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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 NIPBL

check button Gene summary
Gene informationGene symbol

NIPBL

Gene ID

25836

Gene nameNIPBL, cohesin loading factor
SynonymsCDLS|CDLS1|IDN3|IDN3-B|Scc2
Cytomap

5p13.2

Type of geneprotein-coding
Descriptionnipped-B-like proteinNipped-B homologSCC2 homologdelanginsister chromatid cohesion 2 homolog
Modification date20180527
UniProtAcc

Q6KC79

ContextPubMed: NIPBL [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
NIPBL

GO:0000122

negative regulation of transcription by RNA polymerase II

18854353

NIPBL

GO:0031065

positive regulation of histone deacetylation

18854353

NIPBL

GO:0045892

negative regulation of transcription, DNA-templated

18854353

NIPBL

GO:0071921

cohesin loading

22628566


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Exon skipping events across known transcript of Ensembl for NIPBL 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 NIPBL

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 NIPBL

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_434482536975877:36976504:36984777:36986403:36995723:3699590636984777:36986403ENSG00000164190.12ENST00000504430.1,ENST00000282516.8,ENST00000448238.2
exon_skip_434483536984777:36986403:36995723:36995906:37000474:3700060836995723:36995906ENSG00000164190.12ENST00000282516.8,ENST00000448238.2
exon_skip_434488536995851:36995906:37000474:37000672:37000918:3700099037000474:37000672ENSG00000164190.12ENST00000282516.8,ENST00000448238.2
exon_skip_434489537024686:37024821:37026330:37026429:37027460:3702751437026330:37026429ENSG00000164190.12ENST00000282516.8,ENST00000448238.2
exon_skip_434490537027460:37027514:37036480:37036589:37038703:3703884037036480:37036589ENSG00000164190.12ENST00000282516.8,ENST00000448238.2
exon_skip_434494537051880:37051988:37052467:37052668:37057287:3705743437052467:37052668ENSG00000164190.12ENST00000282516.8,ENST00000448238.2,ENST00000514335.1
exon_skip_434495537052467:37052668:37057287:37057434:37058992:3705926737057287:37057434ENSG00000164190.12ENST00000282516.8,ENST00000448238.2,ENST00000514335.1
exon_skip_434501537057287:37057434:37058992:37059267:37060945:3706112037058992:37059267ENSG00000164190.12ENST00000282516.8,ENST00000448238.2,ENST00000514335.1
exon_skip_434505537059004:37059267:37060945:37061120:37063891:3706408037060945:37061120ENSG00000164190.12ENST00000282516.8,ENST00000448238.2,ENST00000514335.1

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

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Exon skipping events with PSIs in GTEx for NIPBL

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_434482536975877:36976504:36984777:36986403:36995723:3699590636984777:36986403ENSG00000164190.12ENST00000282516.8,ENST00000448238.2,ENST00000504430.1
exon_skip_434483536984777:36986403:36995723:36995906:37000474:3700060836995723:36995906ENSG00000164190.12ENST00000282516.8,ENST00000448238.2
exon_skip_434488536995851:36995906:37000474:37000672:37000918:3700099037000474:37000672ENSG00000164190.12ENST00000282516.8,ENST00000448238.2
exon_skip_434489537024686:37024821:37026330:37026429:37027460:3702751437026330:37026429ENSG00000164190.12ENST00000282516.8,ENST00000448238.2
exon_skip_434490537027460:37027514:37036480:37036589:37038703:3703884037036480:37036589ENSG00000164190.12ENST00000282516.8,ENST00000448238.2
exon_skip_434494537051880:37051988:37052467:37052668:37057287:3705743437052467:37052668ENSG00000164190.12ENST00000282516.8,ENST00000448238.2,ENST00000514335.1
exon_skip_434495537052467:37052668:37057287:37057434:37058992:3705926737057287:37057434ENSG00000164190.12ENST00000282516.8,ENST00000448238.2,ENST00000514335.1
exon_skip_434501537057287:37057434:37058992:37059267:37060945:3706112037058992:37059267ENSG00000164190.12ENST00000282516.8,ENST00000448238.2,ENST00000514335.1
exon_skip_434505537059004:37059267:37060945:37061120:37063891:3706408037060945:37061120ENSG00000164190.12ENST00000282516.8,ENST00000448238.2,ENST00000514335.1

