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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 ASH1L

check button Gene summary
Gene informationGene symbol

ASH1L

Gene ID

55870

Gene nameASH1 like histone lysine methyltransferase
SynonymsASH1|ASH1L1|KMT2H|MRD52
Cytomap

1q22

Type of geneprotein-coding
Descriptionhistone-lysine N-methyltransferase ASH1LASH1-like proteinabsent small and homeotic disks protein 1 homologash1 (absent, small, or homeotic)-likelysine N-methyltransferase 2Hprobable histone-lysine N-methyltransferase ASH1L
Modification date20180519
UniProtAcc

Q9NR48

ContextPubMed: ASH1L [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
ASH1L

GO:0097676

histone H3-K36 dimethylation

26002201


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Exon skipping events across known transcript of Ensembl for ASH1L 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 ASH1L

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 ASH1L

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_324861155309118:155309159:155311726:155311893:155313104:155313277155311726:155311893ENSG00000116539.6ENST00000392403.3,ENST00000368346.3
exon_skip_324871155313973:155314064:155315753:155315998:155316173:155316220155315753:155315998ENSG00000116539.6ENST00000492987.2
exon_skip_324891155313973:155314064:155316173:155316260:155317446:155317692155316173:155316260ENSG00000116539.6ENST00000392403.3,ENST00000368346.3
exon_skip_324921155319117:155319250:155319332:155319387:155322496:155322649155319332:155319387ENSG00000116539.6ENST00000392403.3,ENST00000368346.3
exon_skip_324931155327106:155327201:155327375:155327540:155330091:155330200155327375:155327540ENSG00000116539.6ENST00000392403.3,ENST00000368346.3
exon_skip_324941155340294:155340441:155340567:155340774:155348071:155348180155340567:155340774ENSG00000116539.6ENST00000392403.3,ENST00000368346.3
exon_skip_324951155349833:155349907:155365249:155365344:155385534:155385714155365249:155365344ENSG00000116539.6ENST00000392403.3
exon_skip_324981155365249:155365344:155385534:155385714:155408117:155408859155385534:155385714ENSG00000116539.6ENST00000392403.3,ENST00000368346.3
exon_skip_324991155385534:155385714:155408117:155408859:155429587:155429689155408117:155408859ENSG00000116539.6ENST00000392403.3,ENST00000368346.3
exon_skip_325021155408117:155408859:155429587:155429689:155447676:155452240155429587:155429689ENSG00000116539.6ENST00000392403.3,ENST00000368346.3
exon_skip_325061155429587:155429689:155447676:155452240:155490890:155491409155447676:155452240ENSG00000116539.6ENST00000392403.3,ENST00000368346.3
exon_skip_325141155451201:155452240:155490890:155491409:155531943:155532086155490890:155491409ENSG00000116539.6ENST00000392403.3
exon_skip_325181155490890:155491409:155531943:155532086:155532569:155532598155531943:155532086ENSG00000116539.6ENST00000548830.1

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

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Exon skipping events with PSIs in GTEx for ASH1L

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_324861155309118:155309159:155311726:155311893:155313104:155313277155311726:155311893ENSG00000116539.6ENST00000368346.3,ENST00000392403.3
exon_skip_324871155313973:155314064:155315753:155315998:155316173:155316220155315753:155315998ENSG00000116539.6ENST00000492987.2
exon_skip_324891155313973:155314064:155316173:155316260:155317446:155317692155316173:155316260ENSG00000116539.6ENST00000368346.3,ENST00000392403.3
exon_skip_324921155319117:155319250:155319332:155319387:155322496:155322649155319332:155319387ENSG00000116539.6ENST00000368346.3,ENST00000392403.3
exon_skip_324931155327106:155327201:155327375:155327540:155330091:155330200155327375:155327540ENSG00000116539.6ENST00000368346.3,ENST00000392403.3
exon_skip_324941155340294:155340441:155340567:155340774:155348071:155348180155340567:155340774ENSG00000116539.6ENST00000368346.3,ENST00000392403.3
exon_skip_324951155349833:155349907:155365249:155365344:155385534:155385714155365249:155365344ENSG00000116539.6ENST00000392403.3
exon_skip_324981155365249:155365344:155385534:155385714:155408117:155408859155385534:155385714ENSG00000116539.6ENST00000368346.3,ENST00000392403.3
exon_skip_324991155385534:155385714:155408117:155408859:155429587:155429689155408117:155408859ENSG00000116539.6ENST00000368346.3,ENST00000392403.3
exon_skip_325021155408117:155408859:155429587:155429689:155447676:155452240155429587:155429689ENSG00000116539.6ENST00000368346.3,ENST00000392403.3
exon_skip_325061155429587:155429689:155447676:155452240:155490890:155491409155447676:155452240ENSG00000116539.6ENST00000368346.3,ENST00000392403.3
exon_skip_325141155451201:155452240:155490890:155491409:155531943:155532086155490890:155491409ENSG00000116539.6ENST00000392403.3
exon_skip_325181155490890:155491409:155531943:155532086:155532569:155532598155531943:155532086ENSG00000116539.6ENST00000548830.1

