_Shift_Del | A | - | p.F1425fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_358366 | 58441348 | 58441447 | 58441397 | 58441397 | Frame_Shift_Del | T | - | p.N1424fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_358367 | 58442766 | 58442902 | 58442796 | 58442796 | Frame_Shift_Del | C | - | p.R1365fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_358373 | 58452440 | 58452610 | 58452519 | 58452519 | Frame_Shift_Del | T | - | p.N1024fs |
| KICH | TCGA-KN-8423-01 | exon_skip_358373 | 58452440 | 58452610 | 58452519 | 58452519 | Frame_Shift_Del | T | - | p.N1024fs |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_358373 | 58452440 | 58452610 | 58452519 | 58452519 | Frame_Shift_Del | T | - | p.N1024fs |
| UCEC | TCGA-AP-A0LD-01 | exon_skip_358373 | 58452440 | 58452610 | 58452519 | 58452519 | Frame_Shift_Del | T | - | p.N1024fs |
| UCEC | TCGA-B5-A0K2-01 | exon_skip_358373 | 58452440 | 58452610 | 58452519 | 58452519 | Frame_Shift_Del | T | - | p.N1024fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_358373 | 58452440 | 58452610 | 58452585 | 58452585 | Frame_Shift_Del | T | - | p.K1002fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_358373 | 58452440 | 58452610 | 58452585 | 58452585 | Frame_Shift_Del | T | - | p.K1002fs |
| LIHC | TCGA-DD-A1EG-01 | 58457000 | 58457057 | 58457006 | 58457006 | Frame_Shift_Del | T | - | p.K884fs | |
| BLCA | TCGA-GC-A3I6-01 | exon_skip_358391 | 58467045 | 58467481 | 58467047 | 58467047 | Frame_Shift_Del | T | - | p.M788fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_358391 | 58467045 | 58467481 | 58467047 | 58467047 | Frame_Shift_Del | T | - | p.M788fs |
| GBM | TCGA-06-5414-01 | exon_skip_358391 | 58467045 | 58467481 | 58467047 | 58467047 | Frame_Shift_Del | T | - | p.M788fs |
| LGG | TCGA-DU-6397-02 | exon_skip_358391 | 58467045 | 58467481 | 58467047 | 58467047 | Frame_Shift_Del | T | - | p.M788fs |
| STAD | TCGA-MX-A5UJ-01 | exon_skip_358391 | 58467045 | 58467481 | 58467047 | 58467047 | Frame_Shift_Del | T | - | p.M788fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_358391 | 58467045 | 58467481 | 58467102 | 58467102 | Frame_Shift_Del | T | - | p.K769fs |
| STAD | TCGA-CG-5721-01 | exon_skip_358391 | 58467045 | 58467481 | 58467121 | 58467121 | Frame_Shift_Del | T | - | p.N763fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_358391 | 58467045 | 58467481 | 58467316 | 58467316 | Frame_Shift_Del | T | - | p.N698fs |
| COAD | TCGA-AA-3492-01 | exon_skip_358396 | 58482419 | 58482479 | 58482441 | 58482441 | Frame_Shift_Del | T | - | p.V338fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_358396 | 58482419 | 58482479 | 58482451 | 58482451 | Frame_Shift_Del | G | - | p.P334fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_358403 | 58491541 | 58491626 | 58491619 | 58491619 | Frame_Shift_Del | T | - | p.K145fs |
| ESCA | TCGA-VR-A8EU-01 | exon_skip_358406 | 58496365 | 58496505 | 58496393 | 58496393 | Frame_Shift_Del | A | - | p.F47fs |
