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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 NSD1

check button Gene summary
Gene informationGene symbol

NSD1

Gene ID

64324

Gene namenuclear receptor binding SET domain protein 1
SynonymsARA267|KMT3B|SOTOS|SOTOS1|STO
Cytomap

5q35.3

Type of geneprotein-coding
Descriptionhistone-lysine N-methyltransferase, H3 lysine-36 and H4 lysine-20 specificH3-K36-HMTaseH4-K20-HMTaseNR-binding SET domain-containing proteinandrogen receptor coactivator 267 kDa proteinandrogen receptor-associated coregulator 267androgen receptor-as
Modification date20180519
UniProtAcc

Q96L73

ContextPubMed: NSD1 [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
NSD1

GO:0045893

positive regulation of transcription, DNA-templated

11509567


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Exon skipping events across known transcript of Ensembl for NSD1 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 NSD1

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 NSD1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4400435176562087:176562201:176562941:176563031:176618884:176619020176562941:176563031ENSG00000165671.14ENST00000510954.1,ENST00000347982.4,ENST00000508896.1,ENST00000354179.4
exon_skip_4400495176562941:176563031:176618884:176619020:176631120:176631237176618884:176619020ENSG00000165671.14ENST00000510954.1,ENST00000347982.4,ENST00000508896.1,ENST00000439151.2,ENST00000354179.4
exon_skip_4400525176618884:176619020:176631120:176631293:176636636:176636673176631120:176631293ENSG00000165671.14ENST00000347982.4,ENST00000508896.1,ENST00000439151.2,ENST00000354179.4
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENSG00000165671.14ENST00000347982.4,ENST00000439151.2,ENST00000354179.4
exon_skip_4400545176639111:176639196:176656765:176656887:176662821:176662946176656765:176656887ENSG00000165671.14ENST00000375350.3
exon_skip_4400555176662821:176662946:176665237:176665508:176666756:176666866176665237:176665508ENSG00000165671.14ENST00000347982.4,ENST00000361032.4,ENST00000439151.2,ENST00000354179.4
exon_skip_4400565176666756:176666866:176671195:176671271:176673678:176673797176671195:176671271ENSG00000165671.14ENST00000347982.4,ENST00000361032.4,ENST00000439151.2,ENST00000354179.4
exon_skip_4400585176673678:176673797:176675181:176675325:176678730:176678854176675181:176675325ENSG00000165671.14ENST00000347982.4,ENST00000361032.4,ENST00000439151.2,ENST00000354179.4
exon_skip_4400595176683951:176684152:176686989:176687169:176694562:176694719176686989:176687169ENSG00000165671.14ENST00000347982.4,ENST00000361032.4,ENST00000439151.2,ENST00000354179.4
exon_skip_4400615176696602:176696808:176700672:176700785:176707565:176707584176700672:176700785ENSG00000165671.14ENST00000347982.4,ENST00000503056.1,ENST00000361032.4,ENST00000439151.2,ENST00000354179.4
exon_skip_4400635176700672:176700785:176707565:176707835:176709465:176709582176707565:176707835ENSG00000165671.14ENST00000347982.4,ENST00000361032.4,ENST00000439151.2,ENST00000354179.4
exon_skip_4400645176707565:176707835:176709465:176709582:176710787:176710929176709465:176709582ENSG00000165671.14ENST00000347982.4,ENST00000361032.4,ENST00000439151.2,ENST00000354179.4
exon_skip_4400655176710787:176710929:176715819:176715926:176718954:176719128176715819:176715926ENSG00000165671.14ENST00000347982.4,ENST00000361032.4,ENST00000439151.2,ENST00000354179.4