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 ASH1L

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
ENST00000368346155311726155311893Frame-shift
ENST00000368346155319332155319387Frame-shift
ENST00000368346155408117155408859Frame-shift
ENST00000368346155447676155452240Frame-shift
ENST00000368346155316173155316260In-frame
ENST00000368346155327375155327540In-frame
ENST00000368346155340567155340774In-frame
ENST00000368346155385534155385714In-frame
ENST00000368346155429587155429689In-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
ENST00000368346155311726155311893Frame-shift
ENST00000368346155319332155319387Frame-shift
ENST00000368346155408117155408859Frame-shift
ENST00000368346155447676155452240Frame-shift
ENST00000368346155316173155316260In-frame
ENST00000368346155327375155327540In-frame
ENST00000368346155340567155340774In-frame
ENST00000368346155385534155385714In-frame
ENST00000368346155429587155429689In-frame

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Infer the effects of exon skipping event on protein functional features for ASH1L

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
ENST000003683461195929691554295871554296895625572616611695
ENST000003683461195929691553855341553857146469664819432002
ENST000003683461195929691553405671553407746988719421162184
ENST000003683461195929691553273751553275407451761522702325
ENST000003683461195929691553161731553162608459854526062635

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
ENST000003683461195929691554295871554296895625572616611695
ENST000003683461195929691553855341553857146469664819432002
ENST000003683461195929691553405671553407746988719421162184
ENST000003683461195929691553273751553275407451761522702325
ENST000003683461195929691553161731553162608459854526062635

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
Q9NR481661169512969ChainID=PRO_0000259516;Note=Histone-lysine N-methyltransferase ASH1L
Q9NR481661169515801791Compositional biasNote=Ser-rich
Q9NR481943200212969ChainID=PRO_0000259516;Note=Histone-lysine N-methyltransferase ASH1L
Q9NR482116218421332135Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YPU
Q9NR482116218421472151Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482116218421552163Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482116218421702173Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482116218421772180Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482116218412969ChainID=PRO_0000259516;Note=Histone-lysine N-methyltransferase ASH1L
Q9NR482116218420912142DomainNote=AWS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00562
Q9NR482116218421452261DomainNote=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190
Q9NR482116218421142117HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482116218421302132HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482116218421812190HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482116218421482969Natural variantID=VAR_080560;Note=In MRD52. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28191889;Dbxref=PMID:28191889
Q9NR482116218420692288RegionNote=Catalytic domain
Q9NR482116218421242126TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482116218421372141TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482270232522822284Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482270232512969ChainID=PRO_0000259516;Note=Histone-lysine N-methyltransferase ASH1L
Q9NR482270232522692285DomainNote=Post-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00155
Q9NR482270232523172317Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99MY8
Q9NR482270232523192319Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99MY8
Q9NR482270232523232323Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99MY8
Q9NR482270232521482969Natural variantID=VAR_080560;Note=In MRD52. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28191889;Dbxref=PMID:28191889
Q9NR482270232520692288RegionNote=Catalytic domain
Q9NR482606263512969ChainID=PRO_0000259516;Note=Histone-lysine N-methyltransferase ASH1L
Q9NR482606263521482969Natural variantID=VAR_080560;Note=In MRD52. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28191889;Dbxref=PMID:28191889
Q9NR482606263525852631Zinc fingerNote=PHD-type


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
Q9NR481661169512969ChainID=PRO_0000259516;Note=Histone-lysine N-methyltransferase ASH1L
Q9NR481661169515801791Compositional biasNote=Ser-rich
Q9NR481943200212969ChainID=PRO_0000259516;Note=Histone-lysine N-methyltransferase ASH1L
Q9NR482116218421332135Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YPU
Q9NR482116218421472151Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482116218421552163Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482116218421702173Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482116218421772180Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482116218412969ChainID=PRO_0000259516;Note=Histone-lysine N-methyltransferase ASH1L
Q9NR482116218420912142DomainNote=AWS;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00562
Q9NR482116218421452261DomainNote=SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00190
Q9NR482116218421142117HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482116218421302132HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482116218421812190HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482116218421482969Natural variantID=VAR_080560;Note=In MRD52. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28191889;Dbxref=PMID:28191889
Q9NR482116218420692288RegionNote=Catalytic domain
Q9NR482116218421242126TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482116218421372141TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482270232522822284Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4YNM
Q9NR482270232512969ChainID=PRO_0000259516;Note=Histone-lysine N-methyltransferase ASH1L
Q9NR482270232522692285DomainNote=Post-SET;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00155
Q9NR482270232523172317Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99MY8
Q9NR482270232523192319Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99MY8
Q9NR482270232523232323Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q99MY8
Q9NR482270232521482969Natural variantID=VAR_080560;Note=In MRD52. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28191889;Dbxref=PMID:28191889
Q9NR482270232520692288RegionNote=Catalytic domain
Q9NR482606263512969ChainID=PRO_0000259516;Note=Histone-lysine N-methyltransferase ASH1L
Q9NR482606263521482969Natural variantID=VAR_080560;Note=In MRD52. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:28191889;Dbxref=PMID:28191889
Q9NR482606263525852631Zinc fingerNote=PHD-type