| ESCA | TCGA-VR-A8EU-01 | exon_skip_358408 | 58496365 | 58496508 | 58496393 | 58496393 | Frame_Shift_Del | A | - | p.F47fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_358406 | 58496365 | 58496505 | 58496437 | 58496437 | Frame_Shift_Del | A | - | p.I32fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_358408 | 58496365 | 58496508 | 58496437 | 58496437 | Frame_Shift_Del | A | - | p.I32fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_358406 | 58496365 | 58496505 | 58496471 | 58496471 | Frame_Shift_Del | T | - | p.N21fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_358408 | 58496365 | 58496508 | 58496471 | 58496471 | Frame_Shift_Del | T | - | p.N21fs |
| COAD | TCGA-G4-6625-01 | exon_skip_358370 | 58443468 | 58443623 | 58443507 | 58443508 | Frame_Shift_Ins | - | T | p.L1317fs |
| UCEC | TCGA-BG-A0M3-01 | exon_skip_358370 | 58443468 | 58443623 | 58443507 | 58443508 | Frame_Shift_Ins | - | T | p.K1316fs |
| STAD | TCGA-BR-6452-01 | exon_skip_358370 | 58443468 | 58443623 | 58443508 | 58443509 | Frame_Shift_Ins | - | T | p.K1316fs |
| SARC | TCGA-QQ-A8VF-01 | exon_skip_358373 | 58452440 | 58452610 | 58452518 | 58452519 | Frame_Shift_Ins | - | T | p.I1024fs |
| SKCM | TCGA-FR-A3YN-06 | exon_skip_358373 | 58452440 | 58452610 | 58452518 | 58452519 | Frame_Shift_Ins | - | T | p.I1024fs |
| LIHC | TCGA-CC-5259-01 | exon_skip_358391 | 58467045 | 58467481 | 58467120 | 58467121 | Frame_Shift_Ins | - | T | p.N763fs |
| LIHC | TCGA-CC-5259-01 | exon_skip_358391 | 58467045 | 58467481 | 58467120 | 58467121 | Frame_Shift_Ins | - | T | p.S763fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_358391 | 58467045 | 58467481 | 58467350 | 58467351 | Frame_Shift_Ins | - | T | p.E686fs |
| UCEC | TCGA-AP-A0LH-01 | exon_skip_358393 | 58470492 | 58470652 | 58470637 | 58470638 | Frame_Shift_Ins | - | T | p.R507fs |
| SKCM | TCGA-BF-A1Q0-01 | exon_skip_358366 | 58441348 | 58441447 | 58441356 | 58441356 | Nonsense_Mutation | C | A | p.E1438* |
| OV | TCGA-24-1563-01 | exon_skip_358366 | 58441348 | 58441447 | 58441389 | 58441389 | Nonsense_Mutation | T | A | p.K1427* |
| LIHC | TCGA-DD-AACT-01 | exon_skip_358366 | 58441348 | 58441447 | 58441392 | 58441392 | Nonsense_Mutation | C | A | p.E1426X |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_358373 | 58452440 | 58452610 | 58452478 | 58452478 | Nonsense_Mutation | C | A | p.E1038* |
| UCEC | TCGA-B5-A0JY-01 | exon_skip_358391 | 58467045 | 58467481 | 58467092 | 58467092 | Nonsense_Mutation | C | A | p.E773* |
| PRAD | TCGA-KK-A6E8-01 | exon_skip_358391 | 58467045 | 58467481 | 58467116 | 58467116 | Nonsense_Mutation | G | A | p.Q765* |
| PRAD | TCGA-KK-A6E8-01 | exon_skip_358391 | 58467045 | 58467481 | 58467116 | 58467116 | Nonsense_Mutation | G | A | p.Q765X |
| LIHC | TCGA-DD-A113-01 | exon_skip_358391 | 58467045 | 58467481 | 58467323 | 58467323 | Nonsense_Mutation | G | A | p.Q696* |
| LIHC | TCGA-DD-A113-01 | exon_skip_358391 | 58467045 | 58467481 | 58467323 | 58467323 | Nonsense_Mutation | G | A | p.Q696X |
| BLCA | TCGA-DK-A6AW-01 | exon_skip_358391 | 58467045 | 58467481 | 58467368 | 58467368 | Nonsense_Mutation | T | A | p.K681* |
