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Center for Computational Systems Medicine
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Gene summary

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Gene structures and expression levels

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Exon skipping events with PSIs in TCGA

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Exon skipping events with PSIs in GTEx

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Open reading frame (ORF) annotation in the exon skipping event

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Exon skipping events in the canonical protein sequence

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SNVs in the skipped exons with depth of coverage

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon

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Related drugs with this gene

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Related diseases with this gene

Gene summary for LIG1

check button Gene summary
Gene informationGene symbol

LIG1

Gene ID

3978

Gene nameDNA ligase 1
Synonyms-
Cytomap

19q13.33

Type of geneprotein-coding
DescriptionDNA ligase 1ligase I, DNA, ATP-dependentpolydeoxyribonucleotide synthase [ATP] 1
Modification date20180523
UniProtAcc

P18858

ContextPubMed: LIG1 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract]
- Title (PMID)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
LIG1

GO:0006284

base-excision repair

19589734

LIG1

GO:0033151

V(D)J recombination

9809069


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Exon skipping events across known transcript of Ensembl for LIG1 from UCSC genome browser

check buttonSkipped 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.
all structure

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Gene isoform structures and expression levels for LIG1

check button Expression levels of gene isoforms across TCGA.
gencode gene structure

check button Expression levels of gene isoforms across GTEx.
gencode gene structure


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Exon skipping events with PSIs in TCGA for LIG1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3201121948619129:48619222:48620894:48621038:48622393:4862244748620894:48621038ENSG00000105486.9ENST00000601091.1,ENST00000594067.1,ENST00000263274.7,ENST00000536218.1,ENST00000594759.1,ENST00000427526.2
exon_skip_3201141948620894:48621038:48622393:48622447:48624426:4862457948622393:48622447ENSG00000105486.9ENST00000594067.1,ENST00000263274.7,ENST00000536218.1,ENST00000427526.2
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENSG00000105486.9ENST00000601091.1,ENST00000594759.1
exon_skip_3201251948622393:48622447:48624426:48624579:48626190:4862627348624426:48624579ENSG00000105486.9ENST00000594067.1,ENST00000263274.7,ENST00000536218.1,ENST00000427526.2
exon_skip_3201321948624528:48624579:48626190:48626273:48626430:4862657548626190:48626273ENSG00000105486.9ENST00000601091.1,ENST00000594067.1,ENST00000263274.7,ENST00000536218.1,ENST00000596672.1,ENST00000594759.1,ENST00000596332.1,ENST00000427526.2
exon_skip_3201361948631166:48631277:48634332:48634428:48636238:4863635448634332:48634428ENSG00000105486.9ENST00000601091.1,ENST00000594067.1,ENST00000263274.7,ENST00000596457.1,ENST00000536218.1,ENST00000596672.1,ENST00000594759.1,ENST00000427526.2
exon_skip_3201381948634332:48634428:48636238:48636354:48638936:4863897948636238:48636354ENSG00000105486.9ENST00000596672.1
exon_skip_3201401948636238:48636354:48637237:48637323:48638936:4863897948637237:48637323ENSG00000105486.9ENST00000601091.1,ENST00000594067.1,ENST00000263274.7,ENST00000536218.1,ENST00000594759.1,ENST00000427526.2
exon_skip_3201411948639010:48639036:48639290:48639382:48640264:4864034148639290:48639382ENSG00000105486.9ENST00000601091.1,ENST00000594067.1,ENST00000263274.7,ENST00000536218.1,ENST00000594759.1,ENST00000427526.2,ENST00000597901.1
exon_skip_3201431948640264:48640341:48640778:48640945:48643227:4864340048640778:48640945ENSG00000105486.9ENST00000601091.1,ENST00000594067.1,ENST00000263274.7,ENST00000536218.1,ENST00000594759.1,ENST00000427526.2
exon_skip_3201441948640264:48640341:48640778:48641016:48643227:4864340048640778:48641016ENSG00000105486.9ENST00000542460.1
exon_skip_3201511948653388:48653467:48654488:48654593:48657128:4865722448654488:48654593ENSG00000105486.9ENST00000594759.1,ENST00000427526.2
exon_skip_3201531948653388:48653467:48654488:48654596:48657128:4865722448654488:48654596ENSG00000105486.9ENST00000601091.1,ENST00000596104.1,ENST00000263274.7,ENST00000595758.1
exon_skip_3201551948653388:48653467:48654488:48654642:48657128:4865722448654488:48654642ENSG00000105486.9ENST00000594067.1
exon_skip_3201651948654488:48654593:48657128:48657224:48660270:4866039748657128:48657224ENSG00000105486.9ENST00000594759.1,ENST00000427526.2
exon_skip_3201681948654488:48654596:48657128:48657224:48660270:4866039448657128:48657224ENSG00000105486.9ENST00000601091.1,ENST00000263274.7
exon_skip_3201711948657157:48657224:48660270:48660397:48664628:4866476448660270:48660397ENSG00000105486.9ENST00000593425.1,ENST00000601091.1,ENST00000263274.7,ENST00000594759.1,ENST00000427526.2
exon_skip_3201721948664694:48664764:48665518:48665608:48668806:4866888048665518:48665608ENSG00000105486.9ENST00000593425.1,ENST00000601091.1,ENST00000263274.7,ENST00000536218.1,ENST00000599165.1,ENST00000594759.1,ENST00000542460.1,ENST00000596549.1,ENST00000600055.1

