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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 XRCC6 |
 Gene summary |
| Gene information | Gene symbol | XRCC6 | Gene ID | 2547 |
| Gene name | X-ray repair cross complementing 6 | |
| Synonyms | CTC75|CTCBF|G22P1|KU70|ML8|TLAA | |
| Cytomap | 22q13.2 | |
| Type of gene | protein-coding | |
| Description | X-ray repair cross-complementing protein 65'-dRP lyase Ku705'-deoxyribose-5-phosphate lyase Ku7070 kDa subunit of Ku antigenATP-dependent DNA helicase 2 subunit 1ATP-dependent DNA helicase II, 70 kDa subunitCTC box binding factor 75 kDa subunitDNA | |
| Modification date | 20180523 | |
| UniProtAcc | P12956 | |
| Context | PubMed: XRCC6 [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 |
| XRCC6 | GO:0002218 | activation of innate immune response | 28712728 |
| XRCC6 | GO:0045860 | positive regulation of protein kinase activity | 22504299 |
| XRCC6 | GO:0045893 | positive regulation of transcription, DNA-templated | 12145306 |
| XRCC6 | GO:0051290 | protein heterotetramerization | 24095731 |
| XRCC6 | GO:0071480 | cellular response to gamma radiation | 26359349 |
| XRCC6 | GO:0097680 | double-strand break repair via classical nonhomologous end joining | 24095731 |
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Exon skipping events across known transcript of Ensembl for XRCC6 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 XRCC6 |
| 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 XRCC6 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_365976 | 22 | 42018000:42018090:42024121:42024234:42032116:42032255 | 42024121:42024234 | ENSG00000196419.8 | ENST00000405878.1,ENST00000360079.3,ENST00000359308.4 |
| exon_skip_365979 | 22 | 42032519:42032774:42033611:42033795:42042899:42043086 | 42033611:42033795 | ENSG00000196419.8 | ENST00000402580.3,ENST00000405878.1,ENST00000428575.2,ENST00000360079.3,ENST00000405506.1,ENST00000359308.4 |
| exon_skip_365981 | 22 | 42033611:42033795:42042899:42043086:42046726:42046895 | 42042899:42043086 | ENSG00000196419.8 | ENST00000402580.3,ENST00000405878.1,ENST00000428575.2,ENST00000360079.3,ENST00000405506.1,ENST00000359308.4 |
| exon_skip_365983 | 22 | 42046726:42046895:42049532:42049694:42052906:42053036 | 42049532:42049694 | ENSG00000196419.8 | ENST00000402580.3,ENST00000405878.1,ENST00000428575.2,ENST00000360079.3,ENST00000405506.1,ENST00000359308.4 |
| exon_skip_365984 | 22 | 42049532:42049694:42052906:42053036:42054255:42054356 | 42052906:42053036 | ENSG00000196419.8 | ENST00000402580.3,ENST00000405878.1,ENST00000428575.2,ENST00000360079.3,ENST00000405506.1,ENST00000359308.4 |
| exon_skip_365989 | 22 | 42052956:42053036:42054255:42054356:42057334:42057448 | 42054255:42054356 | ENSG00000196419.8 | ENST00000478914.1,ENST00000402580.3,ENST00000405878.1,ENST00000428575.2,ENST00000360079.3,ENST00000405506.1,ENST00000359308.4 |
| exon_skip_366000 | 22 | 42054255:42054356:42057334:42057448:42059625:42059637 | 42057334:42057448 | ENSG00000196419.8 | ENST00000402580.3,ENST00000405878.1,ENST00000428575.2,ENST00000360079.3,ENST00000405506.1,ENST00000359308.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for XRCC6 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_365976 | 22 | 42018000:42018090:42024121:42024234:42032116:42032255 | 42024121:42024234 | ENSG00000196419.8 | ENST00000360079.3,ENST00000359308.4,ENST00000405878.1 |
| exon_skip_365979 | 22 | 42032519:42032774:42033611:42033795:42042899:42043086 | 42033611:42033795 | ENSG00000196419.8 | ENST00000360079.3,ENST00000402580.3,ENST00000428575.2,ENST00000359308.4,ENST00000405878.1,ENST00000405506.1 |
| exon_skip_365981 | 22 | 42033611:42033795:42042899:42043086:42046726:42046895 | 42042899:42043086 | ENSG00000196419.8 | ENST00000360079.3,ENST00000402580.3,ENST00000428575.2,ENST00000359308.4,ENST00000405878.1,ENST00000405506.1 |
| exon_skip_365983 | 22 | 42046726:42046895:42049532:42049694:42052906:42053036 | 42049532:42049694 | ENSG00000196419.8 | ENST00000360079.3,ENST00000402580.3,ENST00000428575.2,ENST00000359308.4,ENST00000405878.1,ENST00000405506.1 |
| exon_skip_365984 | 22 | 42049532:42049694:42052906:42053036:42054255:42054356 | 42052906:42053036 | ENSG00000196419.8 | ENST00000360079.3,ENST00000402580.3,ENST00000428575.2,ENST00000359308.4,ENST00000405878.1,ENST00000405506.1 |
| exon_skip_365989 | 22 | 42052956:42053036:42054255:42054356:42057334:42057448 | 42054255:42054356 | ENSG00000196419.8 | ENST00000360079.3,ENST00000402580.3,ENST00000428575.2,ENST00000359308.4,ENST00000405878.1,ENST00000405506.1,ENST00000478914.1 |
