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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 RPSMAP, MSBB, and Mayo

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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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3'-UTR located exon skipping events lost miRNA binding sites

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SNVs in the skipped exons with depth of coverage

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AD stage-associated exon skipping events

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Splicing Quantitative Trait Loci (sQTLs) in the skipped exons

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Correlation with RNA binding proteins (RBPs)

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Related drugs with this gene

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Related diseases with this gene

Gene summary for HDAC1

check button Gene summary
Gene informationGene symbol

HDAC1

Gene ID

3065

Gene namehistone deacetylase 1
SynonymsGON-10|HD1|KDAC1|RPD3|RPD3L1
Cytomap

1p35.2-p35.1

Type of geneprotein-coding
Descriptionhistone deacetylase 1reduced potassium dependency, yeast homolog-like 1
Modification date20200327
UniProtAcc

B5BU61,

B5MGH2,

Q13547,

Q5TEE2,

Q6IT96,

Context- 32424276(HDAC1 modulates OGG1-initiated oxidative DNA damage repair in the aging brain and Alzheimer's disease)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
HDAC1

GO:0000122

negative regulation of transcription by RNA polymerase II

18854353

HDAC1

GO:0006476

protein deacetylation

17172643|23629966

HDAC1

GO:0045893

positive regulation of transcription, DNA-templated

16762839

HDAC1

GO:0045944

positive regulation of transcription by RNA polymerase II

16762839

HDAC1

GO:0060766

negative regulation of androgen receptor signaling pathway

15919722

HDAC1

GO:0070932

histone H3 deacetylation

12590135

HDAC1

GO:0070933

histone H4 deacetylation

12590135


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Gene structures and expression levels for HDAC1

check buttonSkipped exons in the ROSMAP, MSBB, and Mayo 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

ENSG00000116478
check button Differentially expressed gene analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionBase mean exp.log2FC(AD/control)P-valueAdj. p-value

check button Differentially expressed isoform analysis across multiple brain tissues between AD and control.
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value

check button Landscape of isoform expressions across multiple brain tissues between AD and control.
gencode gene structure

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Exon skipping events with PSIs in ROSMAP, MSBB, and Mayo for HDAC1

check button Landscape of individual exon skipping event across AD tissues and controls (PSI heatmap).
boxplot

check button All exon skipping events in AD cohorts.
Exon skip IDchrExons involved in exon skippingSkipped exon
exon_skip_128975chr132292161:32292218:32302621:32302733:32316665:3231678232302621:32302733
exon_skip_191373chr132326939:32327077:32327406:32327458:32327536:3232767432327406:32327458
exon_skip_196206chr132329068:32329160:32330578:32330686:32330768:3233087532330578:32330686
exon_skip_203608chr132326939:32327077:32327406:32327458:32327536:3232762632327406:32327458
exon_skip_239412chr132326943:32327077:32327406:32327458:32327536:3232762632327406:32327458
exon_skip_30854chr132327536:32327677:32329068:32329160:32330578:3233068632329068:32329160
exon_skip_45406chr132316665:32316782:32324479:32324553:32326939:3232707732324479:32324553
exon_skip_63572chr132332090:32332242:32332701:32332749:32333017:3233307932332701:32332749

check button Differentially expressed PSI values of individual exon skipping events in multiple brain tissues between AD and control.
Exon skipping informationTissue typeAvg(PSIs) in ADAvg(PSIs) in controlDifference (PSI)Adj. p-value


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Open reading frame (ORF) annotation in the exon skipping event for HDAC1

check button Open reading frame (ORF) of individual exon skipping events in ROSMAP based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003735483233270132332749Frame-shift
ENST000003735483232447932324553In-frame
ENST000003735483232906832329160In-frame

check button Open reading frame (ORF) of individual exon skipping events in MSBB based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF

check button Open reading frame (ORF) of individual exon skipping events in Mayo based on the Ensembl gene structure combined from isoforms.
ENSTStart of skipped exonEnd of skipped exonORF
ENST000003735483233057832330686Frame-shift
ENST000003735483233270132332749Frame-shift
ENST000003735483232447932324553In-frame
ENST000003735483232906832329160In-frame