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SNVs in the skipped exons for ASH1L

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

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

check button - Non-synonymous mutations located in the skipped exons in TCGA.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange
LIHCTCGA-DD-A3A0-01exon_skip_32486
155311727155311893155311757155311757Frame_Shift_DelG-p.P2815fs
LIHCTCGA-DD-A3A0-01exon_skip_32492
155319333155319387155319339155319339Frame_Shift_DelT-p.K2479fs
LIHCTCGA-G3-A3CJ-01exon_skip_32492
155319333155319387155319354155319354Frame_Shift_DelA-p.L2472fs
LIHCTCGA-DD-A1EG-01exon_skip_32493
155327376155327540155327427155327427Frame_Shift_DelT-p.K2308fs
LIHCTCGA-DD-A3A1-01exon_skip_32493
155327376155327540155327514155327514Frame_Shift_DelT-p.K2279fs
LIHCTCGA-DD-A1EG-01exon_skip_32494
155340568155340774155340649155340649Frame_Shift_DelC-p.G2158fs
LIHCTCGA-G3-A3CJ-01exon_skip_32495
155365250155365344155365342155365342Frame_Shift_DelG-p.P2004fs
LIHCTCGA-DD-A1EG-01exon_skip_32498
155385535155385714155385598155385598Frame_Shift_DelG-p.P1982fs
LIHCTCGA-DD-A3A0-01exon_skip_32499
155408118155408859155408163155408163Frame_Shift_DelT-p.K1928fs
LIHCTCGA-G3-A3CJ-01exon_skip_32499
155408118155408859155408193155408193Frame_Shift_DelC-p.G1918fs
LIHCTCGA-G3-A3CJ-01exon_skip_32499
155408118155408859155408195155408195Frame_Shift_DelT-p.K1917fs
COADTCGA-G4-6586-01exon_skip_32499
155408118155408859155408481155408481Frame_Shift_DelT-p.N1822fs
LIHCTCGA-DD-A1EG-01exon_skip_32499
155408118155408859155408481155408481Frame_Shift_DelT-p.N1822fs
LIHCTCGA-DD-A3A0-01exon_skip_32499
155408118155408859155408569155408569Frame_Shift_DelG-p.H1794fs
LIHCTCGA-G3-A3CJ-01exon_skip_32502
155429588155429689155429618155429618Frame_Shift_DelT-p.R1686fs
LIHCTCGA-G3-A3CJ-01exon_skip_32506
155447677155452240155447781155447781Frame_Shift_DelA-p.L1627fs
LIHCTCGA-DD-A3A0-01exon_skip_32506
155447677155452240155447783155447783Frame_Shift_DelT-p.K1626fs
SARCTCGA-WP-A9GB-01exon_skip_32506
155447677155452240155447818155447818Frame_Shift_DelT-p.R1615fs
LIHCTCGA-DD-A39Y-01exon_skip_32506
155447677155452240155447847155447847Frame_Shift_DelT-p.N1605fs
STADTCGA-CG-4442-01exon_skip_32506
155447677155452240155448019155448019Frame_Shift_DelT-p.S1548fs
LIHCTCGA-G3-A3CJ-01exon_skip_32506
155447677155452240155448618155448618Frame_Shift_DelT-p.K1349fs
PRADTCGA-EJ-5494-01exon_skip_32506
155447677155452240155448689155448689Frame_Shift_DelA-p.F1324fs
UCECTCGA-D1-A160-01exon_skip_32506
155447677155452240155448916155448917Frame_Shift_DelTA-p.H1248fs
LIHCTCGA-G3-A3CJ-01exon_skip_32506
155447677155452240155448980155448980Frame_Shift_DelA-p.F1227fs
COADTCGA-AU-6004-01exon_skip_32506
155447677155452240155448996155448996Frame_Shift_DelT-p.K1222fs