| exon_skip_366000 | 22 | 42054255:42054356:42057334:42057448:42059625:42059637 | 42057334:42057448 | ENSG00000196419.8 | ENST00000360079.3,ENST00000402580.3,ENST00000428575.2,ENST00000359308.4,ENST00000405878.1,ENST00000405506.1 |
| 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 XRCC6 |
| 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 |
| ENST00000359308 | 42024121 | 42024234 | Frame-shift |
| ENST00000360079 | 42024121 | 42024234 | Frame-shift |
| ENST00000405878 | 42024121 | 42024234 | Frame-shift |
| ENST00000359308 | 42033611 | 42033795 | Frame-shift |
| ENST00000360079 | 42033611 | 42033795 | Frame-shift |
| ENST00000405878 | 42033611 | 42033795 | Frame-shift |
| ENST00000359308 | 42042899 | 42043086 | Frame-shift |
| ENST00000360079 | 42042899 | 42043086 | Frame-shift |
| ENST00000405878 | 42042899 | 42043086 | Frame-shift |
| ENST00000359308 | 42052906 | 42053036 | Frame-shift |
| ENST00000360079 | 42052906 | 42053036 | Frame-shift |
| ENST00000405878 | 42052906 | 42053036 | Frame-shift |
| ENST00000359308 | 42054255 | 42054356 | Frame-shift |
| ENST00000360079 | 42054255 | 42054356 | Frame-shift |
| ENST00000405878 | 42054255 | 42054356 | Frame-shift |
| ENST00000359308 | 42049532 | 42049694 | In-frame |
| ENST00000360079 | 42049532 | 42049694 | In-frame |
| ENST00000405878 | 42049532 | 42049694 | In-frame |
| ENST00000359308 | 42057334 | 42057448 | In-frame |
| ENST00000360079 | 42057334 | 42057448 | In-frame |
| ENST00000405878 | 42057334 | 42057448 | 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 |
| ENST00000359308 | 42024121 | 42024234 | Frame-shift |
| ENST00000360079 | 42024121 | 42024234 | Frame-shift |
| ENST00000405878 | 42024121 | 42024234 | Frame-shift |
| ENST00000359308 | 42033611 | 42033795 | Frame-shift |
| ENST00000360079 | 42033611 | 42033795 | Frame-shift |
| ENST00000405878 | 42033611 | 42033795 | Frame-shift |
| ENST00000359308 | 42042899 | 42043086 | Frame-shift |
| ENST00000360079 | 42042899 | 42043086 | Frame-shift |
| ENST00000405878 | 42042899 | 42043086 | Frame-shift |
| ENST00000359308 | 42052906 | 42053036 | Frame-shift |
| ENST00000360079 | 42052906 | 42053036 | Frame-shift |
| ENST00000405878 | 42052906 | 42053036 | Frame-shift |
| ENST00000359308 | 42054255 | 42054356 | Frame-shift |
| ENST00000360079 | 42054255 | 42054356 | Frame-shift |
| ENST00000405878 | 42054255 | 42054356 | Frame-shift |
| ENST00000359308 | 42049532 | 42049694 | In-frame |
| ENST00000360079 | 42049532 | 42049694 | In-frame |
| ENST00000405878 | 42049532 | 42049694 | In-frame |
| ENST00000359308 | 42057334 | 42057448 | In-frame |
| ENST00000360079 | 42057334 | 42057448 | In-frame |
| ENST00000405878 | 42057334 | 42057448 | In-frame |
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Infer the effects of exon skipping event on protein functional features for XRCC6 |
| 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 |
| ENST00000359308 | 2726 | 609 | 42049532 | 42049694 | 1785 | 1946 | 376 | 430 |
| ENST00000360079 | 2313 | 609 | 42049532 | 42049694 | 1372 | 1533 | 376 | 430 |
| ENST00000405878 | 2217 | 609 | 42049532 | 42049694 | 1276 | 1437 | 376 | 430 |
| ENST00000359308 | 2726 | 609 | 42057334 | 42057448 | 2178 | 2291 | 507 | 545 |
| ENST00000360079 | 2313 | 609 | 42057334 | 42057448 | 1765 | 1878 | 507 | 545 |
| ENST00000405878 | 2217 | 609 | 42057334 | 42057448 | 1669 | 1782 | 507 | 545 |
| 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 |
| ENST00000359308 | 2726 | 609 | 42049532 | 42049694 | 1785 | 1946 | 376 | 430 |
| ENST00000360079 | 2313 | 609 | 42049532 | 42049694 | 1372 | 1533 | 376 | 430 |
| ENST00000405878 | 2217 | 609 | 42049532 | 42049694 | 1276 | 1437 | 376 | 430 |
| ENST00000359308 | 2726 | 609 | 42057334 | 42057448 | 2178 | 2291 | 507 | 545 |
| ENST00000360079 | 2313 | 609 | 42057334 | 42057448 | 1765 | 1878 | 507 | 545 |
| ENST00000405878 | 2217 | 609 | 42057334 | 42057448 | 1669 | 1782 | 507 | 545 |
| 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 |