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

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Exon skipping events with PSIs in GTEx for NSD1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_4400435176562087:176562201:176562941:176563031:176618884:176619020176562941:176563031ENSG00000165671.14ENST00000510954.1,ENST00000354179.4,ENST00000508896.1,ENST00000347982.4
exon_skip_4400495176562941:176563031:176618884:176619020:176631120:176631237176618884:176619020ENSG00000165671.14ENST00000510954.1,ENST00000354179.4,ENST00000508896.1,ENST00000439151.2,ENST00000347982.4
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENSG00000165671.14ENST00000354179.4,ENST00000439151.2,ENST00000347982.4
exon_skip_4400545176639111:176639196:176656765:176656887:176662821:176662946176656765:176656887ENSG00000165671.14ENST00000375350.3
exon_skip_4400555176662821:176662946:176665237:176665508:176666756:176666866176665237:176665508ENSG00000165671.14ENST00000354179.4,ENST00000439151.2,ENST00000347982.4,ENST00000361032.4
exon_skip_4400565176666756:176666866:176671195:176671271:176673678:176673797176671195:176671271ENSG00000165671.14ENST00000354179.4,ENST00000439151.2,ENST00000347982.4,ENST00000361032.4
exon_skip_4400585176673678:176673797:176675181:176675325:176678730:176678854176675181:176675325ENSG00000165671.14ENST00000354179.4,ENST00000439151.2,ENST00000347982.4,ENST00000361032.4
exon_skip_4400595176683951:176684152:176686989:176687169:176694562:176694719176686989:176687169ENSG00000165671.14ENST00000354179.4,ENST00000439151.2,ENST00000347982.4,ENST00000361032.4
exon_skip_4400615176696602:176696808:176700672:176700785:176707565:176707584176700672:176700785ENSG00000165671.14ENST00000354179.4,ENST00000439151.2,ENST00000347982.4,ENST00000361032.4,ENST00000503056.1
exon_skip_4400635176700672:176700785:176707565:176707835:176709465:176709582176707565:176707835ENSG00000165671.14ENST00000354179.4,ENST00000439151.2,ENST00000347982.4,ENST00000361032.4
exon_skip_4400645176707565:176707835:176709465:176709582:176710787:176710929176709465:176709582ENSG00000165671.14ENST00000354179.4,ENST00000439151.2,ENST00000347982.4,ENST00000361032.4
exon_skip_4400655176710787:176710929:176715819:176715926:176718954:176719128176715819:176715926ENSG00000165671.14ENST00000354179.4,ENST00000439151.2,ENST00000347982.4,ENST00000361032.4

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 NSD1

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
ENST00000439151176618884176619020Frame-shift
ENST00000439151176631120176631293Frame-shift
ENST00000439151176636636176639196Frame-shift
ENST00000439151176665237176665508Frame-shift
ENST00000439151176671195176671271Frame-shift
ENST00000439151176700672176700785Frame-shift
ENST00000439151176715819176715926Frame-shift
ENST00000439151176675181176675325In-frame
ENST00000439151176686989176687169In-frame
ENST00000439151176707565176707835In-frame
ENST00000439151176709465176709582In-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
ENST00000439151176618884176619020Frame-shift
ENST00000439151176636636176639196Frame-shift
ENST00000439151176665237176665508Frame-shift
ENST00000439151176671195176671271Frame-shift
ENST00000439151176700672176700785Frame-shift
ENST00000439151176715819176715926Frame-shift
ENST00000439151176675181176675325In-frame
ENST00000439151176686989176687169In-frame
ENST00000439151176707565176707835In-frame
ENST00000439151176709465176709582In-frame

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Infer the effects of exon skipping event on protein functional features for NSD1

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
ENST000004391511290926961766751811766753254543468614991547
ENST000004391511290926961766869891766871695012519116551715
ENST000004391511290926961767075651767078355668593718741964
ENST000004391511290926961767094651767095825938605419642003

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
ENST000004391511290926961766751811766753254543468614991547
ENST000004391511290926961766869891766871695012519116551715
ENST000004391511290926961767075651767078355668593718741964
ENST000004391511290926961767094651767095825938605419642003

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
Q96L731499154712696ChainID=PRO_0000186070;Note=Histone-lysine N-methyltransferase%2C H3 lysine-36 and H4 lysine-20 specific
Q96L731499154715101510Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O88491
Q96L731499154715431589Zinc fingerNote=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146
Q96L731655171512696ChainID=PRO_0000186070;Note=Histone-lysine N-methyltransferase%2C H3 lysine-36 and H4 lysine-20 specific
Q96L731655171516741674Natural variantID=VAR_015782;Note=In SOTOS1. C->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12464997;Dbxref=PMID:12464997
Q96L731655171516871687Natural variantID=VAR_015783;Note=In SOTOS1. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12807965;Dbxref=PMID:12807965
Q96L731655171517071751Zinc fingerNote=PHD-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146
Q96L731874196419011903Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731874196419441948Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731874196419501960Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731874196412696ChainID=PRO_0000186070;Note=Histone-lysine N-methyltransferase%2C H3 lysine-36 and H4 lysine-20 specific
Q96L731874196418901940DomainNote=AWS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00562
Q96L731874196419422059DomainNote=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190
Q96L731874196418891891HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731874196419121915HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731874196419281930HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731874196419351938HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731874196419141914MutagenesisNote=Reduced enzyme activity. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21196496;Dbxref=PMID:21196496
Q96L731874196419521952MutagenesisNote=Nearly abolished enzyme activity. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21196496;Dbxref=PMID:21196496
Q96L731874196419251925Natural variantID=VAR_015785;Note=In SOTOS1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12464997;Dbxref=PMID:12464997
Q96L731874196419551955Natural variantID=VAR_015786;Note=In SOTOS1. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12807965;Dbxref=PMID:12807965
Q96L731874196419521954RegionNote=S-adenosyl-L-methionine binding
Q96L731874196419591960Sequence conflictNote=KT->QE;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96L731874196419631963Sequence conflictNote=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96L731874196419221924TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731964200319671970Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731964200319731976Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731964200319982002Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731964200312696ChainID=PRO_0000186070;Note=Histone-lysine N-methyltransferase%2C H3 lysine-36 and H4 lysine-20 specific
Q96L731964200319422059DomainNote=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190
Q96L731964200319781990HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731964200319841984Natural variantID=VAR_015787;Note=In SOTOS1%3B loss of enzyme activity. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12807965,ECO:0000269|PubMed:21196496;Dbxref=dbSNP:rs587784169,PMID:12807965,PMID:21196496
Q96L731964200319971997Natural variantID=VAR_015788;Note=In SOTOS1. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12807965;Dbxref=dbSNP:rs797045825,PMID:12807965
Q96L731964200319941997RegionNote=S-adenosyl-L-methionine binding
Q96L731964200319821982Sequence conflictNote=R->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96L731964200319861991Sequence conflictNote=RYAQEH->KHAHEN;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96L731964200319951995Sequence conflictNote=N->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96L731964200320012001Sequence conflictNote=L->I;Ontology_term=ECO:0000305;evidence=ECO:0000305