| BRCA | TCGA-EW-A1J5-01 | exon_skip_358393 | 58470492 | 58470652 | 58470578 | 58470578 | Nonsense_Mutation | G | A | p.Q527* |
| BLCA | TCGA-XF-AAN5-01 | exon_skip_358396 | 58482419 | 58482479 | 58482422 | 58482422 | Nonsense_Mutation | C | A | p.E344* |
| UCEC | TCGA-BS-A0UV-01 | exon_skip_358396 | 58482419 | 58482479 | 58482446 | 58482446 | Nonsense_Mutation | C | A | p.E336* |
| SKCM | TCGA-Z2-AA3S-06 | exon_skip_358403 | 58491541 | 58491626 | 58491624 | 58491624 | Nonsense_Mutation | T | A | p.K144* |
| LIHC | TCGA-DD-AADQ-01 | exon_skip_358406 | 58496365 | 58496505 | 58496502 | 58496502 | Nonsense_Mutation | C | A | p.E11X |
| LIHC | TCGA-DD-AADQ-01 | exon_skip_358408 | 58496365 | 58496508 | 58496502 | 58496502 | Nonsense_Mutation | C | A | p.E11X |
| STAD | TCGA-BR-4361-01 | 58457000 | 58457057 | 58456998 | 58456998 | Splice_Site | A | G | . | |
| STAD | TCGA-BR-4361-01 | 58457000 | 58457057 | 58456998 | 58456998 | Splice_Site | A | G | p.G886_splice | |
| UCEC | TCGA-AP-A0LM-01 | 58457000 | 58457057 | 58457058 | 58457058 | Splice_Site | C | A | e26-1 | |
| BRCA | TCGA-AN-A0XU-01 | exon_skip_358391 | 58467045 | 58467481 | 58467482 | 58467482 | Splice_Site | C | A | e22-1 |
| UCS | TCGA-ND-A4WC-01 | exon_skip_358391 | 58467045 | 58467481 | 58467482 | 58467482 | Splice_Site | C | A | . |
| CHOL | TCGA-W5-AA39-01 | exon_skip_358393 | 58470492 | 58470652 | 58470491 | 58470491 | Splice_Site | C | T | . |
| LIHC | TCGA-DD-A3A9-01 | exon_skip_358400 | 58489030 | 58489082 | 58489028 | 58489028 | Splice_Site | A | G | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-QQ-A8VF-01 |
| Cancer type: SARC | |
| ESID: exon_skip_358373 | |
| Skipped exon start: 58452440 | |
| Skipped exon end: 58452610 | |
| Mutation start: 58452518 | |
| Mutation end: 58452519 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.I1024fs | |
exon_skip_286384_SARC_TCGA-QQ-A8VF-01.png | |
exon_skip_309975_SARC_TCGA-QQ-A8VF-01.png | |
exon_skip_313776_SARC_TCGA-QQ-A8VF-01.png | |
exon_skip_358373_SARC_TCGA-QQ-A8VF-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 |
| CALU3_LUNG | 58443468 | 58443623 | 58443507 | 58443508 | Frame_Shift_Ins | - | T | p.L1317fs |
| HUPT3_PANCREAS | 58443468 | 58443623 | 58443507 | 58443508 | Frame_Shift_Ins | - | T | p.L1317fs |
| EN_ENDOMETRIUM | 58452440 | 58452610 | 58452518 | 58452519 | Frame_Shift_Ins | - | TT | p.N1024fs |
| SNU1_STOMACH | 58491541 | 58491626 | 58491618 | 58491619 | Frame_Shift_Ins | - | T | p.Q146fs |
| MFE319_ENDOMETRIUM | 58496365 | 58496505 | 58496470 | 58496471 | Frame_Shift_Ins | - | T | p.N21fs |
| MFE319_ENDOMETRIUM | 58496365 | 58496508 | 58496470 | 58496471 | Frame_Shift_Ins | - | T | p.N21fs |
| CW2_LARGE_INTESTINE | 58496365 | 58496505 | 58496496 | 58496497 | Frame_Shift_Ins | - | T | p.C13fs |
| CW2_LARGE_INTESTINE | 58496365 | 58496508 | 58496496 | 58496497 | Frame_Shift_Ins | - | T | p.C13fs |
| CS1_BONE | 58441348 | 58441447 | 58441433 | 58441433 | Missense_Mutation | T | C | p.D1412G |
| JHUEM7_ENDOMETRIUM | 58442766 | 58442902 | 58442857 | 58442857 | Missense_Mutation | G | T | p.P1345H |