| P12956 | 376 | 430 | 394 | 401 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 394 | 401 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 394 | 401 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 403 | 405 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 403 | 405 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 403 | 405 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 409 | 416 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 409 | 416 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 409 | 416 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 426 | 428 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 426 | 428 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 426 | 428 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 430 | 436 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 430 | 436 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 430 | 436 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 2 | 609 | Chain | ID=PRO_0000210179;Note=X-ray repair cross-complementing protein 6 |
| P12956 | 376 | 430 | 2 | 609 | Chain | ID=PRO_0000210179;Note=X-ray repair cross-complementing protein 6 |
| P12956 | 376 | 430 | 2 | 609 | Chain | ID=PRO_0000210179;Note=X-ray repair cross-complementing protein 6 |
| P12956 | 376 | 430 | 261 | 468 | Domain | Note=Ku |
| P12956 | 376 | 430 | 261 | 468 | Domain | Note=Ku |
| P12956 | 376 | 430 | 261 | 468 | Domain | Note=Ku |
| P12956 | 376 | 430 | 378 | 391 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 378 | 391 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 378 | 391 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 507 | 545 | 2 | 609 | Chain | ID=PRO_0000210179;Note=X-ray repair cross-complementing protein 6 |
| P12956 | 507 | 545 | 2 | 609 | Chain | ID=PRO_0000210179;Note=X-ray repair cross-complementing protein 6 |
| P12956 | 507 | 545 | 2 | 609 | Chain | ID=PRO_0000210179;Note=X-ray repair cross-complementing protein 6 |
| P12956 | 507 | 545 | 511 | 518 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 507 | 545 | 511 | 518 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 507 | 545 | 511 | 518 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 507 | 545 | 521 | 529 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 507 | 545 | 521 | 529 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 507 | 545 | 521 | 529 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 507 | 545 | 520 | 520 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:23186163 |
| P12956 | 507 | 545 | 520 | 520 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:23186163 |
| P12956 | 507 | 545 | 520 | 520 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:23186163 |
| 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 |
| P12956 | 376 | 430 | 394 | 401 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 394 | 401 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 394 | 401 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 403 | 405 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 403 | 405 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 403 | 405 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 409 | 416 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 409 | 416 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 409 | 416 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 426 | 428 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 426 | 428 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 426 | 428 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 430 | 436 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 430 | 436 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 430 | 436 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 2 | 609 | Chain | ID=PRO_0000210179;Note=X-ray repair cross-complementing protein 6 |
| P12956 | 376 | 430 | 2 | 609 | Chain | ID=PRO_0000210179;Note=X-ray repair cross-complementing protein 6 |
| P12956 | 376 | 430 | 2 | 609 | Chain | ID=PRO_0000210179;Note=X-ray repair cross-complementing protein 6 |
| P12956 | 376 | 430 | 261 | 468 | Domain | Note=Ku |
| P12956 | 376 | 430 | 261 | 468 | Domain | Note=Ku |
| P12956 | 376 | 430 | 261 | 468 | Domain | Note=Ku |
| P12956 | 376 | 430 | 378 | 391 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 378 | 391 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 376 | 430 | 378 | 391 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 507 | 545 | 2 | 609 | Chain | ID=PRO_0000210179;Note=X-ray repair cross-complementing protein 6 |
| P12956 | 507 | 545 | 2 | 609 | Chain | ID=PRO_0000210179;Note=X-ray repair cross-complementing protein 6 |
| P12956 | 507 | 545 | 2 | 609 | Chain | ID=PRO_0000210179;Note=X-ray repair cross-complementing protein 6 |