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 NIPBL

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
ENST000002825163703648037036589Frame-shift
ENST000002825163705899237059267Frame-shift
ENST000002825163706094537061120Frame-shift
ENST000002825163698477736986403In-frame
ENST000002825163699572336995906In-frame
ENST000002825163700047437000672In-frame
ENST000002825163702633037026429In-frame
ENST000002825163705246737052668In-frame
ENST000002825163705728737057434In-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
ENST000002825163703648037036589Frame-shift
ENST000002825163705899237059267Frame-shift
ENST000002825163706094537061120Frame-shift
ENST000002825163698477736986403In-frame
ENST000002825163699572336995906In-frame
ENST000002825163700047437000672In-frame
ENST000002825163702633037026429In-frame
ENST000002825163705246737052668In-frame
ENST000002825163705728737057434In-frame

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

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
ENST000002825161045228043698477736986403199536204981040
ENST0000028251610452280436995723369959063621380310401101
ENST0000028251610452280437000474370006723804400111011167
ENST0000028251610452280437026330370264296209630719031936
ENST0000028251610452280437052467370526687562776223542421
ENST0000028251610452280437057287370574347763790924212470

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
ENST000002825161045228043698477736986403199536204981040
ENST0000028251610452280436995723369959063621380310401101
ENST0000028251610452280437000474370006723804400111011167
ENST0000028251610452280437026330370264296209630719031936
ENST0000028251610452280437052467370526687562776223542421
ENST0000028251610452280437057287370574347763790924212470

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
Q6KC79498104012804ChainID=PRO_0000218596;Note=Nipped-B-like protein
Q6KC794981040713713Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:17081983;Dbxref=PMID:17081983
Q6KC794981040746746Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:17081983;Dbxref=PMID:17081983
Q6KC794981040912912Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q6KC7949810409961009MotifNote=PxVxL motif;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20562864,ECO:0000269|PubMed:28167679;Dbxref=PMID:20562864,PMID:28167679
Q6KC79498104010031003MutagenesisNote=Abolishes interaction with CBX3%3B when associated with A-1005. V->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20562864,ECO:0000269|PubMed:28167679;Dbxref=PMID:20562864,PMID:28167679
Q6KC79498104010031003MutagenesisNote=Abolishes interaction with CBX5%3B when associated with E-1005. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20562864;Dbxref=PMID:20562864
Q6KC79498104010051005MutagenesisNote=Abolishes interaction with CBX3%3B when associated with A-1003. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20562864;Dbxref=PMID:20562864
Q6KC79498104010051005MutagenesisNote=Abolishes interaction with CBX5%3B when associated with E-1003. L->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20562864;Dbxref=PMID:20562864
Q6KC794981040674674Natural variantID=VAR_021596;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15318302;Dbxref=dbSNP:rs3822471,PMID:15318302
Q6KC794981040868868Natural variantID=VAR_073008;Note=In CDLS1. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23254390;Dbxref=dbSNP:rs149629686,PMID:23254390
Q6KC794981040548548Sequence conflictNote=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6KC794981040548548Sequence conflictNote=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6KC794981040574574Sequence conflictNote=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6KC794981040574574Sequence conflictNote=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6KC794981040648648Sequence conflictNote=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6KC794981040648648Sequence conflictNote=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6KC791040110112804ChainID=PRO_0000218596;Note=Nipped-B-like protein
Q6KC791040110110821082Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6KCD5
Q6KC791040110110891089Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332
Q6KC791040110110901090Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332
Q6KC791040110110961096Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:21406692;Dbxref=PMID:17081983,PMID:18669648,PMID:19690332,PMID
Q6KC791101116711022804Alternative sequenceID=VSP_011091;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q6KC791101116712804ChainID=PRO_0000218596;Note=Nipped-B-like protein
Q6KC791101116711501150Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:19690332,PMID:21406692
Q6KC791101116711521152Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:21406692
Q6KC791101116711541154Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:21406692
Q6KC791101116711591159Modified residueNote=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6KCD5
Q6KC791101116711601160Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:21406692
Q6KC791903193611022804Alternative sequenceID=VSP_011091;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q6KC791903193612804ChainID=PRO_0000218596;Note=Nipped-B-like protein
Q6KC792354242111022804Alternative sequenceID=VSP_011091;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q6KC792354242112804ChainID=PRO_0000218596;Note=Nipped-B-like protein
Q6KC792354242123812381Natural variantID=VAR_021606;Note=In CDLS1. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15318302;Dbxref=PMID:15318302
Q6KC792354242123902390Natural variantID=VAR_021607;Note=In CDLS1. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15318302;Dbxref=dbSNP:rs587784036,PMID:15318302
Q6KC792421247011022804Alternative sequenceID=VSP_011091;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q6KC792421247012804ChainID=PRO_0000218596;Note=Nipped-B-like protein
Q6KC792421247024302430Natural variantID=VAR_019521;Note=In CDLS1. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15146185;Dbxref=dbSNP:rs121918265,PMID:15146185
Q6KC792421247024332433Natural variantID=VAR_073018;Note=In CDLS1. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23254390;Dbxref=PMID:23254390
Q6KC792421247024402440Natural variantID=VAR_021608;Note=In CDLS1. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15318302;Dbxref=PMID:15318302


