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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 EHMT1

check button Gene summary
Gene informationGene symbol

EHMT1

Gene ID

79813

Gene nameeuchromatic histone lysine methyltransferase 1
SynonymsEHMT1-IT1|EUHMTASE1|Eu-HMTase1|FP13812|GLP|GLP1|KLEFS1|KMT1D
Cytomap

9q34.3

Type of geneprotein-coding
Descriptionhistone-lysine N-methyltransferase EHMT1EHMT1 intronic transcript 1G9a-like protein 1H3-K9-HMTase 5euchromatic histone-lysine N-methyltransferase 1histone H3-K9 methyltransferase 5histone-lysine N-methyltransferase, H3 lysine-9 specific 5lysine N-m
Modification date20180522
UniProtAcc

Q9H9B1

ContextPubMed: EHMT1 [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
EHMT1

GO:0006325

chromatin organization

12004135

EHMT1

GO:0016571

histone methylation

12004135

EHMT1

GO:0018027

peptidyl-lysine dimethylation

20118233


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Exon skipping events across known transcript of Ensembl for EHMT1 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 EHMT1

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 EHMT1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5021929140513464:140513501:140605418:140605482:140611077:140611502140605418:140605482ENSG00000181090.13ENST00000334856.6,ENST00000460843.1
exon_skip_5021969140513464:140513501:140611077:140611634:140622800:140622981140611077:140611634ENSG00000181090.13ENST00000371394.2
exon_skip_5022029140605418:140605482:140611077:140611634:140622800:140622981140611077:140611634ENSG00000181090.13ENST00000462484.1,ENST00000334856.6,ENST00000460843.1
exon_skip_5022089140611546:140611634:140622800:140622981:140637822:140637980140622800:140622981ENSG00000181090.13ENST00000371394.2,ENST00000462484.1,ENST00000334856.6,ENST00000460843.1
exon_skip_5022099140611546:140611634:140622800:140622981:140637843:140637980140622800:140622981ENSG00000181090.13ENST00000495657.1
exon_skip_5022149140638515:140638542:140646782:140646860:140648622:140648743140646782:140646860ENSG00000181090.13ENST00000371394.2,ENST00000462484.1,ENST00000334856.6,ENST00000462942.1,ENST00000460843.1
exon_skip_5022219140648682:140648743:140652331:140652463:140657126:140657272140652331:140652463ENSG00000181090.13ENST00000371394.2,ENST00000462484.1,ENST00000334856.6,ENST00000465566.1,ENST00000462942.1,ENST00000460843.1
exon_skip_5022229140652331:140652463:140657126:140657272:140669560:140669704140657126:140657272ENSG00000181090.13ENST00000371394.2,ENST00000462484.1,ENST00000334856.6,ENST00000462942.1,ENST00000460843.1
exon_skip_5022249140657126:140657272:140669560:140669704:140671069:140671233140669560:140669704ENSG00000181090.13ENST00000371394.2,ENST00000462484.1,ENST00000334856.6,ENST00000462942.1,ENST00000460843.1
exon_skip_5022289140676742:140676849:140685299:140685422:140693264:140693366140685299:140685422ENSG00000181090.13ENST00000462942.1,ENST00000460843.1
exon_skip_5022329140695331:140695436:140697695:140697804:140705912:140706067140697695:140697804ENSG00000181090.13ENST00000486164.1
exon_skip_5022349140695331:140695436:140705912:140706067:140707457:140707625140705912:140706067ENSG00000181090.13ENST00000488242.1,ENST00000462942.1,ENST00000460843.1
exon_skip_5022379140705912:140706067:140707457:140707625:140707837:140707896140707457:140707625ENSG00000181090.13ENST00000488242.1,ENST00000486164.1,ENST00000462942.1,ENST00000460843.1
exon_skip_5022409140707942:140707982:140708882:140708960:140710398:140710514140708882:140708960ENSG00000181090.13ENST00000462942.1,ENST00000460843.1
exon_skip_5022449140708882:140708960:140710398:140710514:140711890:140711977140710398:140710514ENSG00000181090.13ENST00000462942.1,ENST00000460843.1
exon_skip_5022469140711890:140711977:140712511:140712590:140728800:140728976140712511:140712590ENSG00000181090.13ENST00000494249.1,ENST00000475564.1,ENST00000460843.1