check button PSI values of skipped exons in TCGA.
psi tcga

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Exon skipping events with PSIs in GTEx for LIG1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3201121948619129:48619222:48620894:48621038:48622393:4862244748620894:48621038ENSG00000105486.9ENST00000263274.7,ENST00000594759.1,ENST00000427526.2,ENST00000536218.1,ENST00000594067.1,ENST00000601091.1
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENSG00000105486.9ENST00000594759.1,ENST00000601091.1
exon_skip_3201251948622393:48622447:48624426:48624579:48626190:4862627348624426:48624579ENSG00000105486.9ENST00000263274.7,ENST00000427526.2,ENST00000536218.1,ENST00000594067.1
exon_skip_3201321948624528:48624579:48626190:48626273:48626430:4862657548626190:48626273ENSG00000105486.9ENST00000263274.7,ENST00000594759.1,ENST00000427526.2,ENST00000536218.1,ENST00000594067.1,ENST00000601091.1,ENST00000596672.1,ENST00000596332.1
exon_skip_3201361948631166:48631277:48634332:48634428:48636238:4863635448634332:48634428ENSG00000105486.9ENST00000263274.7,ENST00000594759.1,ENST00000427526.2,ENST00000536218.1,ENST00000594067.1,ENST00000601091.1,ENST00000596672.1,ENST00000596457.1
exon_skip_3201381948634332:48634428:48636238:48636354:48638936:4863897948636238:48636354ENSG00000105486.9ENST00000596672.1
exon_skip_3201401948636238:48636354:48637237:48637323:48638936:4863897948637237:48637323ENSG00000105486.9ENST00000263274.7,ENST00000594759.1,ENST00000427526.2,ENST00000536218.1,ENST00000594067.1,ENST00000601091.1
exon_skip_3201411948639010:48639036:48639290:48639382:48640264:4864034148639290:48639382ENSG00000105486.9ENST00000263274.7,ENST00000594759.1,ENST00000427526.2,ENST00000536218.1,ENST00000594067.1,ENST00000601091.1,ENST00000597901.1
exon_skip_3201431948640264:48640341:48640778:48640945:48643227:4864340048640778:48640945ENSG00000105486.9ENST00000263274.7,ENST00000594759.1,ENST00000427526.2,ENST00000536218.1,ENST00000594067.1,ENST00000601091.1
exon_skip_3201441948640264:48640341:48640778:48641016:48643227:4864340048640778:48641016ENSG00000105486.9ENST00000542460.1
exon_skip_3201511948653388:48653467:48654488:48654593:48657128:4865722448654488:48654593ENSG00000105486.9ENST00000594759.1,ENST00000427526.2
exon_skip_3201531948653388:48653467:48654488:48654596:48657128:4865722448654488:48654596ENSG00000105486.9ENST00000263274.7,ENST00000601091.1,ENST00000595758.1,ENST00000596104.1
exon_skip_3201541948653388:48653467:48654488:48654596:48660270:4866039448654488:48654596ENSG00000105486.9ENST00000542460.1
exon_skip_3201551948653388:48653467:48654488:48654642:48657128:4865722448654488:48654642ENSG00000105486.9ENST00000594067.1
exon_skip_3201651948654488:48654593:48657128:48657224:48660270:4866039748657128:48657224ENSG00000105486.9ENST00000594759.1,ENST00000427526.2
exon_skip_3201681948654488:48654596:48657128:48657224:48660270:4866039448657128:48657224ENSG00000105486.9ENST00000263274.7,ENST00000601091.1
exon_skip_3201711948657157:48657224:48660270:48660397:48664628:4866476448660270:48660397ENSG00000105486.9ENST00000263274.7,ENST00000594759.1,ENST00000427526.2,ENST00000601091.1,ENST00000593425.1
exon_skip_3201721948664694:48664764:48665518:48665608:48668806:4866888048665518:48665608ENSG00000105486.9ENST00000263274.7,ENST00000594759.1,ENST00000536218.1,ENST00000601091.1,ENST00000542460.1,ENST00000599165.1,ENST00000596549.1,ENST00000593425.1,ENST00000600055.1