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
Q6KC79498104012804ChainID=PRO_0000218596;Note=Nipped-B-like protein
Q6KC794981040713713Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:17081983;Dbxref=PMID:17081983
Q6KC794981040746746Modified residueNote=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:17081983;Dbxref=PMID:17081983
Q6KC794981040912912Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163
Q6KC7949810409961009MotifNote=PxVxL motif;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20562864,ECO:0000269|PubMed:28167679;Dbxref=PMID:20562864,PMID:28167679
Q6KC79498104010031003MutagenesisNote=Abolishes interaction with CBX3%3B when associated with A-1005. V->A;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:20562864,ECO:0000269|PubMed:28167679;Dbxref=PMID:20562864,PMID:28167679
Q6KC79498104010031003MutagenesisNote=Abolishes interaction with CBX5%3B when associated with E-1005. V->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20562864;Dbxref=PMID:20562864
Q6KC79498104010051005MutagenesisNote=Abolishes interaction with CBX3%3B when associated with A-1003. L->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20562864;Dbxref=PMID:20562864
Q6KC79498104010051005MutagenesisNote=Abolishes interaction with CBX5%3B when associated with E-1003. L->E;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:20562864;Dbxref=PMID:20562864
Q6KC794981040674674Natural variantID=VAR_021596;Note=N->S;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15318302;Dbxref=dbSNP:rs3822471,PMID:15318302
Q6KC794981040868868Natural variantID=VAR_073008;Note=In CDLS1. R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23254390;Dbxref=dbSNP:rs149629686,PMID:23254390
Q6KC794981040548548Sequence conflictNote=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6KC794981040548548Sequence conflictNote=A->T;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6KC794981040574574Sequence conflictNote=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6KC794981040574574Sequence conflictNote=N->S;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6KC794981040648648Sequence conflictNote=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6KC794981040648648Sequence conflictNote=T->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q6KC791040110112804ChainID=PRO_0000218596;Note=Nipped-B-like protein
Q6KC791040110110821082Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6KCD5
Q6KC791040110110891089Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332
Q6KC791040110110901090Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332;Dbxref=PMID:18669648,PMID:19690332
Q6KC791040110110961096Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:17081983,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:21406692;Dbxref=PMID:17081983,PMID:18669648,PMID:19690332,PMID
Q6KC791101116711022804Alternative sequenceID=VSP_011091;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q6KC791101116712804ChainID=PRO_0000218596;Note=Nipped-B-like protein
Q6KC791101116711501150Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:19690332,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:19690332,PMID:21406692
Q6KC791101116711521152Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:21406692
Q6KC791101116711541154Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:21406692
Q6KC791101116711591159Modified residueNote=Phosphotyrosine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q6KCD5
Q6KC791101116711601160Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:21406692;Dbxref=PMID:18669648,PMID:21406692
Q6KC791903193611022804Alternative sequenceID=VSP_011091;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q6KC791903193612804ChainID=PRO_0000218596;Note=Nipped-B-like protein
Q6KC792354242111022804Alternative sequenceID=VSP_011091;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q6KC792354242112804ChainID=PRO_0000218596;Note=Nipped-B-like protein
Q6KC792354242123812381Natural variantID=VAR_021606;Note=In CDLS1. G->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15318302;Dbxref=PMID:15318302
Q6KC792354242123902390Natural variantID=VAR_021607;Note=In CDLS1. A->T;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15318302;Dbxref=dbSNP:rs587784036,PMID:15318302
Q6KC792421247011022804Alternative sequenceID=VSP_011091;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q6KC792421247012804ChainID=PRO_0000218596;Note=Nipped-B-like protein
Q6KC792421247024302430Natural variantID=VAR_019521;Note=In CDLS1. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15146185;Dbxref=dbSNP:rs121918265,PMID:15146185
Q6KC792421247024332433Natural variantID=VAR_073018;Note=In CDLS1. D->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:23254390;Dbxref=PMID:23254390
Q6KC792421247024402440Natural variantID=VAR_021608;Note=In CDLS1. Y->H;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:15318302;Dbxref=PMID:15318302