COADTCGA-AZ-4615-01exon_skip_32506
155447677155452240155448996155448996Frame_Shift_DelT-p.K1222fs
LIHCTCGA-DD-A39Y-01exon_skip_32506
155447677155452240155449515155449515Frame_Shift_DelT-p.K1049fs
LIHCTCGA-DD-A39Y-01exon_skip_32506
155447677155452240155449696155449696Frame_Shift_DelT-p.M989fs
COADTCGA-A6-6781-01exon_skip_32506
155447677155452240155449753155449753Frame_Shift_DelT-p.I970fs
STADTCGA-BR-4257-01exon_skip_32506
155447677155452240155449753155449753Frame_Shift_DelT-p.I970fs
UCECTCGA-D1-A17R-01exon_skip_32506
155447677155452240155449753155449753Frame_Shift_DelT-p.I970fs
LIHCTCGA-DD-A1EG-01exon_skip_32506
155447677155452240155449995155449995Frame_Shift_DelT-p.K889fs
LIHCTCGA-DD-A3A0-01exon_skip_32506
155447677155452240155450003155450003Frame_Shift_DelA-p.F886fs
LIHCTCGA-BC-A3KG-01exon_skip_32506
155447677155452240155450058155450058Frame_Shift_DelA-p.L868fs
STADTCGA-BR-4257-01exon_skip_32506
155447677155452240155450116155450116Frame_Shift_DelT-p.I849fs
LIHCTCGA-DD-A1EG-01exon_skip_32506
155447677155452240155450138155450138Frame_Shift_DelC-p.G841fs
LIHCTCGA-DD-A39Y-01exon_skip_32506
155447677155452240155450183155450183Frame_Shift_DelG-p.P826fs
LIHCTCGA-DD-A1EG-01exon_skip_32506
155447677155452240155450319155450319Frame_Shift_DelT-p.K781fs
LIHCTCGA-DD-A3A0-01exon_skip_32506
155447677155452240155450361155450361Frame_Shift_DelG-p.P767fs
COADTCGA-A6-6653-01exon_skip_32506
155447677155452240155450527155450527Frame_Shift_DelT-p.R712fs
LIHCTCGA-G3-A3CJ-01exon_skip_32506
155447677155452240155450988155450988Frame_Shift_DelG-p.P558fs
LUADTCGA-95-7039-01exon_skip_32506
155447677155452240155451048155451048Frame_Shift_DelG-p.S538fs
LIHCTCGA-DD-A1EG-01exon_skip_32506
155447677155452240155451129155451129Frame_Shift_DelT-p.K511fs
LIHCTCGA-DD-A3A0-01exon_skip_32506
155447677155452240155451393155451393Frame_Shift_DelT-p.N423fs
LIHCTCGA-DD-A1EG-01exon_skip_32506
155447677155452240155451642155451642Frame_Shift_DelT-p.K341fs
LUADTCGA-78-7166-01exon_skip_32506
155447677155452240155451804155451804Frame_Shift_DelT-p.D286fs
LIHCTCGA-DD-A1EG-01exon_skip_32514
155490891155491409155491186155491186Frame_Shift_DelT-p.N42fs
LIHCTCGA-DD-A39Y-01exon_skip_32514
155490891155491409155491186155491186Frame_Shift_DelT-p.N42fs
LIHCTCGA-DD-A3A0-01exon_skip_32514
155490891155491409155491186155491186Frame_Shift_DelT-p.N42fs
LIHCTCGA-BC-A3KG-01exon_skip_32514
155490891155491409155491256155491256Frame_Shift_DelA-p.S19fs
UCECTCGA-A5-A0GA-01exon_skip_32499
155408118155408859155408443155408444Frame_Shift_Ins-Tp.K1834fs
LIHCTCGA-BC-A112-01exon_skip_32506
155447677155452240155449388155449389Frame_Shift_Ins-Gp.L1091fs
STADTCGA-HU-A4GT-01exon_skip_32506
155447677155452240155449752155449753Frame_Shift_Ins-Tp.I970fs
STADTCGA-HU-A4GT-01exon_skip_32506