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

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Exon skipping events with PSIs in GTEx for EHMT1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_5021929140513464:140513501:140605418:140605482:140611077:140611502140605418:140605482ENSG00000181090.13ENST00000334856.6,ENST00000460843.1
exon_skip_5021969140513464:140513501:140611077:140611634:140622800:140622981140611077:140611634ENSG00000181090.13ENST00000371394.2
exon_skip_5022029140605418:140605482:140611077:140611634:140622800:140622981140611077:140611634ENSG00000181090.13ENST00000462484.1,ENST00000334856.6,ENST00000460843.1
exon_skip_5022089140611546:140611634:140622800:140622981:140637822:140637980140622800:140622981ENSG00000181090.13ENST00000462484.1,ENST00000334856.6,ENST00000460843.1,ENST00000371394.2
exon_skip_5022099140611546:140611634:140622800:140622981:140637843:140637980140622800:140622981ENSG00000181090.13ENST00000495657.1
exon_skip_5022149140638515:140638542:140646782:140646860:140648622:140648743140646782:140646860ENSG00000181090.13ENST00000462484.1,ENST00000334856.6,ENST00000460843.1,ENST00000371394.2,ENST00000462942.1
exon_skip_5022219140648682:140648743:140652331:140652463:140657126:140657272140652331:140652463ENSG00000181090.13ENST00000462484.1,ENST00000334856.6,ENST00000460843.1,ENST00000371394.2,ENST00000462942.1,ENST00000465566.1
exon_skip_5022229140652331:140652463:140657126:140657272:140669560:140669704140657126:140657272ENSG00000181090.13ENST00000462484.1,ENST00000334856.6,ENST00000460843.1,ENST00000371394.2,ENST00000462942.1
exon_skip_5022249140657126:140657272:140669560:140669704:140671069:140671233140669560:140669704ENSG00000181090.13ENST00000462484.1,ENST00000334856.6,ENST00000460843.1,ENST00000371394.2,ENST00000462942.1
exon_skip_5022289140676742:140676849:140685299:140685422:140693264:140693366140685299:140685422ENSG00000181090.13ENST00000460843.1,ENST00000462942.1
exon_skip_5022329140695331:140695436:140697695:140697804:140705912:140706067140697695:140697804ENSG00000181090.13ENST00000486164.1
exon_skip_5022349140695331:140695436:140705912:140706067:140707457:140707625140705912:140706067ENSG00000181090.13ENST00000460843.1,ENST00000462942.1,ENST00000488242.1
exon_skip_5022379140705912:140706067:140707457:140707625:140707837:140707896140707457:140707625ENSG00000181090.13ENST00000460843.1,ENST00000462942.1,ENST00000486164.1,ENST00000488242.1
exon_skip_5022409140707942:140707982:140708882:140708960:140710398:140710514140708882:140708960ENSG00000181090.13ENST00000460843.1,ENST00000462942.1
exon_skip_5022449140708882:140708960:140710398:140710514:140711890:140711977140710398:140710514ENSG00000181090.13ENST00000460843.1,ENST00000462942.1
exon_skip_5022469140711890:140711977:140712511:140712590:140728800:140728976140712511:140712590ENSG00000181090.13ENST00000460843.1,ENST00000494249.1,ENST00000475564.1
exon_skip_5022489140712511:140712590:140741011:140741118:140759130:140764468140741011:140741118ENSG00000181090.13ENST00000462942.1