| ESS1_ENDOMETRIUM | 58442766 | 58442902 | 58442863 | 58442863 | Missense_Mutation | G | T | p.S1343Y |
| L540_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58442766 | 58442902 | 58442890 | 58442890 | Missense_Mutation | A | T | p.V1334E |
| TE5_OESOPHAGUS | 58442766 | 58442902 | 58442896 | 58442896 | Missense_Mutation | T | C | p.E1332G |
| BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58443468 | 58443623 | 58443542 | 58443542 | Missense_Mutation | T | G | p.K1305T |
| HEC108_ENDOMETRIUM | 58443468 | 58443623 | 58443552 | 58443552 | Missense_Mutation | T | C | p.M1302V |
| KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58443468 | 58443623 | 58443603 | 58443603 | Missense_Mutation | G | A | p.R1285C |
| SUM149PT_BREAST | 58443468 | 58443623 | 58443606 | 58443606 | Missense_Mutation | T | C | p.S1284G |
| HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58452440 | 58452610 | 58452528 | 58452528 | Missense_Mutation | G | T | p.T1021K |
| EW12_BONE | 58456492 | 58456547 | 58456510 | 58456510 | Missense_Mutation | G | T | p.A899E |
| SNUC4_LARGE_INTESTINE | 58457000 | 58457057 | 58457043 | 58457043 | Missense_Mutation | T | C | p.N872S |
| HEC251_ENDOMETRIUM | 58467045 | 58467481 | 58467054 | 58467054 | Missense_Mutation | T | G | p.Q785H |
| HCC2998_LARGE_INTESTINE | 58467045 | 58467481 | 58467096 | 58467096 | Missense_Mutation | C | A | p.E771D |
| DJM1_SKIN | 58467045 | 58467481 | 58467106 | 58467106 | Missense_Mutation | C | G | p.R768T |
| PACADD137_PANCREAS | 58467045 | 58467481 | 58467146 | 58467146 | Missense_Mutation | C | T | p.D755N |
| NCIH2172_LUNG | 58467045 | 58467481 | 58467152 | 58467152 | Missense_Mutation | T | A | p.T753S |
| 59M_OVARY | 58467045 | 58467481 | 58467154 | 58467154 | Missense_Mutation | G | A | p.A752V |
| SNU1066_UPPER_AERODIGESTIVE_TRACT | 58467045 | 58467481 | 58467270 | 58467270 | Missense_Mutation | C | A | p.Q713H |
| ONS76_CENTRAL_NERVOUS_SYSTEM | 58467045 | 58467481 | 58467431 | 58467431 | Missense_Mutation | A | G | p.S660P |
| HCC2998_LARGE_INTESTINE | 58467045 | 58467481 | 58467463 | 58467463 | Missense_Mutation | T | C | p.K649R |
| SNU1040_LARGE_INTESTINE | 58467045 | 58467481 | 58467475 | 58467475 | Missense_Mutation | A | G | p.V645A |
| NCIH630_LARGE_INTESTINE | 58470492 | 58470652 | 58470545 | 58470545 | Missense_Mutation | A | T | p.S538T |
| HEC251_ENDOMETRIUM | 58475193 | 58475339 | 58475212 | 58475212 | Missense_Mutation | C | A | p.R462I |
| HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58475193 | 58475339 | 58475272 | 58475272 | Missense_Mutation | T | C | p.K442R |
| CAL120_BREAST | 58482419 | 58482479 | 58482455 | 58482455 | Missense_Mutation | C | G | p.V333L |
| BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58482419 | 58482479 | 58482476 | 58482476 | Missense_Mutation | G | A | p.H326Y |
| EPLC272H_LUNG | 58487428 | 58487473 | 58487439 | 58487439 | Missense_Mutation | C | G | p.D289H |
| MCC13_SKIN | 58487428 | 58487473 | 58487460 | 58487460 | Missense_Mutation | G | A | p.P282S |