check button PSI values of skipped exons in GTEx.
psi gtex

* Skipped exon sequences.

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Open reading frame (ORF) annotation in the exon skipping event for LIG1

check button Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002632744862619048626273Frame-shift
ENST000002632744863723748637323Frame-shift
ENST000002632744863929048639382Frame-shift
ENST000002632744864077848640945Frame-shift
ENST000002632744866027048660397Frame-shift
ENST000002632744862089448621038In-frame
ENST000002632744862239348622447In-frame
ENST000002632744862442648624579In-frame
ENST000002632744863433248634428In-frame
ENST000002632744865448848654596In-frame
ENST000002632744865712848657224In-frame
ENST000002632744866551848665608In-frame

check button Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000002632744862619048626273Frame-shift
ENST000002632744863723748637323Frame-shift
ENST000002632744863929048639382Frame-shift
ENST000002632744864077848640945Frame-shift
ENST000002632744866027048660397Frame-shift
ENST000002632744862089448621038In-frame
ENST000002632744862442648624579In-frame
ENST000002632744863433248634428In-frame
ENST000002632744865448848654596In-frame
ENST000002632744865712848657224In-frame
ENST000002632744866551848665608In-frame

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Infer the effects of exon skipping event on protein functional features for LIG1

check button Exon skipping at the protein sequence level and followed lost functional features.
* Click on the image to enlarge it in a new window.
prot feature distribution

check button Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000026327434019194866551848665608438527635
ENST0000026327434019194865712848657224791886123155
ENST0000026327434019194865448848654596887994155191
ENST000002632743401919486343324863442821462241575607
ENST000002632743401919486244264862457926532805744795
ENST000002632743401919486223934862244728062859795813
ENST000002632743401919486208944862103828603003813861

check button Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST0000026327434019194866551848665608438527635
ENST0000026327434019194865712848657224791886123155
ENST0000026327434019194865448848654596887994155191
ENST000002632743401919486343324863442821462241575607
ENST000002632743401919486244264862457926532805744795
ENST000002632743401919486208944862103828603003813861