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 EHMT1

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
ENST00000460843140605418140605482Frame-shift
ENST00000460843140611077140611634Frame-shift
ENST00000460843140622800140622981Frame-shift
ENST00000460843140657126140657272Frame-shift
ENST00000460843140705912140706067Frame-shift
ENST00000460843140710398140710514Frame-shift
ENST00000460843140712511140712590Frame-shift
ENST00000460843140646782140646860In-frame
ENST00000460843140652331140652463In-frame
ENST00000460843140669560140669704In-frame
ENST00000460843140685299140685422In-frame
ENST00000460843140707457140707625In-frame
ENST00000460843140708882140708960In-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
ENST00000460843140605418140605482Frame-shift
ENST00000460843140611077140611634Frame-shift
ENST00000460843140622800140622981Frame-shift
ENST00000460843140657126140657272Frame-shift
ENST00000460843140705912140706067Frame-shift
ENST00000460843140710398140710514Frame-shift
ENST00000460843140712511140712590Frame-shift
ENST00000460843140646782140646860In-frame
ENST00000460843140652331140652463In-frame
ENST00000460843140669560140669704In-frame
ENST00000460843140685299140685422In-frame
ENST00000460843140707457140707625In-frame
ENST00000460843140708882140708960In-frame

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Infer the effects of exon skipping event on protein functional features for EHMT1

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
ENST000004608435112129814064678214064686011981275390416
ENST000004608435112129814065233114065246313971528456500
ENST000004608435112129814066956014066970416751818549597
ENST000004608435112129814068529914068542224102532794835
ENST0000046084351121298140707457140707625289530629561011
ENST00000460843511212981407088821407089603208328510601086

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
ENST000004608435112129814064678214064686011981275390416
ENST000004608435112129814065233114065246313971528456500
ENST000004608435112129814066956014066970416751818549597
ENST000004608435112129814068529914068542224102532794835
ENST0000046084351121298140707457140707625289530629561011
ENST00000460843511212981407088821407089603208328510601086

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
Q9H9B1390416671298Alternative sequenceID=VSP_002223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H9B139041621298ChainID=PRO_0000186067;Note=Histone-lysine N-methyltransferase EHMT1
Q9H9B1390416406409Compositional biasNote=Poly-Glu
Q9H9B1456500671298Alternative sequenceID=VSP_002223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H9B145650021298ChainID=PRO_0000186067;Note=Histone-lysine N-methyltransferase EHMT1
Q9H9B1456500492492Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
Q9H9B1456500483483Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q9H9B1549597671298Alternative sequenceID=VSP_002223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H9B154959721298ChainID=PRO_0000186067;Note=Histone-lysine N-methyltransferase EHMT1
Q9H9B1549597559559Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
Q9H9B1549597555555Sequence conflictNote=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9H9B1549597561561Sequence conflictNote=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9H9B1549597561561Sequence conflictNote=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9H9B1794835671298Alternative sequenceID=VSP_002223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H9B1794835795808Alternative sequenceID=VSP_040717;Note=In isoform 4. AGANIDTCSEDQRT->FCRLGSPRSRGCLW;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9H9B17948358091298Alternative sequenceID=VSP_040718;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9H9B179483521298ChainID=PRO_0000186067;Note=Histone-lysine N-methyltransferase EHMT1
Q9H9B1794835786795HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6BY9
Q9H9B1794835809815HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6BY9
Q9H9B1794835819828HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6BY9
Q9H9B1794835772801RepeatNote=ANK 2
Q9H9B1794835805834RepeatNote=ANK 3
Q9H9B19561011671298Alternative sequenceID=VSP_002223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H9B195610118091298Alternative sequenceID=VSP_040718;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9H9B19561011970972Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6BY9
Q9H9B1956101110081012Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HNA
Q9H9B1956101121298ChainID=PRO_0000186067;Note=Histone-lysine N-methyltransferase EHMT1
Q9H9B19561011952960HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6BY9
Q9H9B19561011975978HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6BY9
Q9H9B19561011983994HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HNA
Q9H9B1956101110041004Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9H9B19561011938967RepeatNote=ANK 7
Q9H9B195610119711004RepeatNote=ANK 8
Q9H9B110601086671298Alternative sequenceID=VSP_002223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H9B1106010868091298Alternative sequenceID=VSP_040718;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9H9B11060108610651068Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HNA
Q9H9B11060108621298ChainID=PRO_0000186067;Note=Histone-lysine N-methyltransferase EHMT1
Q9H9B11060108610601123DomainNote=Pre-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00157
Q9H9B11060108610741078HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HNA
Q9H9B11060108610621062Metal bindingNote=Zinc 1
Q9H9B11060108610621062Metal bindingNote=Zinc 2
Q9H9B11060108610641064Metal bindingNote=Zinc 1
Q9H9B11060108610681068Metal bindingNote=Zinc 1
Q9H9B11060108610681068Metal bindingNote=Zinc 3
Q9H9B11060108610731073Metal bindingNote=Zinc 1
Q9H9B11060108610751075Metal bindingNote=Zinc 2
Q9H9B11060108610751075Natural variantID=VAR_069183;Note=In KLEFS1. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19264732;Dbxref=PMID:19264732