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
Q96L731499154712696ChainID=PRO_0000186070;Note=Histone-lysine N-methyltransferase%2C H3 lysine-36 and H4 lysine-20 specific
Q96L731499154715101510Modified residueNote=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:O88491
Q96L731499154715431589Zinc fingerNote=PHD-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146
Q96L731655171512696ChainID=PRO_0000186070;Note=Histone-lysine N-methyltransferase%2C H3 lysine-36 and H4 lysine-20 specific
Q96L731655171516741674Natural variantID=VAR_015782;Note=In SOTOS1. C->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12464997;Dbxref=PMID:12464997
Q96L731655171516871687Natural variantID=VAR_015783;Note=In SOTOS1. I->N;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12807965;Dbxref=PMID:12807965
Q96L731655171517071751Zinc fingerNote=PHD-type 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00146
Q96L731874196419011903Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731874196419441948Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731874196419501960Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731874196412696ChainID=PRO_0000186070;Note=Histone-lysine N-methyltransferase%2C H3 lysine-36 and H4 lysine-20 specific
Q96L731874196418901940DomainNote=AWS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00562
Q96L731874196419422059DomainNote=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190
Q96L731874196418891891HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731874196419121915HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731874196419281930HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731874196419351938HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731874196419141914MutagenesisNote=Reduced enzyme activity. R->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21196496;Dbxref=PMID:21196496
Q96L731874196419521952MutagenesisNote=Nearly abolished enzyme activity. R->W;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21196496;Dbxref=PMID:21196496
Q96L731874196419251925Natural variantID=VAR_015785;Note=In SOTOS1. C->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12464997;Dbxref=PMID:12464997
Q96L731874196419551955Natural variantID=VAR_015786;Note=In SOTOS1. G->D;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12807965;Dbxref=PMID:12807965
Q96L731874196419521954RegionNote=S-adenosyl-L-methionine binding
Q96L731874196419591960Sequence conflictNote=KT->QE;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96L731874196419631963Sequence conflictNote=K->R;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96L731874196419221924TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731964200319671970Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731964200319731976Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731964200319982002Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731964200312696ChainID=PRO_0000186070;Note=Histone-lysine N-methyltransferase%2C H3 lysine-36 and H4 lysine-20 specific
Q96L731964200319422059DomainNote=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190
Q96L731964200319781990HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3OOI
Q96L731964200319841984Natural variantID=VAR_015787;Note=In SOTOS1%3B loss of enzyme activity. R->Q;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:12807965,ECO:0000269|PubMed:21196496;Dbxref=dbSNP:rs587784169,PMID:12807965,PMID:21196496
Q96L731964200319971997Natural variantID=VAR_015788;Note=In SOTOS1. Y->C;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12807965;Dbxref=dbSNP:rs797045825,PMID:12807965
Q96L731964200319941997RegionNote=S-adenosyl-L-methionine binding
Q96L731964200319821982Sequence conflictNote=R->M;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96L731964200319861991Sequence conflictNote=RYAQEH->KHAHEN;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96L731964200319951995Sequence conflictNote=N->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q96L731964200320012001Sequence conflictNote=L->I;Ontology_term=ECO:0000305;evidence=ECO:0000305


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SNVs in the skipped exons for NSD1

