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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 NCOA1

check button Gene summary
Gene informationGene symbol

NCOA1

Gene ID

8648

Gene namenuclear receptor coactivator 1
SynonymsF-SRC-1|KAT13A|RIP160|SRC1|bHLHe42|bHLHe74
Cytomap

2p23.3

Type of geneprotein-coding
Descriptionnuclear receptor coactivator 1Hin-2 proteinclass E basic helix-loop-helix protein 74renal carcinoma antigen NY-REN-52steroid receptor coactivator-1
Modification date20200313
UniProtAcc

B5MCN7,

Q15788,

Context- 28704393(Whole Exome Sequence-Based Association Analyses of Plasma amyloid-β in African and European Americans; The Atherosclerosis Risk in Communities-Neurocognitive Study)

check button Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez
GeneGO IDGO termPubMed ID
NCOA1

GO:0000435

positive regulation of transcription from RNA polymerase II promoter by galactose

10207113

NCOA1

GO:0006351

transcription, DNA-templated

9223431

NCOA1

GO:0045893

positive regulation of transcription, DNA-templated

11891224|15367689

NCOA1

GO:0045944

positive regulation of transcription by RNA polymerase II

15919756


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Gene structures and expression levels for NCOA1

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

ENSG00000084676
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.
gencode gene structure
Tissue typeDEG directionENSTTranscript info.Base mean exp.log2FC(AD/control)P-valueAdjc. p-value
CBUPENST00000407230.5NCOA1-206:protein_coding:NCOA19.935717e+011.011730e+001.173605e-051.205486e-04

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 NCOA1

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_100888chr224556015:24556055:24564295:24564430:24584476:2458448424564295:24564430
exon_skip_110786chr224492058:24492188:24564295:24564430:24584476:2458448424564295:24564430
exon_skip_116720chr224758059:24758156:24762687:24762776:24768079:2476813524762687:24762776
exon_skip_127788chr224554389:24554573:24556015:24556055:24564295:2456437124556015:24556055
exon_skip_140075chr224554389:24554573:24556015:24556055:24564295:2456443024556015:24556055
exon_skip_14464chr224697759:24697798:24705086:24705233:24706568:2470788824705086:24705233
exon_skip_152809chr224757973:24758156:24762687:24762776:24768221:2476838824762687:24762776
exon_skip_158654chr224492058:24492188:24554389:24554573:24564295:2456443024554389:24554573
exon_skip_168142chr224762687:24762776:24768079:24768135:24768224:2476854324768079:24768135
exon_skip_181030chr224757973:24758156:24762687:24762776:24768079:2476813524762687:24762776
exon_skip_18224chr224564310:24564430:24584476:24584560:24643966:2464405524584476:24584560
exon_skip_195510chr224762687:24762776:24768079:24768135:24768221:2476827124768079:24768135
exon_skip_211407chr224693252:24693347:24697658:24697798:24705086:2470523324697658:24697798
exon_skip_215319chr224691481:24691660:24693252:24693347:24697658:2469779824693252:24693347
exon_skip_236471chr224658661:24658766:24665749:24665915:24673366:2467346324665749:24665915
exon_skip_237036chr224757973:24758156:24762687:24762776:24768224:2476854324762687:24762776
exon_skip_248266chr224584541:24584560:24643966:24644122:24658661:2465876624643966:24644122
exon_skip_258874chr224758059:24758156:24762687:24762776:24768221:2476838824762687:24762776
exon_skip_289289chr224707727:24707888:24710931:24711111:24726589:2472670624710931:24711111
exon_skip_293152chr224492058:24492188:24554389:24554573:24556015:2455605524554389:24554573
exon_skip_296046chr224757973:24758156:24762687:24762776:24768221:2476827124762687:24762776
exon_skip_32479chr224697658:24697798:24705086:24705233:24706568:2470788824705086:24705233
exon_skip_33966chr224762687:24762776:24768079:24768135:24768221:2476838824768079:24768135
exon_skip_74536chr224741784:24742186:24751982:24752156:24757973:2475815624751982:24752156
exon_skip_77158chr224762687:24762776:24768079:24768135:24768224:2476827124768079:24768135

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 NCOA1

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
ENST0000040696124564295245644305UTR-5UTR
ENST0000040696124584476245845605UTR-5UTR
ENST0000034833224643966246441225UTR-5UTR
ENST0000040696124643966246441225UTR-5UTR
ENST000003483322466574924665915Frame-shift
ENST000004069612466574924665915Frame-shift
ENST000003483322470508624705233Frame-shift
ENST000004069612470508624705233Frame-shift
ENST000003483322471093124711111Frame-shift
ENST000004069612471093124711111Frame-shift
ENST000003483322475198224752156Frame-shift
ENST000004069612475198224752156Frame-shift
ENST000003483322469325224693347In-frame
ENST000004069612469325224693347In-frame
ENST000003483322469765824697798In-frame
ENST000004069612469765824697798In-frame
ENST000003483322476268724762776In-frame
ENST000004069612476268724762776In-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
ENST0000040696124584476245845605UTR-5UTR
ENST000003483322466574924665915Frame-shift
ENST000004069612466574924665915Frame-shift
ENST000003483322469325224693347In-frame
ENST000004069612469325224693347In-frame
ENST000003483322469765824697798In-frame
ENST000004069612469765824697798In-frame
ENST000003483322476268724762776In-frame
ENST000004069612476268724762776In-frame