| P12956 | 507 | 545 | 511 | 518 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 507 | 545 | 511 | 518 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 507 | 545 | 511 | 518 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 507 | 545 | 521 | 529 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 507 | 545 | 521 | 529 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 507 | 545 | 521 | 529 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:1JEY |
| P12956 | 507 | 545 | 520 | 520 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:23186163 |
| P12956 | 507 | 545 | 520 | 520 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:23186163 |
| P12956 | 507 | 545 | 520 | 520 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:23186163;Dbxref=PMID:19690332,PMID:23186163 |
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SNVs in the skipped exons for XRCC6 |
| - 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. |
| - 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 |
| HNSC | TCGA-F7-A624-01 | exon_skip_365976 | 42024122 | 42024234 | 42024155 | 42024155 | Frame_Shift_Del | T | - | p.I39fs |
| STAD | TCGA-HU-8602-01 | exon_skip_365976 | 42024122 | 42024234 | 42024155 | 42024155 | Frame_Shift_Del | T | - | p.I39fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_365979 | 42033612 | 42033795 | 42033647 | 42033647 | Frame_Shift_Del | G | - | p.G210fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_365979 | 42033612 | 42033795 | 42033647 | 42033647 | Frame_Shift_Del | G | - | p.P208fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_365984 | 42052907 | 42053036 | 42052930 | 42052930 | Frame_Shift_Del | T | - | p.F439fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_365984 | 42052907 | 42053036 | 42052954 | 42052954 | Frame_Shift_Del | C | - | p.P447fs |
| LIHC | TCGA-FV-A2QR-01 | exon_skip_366000 | 42057335 | 42057448 | 42057392 | 42057407 | Frame_Shift_Del | AGCTTGTTTACCCACC | - | p.527_532del |
| LIHC | TCGA-FV-A2QR-01 | exon_skip_366000 | 42057335 | 42057448 | 42057392 | 42057407 | Frame_Shift_Del | AGCTTGTTTACCCACC | - | p.ELVYPP527fs |
| PRAD | TCGA-HC-7080-01 | exon_skip_365976 | 42024122 | 42024234 | 42024154 | 42024155 | Frame_Shift_Ins | - | T | p.F39fs |
| PRAD | TCGA-HC-7080-01 | exon_skip_365976 | 42024122 | 42024234 | 42024154 | 42024155 | Frame_Shift_Ins | - | T | p.I39fs |
| CESC | TCGA-EA-A410-01 | 42042900 | 42043086 | 42042909 | 42042910 | Frame_Shift_Ins | - | AA | p.L262fs | |
| STAD | TCGA-HU-A4H4-01 | exon_skip_365984 | 42052907 | 42053036 | 42052906 | 42052906 | Splice_Site | G | T | . |
| STAD | TCGA-HU-A4H4-01 | exon_skip_365984 | 42052907 | 42053036 | 42052906 | 42052906 | Splice_Site | G | T | p.G431_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42024122 | 42024234 | 42024155 | 42024155 | Frame_Shift_Del | T | - | p.I39fs |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 42033612 | 42033795 | 42033668 | 42033668 | Missense_Mutation | T | C | p.F216L |
| CW2_LARGE_INTESTINE | 42033612 | 42033795 | 42033687 | 42033687 | Missense_Mutation | G | A | p.S222N |
| NCIH1048_LUNG | 42042900 | 42043086 | 42043060 | 42043060 | Missense_Mutation | C | G | p.L312V |
| BB65EBV_MATCHED_NORMAL_TISSUE | 42049533 | 42049694 | 42049586 | 42049586 | Missense_Mutation | G | A | p.A395T |
| BB65RCC_KIDNEY | 42049533 | 42049694 | 42049586 | 42049586 | Missense_Mutation | G | A | p.A395T |
| JHUEM1_ENDOMETRIUM | 42049533 | 42049694 | 42049610 | 42049610 | Missense_Mutation | C | T | p.R403C |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42049533 | 42049694 | 42049611 | 42049611 | Missense_Mutation | G | A | p.R403H |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 42052907 | 42053036 | 42053024 | 42053024 | Missense_Mutation | G | T | p.R470L |
| HEC59_ENDOMETRIUM | 42054256 | 42054356 | 42054294 | 42054294 | Missense_Mutation | T | C | p.F487S |
| MEWO_SKIN | 42057335 | 42057448 | 42057371 | 42057371 | Missense_Mutation | C | T | p.S520F |
| MEWO_SKIN | 42057335 | 42057448 | 42057371 | 42057372 | Missense_Mutation | CC | TT | p.S520F |
| KM12_LARGE_INTESTINE | 42057335 | 42057448 | 42057403 | 42057403 | Missense_Mutation | C | T | p.P531S |
| KM12_LARGE_INTESTINE | 42024122 | 42024234 | 42024122 | 42024122 | Splice_Site | G | A | p.G28E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for XRCC6 |
| 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 XRCC6 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for XRCC6 |
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RelatedDrugs for XRCC6 |
| 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 XRCC6 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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