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.
NSD1_ESCA_exon_skip_440064_psi_boxplot.png
boxplot
NSD1_HNSC_exon_skip_440064_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
LIHCTCGA-DD-A39Y-01exon_skip_440053
176636637176639196176636646176636646Frame_Shift_DelA-p.K416fs
LIHCTCGA-DD-A1EG-01exon_skip_440053
176636637176639196176636686176636686Frame_Shift_DelA-p.E429fs
KIRCTCGA-B0-5084-01exon_skip_440053
176636637176639196176637152176637152Frame_Shift_DelT-p.T584fs
HNSCTCGA-CN-4730-01exon_skip_440053
176636637176639196176637167176637168Frame_Shift_DelTT-p.S589fs
HNSCTCGA-CN-4730-01exon_skip_440053
176636637176639196176637167176637168Frame_Shift_DelTT-p.SL589fs
LIHCTCGA-G3-A3CJ-01exon_skip_440053
176636637176639196176637191176637191Frame_Shift_DelT-p.A597fs
LIHCTCGA-DD-A1EG-01exon_skip_440053
176636637176639196176637289176637289Frame_Shift_DelA-p.E630fs
HNSCTCGA-D6-A74Q-01exon_skip_440053
176636637176639196176637659176637659Frame_Shift_DelA-p.P753fs
KIRPTCGA-BQ-7060-01exon_skip_440053
176636637176639196176637880176637880Frame_Shift_DelT-p.I827fs
CESCTCGA-FU-A2QG-01exon_skip_440053
176636637176639196176637930176637930Frame_Shift_DelG-p.E844fs
LIHCTCGA-DD-A1EG-01exon_skip_440053
176636637176639196176637933176637933Frame_Shift_DelA-p.K845fs
HNSCTCGA-UF-A71D-01exon_skip_440053
176636637176639196176638165176638165Frame_Shift_DelC-p.T922fs
LIHCTCGA-DD-A1EG-01exon_skip_440053
176636637176639196176638499176638499Frame_Shift_DelT-p.A1033fs
LIHCTCGA-DD-A1EG-01exon_skip_440053
176636637176639196176638557176638557Frame_Shift_DelA-p.K1053fs
HNSCTCGA-CV-7253-01exon_skip_440053
176636637176639196176638656176638662Frame_Shift_DelAGTAAAG-p.S1086fs
HNSCTCGA-CV-7253-01exon_skip_440053
176636637176639196176638656176638662Frame_Shift_DelAGTAAAG-p.SKE1086fs
HNSCTCGA-F7-7848-01exon_skip_440053
176636637176639196176638682176638682Frame_Shift_DelG-p.M1094fs
HNSCTCGA-BB-A5HZ-01exon_skip_440053
176636637176639196176638683176638693Frame_Shift_DelGGCCACTTAAC-p.GHLT1095fs
UCECTCGA-AP-A0LT-01exon_skip_440053
176636637176639196176638869176638869Frame_Shift_DelA-p.K1157fs
HNSCTCGA-BA-A6DL-01exon_skip_440053
176636637176639196176638999176639006Frame_Shift_DelGGGATGAG-p.RDE1200fs
UCECTCGA-D1-A17U-01exon_skip_440058
176675182176675325176675214176675214Frame_Shift_DelC-p.S1510fs
HNSCTCGA-CR-7402-01exon_skip_440058
176675182176675325176675254176675254Frame_Shift_DelG-p.G1524fs
STADTCGA-CG-5733-01exon_skip_440058
176675182176675325176675269176675269Frame_Shift_DelA-p.S1528fs
UCECTCGA-AP-A05N-01exon_skip_440058
176675182176675325176675269176675269Frame_Shift_DelA-p.K1529fs
UCECTCGA-BG-A0LX-01exon_skip_440058
176675182176675325176675269176675269Frame_Shift_DelA-p.K1529fs
UCECTCGA-BS-A0TJ-01exon_skip_440058
176675182176675325176675269176675269Frame_Shift_DelA-p.K1529fs
UCECTCGA-D1-A174-01exon_skip_440058
176675182176675325176675269176675269Frame_Shift_DelA-p.K1529fs
UCECTCGA-D1-A17B-01exon_skip_440058
176675182176675325176675269176675269Frame_Shift_DelA-p.K1529fs
LIHCTCGA-G3-A3CJ-01exon_skip_440059
176686990176687169176687040176687040Frame_Shift_DelT-p.F1673fs
STADTCGA-HU-8602-01exon_skip_440061
176700673176700785176700715176700715Frame_Shift_DelA-p.Q1851fs
HNSCTCGA-CV-5441-01exon_skip_440061
176700673176700785176700778176700779Frame_Shift_DelAT-p.H1872fs
HNSCTCGA-QK-A8Z8-01exon_skip_440061
176700673176700785176700778176700779Frame_Shift_DelAT-p.H1872fs
HNSCTCGA-KU-A66S-01exon_skip_440063
176707566176707835176707798176707798Frame_Shift_DelG-p.R1952fs
LIHCTCGA-DD-A1EG-01exon_skip_440063
176707566176707835176707817176707817Frame_Shift_DelA-p.T1958fs
UCECTCGA-D1-A174-01exon_skip_440064
176709466176709582176709489176709489Frame_Shift_DelG-p.V1972fs
LIHCTCGA-BC-A112-01exon_skip_440053
176636637176639196176637107176637108Frame_Shift_Ins-Tp.LF569fs
BLCATCGA-XF-AAMJ-01exon_skip_440053
176636637176639196176637121176637122Frame_Shift_Ins-Ap.GK574fs
LIHCTCGA-BC-A112-01exon_skip_440053
176636637176639196176637121176637122Frame_Shift_Ins-Ap.E574fs
LIHCTCGA-BC-A112-01exon_skip_440053
176636637176639196176637437176637438Frame_Shift_Ins-Ap.QK679fs
BLCATCGA-XF-A9T2-01exon_skip_440053
176636637176639196176637515176637516Frame_Shift_Ins-Ap.N706fs
HNSCTCGA-CV-A461-01exon_skip_440053