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
ENST0000040696124584476245845605UTR-5UTR
ENST0000034833224643966246441225UTR-5UTR
ENST0000040696124643966246441225UTR-5UTR
ENST000003483322466574924665915Frame-shift
ENST000004069612466574924665915Frame-shift
ENST000003483322470508624705233Frame-shift
ENST000004069612470508624705233Frame-shift
ENST000003483322471093124711111Frame-shift
ENST000004069612471093124711111Frame-shift
ENST000003483322469325224693347In-frame
ENST000004069612469325224693347In-frame
ENST000003483322469765824697798In-frame
ENST000004069612469765824697798In-frame
ENST000003483322476268724762776In-frame
ENST000004069612476268724762776In-frame

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Infer the effects of exon skipping event on protein functional features for NCOA1

p-ENSG00000084676_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
ENST000003483326912144124693252246933479721066238269
ENST0000040696173061441246932522469334713661460238269
ENST0000034833269121441246976582469779810681207270316
ENST0000040696173061441246976582469779814621601270316
ENST000003483326912144124762687247627764325441313551385
ENST000004069617306144124762687247627764719480713551385

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
ENST000003483326912144124693252246933479721066238269
ENST0000040696173061441246932522469334713661460238269
ENST0000034833269121441246976582469779810681207270316
ENST0000040696173061441246976582469779814621601270316
ENST000003483326912144124762687247627764325441313551385
ENST000004069617306144124762687247627764719480713551385

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
ENST000003483326912144124693252246933479721066238269
ENST0000040696173061441246932522469334713661460238269
ENST0000034833269121441246976582469779810681207270316
ENST0000040696173061441246976582469779814621601270316
ENST000003483326912144124762687247627764325441313551385
ENST000004069617306144124762687247627764719480713551385

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
Q15788238269261266Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788238269261266Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q1578823826921441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q1578823826921441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q15788270316272276Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316272276Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q1578827031621441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q1578827031621441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q15788270316278283HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316278283HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316288299HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316288299HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316309319HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316309319HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q157881355138513851385Alternative sequenceID=VSP_011738;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8754792;Dbxref=PMID:8754792
Q157881355138513851385Alternative sequenceID=VSP_011738;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8754792;Dbxref=PMID:8754792
Q157881355138521441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q157881355138521441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q157881355138513721372Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q157881355138513721372Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q157881355138513781378MutagenesisNote=Does not affect sumoylation of the protein. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12529333;Dbxref=PMID:12529333
Q157881355138513781378MutagenesisNote=Does not affect sumoylation of the protein. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12529333;Dbxref=PMID:12529333
Q157881355138513701370Sequence conflictNote=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q157881355138513701370Sequence conflictNote=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q157881355138513821382Sequence conflictNote=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q157881355138513821382Sequence conflictNote=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q15788238269261266Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788238269261266Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q1578823826921441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q1578823826921441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q15788270316272276Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316272276Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q1578827031621441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q1578827031621441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q15788270316278283HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316278283HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316288299HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316288299HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316309319HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316309319HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q157881355138513851385Alternative sequenceID=VSP_011738;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8754792;Dbxref=PMID:8754792
Q157881355138513851385Alternative sequenceID=VSP_011738;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8754792;Dbxref=PMID:8754792
Q157881355138521441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q157881355138521441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q157881355138513721372Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q157881355138513721372Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q157881355138513781378MutagenesisNote=Does not affect sumoylation of the protein. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12529333;Dbxref=PMID:12529333
Q157881355138513781378MutagenesisNote=Does not affect sumoylation of the protein. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12529333;Dbxref=PMID:12529333
Q157881355138513701370Sequence conflictNote=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q157881355138513701370Sequence conflictNote=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q157881355138513821382Sequence conflictNote=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q157881355138513821382Sequence conflictNote=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305

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
Q15788238269261266Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788238269261266Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q1578823826921441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q1578823826921441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q15788270316272276Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316272276Beta strandOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q1578827031621441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q1578827031621441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q15788270316278283HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316278283HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316288299HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316288299HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316309319HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q15788270316309319HelixOntology_term=ECO:0000244;evidence=ECO:0000244|PDB:5NWM
Q157881355138513851385Alternative sequenceID=VSP_011738;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8754792;Dbxref=PMID:8754792
Q157881355138513851385Alternative sequenceID=VSP_011738;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8754792;Dbxref=PMID:8754792
Q157881355138521441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q157881355138521441ChainID=PRO_0000094400;Note=Nuclear receptor coactivator 1
Q157881355138513721372Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q157881355138513721372Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
Q157881355138513781378MutagenesisNote=Does not affect sumoylation of the protein. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12529333;Dbxref=PMID:12529333
Q157881355138513781378MutagenesisNote=Does not affect sumoylation of the protein. K->R;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12529333;Dbxref=PMID:12529333
Q157881355138513701370Sequence conflictNote=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q157881355138513701370Sequence conflictNote=Q->H;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q157881355138513821382Sequence conflictNote=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305
Q157881355138513821382Sequence conflictNote=D->G;Ontology_term=ECO:0000305;evidence=ECO:0000305


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3'-UTR located exon skipping events that lost miRNA binding sites in NCOA1

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 NCOA1

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 NCOA1

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 NCOA1

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 NCOA1

check button Correlated RBP and related information.
Tissue typeRBP nameExon skip IDCorrelation coeifficientP-value
CBCNOT4exon_skip_195510-4.132041e-016.195303e-08
CBFXR2exon_skip_195510-4.046294e-011.223659e-07
CBTRA2Aexon_skip_195510-4.793154e-011.639989e-10
CBTRA2Aexon_skip_77158-4.497780e-017.734618e-09
IFGLIN28Aexon_skip_1008885.606063e-018.204757e-03
IFGA1CFexon_skip_182245.887249e-019.818860e-04

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RelatedDrugs for NCOA1

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

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RelatedDiseases for NCOA1

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