155447677155452240155449753155449754Frame_Shift_Ins-Tp.I970fs
STADTCGA-BR-4279-01exon_skip_32506
155447677155452240155451842155451843Frame_Shift_Ins-Tp.K273fs
STADTCGA-BR-4279-01exon_skip_32506
155447677155452240155451843155451844Frame_Shift_Ins-Tp.K273fs
UCECTCGA-AP-A05J-01exon_skip_32514
155490891155491409155491008155491009Frame_Shift_Ins-Tp.K101fs
LUADTCGA-64-1678-01exon_skip_32514
155490891155491409155491185155491186Frame_Shift_Ins-Tp.N42fs
UCECTCGA-BG-A0M3-01exon_skip_32514
155490891155491409155491185155491186Frame_Shift_Ins-Tp.N42fs
READTCGA-AG-A002-01exon_skip_32494
155340568155340774155340671155340671Nonsense_MutationGAp.R2146X
BLCATCGA-S5-A6DX-01exon_skip_32494
155340568155340774155340689155340689Nonsense_MutationGAp.Q2145*
LUADTCGA-97-7938-01exon_skip_32499
155408118155408859155408305155408305Nonsense_MutationCAp.E1881*
HNSCTCGA-CN-A498-01exon_skip_32499
155408118155408859155408358155408358Nonsense_MutationGCp.S1863*
PRADTCGA-EJ-A8FS-01exon_skip_32502
155429588155429689155429593155429593Nonsense_MutationGCp.S1694*
SKCMTCGA-EE-A29L-06exon_skip_32502
155429588155429689155429669155429669Nonsense_MutationTAp.K1669*
SKCMTCGA-EE-A29L-06exon_skip_32502
155429588155429689155429669155429669Nonsense_MutationTAp.K1669X
MESOTCGA-3U-A98E-01exon_skip_32502
155429588155429689155429684155429684Nonsense_MutationGAp.Q1664*
STADTCGA-BR-8487-01exon_skip_32506
155447677155452240155448745155448745Nonsense_MutationGAp.R1306*
LUADTCGA-05-4389-01exon_skip_32506
155447677155452240155448829155448829Nonsense_MutationGAp.Q1278*
BLCATCGA-FD-A3NA-01exon_skip_32506
155447677155452240155449222155449222Nonsense_MutationGAp.Q1147*
BLCATCGA-XF-AAML-01exon_skip_32506
155447677155452240155449333155449333Nonsense_MutationGAp.Q1110*
PRADTCGA-V1-A8X3-01exon_skip_32506
155447677155452240155449429155449429Nonsense_MutationGAp.Q1078*
LUADTCGA-50-6594-01exon_skip_32506
155447677155452240155449759155449759Nonsense_MutationTAp.K968*
CESCTCGA-C5-A1BJ-01exon_skip_32506
155447677155452240155450754155450754Nonsense_MutationGCp.S636*
BLCATCGA-E7-A6MD-01exon_skip_32506
155447677155452240155451157155451157Nonsense_MutationGAp.Q502*
UCECTCGA-AX-A05Z-01exon_skip_32506
155447677155452240155451184155451184Nonsense_MutationCAp.E493*
PRADTCGA-EJ-5505-01exon_skip_32506
155447677155452240155451980155451980Nonsense_MutationATp.C227*
PRADTCGA-EJ-5505-01exon_skip_32506
155447677155452240155451980155451980Nonsense_MutationATp.C227X
UCECTCGA-AP-A056-01exon_skip_32514
155490891155491409155491082155491082Nonsense_MutationCAp.E77*
UCECTCGA-BS-A0UF-01exon_skip_32514
155490891155491409155491082155491082Nonsense_MutationCAp.E77*
UCECTCGA-BS-A0UV-01exon_skip_32514
155490891155491409155491082155491082Nonsense_MutationCAp.E77*
LIHCTCGA-DD-A4NN-01exon_skip_32502
155429588155429689155429586155429586Splice_SiteGT.