176636637176639196176638343176638344Frame_Shift_Ins-Gp.RG981fs
HNSCTCGA-CR-7398-01exon_skip_440058
176675182176675325176675268176675269Frame_Shift_Ins-Ap.S1528fs
HNSCTCGA-CR-7398-01exon_skip_440058
176675182176675325176675268176675269Frame_Shift_Ins-Ap.SK1528fs
HNSCTCGA-CV-A6JU-01exon_skip_440063
176707566176707835176707765176707766Frame_Shift_Ins-Tp.S1941fs
HNSCTCGA-CN-A641-01exon_skip_440063
176707566176707835176707779176707780Frame_Shift_Ins-Tp.F1946fs
UCECTCGA-D1-A174-01exon_skip_440053
176636637176639196176636892176636892Nonsense_MutationCTp.R498*
HNSCTCGA-CV-A45Z-01exon_skip_440053
176636637176639196176637201176637201Nonsense_MutationATp.K601*
HNSCTCGA-CQ-7072-01exon_skip_440053
176636637176639196176637435176637435Nonsense_MutationCTp.Q679*
HNSCTCGA-BA-6869-01exon_skip_440053
176636637176639196176637520176637520Nonsense_MutationCGp.S707*
HNSCTCGA-CN-5360-01exon_skip_440053
176636637176639196176637631176637631Nonsense_MutationCGp.S744*
HNSCTCGA-BA-5555-01exon_skip_440053
176636637176639196176637762176637762Nonsense_MutationCTp.R788*
HNSCTCGA-QK-AA3J-01exon_skip_440053
176636637176639196176637762176637762Nonsense_MutationCTp.R788*
HNSCTCGA-CV-7440-01exon_skip_440053
176636637176639196176637776176637776Nonsense_MutationCAp.C792*
LUSCTCGA-34-5231-01exon_skip_440053
176636637176639196176638020176638020Nonsense_MutationGTp.E874*
HNSCTCGA-CN-4727-01exon_skip_440053
176636637176639196176638275176638275Nonsense_MutationGTp.G959*
HNSCTCGA-BB-7870-01exon_skip_440053
176636637176639196176638368176638368Nonsense_MutationGTp.E990*
UCECTCGA-B5-A0JZ-01exon_skip_440053
176636637176639196176638605176638605Nonsense_MutationCTp.Q1069*
HNSCTCGA-BA-A6DL-01exon_skip_440053
176636637176639196176638614176638614Nonsense_MutationCTp.R1072*
HNSCTCGA-CN-A63W-01exon_skip_440053
176636637176639196176638879176638879Nonsense_MutationGAp.W1160*
UCECTCGA-AP-A056-01exon_skip_440053
176636637176639196176638935176638935Nonsense_MutationGTp.E1179*
HNSCTCGA-CV-A468-01exon_skip_440055
176665238176665508176665274176665274Nonsense_MutationCTp.R1320*
HNSCTCGA-CV-7250-01exon_skip_440055
176665238176665508176665392176665392Nonsense_MutationCAp.S1359*
HNSCTCGA-CN-A497-01exon_skip_440055
176665238176665508176665487176665487Nonsense_MutationGTp.E1391*
HNSCTCGA-CN-A63U-01exon_skip_440058
176675182176675325176675185176675185Nonsense_MutationGTp.E1501*
HNSCTCGA-P3-A6T6-01exon_skip_440058
176675182176675325176675230176675230Nonsense_MutationGTp.E1516*
HNSCTCGA-CV-7245-01exon_skip_440058
176675182176675325176675284176675284Nonsense_MutationGTp.E1534*
CESCTCGA-EA-A1QT-01exon_skip_440059
176686990176687169176687059176687059Nonsense_MutationCGp.S1679*
CESCTCGA-EK-A2RC-01exon_skip_440059
176686990176687169176687059176687059Nonsense_MutationCAp.S1679*
ACCTCGA-OR-A5LB-01exon_skip_440059
176686990176687169176687121176687121Nonsense_MutationCTp.R1700*
ACCTCGA-OR-A5LB-01exon_skip_440059
176686990176687169176687121176687121Nonsense_MutationCTp.R1700X
HNSCTCGA-CR-7385-01exon_skip_440059
176686990176687169176687121176687121Nonsense_MutationCTp.R1700*
HNSCTCGA-UF-A7JF-01exon_skip_440061
176700673176700785176700720176700720Nonsense_MutationGTp.E1853*
HNSCTCGA-CN-4727-01exon_skip_440063
176707566176707835176707725176707725Nonsense_MutationGTp.G1928*
HNSCTCGA-CR-7364-01exon_skip_440064
176709466176709582176709508176709508Nonsense_MutationGTp.E1979*
COADTCGA-G4-6322-01exon_skip_440064
176709466176709582176709523176709523Nonsense_MutationCTp.R1984X
ESCATCGA-IC-A6RF-01exon_skip_440064
176709466176709582176709523176709523Nonsense_MutationCTp.R1984*
ESCATCGA-IC-A6RF-01exon_skip_440064
176709466176709582176709523176709523Nonsense_MutationCTp.R1984X
HNSCTCGA-CV-6956-01exon_skip_440064
176709466176709582176709523176709523Nonsense_MutationCTp.R1984*
HNSCTCGA-CR-7402-01exon_skip_440064
176709466176709582176709538176709538Nonsense_MutationCTp.Q1989*
KIRCTCGA-CJ-6031-01exon_skip_440052
176631121176631293176631295176631295Splice_SiteTC.
ESCATCGA-JY-A93F-01exon_skip_440064
176709466176709582176709465176709465Splice_SiteGA.
ESCATCGA-JY-A93F-01exon_skip_440064
176709466176709582176709465176709465Splice_SiteGAe18-1
KIRPTCGA-MH-A55W-01exon_skip_440064
176709466176709582176709581176709584Splice_SiteAAGT-p.K2003_splice