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
Q9H9B1390416671298Alternative sequenceID=VSP_002223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H9B139041621298ChainID=PRO_0000186067;Note=Histone-lysine N-methyltransferase EHMT1
Q9H9B1390416406409Compositional biasNote=Poly-Glu
Q9H9B1456500671298Alternative sequenceID=VSP_002223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H9B145650021298ChainID=PRO_0000186067;Note=Histone-lysine N-methyltransferase EHMT1
Q9H9B1456500492492Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
Q9H9B1456500483483Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:24275569;Dbxref=PMID:24275569
Q9H9B1549597671298Alternative sequenceID=VSP_002223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H9B154959721298ChainID=PRO_0000186067;Note=Histone-lysine N-methyltransferase EHMT1
Q9H9B1549597559559Cross-linkNote=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733
Q9H9B1549597555555Sequence conflictNote=N->D;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9H9B1549597561561Sequence conflictNote=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9H9B1549597561561Sequence conflictNote=E->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q9H9B1794835671298Alternative sequenceID=VSP_002223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H9B1794835795808Alternative sequenceID=VSP_040717;Note=In isoform 4. AGANIDTCSEDQRT->FCRLGSPRSRGCLW;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9H9B17948358091298Alternative sequenceID=VSP_040718;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9H9B179483521298ChainID=PRO_0000186067;Note=Histone-lysine N-methyltransferase EHMT1
Q9H9B1794835786795HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6BY9
Q9H9B1794835809815HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6BY9
Q9H9B1794835819828HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6BY9
Q9H9B1794835772801RepeatNote=ANK 2
Q9H9B1794835805834RepeatNote=ANK 3
Q9H9B19561011671298Alternative sequenceID=VSP_002223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H9B195610118091298Alternative sequenceID=VSP_040718;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9H9B19561011970972Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6BY9
Q9H9B1956101110081012Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HNA
Q9H9B1956101121298ChainID=PRO_0000186067;Note=Histone-lysine N-methyltransferase EHMT1
Q9H9B19561011952960HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6BY9
Q9H9B19561011975978HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:6BY9
Q9H9B19561011983994HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HNA
Q9H9B1956101110041004Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q9H9B19561011938967RepeatNote=ANK 7
Q9H9B195610119711004RepeatNote=ANK 8
Q9H9B110601086671298Alternative sequenceID=VSP_002223;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
Q9H9B1106010868091298Alternative sequenceID=VSP_040718;Note=In isoform 4. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334
Q9H9B11060108610651068Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HNA
Q9H9B11060108621298ChainID=PRO_0000186067;Note=Histone-lysine N-methyltransferase EHMT1
Q9H9B11060108610601123DomainNote=Pre-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00157
Q9H9B11060108610741078HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:3HNA
Q9H9B11060108610621062Metal bindingNote=Zinc 1
Q9H9B11060108610621062Metal bindingNote=Zinc 2
Q9H9B11060108610641064Metal bindingNote=Zinc 1
Q9H9B11060108610681068Metal bindingNote=Zinc 1
Q9H9B11060108610681068Metal bindingNote=Zinc 3
Q9H9B11060108610731073Metal bindingNote=Zinc 1
Q9H9B11060108610751075Metal bindingNote=Zinc 2
Q9H9B11060108610751075Natural variantID=VAR_069183;Note=In KLEFS1. C->Y;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:19264732;Dbxref=PMID:19264732


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SNVs in the skipped exons for EHMT1