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
SKUT1_SOFT_TISSUE155447677155452240155448028155448029Frame_Shift_DelGA-p.P1545fs
RCK8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155448613155448613Frame_Shift_DelT-p.R1350fs
DOV13_OVARY155447677155452240155448996155448996Frame_Shift_DelT-p.K1222fs
LNCAPCLONEFGC_PROSTATE155447677155452240155448996155448996Frame_Shift_DelT-p.K1222fs
CAL51_BREAST155447677155452240155448996155448996Frame_Shift_DelT-p.K1222fs
IGROV1_OVARY155447677155452240155448996155448996Frame_Shift_DelT-p.K1222fs
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155448996155448996Frame_Shift_DelT-p.K1222fs
MRKNU1_BREAST155447677155452240155449865155449865Frame_Shift_DelG-p.S933fs
JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155450527155450527Frame_Shift_DelT-p.R712fs
BICR18_UPPER_AERODIGESTIVE_TRACT155447677155452240155450557155450558Frame_Shift_DelTA-p.T702fs
HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155451304155451304Frame_Shift_DelA-p.S453fs
BICR18_UPPER_AERODIGESTIVE_TRACT155447677155452240155451497155451498Frame_Shift_DelTG-p.A388fs
T3M10_LUNG155327376155327540155327426155327427Frame_Shift_Ins-Tp.S2309fs
TO175T_FIBROBLAST155327376155327540155327426155327427Frame_Shift_Ins-Tp.S2309fs
UACC812_BREAST155327376155327540155327426155327427Frame_Shift_Ins-Tp.S2309fs
22RV1_PROSTATE155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
BICR16_UPPER_AERODIGESTIVE_TRACT155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
BICR31_UPPER_AERODIGESTIVE_TRACT155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
CAPAN2_PANCREAS155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
COLO201_LARGE_INTESTINE155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
EFO27_OVARY155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
HCC1806_BREAST155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
HCC202_BREAST155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
HEC108_ENDOMETRIUM155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
HEC151_ENDOMETRIUM155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
HS939T_SKIN155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
KPNYN_AUTONOMIC_GANGLIA155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
LU65_LUNG155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
MINO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
NCIH1299_LUNG155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
NCIH1385_LUNG155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
SNGM_ENDOMETRIUM155408118155408859155408443155408444Frame_Shift_Ins-Tp.L1835fs
A2058_SKIN155447677155452240155448995155448996Frame_Shift_Ins-Tp.K1222fs
BT12_SOFT_TISSUE155447677155452240155448995155448996Frame_Shift_Ins-TTp.K1222fs
CW2_LARGE_INTESTINE155447677155452240155448995155448996Frame_Shift_Ins-Tp.K1222fs
HS274T_BREAST155447677155452240155448995155448996Frame_Shift_Ins-Tp.K1222fs
MOLM13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155448995155448996Frame_Shift_Ins-Tp.K1222fs
OVCAR4_OVARY155447677155452240155448995155448996Frame_Shift_Ins-Tp.K1222fs
TE441T_SOFT_TISSUE155447677155452240155448995155448996Frame_Shift_Ins-Tp.K1222fs
A498_KIDNEY155447677155452240155450526155450527Frame_Shift_Ins-Tp.R712fs
BICR18_UPPER_AERODIGESTIVE_TRACT155447677155452240155450554155450555Frame_Shift_Ins-CGp.S703fs
HCC1395_BREAST155447677155452240155449148155449150In_Frame_DelAGG-p.P1171del
HCC1395_MATCHED_NORMAL_TISSUE155447677155452240155449148155449150In_Frame_DelAGG-p.P1171del
BICR18_UPPER_AERODIGESTIVE_TRACT155311727155311893155311737155311737Missense_MutationTCp.K2822R
BICR18_UPPER_AERODIGESTIVE_TRACT155311727155311893155311879155311879Missense_MutationCTp.V2775I
OMC1_CERVIX155316174155316260155316224155316224Missense_MutationCTp.D2619N
KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155319333155319387155319367155319367Missense_MutationCTp.A2468T
NCIH660_PROSTATE155327376155327540155327419155327419Missense_MutationCTp.R2311Q
EVSAT_BREAST155327376155327540155327483155327483Missense_MutationGAp.R2290C
CCK81_LARGE_INTESTINE155365250155365344155365262155365262Missense_MutationGAp.P2031S
MHHES1_BONE155385535155385714155385602155385602Missense_MutationGAp.P1981S
NB1_AUTONOMIC_GANGLIA155385535155385714155385635155385635Missense_MutationGAp.P1970S
MCC13_SKIN155385535155385714155385679155385679Missense_MutationGAp.S1955F
JJN3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155408118155408859155408146155408146Missense_MutationCGp.E1934Q
JHOM2B_OVARY155408118155408859155408245155408245Missense_MutationCGp.V1901L
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155408118155408859155408362155408362Missense_MutationCTp.V1862I