check button - Depth of coverage in the three exons composing exon skipping event
Depth of coverage in three exonsMutation description
NSD1_176707565_176707835_176709465_176709582_176710787_176710929_TCGA-JY-A93F-01Sample: TCGA-JY-A93F-01
Cancer type: ESCA
ESID: exon_skip_440064
Skipped exon start: 176709466
Skipped exon end: 176709582
Mutation start: 176709465
Mutation end: 176709465
Mutation type: Splice_Site
Reference seq: G
Mutation seq: A
AAchange: .
NSD1_176707565_176707835_176709465_176709582_176710787_176710929_TCGA-JY-A93F-01Sample: TCGA-JY-A93F-01
Cancer type: ESCA
ESID: exon_skip_440064
Skipped exon start: 176709466
Skipped exon end: 176709582
Mutation start: 176709465
Mutation end: 176709465
Mutation type: Splice_Site
Reference seq: G
Mutation seq: A
AAchange: e18-1
exon_skip_440064_ESCA_TCGA-JY-A93F-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
SCC4_UPPER_AERODIGESTIVE_TRACT176636637176639196176637654176637654Frame_Shift_DelT-p.S752fs
CAL51_BREAST176636637176639196176638344176638344Frame_Shift_DelG-p.G983fs
AN3CA_ENDOMETRIUM176636637176639196176638443176638444Frame_Shift_DelTG-p.C1015fs
HN_UPPER_AERODIGESTIVE_TRACT176636637176639196176638555176638555Frame_Shift_DelG-p.R1052fs
SNU520_STOMACH176675182176675325176675269176675269Frame_Shift_DelA-p.K1530fs
IM95_STOMACH176675182176675325176675269176675269Frame_Shift_DelA-p.K1530fs
CAL51_BREAST176675182176675325176675269176675269Frame_Shift_DelA-p.K1530fs
CCRFCEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE176675182176675325176675269176675269Frame_Shift_DelA-p.K1530fs
DG75_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE176675182176675325176675269176675269Frame_Shift_DelA-p.K1530fs
RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE176665238176665508176665312176665313Frame_Shift_Ins-Ap.N1333fs
SKN3_UPPER_AERODIGESTIVE_TRACT176700673176700785176700778176700779Frame_Shift_Ins-Tp.I1873fs
TO175T_FIBROBLAST176562942176563031176562952176562952Missense_MutationATp.D283V
BICR18_UPPER_AERODIGESTIVE_TRACT176562942176563031176563005176563005Missense_MutationTCp.S301P
OCIAML5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE176631121176631293176631223176631223Missense_MutationGCp.R389T
BICR18_UPPER_AERODIGESTIVE_TRACT176631121176631293176631256176631256Missense_MutationGAp.R400K
DOV13_OVARY176636637176639196176636655176636655Missense_MutationACp.S419R
HS294T_SKIN176636637176639196176636655176636655Missense_MutationACp.S419R
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE176636637176639196176636944176636944Missense_MutationATp.H515L
MDAMB330_BREAST176636637176639196176636973176636973Missense_MutationCTp.R525W
HEC59_ENDOMETRIUM176636637176639196176636989176636989Missense_MutationCTp.P530L
DMS454_LUNG176636637176639196176637032176637032Missense_MutationTAp.D544E
CORL88_LUNG176636637176639196176637157176637157Missense_MutationAGp.N586S
NCIH1975_LUNG176636637176639196176637295176637295Missense_MutationGAp.R632Q
NCIH650_LUNG176636637176639196176637354176637354Missense_MutationAGp.I652V
SCC4_UPPER_AERODIGESTIVE_TRACT176636637176639196176637371176637371Missense_MutationGTp.E657D
MUTZ5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE176636637176639196176637415176637415Missense_MutationCTp.T672I
LU65_LUNG176636637176639196176637421176637421Missense_MutationAGp.N674S
NCIH630_LARGE_INTESTINE176636637176639196176637730176637730Missense_MutationTCp.L777P
SNU119_OVARY176636637176639196176637800176637800Missense_MutationGTp.M800I
CCK81_LARGE_INTESTINE176636637176639196176637828176637828Missense_MutationTCp.C810R
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE176636637176639196176637937176637937Missense_MutationCGp.T846S
BT20_BREAST176636637176639196176637954176637954Missense_MutationATp.I852L
ABC1_LUNG176636637176639196176638221176638221Missense_MutationCTp.R941C
JHU029_UPPER_AERODIGESTIVE_TRACT176636637176639196176638246176638246Missense_MutationCTp.P949L
KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE176636637176639196176638327176638327Missense_MutationCTp.A976V