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Infer the effects of exon skipping event on protein functional features for HDAC1

p-ENSG00000116478_img4.png
boxplot

check button Loci of skipped exons in ROSMAP across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003735482141482323244793232455336643994118
ENST0000037354821414823232906832329160722813212243

check button Loci of skipped exons in MSBB across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end

check button Loci of skipped exons in Mayo across genomic, transcript, and protein sequence levels of In-frame cases.
ENSTLength of mRNALength of AA seq.Genomic startGenomic endmRNA startmRNA endAA startAA end
ENST000003735482141482323244793232455336643994118
ENST0000037354821414823232906832329160722813212243

check button Lost protein functional features of individual exon skipping events in ROSMAP.
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
Q13547941181482ChainID=PRO_0000114687;Note=Histone deacetylase 1
Q13547941188894HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4BKX
Q1354794118106125HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4BKX
Q13547941189321RegionNote=Histone deacetylase
Q13547941189799TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4BKX
Q13547212243223228Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4BKX
Q135472122431482ChainID=PRO_0000114687;Note=Histone deacetylase 1
Q13547212243217219HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4BKX
Q13547212243234252HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4BKX
Q13547212243220220Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
Q135472122439321RegionNote=Histone deacetylase

check button Lost protein functional features of individual exon skipping events in MSBB.
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

check button Lost protein functional features of individual exon skipping events in Mayo.
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
Q13547941181482ChainID=PRO_0000114687;Note=Histone deacetylase 1
Q13547941188894HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4BKX
Q1354794118106125HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4BKX
Q13547941189321RegionNote=Histone deacetylase
Q13547941189799TurnOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4BKX
Q13547212243223228Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4BKX
Q135472122431482ChainID=PRO_0000114687;Note=Histone deacetylase 1
Q13547212243217219HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4BKX
Q13547212243234252HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:4BKX
Q13547212243220220Modified residueNote=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861
Q135472122439321RegionNote=Histone deacetylase


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3'-UTR located exon skipping events that lost miRNA binding sites in HDAC1

check button 3'-UTR exon skipping evnets lost miRNA binding.
Tissue typeENSTExon skip startExon skip endmicroRNABinding site by TargetScanBinding type by TargetScanBdinding site by miRandaScore of miRandaEnergy by miRanda

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SNVs in the skipped exons for HDAC1

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

check button - Depth of Coverage in the skipped exon of the mutated samples.

check button - Sashimi plot in the skipped exon of the mutated samples.

check button - Non-synonymous mutations located in the skipped exons.
Cancer typeSampleESIDSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

check button - Non-synonymous mutations located in the skipped exons in CCLE.
SampleSkipped exon startSkipped exon endMutation startMutation endMutation typeReference seqMutation seqAAchange

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AD stage-associated exon skippint events for HDAC1

check button Associated exon skipping events with Braak staging or Clinical Dementia Rating (CDR).
AD stage infoCohortTissueSE idCoefficient P-valueChromosomeStrandE1 startE1 endSkipped startSkipped endE2 startE2 end

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for HDAC1

check button sQTL information located at the skipped exons.
Tissue typeExon skip IDSNP idLocationP-valueFDR

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Correlation with RNA binding proteins (RBPs) for HDAC1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value

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RelatedDrugs for HDAC1

check button Approved drugs targeting this gene.
(DrugBank Version 5.1.0 2018-04-02)
UniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
Q13547approved|investigationalDB01169Arsenic trioxidesmall moleculeQ13547
Q13547approved|investigationalDB01593Zincsmall moleculeQ13547
Q13547approved|investigationalDB02546Vorinostatsmall moleculeQ13547
Q13547approved|investigationalDB05015Belinostatsmall moleculeQ13547
Q13547approved|investigationalDB06176Romidepsinsmall moleculeQ13547
Q13547approved|investigationalDB06603Panobinostatsmall moleculeQ13547
Q13547approved|investigationalDB08868Fingolimodsmall moleculeQ13547
Q13547approved|investigationalDB14487Zinc acetatesmall moleculeQ13547
Q13547approved|investigationalDB14533Zinc chloridesmall moleculeQ13547

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RelatedDiseases for HDAC1

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