check button 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 featureDescription of feature
P18858635736Alternative sequenceID=VSP_057320;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
P188586351919ChainID=PRO_0000059570;Note=DNA ligase 1
P188586352424Natural variantID=VAR_018802;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.2;Dbxref=dbSNP:rs3730855
P18858123155153153Alternative sequenceID=VSP_057321;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
P188581231551919ChainID=PRO_0000059570;Note=DNA ligase 1
P18858123155141141Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,E
P18858123155152152Natural variantID=VAR_036511;Note=In a colorectal cancer sample%3B somatic mutation. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs780748107,PMID:16959974
P188581551911919ChainID=PRO_0000059570;Note=DNA ligase 1
P18858575607563578Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858575607584587Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858575607589589Binding siteNote=ATP
P188585756071919ChainID=PRO_0000059570;Note=DNA ligase 1
P18858575607599603HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858575607606608HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858575607590590SiteNote=Interaction with target DNA
P18858575607595597TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858744795739746Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858744795755767Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858744795774784Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858744795789796Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858744795744744Binding siteNote=ATP;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1X9N,ECO:0000269|PubMed:15565146;Dbxref=PMID:15565146
P188587447951919ChainID=PRO_0000059570;Note=DNA ligase 1
P18858744795747751HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858744795771771Natural variantID=VAR_002263;Note=Found in a patient with a syndrome of immunodeficiency and increased cellular sensitivity to DNA-damaging agents due to LIG1 deficiency%3B compound heterozygote carrying K-566. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:
P18858744795770770SiteNote=Interaction with target DNA
P18858744795795795SiteNote=Interaction with target DNA
P18858744795785788TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858795813796801Alternative sequenceID=VSP_056139;Note=In isoform 2. LGTGFS->VLGNWG;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P18858795813802919Alternative sequenceID=VSP_056140;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P18858795813789796Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P188587958131919ChainID=PRO_0000059570;Note=DNA ligase 1
P18858795813802814HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858795813798798Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P18858795813801801Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P18858795813795795SiteNote=Interaction with target DNA
P18858813861802919Alternative sequenceID=VSP_056140;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P18858813861816819Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858813861827829Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858813861833836Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858813861841854Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P188588138611919ChainID=PRO_0000059570;Note=DNA ligase 1
P18858813861802814HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858813861819819Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P18858813861857861TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N


check button 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 featureDescription of feature
P18858635736Alternative sequenceID=VSP_057320;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
P188586351919ChainID=PRO_0000059570;Note=DNA ligase 1
P188586352424Natural variantID=VAR_018802;Note=A->V;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.2;Dbxref=dbSNP:rs3730855
P18858123155153153Alternative sequenceID=VSP_057321;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
P188581231551919ChainID=PRO_0000059570;Note=DNA ligase 1
P18858123155141141Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,E
P18858123155152152Natural variantID=VAR_036511;Note=In a colorectal cancer sample%3B somatic mutation. K->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16959974;Dbxref=dbSNP:rs780748107,PMID:16959974
P188581551911919ChainID=PRO_0000059570;Note=DNA ligase 1
P18858575607563578Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858575607584587Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858575607589589Binding siteNote=ATP
P188585756071919ChainID=PRO_0000059570;Note=DNA ligase 1
P18858575607599603HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858575607606608HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858575607590590SiteNote=Interaction with target DNA
P18858575607595597TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858744795739746Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858744795755767Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858744795774784Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858744795789796Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858744795744744Binding siteNote=ATP;Ontology_term=ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:1X9N,ECO:0000269|PubMed:15565146;Dbxref=PMID:15565146
P188587447951919ChainID=PRO_0000059570;Note=DNA ligase 1
P18858744795747751HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858744795771771Natural variantID=VAR_002263;Note=Found in a patient with a syndrome of immunodeficiency and increased cellular sensitivity to DNA-damaging agents due to LIG1 deficiency%3B compound heterozygote carrying K-566. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:
P18858744795770770SiteNote=Interaction with target DNA
P18858744795795795SiteNote=Interaction with target DNA
P18858744795785788TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858813861802919Alternative sequenceID=VSP_056140;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
P18858813861816819Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858813861827829Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858813861833836Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858813861841854Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P188588138611919ChainID=PRO_0000059570;Note=DNA ligase 1
P18858813861802814HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N
P18858813861819819Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
P18858813861857861TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:1X9N


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SNVs in the skipped exons for LIG1

check button - Lollipop plot for presenting exon skipping associated SNVs.
* Click on the image to enlarge it in a new window.
lollipop

check button - Differential PSIs between mutated versus non-mutated samples.