SN12C_KIDNEY176636637176639196176638356176638356Missense_MutationGCp.A986P
NCIH596_LUNG176636637176639196176638410176638410Missense_MutationGTp.D1004Y
NCIH841_LUNG176636637176639196176638416176638416Missense_MutationCTp.P1006S
SNUC4_LARGE_INTESTINE176636637176639196176638458176638458Missense_MutationAGp.N1020D
CHLA258_BONE176636637176639196176638492176638492Missense_MutationGAp.R1031Q
COLO680N_OESOPHAGUS176636637176639196176638512176638512Missense_MutationAGp.M1038V
RCCMF_KIDNEY176636637176639196176638552176638552Missense_MutationATp.E1051V
RERFLCAD1_LUNG176636637176639196176638596176638596Missense_MutationGTp.A1066S
HS822T_FIBROBLAST176636637176639196176638597176638597Missense_MutationCTp.A1066V
SNU81_LARGE_INTESTINE176636637176639196176638636176638636Missense_MutationGAp.R1079K
SW684_SOFT_TISSUE176636637176639196176638653176638653Missense_MutationCTp.P1085S
RKO_LARGE_INTESTINE176636637176639196176638681176638681Missense_MutationTCp.M1094T
HTK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE176636637176639196176638715176638715Missense_MutationTGp.F1105L
NCIH650_LUNG176636637176639196176638731176638731Missense_MutationGTp.D1111Y
HCC2998_LARGE_INTESTINE176636637176639196176638763176638763Missense_MutationACp.K1121N
U87MG_CENTRAL_NERVOUS_SYSTEM176636637176639196176638780176638780Missense_MutationTGp.L1127R
SNU869_BILIARY_TRACT176636637176639196176638846176638846Missense_MutationAGp.N1149S
TCCPAN2_PANCREAS176636637176639196176638846176638846Missense_MutationAGp.N1149S
RF48_STOMACH176636637176639196176638909176638909Missense_MutationCTp.P1170L
SNU1040_LARGE_INTESTINE176636637176639196176638998176638998Missense_MutationCTp.R1200W
MZ7MEL_SKIN176636637176639196176639056176639056Missense_MutationCTp.T1219I
HLFA_FIBROBLAST176636637176639196176639097176639097Missense_MutationCTp.R1233W
CHAGOK1_LUNG176636637176639196176639178176639178Missense_MutationGTp.A1260S
OVSAHO_OVARY176665238176665508176665503176665503Missense_MutationCTp.T1396M
SNU1079_BILIARY_TRACT176665238176665508176665503176665503Missense_MutationCTp.T1396M
SISO_CERVIX176665238176665508176665503176665503Missense_MutationCTp.T1396M
SR786_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE176675182176675325176675236176675236Missense_MutationGTp.G1518C
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE176675182176675325176675290176675290Missense_MutationGAp.G1536S
SNU81_LARGE_INTESTINE176686990176687169176687037176687037Missense_MutationGTp.D1672Y
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE176700673176700785176700691176700691Missense_MutationCTp.A1843V
KHYG_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE176700673176700785176700738176700738Missense_MutationGAp.E1859K
SEKI_SKIN176700673176700785176700744176700744Missense_MutationCGp.R1861G
CAL29_URINARY_TRACT176707566176707835176707611176707611Missense_MutationTCp.S1890P
SNU1033_LARGE_INTESTINE176707566176707835176707634176707634Missense_MutationTGp.C1897W
NB5_AUTONOMIC_GANGLIA176707566176707835176707735176707735Missense_MutationGAp.C1931Y
NCIH1648_LUNG176707566176707835176707761176707761Missense_MutationCAp.Q1940K
HEC1B_ENDOMETRIUM176707566176707835176707797176707797Missense_MutationCTp.R1952W
HEC151_ENDOMETRIUM176709466176709582176709491176709491Missense_MutationGAp.G1973D
RCCJF_KIDNEY176709466176709582176709530176709530Missense_MutationGAp.R1986H
SNU1040_LARGE_INTESTINE176709466176709582176709544176709544Missense_MutationCTp.H1991Y
BT474_BREAST176715820176715926176715855176715855Missense_MutationCGp.L2063V
SW156_KIDNEY176715820176715926176715868176715868Missense_MutationAGp.K2067R
ME1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE176715820176715926176715892176715892Missense_MutationCAp.P2075Q
SF539_CENTRAL_NERVOUS_SYSTEM176636637176639196176637231176637231Nonsense_MutationCTp.R611*
CW2_LARGE_INTESTINE176636637176639196176638251176638251Nonsense_MutationGTp.G951*
TOV21G_OVARY176636637176639196176638491176638491Nonsense_MutationCTp.R1031*
NCIH1339_LUNG176707566176707835176707635176707635Nonsense_MutationATp.K1898*