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SNVs in the skipped exons for NIPBL

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.
NIPBL_COAD_exon_skip_434488_psi_boxplot.png
boxplot
NIPBL_STAD_exon_skip_434488_psi_boxplot.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
COADTCGA-A6-5665-01exon_skip_434482
36984778369864033698478936984789Frame_Shift_DelA-p.L502fs
COADTCGA-G4-6304-01exon_skip_434482
36984778369864033698478936984789Frame_Shift_DelA-p.L502fs
THYMTCGA-ZB-A966-01exon_skip_434482
36984778369864033698478936984789Frame_Shift_DelA-p.K504fs
THYMTCGA-ZB-A966-01exon_skip_434482
36984778369864033698478936984789Frame_Shift_DelA-p.L502fs
THYMTCGA-ZB-A966-01exon_skip_434482
36984778369864033698478936984789Frame_Shift_DelA-p.R505fs
LIHCTCGA-G3-A3CJ-01exon_skip_434482
36984778369864033698488236984882Frame_Shift_DelG-p.G534fs
LUADTCGA-86-A4JF-01exon_skip_434482
36984778369864033698497436984974Frame_Shift_DelA-p.I564fs
UCECTCGA-D1-A163-01exon_skip_434482
36984778369864033698497436984974Frame_Shift_DelA-p.I564fs
COADTCGA-A6-5661-01exon_skip_434482
36984778369864033698508336985083Frame_Shift_DelA-p.P600fs
COADTCGA-G4-6628-01exon_skip_434482
36984778369864033698508336985083Frame_Shift_DelA-p.P600fs
LIHCTCGA-CC-A3MC-01exon_skip_434482
36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
STADTCGA-MX-A5UJ-01exon_skip_434482
36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
UCECTCGA-AP-A0LP-01exon_skip_434482
36984778369864033698508336985083Frame_Shift_DelA-p.K601fs
UCECTCGA-B5-A0K9-01exon_skip_434482
36984778369864033698508336985083Frame_Shift_DelA-p.K601fs
UCECTCGA-D1-A0ZS-01exon_skip_434482
36984778369864033698508336985083Frame_Shift_DelA-p.K601fs
UCECTCGA-D1-A17M-01exon_skip_434482
36984778369864033698508336985083Frame_Shift_DelA-p.K601fs
LIHCTCGA-G3-A3CJ-01exon_skip_434482
36984778369864033698530036985300Frame_Shift_DelA-p.Q673fs
LIHCTCGA-G3-A3CJ-01exon_skip_434482
36984778369864033698533136985331Frame_Shift_DelA-p.P683fs
LIHCTCGA-DD-A3A0-01exon_skip_434482
36984778369864033698539636985396Frame_Shift_DelA-p.Q705fs
ESCATCGA-L5-A8NM-01exon_skip_434482
36984778369864033698545336985453Frame_Shift_DelC-p.P725fs
LIHCTCGA-DD-A39Y-01exon_skip_434482
36984778369864033698552836985528Frame_Shift_DelA-p.Q749fs
STADTCGA-BR-4362-01exon_skip_434482
36984778369864033698552836985528Frame_Shift_DelA-p.Q749fs