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A1EG-01exon_skip_320112
48620895486210384862096448620964Frame_Shift_DelG-p.P838fs
LIHCTCGA-DD-A39Y-01exon_skip_320140
48637238486373234863729348637293Frame_Shift_DelG-p.P518fs
LIHCTCGA-DD-A1EG-01exon_skip_320140
48637238486373234863731048637310Frame_Shift_DelG-p.L513fs
LIHCTCGA-DD-A39Y-01exon_skip_320141
48639291486393824863930948639309Frame_Shift_DelG-p.L469fs
LIHCTCGA-DD-A3A0-01exon_skip_320141
48639291486393824863932748639327Frame_Shift_DelG-p.L463fs
PCPGTCGA-WB-A822-01exon_skip_320141
48639291486393824863932748639327Frame_Shift_DelG-p.L463fs
LIHCTCGA-BC-A112-01exon_skip_320143
48640779486409454864089248640893Frame_Shift_Ins-Cp.G381fs
LIHCTCGA-BC-A112-01exon_skip_320144
48640779486410164864089248640893Frame_Shift_Ins-Cp.G381fs
COADTCGA-F4-6856-01exon_skip_320143
48640779486409454864086548640865Nonsense_MutationGAp.Q390X
COADTCGA-F4-6856-01exon_skip_320144
48640779486410164864086548640865Nonsense_MutationGAp.Q390X
LUADTCGA-44-6777-01exon_skip_320172
48665519486656084866553848665538Nonsense_MutationCAp.E30*

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
HEC6_ENDOMETRIUM48620895486210384862090248620902Missense_MutationCTp.R859Q
HS839T_FIBROBLAST48620895486210384862098148620981Missense_MutationCGp.D833H
SARC9371_BONE48620895486210384862098448620984Missense_MutationGAp.P832S
KALS1_CENTRAL_NERVOUS_SYSTEM48620895486210384862100548621005Missense_MutationGAp.R825W
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE48623424486245794862444048624440Missense_MutationTGp.Q791P
KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE48624427486245794862444048624440Missense_MutationTGp.Q791P
A427_LUNG48623424486245794862447148624471Missense_MutationCAp.A781S
A427_LUNG48624427486245794862447148624471Missense_MutationCAp.A781S
HEC151_ENDOMETRIUM48623424486245794862456848624568Missense_MutationGCp.D748E
HEC151_ENDOMETRIUM48624427486245794862456848624568Missense_MutationGCp.D748E
PLCPRF5_LIVER48634333486344284863442248634422Missense_MutationCGp.A578P
YKG1_CENTRAL_NERVOUS_SYSTEM48636239486363544863631948636319Missense_MutationGAp.R549W
HPBALL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE48637238486373234863729248637292Missense_MutationCAp.V519L
JHOM2B_OVARY48637238486373234863729248637292Missense_MutationCAp.V519L
LU139_LUNG48639291486393824863930548639305Missense_MutationGAp.T470M
KU812_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE48639291486393824863936348639363Missense_MutationGAp.R451C
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE48640779486409454864079248640792Missense_MutationACp.L414R
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE48640779486410164864079248640792Missense_MutationACp.L414R
HCT116_LARGE_INTESTINE48640779486409454864080548640805Missense_MutationCTp.D410N
HCT116_LARGE_INTESTINE48640779486410164864080548640805Missense_MutationCTp.D410N
HS229T_FIBROBLAST48640779486409454864084948640849Missense_MutationGAp.P395L
HS229T_FIBROBLAST48640779486410164864084948640849Missense_MutationGAp.P395L
SNU620_STOMACH48640779486409454864087448640874Missense_MutationGAp.R387C
SNU620_STOMACH48640779486410164864087448640874Missense_MutationGAp.R387C
HEC108_ENDOMETRIUM48640779486409454864090048640900Missense_MutationTCp.D378G
HEC108_ENDOMETRIUM48640779486410164864090048640900Missense_MutationTCp.D378G
JHUEM7_ENDOMETRIUM48654489486545934865452848654528Missense_MutationCTp.D179N
JHUEM7_ENDOMETRIUM48654489486545964865452848654528Missense_MutationCTp.D179N
JHUEM7_ENDOMETRIUM48654489486546424865452848654528Missense_MutationCTp.D179N
NCIH1341_LUNG48657129486572244865714148657141Missense_MutationTCp.K152E
LS411N_LARGE_INTESTINE48657129486572244865718548657185Missense_MutationAGp.L137P
CAL62_THYROID48657129486572244865718948657189Missense_MutationCTp.V136I
NCIH358_LUNG48657129486572244865722148657221Missense_MutationCAp.R125L
639V_URINARY_TRACT48665519486656084866552848665528Missense_MutationGAp.P33L
TUHR14TKB_KIDNEY48665519486656084866558348665583Missense_MutationCAp.G15C
SISO_CERVIX48660271486603974866027148660271Splice_SiteCTp.A124T