SLR20_KIDNEY155408118155408859155408391155408391Missense_MutationCAp.R1852L
HEC251_ENDOMETRIUM155408118155408859155408415155408415Missense_MutationTCp.N1844S
GAK_SKIN155408118155408859155408443155408443Missense_MutationGTp.L1835I
KM12_LARGE_INTESTINE155408118155408859155408481155408481Missense_MutationTGp.N1822T
TTC442_SOFT_TISSUE155408118155408859155408517155408517Missense_MutationAGp.M1810T
HEC265_ENDOMETRIUM155408118155408859155408574155408574Missense_MutationGAp.S1791F
MDAPCA2B_PROSTATE155408118155408859155408694155408694Missense_MutationCTp.R1751H
KMBC2_URINARY_TRACT155408118155408859155408758155408758Missense_MutationTCp.M1730V
SCC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155408118155408859155408758155408758Missense_MutationTCp.M1730V
NCIH661_LUNG155429588155429689155429599155429599Missense_MutationGCp.T1692S
GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155429588155429689155429599155429599Missense_MutationGAp.T1692I
NCIH2887_LUNG155429588155429689155429608155429608Missense_MutationGTp.S1689Y
TC138_BONE155447677155452240155447791155447791Missense_MutationGAp.R1624W
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155447794155447794Missense_MutationCAp.G1623C
BICR18_UPPER_AERODIGESTIVE_TRACT155447677155452240155447794155447794Missense_MutationCAp.G1623C
LK2_LUNG155447677155452240155447823155447823Missense_MutationCTp.S1613N
KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155447941155447941Missense_MutationGAp.P1574S
HN_UPPER_AERODIGESTIVE_TRACT155447677155452240155447943155447943Missense_MutationGAp.T1573I
ASH3_THYROID155447677155452240155447971155447971Missense_MutationATp.S1564T
HEC251_ENDOMETRIUM155447677155452240155447985155447985Missense_MutationCTp.R1559Q
GB1_CENTRAL_NERVOUS_SYSTEM155447677155452240155448000155448000Missense_MutationTAp.E1554V
CAKI1_KIDNEY155447677155452240155448068155448068Missense_MutationCGp.K1531N
KYSE410_OESOPHAGUS155447677155452240155448213155448213Missense_MutationTCp.H1483R
SNGM_ENDOMETRIUM155447677155452240155448214155448214Missense_MutationGAp.H1483Y
CW2_LARGE_INTESTINE155447677155452240155448238155448238Missense_MutationAGp.Y1475H
MZ7MEL_SKIN155447677155452240155448250155448250Missense_MutationGAp.P1471S
T173_FIBROBLAST155447677155452240155448283155448283Missense_MutationGCp.L1460V
MEWO_SKIN155447677155452240155448414155448414Missense_MutationGAp.S1416F
NCIH2122_LUNG155447677155452240155448490155448490Missense_MutationGAp.L1391F
NCIBL2122_MATCHED_NORMAL_TISSUE155447677155452240155448490155448490Missense_MutationGAp.L1391F
SNU1040_LARGE_INTESTINE155447677155452240155448519155448519Missense_MutationGAp.S1381F
VMCUB1_URINARY_TRACT155447677155452240155448606155448606Missense_MutationCGp.R1352T
KM12_LARGE_INTESTINE155447677155452240155448726155448726Missense_MutationGAp.P1312L
SNU1040_LARGE_INTESTINE155447677155452240155448744155448744Missense_MutationCTp.R1306Q
SNU81_LARGE_INTESTINE155447677155452240155448744155448744Missense_MutationCTp.R1306Q
TE4_OESOPHAGUS155447677155452240155448787155448787Missense_MutationCTp.E1292K
LUDLU1_LUNG155447677155452240155448847155448847Missense_MutationGAp.R1272W
NCIH838_LUNG155447677155452240155448847155448847Missense_MutationGAp.R1272W
SNU81_LARGE_INTESTINE155447677155452240155448852155448852Missense_MutationCTp.R1270Q
AGS_STOMACH155447677155452240155448855155448855Missense_MutationTGp.K1269T
LS411N_LARGE_INTESTINE155447677155452240155449045155449045Missense_MutationCAp.D1206Y
LS180_LARGE_INTESTINE155447677155452240155449066155449066Missense_MutationTCp.S1199G
EB2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155449099155449099Missense_MutationTCp.I1188V
EB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155449099155449099Missense_MutationTCp.I1188V
KON_UPPER_AERODIGESTIVE_TRACT155447677155452240155449115155449115Missense_MutationTAp.E1182D
SNUC4_LARGE_INTESTINE155447677155452240155449183155449183Missense_MutationGAp.R1160W
KMOE2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155449321155449321Missense_MutationTAp.T1114S
NCIH1048_LUNG155447677155452240155449345155449345Missense_MutationGAp.P1106S
SKUT1_SOFT_TISSUE155447677155452240155449503155449503Missense_MutationCTp.R1053H
C99_LARGE_INTESTINE155447677155452240155449698155449698Missense_MutationTCp.K988R
M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155449737155449737Missense_MutationTCp.N975S
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155449749155449749Missense_MutationGCp.T971S
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155449824155449824Missense_MutationTCp.D946G