| HEPG2_LIVER | 58491541 | 58491626 | 58491582 | 58491582 | Missense_Mutation | G | T | p.L158M |
| C3A_LIVER | 58491541 | 58491626 | 58491582 | 58491582 | Missense_Mutation | G | T | p.L158M |
| FADU_UPPER_AERODIGESTIVE_TRACT | 58491541 | 58491626 | 58491600 | 58491600 | Missense_Mutation | C | T | p.V152I |
| MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58491541 | 58491626 | 58491623 | 58491623 | Missense_Mutation | T | C | p.K144R |
| MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58496365 | 58496505 | 58496477 | 58496477 | Missense_Mutation | C | T | p.R19K |
| MAC2A_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 58496365 | 58496508 | 58496477 | 58496477 | Missense_Mutation | C | T | p.R19K |
| SKMEL30_SKIN | 58496365 | 58496505 | 58496477 | 58496477 | Missense_Mutation | C | G | p.R19T |
| SKMEL30_SKIN | 58496365 | 58496508 | 58496477 | 58496477 | Missense_Mutation | C | G | p.R19T |
| BICR78_UPPER_AERODIGESTIVE_TRACT | 58467045 | 58467481 | 58467060 | 58467061 | Nonsense_Mutation | CG | TT | p.S783* |
| RH41_SOFT_TISSUE | 58467045 | 58467481 | 58467060 | 58467061 | Nonsense_Mutation | CG | TT | p.S783* |
| SIHA_CERVIX | 58467045 | 58467481 | 58467060 | 58467061 | Nonsense_Mutation | CG | TT | p.S783* |
| C80_LARGE_INTESTINE | 58467045 | 58467481 | 58467061 | 58467061 | Nonsense_Mutation | G | T | p.S783* |
| CASKI_CERVIX | 58467045 | 58467481 | 58467061 | 58467061 | Nonsense_Mutation | G | T | p.S783* |
| GBM001_CENTRAL_NERVOUS_SYSTEM | 58467045 | 58467481 | 58467061 | 58467061 | Nonsense_Mutation | G | T | p.S783* |
| MERO82_LUNG | 58467045 | 58467481 | 58467061 | 58467061 | Nonsense_Mutation | G | T | p.S783* |
| MM415_SKIN | 58467045 | 58467481 | 58467061 | 58467061 | Nonsense_Mutation | G | T | p.S783* |
| OCUM1_STOMACH | 58467045 | 58467481 | 58467061 | 58467061 | Nonsense_Mutation | G | T | p.S783* |
| PACADD165_PANCREAS | 58467045 | 58467481 | 58467061 | 58467061 | Nonsense_Mutation | G | T | p.S783* |
| RHJT_SOFT_TISSUE | 58467045 | 58467481 | 58467061 | 58467061 | Nonsense_Mutation | G | T | p.S783* |
| SW954_VULVA | 58467045 | 58467481 | 58467061 | 58467061 | Nonsense_Mutation | G | T | p.S783* |
| TTC442_SOFT_TISSUE | 58467045 | 58467481 | 58467061 | 58467061 | Nonsense_Mutation | G | T | p.S783* |
| UMUC14_URINARY_TRACT | 58467045 | 58467481 | 58467061 | 58467061 | Nonsense_Mutation | G | T | p.S783* |
| UMUC6_URINARY_TRACT | 58467045 | 58467481 | 58467061 | 58467061 | Nonsense_Mutation | G | T | p.S783* |
| YH13_CENTRAL_NERVOUS_SYSTEM | 58470492 | 58470652 | 58470529 | 58470529 | Nonsense_Mutation | G | T | p.S543* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SYCP2 |
| 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 SYCP2 |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SYCP2 |
Top |
RelatedDrugs for SYCP2 |
| 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 |
Top |
RelatedDiseases for SYCP2 |
| 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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