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for LIG1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENST00000601091.1,ENST00000594759.1CESCrs3731034chr19:48623440G/A9.77e-04
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENST00000601091.1,ENST00000594759.1ESCArs3731034chr19:48623440G/A9.83e-04
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENST00000601091.1,ENST00000594759.1KIRPrs3731030chr19:48623948G/A3.92e-05
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENST00000601091.1,ENST00000594759.1KIRPrs3731029chr19:48623953C/G3.92e-05
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENST00000601091.1,ENST00000594759.1LIHCrs3731034chr19:48623440G/A2.29e-07
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENST00000601091.1,ENST00000594759.1LIHCrs3731030chr19:48623948G/A2.46e-06
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENST00000601091.1,ENST00000594759.1LIHCrs3731029chr19:48623953C/G2.46e-06
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENST00000601091.1,ENST00000594759.1PCPGrs3731034chr19:48623440G/A8.14e-05
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENST00000601091.1,ENST00000594759.1PRADrs3731034chr19:48623440G/A1.02e-10
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENST00000601091.1,ENST00000594759.1PRADrs3731030chr19:48623948G/A3.34e-06
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENST00000601091.1,ENST00000594759.1PRADrs3731029chr19:48623953C/G3.34e-06
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENST00000601091.1,ENST00000594759.1THYMrs3731034chr19:48623440G/A1.49e-06
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENST00000601091.1,ENST00000594759.1THYMrs3731030chr19:48623948G/A1.23e-05
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENST00000601091.1,ENST00000594759.1THYMrs3731029chr19:48623953C/G1.23e-05
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENST00000601091.1,ENST00000594759.1THCArs3731034chr19:48623440G/A1.83e-14
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENST00000601091.1,ENST00000594759.1THCArs3731030chr19:48623948G/A1.67e-12
exon_skip_3201231948622393:48622447:48623423:48624579:48626190:4862627348623423:48624579ENST00000601091.1,ENST00000594759.1THCArs3731029chr19:48623953C/G1.67e-12
exon_skip_3201511948653388:48653467:48654488:48654593:48657128:4865722448654488:48654593ENST00000594759.1,ENST00000427526.2CESCrs20580chr19:48654553G/T4.80e-04
exon_skip_3201511948653388:48653467:48654488:48654593:48657128:4865722448654488:48654593ENST00000594759.1,ENST00000427526.2COADrs20580chr19:48654553G/T1.08e-03
exon_skip_3201511948653388:48653467:48654488:48654593:48657128:4865722448654488:48654593ENST00000594759.1,ENST00000427526.2BLCArs20580chr19:48654553G/T4.75e-04
exon_skip_3201511948653388:48653467:48654488:48654593:48657128:4865722448654488:48654593ENST00000594759.1,ENST00000427526.2HNSCrs20580chr19:48654553G/T6.86e-04
exon_skip_3201511948653388:48653467:48654488:48654593:48657128:4865722448654488:48654593ENST00000594759.1,ENST00000427526.2BRCArs20580chr19:48654553G/T1.11e-04
exon_skip_3201511948653388:48653467:48654488:48654593:48657128:4865722448654488:48654593ENST00000594759.1,ENST00000427526.2STADrs20580chr19:48654553G/T5.67e-04