KIRCTCGA-MW-A4EC-01exon_skip_434482
36984778369864033698578536985785Frame_Shift_DelG-p.R834fs
KIRCTCGA-B8-5549-01exon_skip_434482
36984778369864033698591536985915Frame_Shift_DelG-p.R878fs
COADTCGA-G4-6309-01exon_skip_434482
36984778369864033698612036986120Frame_Shift_DelG-p.L946fs
KIRPTCGA-P4-A5E8-01exon_skip_434482
36984778369864033698620136986204Frame_Shift_DelAAAG-p.973_974del
KIRPTCGA-P4-A5E8-01exon_skip_434482
36984778369864033698620136986204Frame_Shift_DelAAAG-p.T973fs
KIRPTCGA-2Z-A9J8-01exon_skip_434483
36995724369959063699572736995743Frame_Shift_DelGTATAGATCAATCAGTG-p.1042_1047del
LIHCTCGA-DD-A3A0-01exon_skip_434483
36995724369959063699585136995851Frame_Shift_DelA-p.P1083fs
LIHCTCGA-DD-A39Y-01exon_skip_434488
37000475370006723700054637000546Frame_Shift_DelG-p.G1126fs
LIHCTCGA-G3-A3CJ-01exon_skip_434488
37000475370006723700056037000560Frame_Shift_DelA-p.R1130fs
BRCATCGA-D8-A1JN-01exon_skip_434489
37026331370264293702638137026394Frame_Shift_DelCAATGACAAAGAAG-p.E1924fs
LIHCTCGA-DD-A1EG-01exon_skip_434490
37036481370365893703652337036523Frame_Shift_DelA-p.K1969fs
LIHCTCGA-G3-A3CJ-01exon_skip_434490
37036481370365893703652337036523Frame_Shift_DelA-p.K1969fs
LUSCTCGA-66-2771-01exon_skip_434490
37036481370365893703654237036542Frame_Shift_DelT-p.V1975fs
LIHCTCGA-DD-A1EG-01exon_skip_434501
37058993370592673705902237059022Frame_Shift_DelA-p.R2480fs
LIHCTCGA-DD-A39Y-01exon_skip_434501
37058993370592673705913937059139Frame_Shift_DelA-p.I2519fs
UCECTCGA-AX-A05Y-01exon_skip_434505
37060946370611203706100637061006Frame_Shift_DelA-p.R2582fs
LIHCTCGA-DD-A3A0-01exon_skip_434505
37060946370611203706102137061021Frame_Shift_DelT-p.H2587fs
UCECTCGA-AP-A0LH-01exon_skip_434482
36984778369864033698489336984894Frame_Shift_Ins-Gp.P537fs
UCECTCGA-AP-A0LH-01exon_skip_434482
36984778369864033698503236985033Frame_Shift_Ins-Ap.D584fs
LGGTCGA-DU-7306-01exon_skip_434482
36984778369864033698611936986120Frame_Shift_Ins-Gp.L946fs
LGGTCGA-DU-7306-01exon_skip_434482
36984778369864033698611936986120Frame_Shift_Ins-Gp.W946fs
UCECTCGA-BG-A0M9-01exon_skip_434482
36984778369864033698611936986120Frame_Shift_Ins-Gp.L946fs
UCECTCGA-AP-A0LH-01exon_skip_434482
36984778369864033698612736986128Frame_Shift_Ins-Gp.R949fs
LGGTCGA-DU-6392-01exon_skip_434482
36984778369864033698624136986242Frame_Shift_Ins-Ap.K987fs
UCECTCGA-AP-A0LH-01exon_skip_434482