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
BLCATCGA-DK-AA6Q-01exon_skip_502192
140605419140605482140605432140605432Frame_Shift_DelG-p.R12fs
LIHCTCGA-DD-A3A0-01exon_skip_502196
exon_skip_502202
140611078140611634140611309140611309Frame_Shift_DelA-p.Q106fs
LIHCTCGA-DD-A3A1-01exon_skip_502208
exon_skip_502209
140622801140622981140622922140622922Frame_Shift_DelC-p.S255fs
LIHCTCGA-DD-A1EG-01exon_skip_502214
140646783140646860140646789140646789Frame_Shift_DelG-p.G393fs
PRADTCGA-XK-AAIW-01exon_skip_502237
140707458140707625140707502140707502Frame_Shift_DelA-p.E971fs
STADTCGA-BR-4363-01exon_skip_502237
140707458140707625140707505140707506Frame_Shift_DelGA-p.972_972del
STADTCGA-BR-4363-01exon_skip_502237
140707458140707625140707505140707506Frame_Shift_DelGA-p.G972fs
LIHCTCGA-DD-A1EG-01exon_skip_502246
140712512140712590140712519140712519Frame_Shift_DelG-p.G1157fs
CESCTCGA-LP-A7HU-01exon_skip_502208
exon_skip_502209
140622801140622981140622861140622861Nonsense_MutationGTp.E235*
UCECTCGA-AP-A0LM-01exon_skip_502221
140652332140652463140652403140652403Nonsense_MutationGAp.W474*
HNSCTCGA-QK-A8Z7-01exon_skip_502237
140707458140707625140707501140707501Nonsense_MutationGTp.E971*
LUSCTCGA-51-4079-01exon_skip_502246
140712512140712590140712552140712552Nonsense_MutationCTp.R1168*

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
RKO_LARGE_INTESTINE140611078140611634140611232140611232Frame_Shift_DelC-p.N80fs
DV90_LUNG140622801140622981140622909140622909Frame_Shift_DelC-p.P252fs
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE140605419140605482140605440140605440Missense_MutationCTp.P15S
5637_URINARY_TRACT140605419140605482140605443140605443Missense_MutationCAp.Q16K
KM12_LARGE_INTESTINE140605419140605482140605456140605456Missense_MutationGAp.C20Y
SF539_CENTRAL_NERVOUS_SYSTEM140611078140611634140611086140611086Missense_MutationAGp.M32V
CL34_LARGE_INTESTINE140611078140611634140611116140611116Missense_MutationCGp.Q42E
NCIH2135_LUNG140611078140611634140611146140611146Missense_MutationGAp.G52S
OVKATE_OVARY140611078140611634140611158140611158Missense_MutationGTp.G56W
PFSK1_CENTRAL_NERVOUS_SYSTEM140611078140611634140611180140611180Missense_MutationCTp.A63V
T47D_BREAST140611078140611634140611221140611221Missense_MutationGTp.A77S
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE140611078140611634140611227140611227Missense_MutationGAp.V79I
K5_THYROID140611078140611634140611326140611326Missense_MutationGAp.D112N
GCT_SOFT_TISSUE140611078140611634140611464140611464Missense_MutationGAp.G158R
HEC1B_ENDOMETRIUM140611078140611634140611490140611490Missense_MutationCAp.S166R
SKGT4_OESOPHAGUS140611078140611634140611497140611497Missense_MutationCGp.P169A
TK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE140611078140611634140611506140611506Missense_MutationCTp.P172S
KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE140611078140611634140611509140611509Missense_MutationGAp.A173T
HSC39_STOMACH140611078140611634140611512140611512Missense_MutationGAp.A174T
BICR16_UPPER_AERODIGESTIVE_TRACT140611078140611634140611581140611581Missense_MutationGAp.D197N
LXF289_LUNG140611078140611634140611606140611606Missense_MutationACp.K205T
MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE140611078140611634140611630140611630Missense_MutationGAp.G213D
SBC1_LUNG140611078140611634140611630140611630Missense_MutationGAp.G213D
SKMES1_LUNG140622801140622981140622976140622976Missense_MutationAGp.Q273R
SNUC2A_LARGE_INTESTINE140646783140646860140646843140646843Missense_MutationGAp.G411S
SNUC2B_LARGE_INTESTINE140646783140646860140646843140646843Missense_MutationGAp.G411S
OC316_OVARY140646783140646860140646849140646849Missense_MutationGAp.E413K
HT115_LARGE_INTESTINE140646783140646860140646849140646849Missense_MutationGAp.E413K
OC314_OVARY140646783140646860140646849140646849Missense_MutationGAp.E413K
TYKNU_OVARY140657127140657272140657214140657214Missense_MutationGAp.R530Q
DU145_PROSTATE140669561140669704140669563140669563Missense_MutationGTp.L550F
HCT15_LARGE_INTESTINE140669561140669704140669649140669649Missense_MutationGAp.R579Q
CCK81_LARGE_INTESTINE140669561140669704140669702140669702Missense_MutationGAp.A597T
NCIH2009_LUNG140685300140685422140685303140685303Missense_MutationGTp.G796C
HEC1B_ENDOMETRIUM140705913140706067140705938140705938Missense_MutationCTp.A913V
SNGM_ENDOMETRIUM140705913140706067140705964140705964Missense_MutationGAp.A922T
JHH5_LIVER140705913140706067140705991140705991Missense_MutationGAp.D931N
SNUC2A_LARGE_INTESTINE140705913140706067140706046140706046Missense_MutationAGp.E949G
SNUC2B_LARGE_INTESTINE140705913140706067140706046140706046Missense_MutationAGp.E949G
SW962_VULVA140705913140706067140706051140706051Missense_MutationCTp.R951C
CAL120_BREAST140707458140707625140707499140707499Missense_MutationAGp.K970R
SNUC5_LARGE_INTESTINE140707458140707625140707585140707585Missense_MutationGAp.A999T
HCC1569_BREAST140708883140708960140708929140708929Missense_MutationGAp.G1076D
HEC151_ENDOMETRIUM140710399140710514140710403140710403Missense_MutationGAp.G1088D
LIM1215_LARGE_INTESTINE140710399140710514140710498140710498Missense_MutationGAp.V1120I
EW13_BONE140712512140712590140712546140712546Missense_MutationGAp.D1166N
HCC2218_BREAST140712512140712590140712568140712568Missense_MutationATp.Y1173F
NCIH82_LUNG140669561140669704140669692140669692Nonsense_MutationCAp.Y593*
DMS79_LUNG140705913140706067140705916140705916Nonsense_MutationGTp.E906*
HEC59_ENDOMETRIUM140710399140710514140710475140710475Nonsense_MutationGAp.W1112*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EHMT1