Top

Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for NSD1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4COADrs1363405chr5:176636882A/G1.66e-05
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4COADrs1363405chr5:176636882A/G1.66e-05
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4COADrs3733875chr5:176637240G/T1.76e-03
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4COADrs3733875chr5:176637240G/T1.76e-03
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4BRCArs28932178chr5:176637576T/C7.79e-07
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4BRCArs28932178chr5:176637576T/C7.80e-07
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4BRCArs3733875chr5:176637240G/T1.07e-06
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4BRCArs3733875chr5:176637240G/T1.07e-06
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4KIRPrs3733875chr5:176637240G/T1.48e-03
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4KIRPrs3733875chr5:176637240G/T1.48e-03
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4LGGrs1363405chr5:176636882A/G4.88e-07
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4LGGrs1363405chr5:176636882A/G4.91e-07
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4LGGrs28932178chr5:176637576T/C3.29e-06
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4LGGrs28932178chr5:176637576T/C3.32e-06
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4LGGrs3733875chr5:176637240G/T1.65e-04
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4LGGrs3733875chr5:176637240G/T1.67e-04
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4KIRCrs28932178chr5:176637576T/C5.51e-05
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4KIRCrs28932178chr5:176637576T/C5.52e-05
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4KIRCrs3733875chr5:176637240G/T6.82e-05
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4KIRCrs3733875chr5:176637240G/T6.82e-05
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4LIHCrs28932178chr5:176637576T/C1.16e-03
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4LIHCrs28932178chr5:176637576T/C1.16e-03
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4PCPGrs28932178chr5:176637576T/C9.50e-04
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4PCPGrs28932178chr5:176637576T/C9.50e-04
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4PRADrs28932178chr5:176637576T/C1.59e-07
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4PRADrs28932178chr5:176637576T/C1.60e-07
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4PRADrs3733875chr5:176637240G/T2.98e-06
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4PRADrs3733875chr5:176637240G/T2.99e-06
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4PRADrs1363405chr5:176636882A/G1.62e-04
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4PRADrs1363405chr5:176636882A/G1.62e-04
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4THYMrs3733875chr5:176637240G/T4.99e-04
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4THYMrs3733875chr5:176637240G/T4.99e-04
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4THCArs28932178chr5:176637576T/C1.63e-07
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4THCArs28932178chr5:176637576T/C1.63e-07
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4THCArs3733875chr5:176637240G/T7.22e-07
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4THCArs3733875chr5:176637240G/T7.22e-07
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4THCArs1363405chr5:176636882A/G3.14e-06
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4THCArs1363405chr5:176636882A/G3.14e-06
exon_skip_4400535176631120:176631293:176636636:176639196:176662821:176662946176636636:176639196ENST00000347982.4,ENST00000439151.2,ENST00000354179.4THCArs28932178chr5:176637576T/C2.70e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NSD1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for NSD1


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RelatedDrugs for NSD1

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 NSD1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
NSD1C0175695Sotos' syndrome14CTD_human;ORPHANET;UNIPROT
NSD1C0004352Autistic Disorder1CTD_human
NSD1C0010606Adenoid Cystic Carcinoma1CTD_human
NSD1C0265210Weaver syndrome1CTD_human;ORPHANET
NSD1C3714756Intellectual Disability1CTD_human