36984778369864033698627336986274Frame_Shift_Ins-Gp.K997fs
UCECTCGA-AP-A0LH-01exon_skip_434482
36984778369864033698639536986396Frame_Shift_Ins-Ap.S1038fs
LIHCTCGA-BC-A112-01exon_skip_434483
36995724369959063699575536995756Frame_Shift_Ins-Cp.FP1051fs
LIHCTCGA-BC-A112-01exon_skip_434490
37036481370365893703649737036498Frame_Shift_Ins-Gp.G1960fs
BLCATCGA-MV-A51V-01exon_skip_434482
36984778369864033698485836984858Nonsense_MutationCTp.Q526*
THYMTCGA-ZB-A96Q-01exon_skip_434482
36984778369864033698514636985146Nonsense_MutationGTp.E622X
LUADTCGA-NJ-A4YG-01exon_skip_434482
36984778369864033698525136985251Nonsense_MutationATp.R657*
LGGTCGA-HT-A619-01exon_skip_434482
36984778369864033698570436985704Nonsense_MutationCTp.R808*
LGGTCGA-HT-A619-01exon_skip_434482
36984778369864033698570436985704Nonsense_MutationCTp.R808X
SKCMTCGA-EB-A85I-01exon_skip_434482
36984778369864033698577636985776Nonsense_MutationCTp.R832*
BRCATCGA-EW-A1IZ-01exon_skip_434482
36984778369864033698578236985782Nonsense_MutationCTp.R834*
LUADTCGA-44-3396-01exon_skip_434482
36984778369864033698580336985803Nonsense_MutationCTp.R841*
OVTCGA-13-1496-01exon_skip_434482
36984778369864033698586436985864Nonsense_MutationCAp.S861*
COADTCGA-G4-6302-01exon_skip_434488
37000475370006723700061537000615Nonsense_MutationCTp.R1149X
HNSCTCGA-MZ-A7D7-01exon_skip_434494
37052468370526683705259337052593Nonsense_MutationCGp.Y2396*
STADTCGA-CG-4462-01exon_skip_434494
37052468370526683705262437052624Nonsense_MutationCTp.R2407*
UCECTCGA-AP-A0LM-01exon_skip_434505
37060946370611203706099637060996Nonsense_MutationCTp.R85*
COADTCGA-A6-6781-01exon_skip_434505
37060946370611203706100437061004Nonsense_MutationCTp.R2582X
STADTCGA-FP-A8CX-01exon_skip_434488
37000475370006723700067437000674Splice_SiteTC.
UCECTCGA-D1-A17Q-01exon_skip_434489
37026331370264293702633037026330Splice_SiteGTe30-1
BLCATCGA-G2-A2ES-01exon_skip_434501
37058993370592673705926837059268Splice_SiteGAp.S2562_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
NIPBL_36995851_36995906_37000474_37000672_37000918_37000990_TCGA-FP-A8CX-01Sample: TCGA-FP-A8CX-01
Cancer type: STAD
ESID: exon_skip_434488
Skipped exon start: 37000475
Skipped exon end: 37000672
Mutation start: 37000674
Mutation end: 37000674
Mutation type: Splice_Site
Reference seq: T
Mutation seq: C
AAchange: .
exon_skip_434488_STAD_TCGA-FP-A8CX-01.png
boxplot

