Exon skip ID | chr | Exons involved in exon skipping | Skipped exon |
exon_skip_112563 | chr16 | 84700040:84700111:84733053:84733105:84733448:84733503 | 84733053:84733105 |
exon_skip_130888 | chr16 | 84700004:84700111:84704740:84704860:84733435:84733503 | 84704740:84704860 |
exon_skip_132246 | chr16 | 84733448:84733503:84740309:84740369:84744633:84744780 | 84740309:84740369 |
exon_skip_133796 | chr16 | 84700040:84700111:84733053:84733105:84733435:84733503 | 84733053:84733105 |
exon_skip_163277 | chr16 | 84700040:84700111:84732468:84732589:84733435:84733503 | 84732468:84732589 |
exon_skip_167212 | chr16 | 84700040:84700111:84704740:84704860:84716195:84716518 | 84704740:84704860 |
exon_skip_182494 | chr16 | 84733209:84733503:84740309:84740369:84744633:84744911 | 84740309:84740369 |
exon_skip_191066 | chr16 | 84700040:84700111:84733435:84733503:84740309:84740312 | 84733435:84733503 |
exon_skip_192234 | chr16 | 84700040:84700111:84733435:84733503:84758716:84758807 | 84733435:84733503 |
exon_skip_194433 | chr16 | 84700004:84700111:84733053:84733105:84733435:84733503 | 84733053:84733105 |
exon_skip_19974 | chr16 | 84700040:84700111:84733435:84733503:84744633:84744780 | 84733435:84733503 |
exon_skip_217044 | chr16 | 84733448:84733503:84740309:84740369:84758716:84758807 | 84740309:84740369 |
exon_skip_220593 | chr16 | 84768267:84768358:84772541:84772685:84775160:84775225 | 84772541:84772685 |
exon_skip_267420 | chr16 | 84700040:84700111:84704740:84704860:84733435:84733503 | 84704740:84704860 |
exon_skip_291689 | chr16 | 84740309:84740369:84744633:84745673:84758716:84758807 | 84744633:84745673 |
exon_skip_33598 | chr16 | 84733455:84733503:84740309:84740369:84744633:84744780 | 84740309:84740369 |
exon_skip_5401 | chr16 | 84772541:84772685:84775160:84775225:84778895:84778987 | 84775160:84775225 |
exon_skip_58285 | chr16 | 84768267:84768358:84772541:84772685:84778895:84778987 | 84772541:84772685 |
exon_skip_59262 | chr16 | 84744633:84745673:84759891:84759946:84760172:84760236 | 84759891:84759946 |
exon_skip_71600 | chr16 | 84768267:84768358:84775160:84775225:84778895:84778987 | 84775160:84775225 |
exon_skip_9609 | chr16 | 84700040:84700111:84704740:84704860:84716195:84716258 | 84704740:84704860 |
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 |
Q14694 | 51 | 397 | 2 | 798 | Chain | ID=PRO_0000080629;Note=Ubiquitin carboxyl-terminal hydrolase 10 |
Q14694 | 51 | 397 | 100 | 100 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
Q14694 | 51 | 397 | 211 | 211 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P52479 |
Q14694 | 51 | 397 | 226 | 226 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
Q14694 | 51 | 397 | 321 | 321 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q14694 | 51 | 397 | 337 | 337 | Modified residue | Note=Phosphoserine%3B by ATM;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20096447;Dbxref=PMID:20096447 |
Q14694 | 51 | 397 | 365 | 365 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:24275569;Dbxref=PMID:16964243,PMID:20068231,PMID:24275569 |
Q14694 | 51 | 397 | 370 | 370 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:20068231,PMID |
Q14694 | 51 | 397 | 337 | 337 | Mutagenesis | Note=Abolishes phosphorylation by ATM%3B when associated with A-42. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20096447;Dbxref=PMID:20096447 |
Q14694 | 51 | 397 | 337 | 337 | Mutagenesis | Note=Phospho-mimetic mutant that translocates to the nucleus in absence of genotoxic stress%3B when associated with E-42. S->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20096447;Dbxref=PMID:20096447 |
Q14694 | 51 | 397 | 200 | 200 | Natural variant | ID=VAR_015859;Note=M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17974005;Dbxref=dbSNP:rs1862792,PMID:17974005 |
Q14694 | 51 | 397 | 203 | 203 | Natural variant | ID=VAR_015860;Note=S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2326391,PMID:15489334 |
Q14694 | 51 | 397 | 204 | 204 | Natural variant | ID=VAR_015861;Note=V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs1812061,PMID:15489334 |
Q14694 | 51 | 397 | 2 | 100 | Region | Note=Interaction with p53/TP53;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20096447;Dbxref=PMID:20096447 |
Q14694 | 51 | 397 | 108 | 108 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q14694 | 51 | 397 | 263 | 263 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q14694 | 715 | 736 | 2 | 798 | Chain | ID=PRO_0000080629;Note=Ubiquitin carboxyl-terminal hydrolase 10 |
Q14694 | 715 | 736 | 415 | 795 | Domain | Note=USP |
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 |
Q14694 | 51 | 397 | 2 | 798 | Chain | ID=PRO_0000080629;Note=Ubiquitin carboxyl-terminal hydrolase 10 |
Q14694 | 51 | 397 | 100 | 100 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
Q14694 | 51 | 397 | 211 | 211 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:P52479 |
Q14694 | 51 | 397 | 226 | 226 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
Q14694 | 51 | 397 | 321 | 321 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569 |
Q14694 | 51 | 397 | 337 | 337 | Modified residue | Note=Phosphoserine%3B by ATM;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20096447;Dbxref=PMID:20096447 |
Q14694 | 51 | 397 | 365 | 365 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:24275569;Dbxref=PMID:16964243,PMID:20068231,PMID:24275569 |
Q14694 | 51 | 397 | 370 | 370 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:20068231,PMID |
Q14694 | 51 | 397 | 337 | 337 | Mutagenesis | Note=Abolishes phosphorylation by ATM%3B when associated with A-42. S->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20096447;Dbxref=PMID:20096447 |
Q14694 | 51 | 397 | 337 | 337 | Mutagenesis | Note=Phospho-mimetic mutant that translocates to the nucleus in absence of genotoxic stress%3B when associated with E-42. S->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20096447;Dbxref=PMID:20096447 |
Q14694 | 51 | 397 | 200 | 200 | Natural variant | ID=VAR_015859;Note=M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:17974005;Dbxref=dbSNP:rs1862792,PMID:17974005 |
Q14694 | 51 | 397 | 203 | 203 | Natural variant | ID=VAR_015860;Note=S->P;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs2326391,PMID:15489334 |
Q14694 | 51 | 397 | 204 | 204 | Natural variant | ID=VAR_015861;Note=V->L;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs1812061,PMID:15489334 |
Q14694 | 51 | 397 | 2 | 100 | Region | Note=Interaction with p53/TP53;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20096447;Dbxref=PMID:20096447 |
Q14694 | 51 | 397 | 108 | 108 | Sequence conflict | Note=A->V;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q14694 | 51 | 397 | 263 | 263 | Sequence conflict | Note=T->A;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
Q14694 | 715 | 736 | 2 | 798 | Chain | ID=PRO_0000080629;Note=Ubiquitin carboxyl-terminal hydrolase 10 |
Q14694 | 715 | 736 | 415 | 795 | Domain | Note=USP |