BE2M17_AUTONOMIC_GANGLIA155447677155452240155449903155449903Missense_MutationTCp.S920G
SKNBE2_AUTONOMIC_GANGLIA155447677155452240155449903155449903Missense_MutationTCp.S920G
HT115_LARGE_INTESTINE155447677155452240155449909155449909Missense_MutationTGp.S918R
SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155449944155449944Missense_MutationGTp.P906H
HEC108_ENDOMETRIUM155447677155452240155450112155450112Missense_MutationGTp.P850H
REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155450134155450134Missense_MutationGAp.P843S
NCIH727_LUNG155447677155452240155450167155450167Missense_MutationTCp.K832E
JHUEM7_ENDOMETRIUM155447677155452240155450187155450187Missense_MutationTGp.K825T
HEC251_ENDOMETRIUM155447677155452240155450319155450319Missense_MutationTGp.K781T
JHUEM7_ENDOMETRIUM155447677155452240155450439155450439Missense_MutationACp.L741R
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155450456155450456Missense_MutationTGp.E735D
SAOS2_BONE155447677155452240155450517155450517Missense_MutationCAp.R715I
HEC108_ENDOMETRIUM155447677155452240155450818155450818Missense_MutationGAp.H615Y
EW16_BONE155447677155452240155450839155450839Missense_MutationTCp.S608G
MCF7_BREAST155447677155452240155450839155450839Missense_MutationTCp.S608G
SNU81_LARGE_INTESTINE155447677155452240155450970155450970Missense_MutationAGp.V564A
KMS18_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155451052155451052Missense_MutationCAp.A537S
ZR751_BREAST155447677155452240155451118155451118Missense_MutationCTp.E515K
JHUEM2_ENDOMETRIUM155447677155452240155451210155451210Missense_MutationCTp.R484Q
CHP212_AUTONOMIC_GANGLIA155447677155452240155451245155451245Missense_MutationCGp.Q472H
SNU175_LARGE_INTESTINE155447677155452240155451348155451348Missense_MutationGAp.A438V
HEC1A_ENDOMETRIUM155447677155452240155451360155451360Missense_MutationTCp.E434G
PCM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155451395155451395Missense_MutationTCp.I422M
HEC151_ENDOMETRIUM155447677155452240155451483155451483Missense_MutationGAp.A393V
NCIH345_LUNG155447677155452240155451498155451498Missense_MutationGTp.A388E
SARC9371_BONE155447677155452240155451505155451505Missense_MutationCTp.D386N
BICR22_UPPER_AERODIGESTIVE_TRACT155447677155452240155451564155451564Missense_MutationCTp.G366E
EN_ENDOMETRIUM155447677155452240155451724155451724Missense_MutationTCp.T313A
CW2_LARGE_INTESTINE155447677155452240155451771155451771Missense_MutationAGp.V297A
SNGM_ENDOMETRIUM155447677155452240155451789155451789Missense_MutationGTp.P291Q
CP50EBV_MATCHED_NORMAL_TISSUE155447677155452240155451877155451877Missense_MutationCTp.V262I
CP50MELB_SKIN155447677155452240155451877155451877Missense_MutationCTp.V262I
DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155447677155452240155451958155451958Missense_MutationTCp.T235A
BICR18_UPPER_AERODIGESTIVE_TRACT155447677155452240155451958155451958Missense_MutationTCp.T235A
SNU738_CENTRAL_NERVOUS_SYSTEM155447677155452240155451988155451988Missense_MutationCAp.A225S
NCIH2009_LUNG155447677155452240155452137155452137Missense_MutationGAp.S175F
NCIH630_LARGE_INTESTINE155447677155452240155452157155452157Missense_MutationCAp.Q168H
HEC6_ENDOMETRIUM155490891155491409155490925155490925Missense_MutationGAp.T129M
HEC251_ENDOMETRIUM155490891155491409155491027155491027Missense_MutationCAp.R95I
MHHPREB1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE155490891155491409155491218155491218Missense_MutationCAp.L31F
MZ1PC_PANCREAS155490891155491409155491265155491265Missense_MutationCTp.E16K
PEO1_OVARY155490891155491409155491304155491304Missense_MutationGTp.P3T
HT115_LARGE_INTESTINE155340568155340774155340671155340671Nonsense_MutationGAp.R2151*
T3M10_LUNG155340568155340774155340761155340761Nonsense_MutationCAp.E2121*
CHAGOK1_LUNG155408118155408859155408358155408358Nonsense_MutationGCp.S1863*
SNU1040_LARGE_INTESTINE155447677155452240155448823155448823Nonsense_MutationGAp.R1280*
MRKNU1_BREAST155447677155452240155449840155449840Nonsense_MutationGAp.Q941*
LU134A_LUNG155447677155452240155450077155450077Nonsense_MutationCAp.E862*
NCIH23_LUNG155447677155452240155450158155450158Nonsense_MutationCAp.E835*
NCIH1155_LUNG155447677155452240155451997155451997Nonsense_MutationGAp.Q222*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for ASH1L

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 ASH1L


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for ASH1L


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RelatedDrugs for ASH1L

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 ASH1L

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
ASH1LC0023903Liver neoplasms1CTD_human