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
OC316_OVARY36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
HEC108_ENDOMETRIUM36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
HEC151_ENDOMETRIUM36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
HEC6_ENDOMETRIUM36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
SNGM_ENDOMETRIUM36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
SNU520_STOMACH36984778369864033698508336985084Frame_Shift_DelAA-p.K603fs
SNUC2A_LARGE_INTESTINE36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
SNUC4_LARGE_INTESTINE36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
HCT15_LARGE_INTESTINE36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
AN3CA_ENDOMETRIUM36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
LOVO_LARGE_INTESTINE36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
SW48_LARGE_INTESTINE36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
CW2_LARGE_INTESTINE36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
GP5D_LARGE_INTESTINE36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
OC314_OVARY36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
RKO_LARGE_INTESTINE36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
SNU1040_LARGE_INTESTINE36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
SNUC2B_LARGE_INTESTINE36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
SNUC5_LARGE_INTESTINE36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
GP2D_LARGE_INTESTINE36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
HRT18_LARGE_INTESTINE36984778369864033698508336985083Frame_Shift_DelA-p.K603fs
TE1_OESOPHAGUS36984778369864033698525036985254Frame_Shift_DelCAGAA-p.RT657fs
HEC265_ENDOMETRIUM36984778369864033698560536985605Frame_Shift_DelA-p.K776fs
BICR18_UPPER_AERODIGESTIVE_TRACT36984778369864033698570736985708Frame_Shift_DelTC-p.S809fs
BICR18_UPPER_AERODIGESTIVE_TRACT36984778369864033698571136985714Frame_Shift_DelTTTC-p.VS810fs
HEC108_ENDOMETRIUM36995724369959063699575636995756Frame_Shift_DelC-p.P1053fs
IGROV1_OVARY36984778369864033698478836984789Frame_Shift_Ins-Ap.K503fs
PSN1_PANCREAS36984778369864033698508236985083Frame_Shift_Ins-Ap.K601fs
GRM_SKIN36984778369864033698508236985083Frame_Shift_Ins-Ap.K601fs
DV90_LUNG36984778369864033698520836985209Frame_Shift_Ins-Ap.K643fs
OVTOKO_OVARY36984778369864033698560436985605Frame_Shift_Ins-Ap.K775fs
SF268_CENTRAL_NERVOUS_SYSTEM36984778369864033698534736985349In_Frame_DelAAT-p.N690del
BICR18_UPPER_AERODIGESTIVE_TRACT36984778369864033698592436985926In_Frame_DelCAT-p.S883del
BICR18_UPPER_AERODIGESTIVE_TRACT36984778369864033698599436986002In_Frame_DelATCTGATAA-p.SDK905del
A2780_OVARY37058993370592673705923137059233In_Frame_DelAAC-p.Q2551del
SKGT2_STOMACH36984778369864033698480236984802Missense_MutationAGp.Q507R
HS834T_FIBROBLAST36984778369864033698483436984834Missense_MutationAGp.T518A
2313287_STOMACH36984778369864033698486536984865Missense_MutationCTp.T528M
NCIH2172_LUNG36984778369864033698487736984877Missense_MutationGTp.G532V
TE14_OESOPHAGUS36984778369864033698490236984902Missense_MutationGCp.M540I
LU135_LUNG36984778369864033698494236984942Missense_MutationCGp.Q554E
AGS_STOMACH36984778369864033698496636984966Missense_MutationGAp.D562N
SCC9_UPPER_AERODIGESTIVE_TRACT36984778369864033698497536984975Missense_MutationAGp.K565E
IM95_STOMACH36984778369864033698498136984981Missense_MutationCTp.P567S
BICR18_UPPER_AERODIGESTIVE_TRACT36984778369864033698499136984991Missense_MutationTCp.I570T
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE36984778369864033698499136984991Missense_MutationTCp.I570T
NCIH2141_LUNG36984778369864033698500336985003Missense_MutationAGp.N574S
ESS1_ENDOMETRIUM36984778369864033698503236985032Missense_MutationGAp.D584N
BICR18_UPPER_AERODIGESTIVE_TRACT36984778369864033698505736985057Missense_MutationCTp.T592I
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE36984778369864033698505736985057Missense_MutationCTp.T592I
WSUNHL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE36984778369864033698507836985078Missense_MutationCTp.T599I
DMS114_LUNG36984778369864033698513036985130Missense_MutationTGp.S616R
SUM229PE_BREAST36984778369864033698521736985217Missense_MutationGCp.E645D
HPAC_PANCREAS36984778369864033698548636985486Missense_MutationCTp.T735I
SNU16_STOMACH36984778369864033698548636985486Missense_MutationCTp.T735I
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE36984778369864033698550136985501Missense_MutationGAp.G740D