check button sQTL information located at the skipped exons.
Exon skip IDChromosomeThree exonsSkippped exonENSTCancer typeSNP idLocationDNA change (ref/var)P-value
exon_skip_5021969140513464:140513501:140611077:140611634:140622800:140622981140611077:140611634ENST00000371394.2BLCArs3812497chr9:140611436A/G1.59e-03
exon_skip_5021969140513464:140513501:140611077:140611634:140622800:140622981140611077:140611634ENST00000371394.2BRCArs3812497chr9:140611436A/G3.28e-03
exon_skip_5021969140513464:140513501:140611077:140611634:140622800:140622981140611077:140611634ENST00000371394.2PRADrs3812497chr9:140611436A/G3.37e-03
exon_skip_5022029140605418:140605482:140611077:140611634:140622800:140622981140611077:140611634ENST00000462484.1,ENST00000334856.6,ENST00000460843.1BLCArs3812497chr9:140611436A/G1.59e-03
exon_skip_5022029140605418:140605482:140611077:140611634:140622800:140622981140611077:140611634ENST00000462484.1,ENST00000334856.6,ENST00000460843.1BRCArs3812497chr9:140611436A/G3.28e-03
exon_skip_5022029140605418:140605482:140611077:140611634:140622800:140622981140611077:140611634ENST00000462484.1,ENST00000334856.6,ENST00000460843.1PRADrs3812497chr9:140611436A/G3.37e-03

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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EHMT1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EHMT1


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RelatedDrugs for EHMT1

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 EHMT1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
EHMT1C0025149Medulloblastoma1CTD_human
EHMT1C0795833Kleefstra Syndrome1CTD_human;UNIPROT