exon_skip_3201511948653388:48653467:48654488:48654593:48657128:4865722448654488:48654593ENST00000594759.1,ENST00000427526.2THCArs20580chr19:48654553G/T5.39e-05
exon_skip_3201531948653388:48653467:48654488:48654596:48657128:4865722448654488:48654596ENST00000601091.1,ENST00000596104.1,ENST00000263274.7,ENST00000595758.1CESCrs20580chr19:48654553G/T4.80e-04
exon_skip_3201531948653388:48653467:48654488:48654596:48657128:4865722448654488:48654596ENST00000601091.1,ENST00000596104.1,ENST00000263274.7,ENST00000595758.1COADrs20580chr19:48654553G/T1.08e-03
exon_skip_3201531948653388:48653467:48654488:48654596:48657128:4865722448654488:48654596ENST00000601091.1,ENST00000596104.1,ENST00000263274.7,ENST00000595758.1BLCArs20580chr19:48654553G/T4.75e-04
exon_skip_3201531948653388:48653467:48654488:48654596:48657128:4865722448654488:48654596ENST00000601091.1,ENST00000596104.1,ENST00000263274.7,ENST00000595758.1HNSCrs20580chr19:48654553G/T6.86e-04
exon_skip_3201531948653388:48653467:48654488:48654596:48657128:4865722448654488:48654596ENST00000601091.1,ENST00000596104.1,ENST00000263274.7,ENST00000595758.1BRCArs20580chr19:48654553G/T1.11e-04
exon_skip_3201531948653388:48653467:48654488:48654596:48657128:4865722448654488:48654596ENST00000601091.1,ENST00000596104.1,ENST00000263274.7,ENST00000595758.1STADrs20580chr19:48654553G/T5.67e-04
exon_skip_3201531948653388:48653467:48654488:48654596:48657128:4865722448654488:48654596ENST00000601091.1,ENST00000596104.1,ENST00000263274.7,ENST00000595758.1THCArs20580chr19:48654553G/T5.39e-05
exon_skip_3201551948653388:48653467:48654488:48654642:48657128:4865722448654488:48654642ENST00000594067.1CESCrs20580chr19:48654553G/T4.80e-04
exon_skip_3201551948653388:48653467:48654488:48654642:48657128:4865722448654488:48654642ENST00000594067.1COADrs20580chr19:48654553G/T1.08e-03
exon_skip_3201551948653388:48653467:48654488:48654642:48657128:4865722448654488:48654642ENST00000594067.1BLCArs20580chr19:48654553G/T4.75e-04
exon_skip_3201551948653388:48653467:48654488:48654642:48657128:4865722448654488:48654642ENST00000594067.1HNSCrs20580chr19:48654553G/T6.86e-04
exon_skip_3201551948653388:48653467:48654488:48654642:48657128:4865722448654488:48654642ENST00000594067.1BRCArs20580chr19:48654553G/T1.11e-04
exon_skip_3201551948653388:48653467:48654488:48654642:48657128:4865722448654488:48654642ENST00000594067.1STADrs20580chr19:48654553G/T5.67e-04
exon_skip_3201551948653388:48653467:48654488:48654642:48657128:4865722448654488:48654642ENST00000594067.1THCArs20580chr19:48654553G/T5.39e-05
exon_skip_3201141948620894:48621038:48622393:48622447:48624426:4862457948622393:48622447ENST00000594067.1,ENST00000263274.7,ENST00000536218.1,ENST00000427526.2BRCArs20581chr19:48622427A/G1.59e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LIG1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for LIG1


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RelatedDrugs for LIG1

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
P18858DB00290BleomycinDNA ligase 1small moleculeapproved|investigational

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RelatedDiseases for LIG1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
LIG1C0005695Bladder Neoplasm1CTD_human