HCC1359_LUNG36984778369864033698570536985705Missense_MutationGAp.R808Q
SKNFI_AUTONOMIC_GANGLIA36984778369864033698588536985885Missense_MutationGAp.R868Q
NCIH69_LUNG36984778369864033698589236985892Missense_MutationCAp.H870Q
SHP77_LUNG36984778369864033698593236985932Missense_MutationGTp.G884W
CORL88_LUNG36984778369864033698596336985963Missense_MutationGAp.R894H
UACC893_BREAST36984778369864033698605736986057Missense_MutationGCp.K925N
SH10TC_STOMACH36984778369864033698606136986061Missense_MutationAGp.K927E
ISHIKAWAHERAKLIO02ER_ENDOMETRIUM36984778369864033698606436986064Missense_MutationGCp.V928L
JHUEM7_ENDOMETRIUM36984778369864033698614736986147Missense_MutationTGp.N955K
JHUEM7_ENDOMETRIUM36984778369864033698619436986194Missense_MutationACp.Q971P
SNU81_LARGE_INTESTINE36984778369864033698632936986329Missense_MutationTGp.L1016R
LNCAPCLONEFGC_PROSTATE36984778369864033698634736986347Missense_MutationAGp.D1022G
LOXIMVI_SKIN36984778369864033698638236986382Missense_MutationAGp.K1034E
HCC2998_LARGE_INTESTINE36995724369959063699572736995727Missense_MutationGAp.S1042N
HS695T_SKIN36995724369959063699573736995737Missense_MutationATp.Q1045H
SW403_LARGE_INTESTINE36995724369959063699579036995790Missense_MutationTCp.M1063T
NCIH345_LUNG36995724369959063699583436995834Missense_MutationATp.T1078S
NCIH2110_LUNG37000475370006723700050437000504Missense_MutationGAp.D1112N
HCC2450_LUNG37000475370006723700053837000538Missense_MutationGAp.R1123K
SNU216_STOMACH37000475370006723700057137000571Missense_MutationCTp.S1134F
SCS214_SOFT_TISSUE37000475370006723700060437000604Missense_MutationGAp.R1145H
BEN_LUNG37000475370006723700062137000621Missense_MutationCTp.P1151S
MJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37000475370006723700063637000636Missense_MutationAGp.M1156V
HCC1195_LUNG37000475370006723700063937000639Missense_MutationGCp.E1157Q
BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE37000475370006723700064237000642Missense_MutationGCp.D1158H
HEC6_ENDOMETRIUM37026331370264293702635937026359Missense_MutationTCp.L1913P
EPLC272H_LUNG37026331370264293702638137026381Missense_MutationCGp.H1920Q
KYSE180_OESOPHAGUS37052468370526683705253837052538Missense_MutationCTp.P2378L
DMS454_LUNG37052468370526683705256137052561Missense_MutationGCp.E2386Q
PANC0403_PANCREAS37052468370526683705257137052571Missense_MutationGTp.S2389I
AN3CA_ENDOMETRIUM37052468370526683705263937052639Missense_MutationTCp.S2412P
BICR18_UPPER_AERODIGESTIVE_TRACT37057288370574343705729637057296Missense_MutationCAp.D2424E
S117_SOFT_TISSUE37057288370574343705729637057296Missense_MutationCAp.D2424E
HEPG2_LIVER37057288370574343705729737057297Missense_MutationGAp.V2425M
C3A_LIVER37057288370574343705729737057297Missense_MutationGAp.V2425M
HOP62_LUNG37057288370574343705735737057357Missense_MutationGCp.E2445Q
SNU1040_LARGE_INTESTINE37057288370574343705736137057361Missense_MutationCTp.P2446L
LS411N_LARGE_INTESTINE37058993370592673705904237059042Missense_MutationAGp.E2487G
SNU175_LARGE_INTESTINE37058993370592673705919237059192Missense_MutationCTp.A2537V
HS939T_SKIN37060946370611203706100537061005Missense_MutationGAp.R2582Q
KM12_LARGE_INTESTINE37060946370611203706101337061013Missense_MutationGAp.G2585R
HEC6_ENDOMETRIUM36984778369864033698570436985704Nonsense_MutationCTp.R808*
JHUEM1_ENDOMETRIUM36984778369864033698580336985803Nonsense_MutationCTp.R841*
CW2_LARGE_INTESTINE36984778369864033698588436985884Nonsense_MutationCTp.R868*
PC9_LUNG36984778369864033698621736986217Nonsense_MutationATp.K979*
A549_LUNG37052468370526683705260637052606Nonsense_MutationGTp.G2401*
MCF7_BREAST37058993370592673705915737059157Nonsense_MutationTAp.C2525*
SNU1040_LARGE_INTESTINE37058993370592673705916437059164Nonsense_MutationGTp.E2528*

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

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value

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


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


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RelatedDrugs for NIPBL

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
GeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for NIPBL

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
NIPBLC0270972Cornelia De Lange Syndrome9CTD_human;ORPHANET;UNIPROT
NIPBLC0005941Bone Diseases, Developmental1CTD_human
NIPBLC0018798Congenital Heart Defects1CTD_human
NIPBLC0260662Hearing problem1CTD_human
NIPBLC0376634Craniofacial Abnormalities1CTD_human