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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 BRD1

check button Gene summary
Gene informationGene symbol

BRD1

Gene ID

23774

Gene namebromodomain containing 1
SynonymsBRL|BRPF1|BRPF2
Cytomap

22q13.33

Type of geneprotein-coding
Descriptionbromodomain-containing protein 1BR140-like proteinbromodomain and PHD finger-containing protein 2
Modification date20180519
UniProtAcc

O95696

ContextPubMed: BRD1 [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
BRD1

GO:0043966

histone H3 acetylation

16387653


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Exon skipping events across known transcript of Ensembl for BRD1 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 BRD1

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 BRD1

check button Information of exkip skipping event in TCGA.
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3704322250170681:50170809:50171325:50171461:50181037:5018114250171325:50171461ENSG00000100425.14ENST00000438393.1,ENST00000404760.1,ENST00000404034.1,ENST00000342989.5,ENST00000457780.2,ENST00000542442.1,ENST00000216267.8
exon_skip_3704392250171325:50171461:50181037:50181142:50187681:5018794250181037:50181142ENSG00000100425.14ENST00000404034.1,ENST00000542442.1,ENST00000216267.8
exon_skip_3704422250171325:50171461:50181037:50181170:50187681:5018794250181037:50181170ENSG00000100425.14ENST00000438393.1
exon_skip_3704442250171325:50171461:50181037:50181535:50187681:5018794250181037:50181535ENSG00000100425.14ENST00000404760.1,ENST00000342989.5
exon_skip_3704512250181037:50181142:50181224:50181535:50187681:5018793550181224:50181535ENSG00000100425.14ENST00000457780.2
exon_skip_3704532250192635:50192767:50197851:50198008:50216598:5021685350197851:50198008ENSG00000100425.14ENST00000404760.1,ENST00000404034.1,ENST00000457780.2,ENST00000216267.8
exon_skip_3704582250197851:50198008:50211869:50212031:50214481:5021463450211869:50212031ENSG00000100425.14ENST00000342989.5
exon_skip_3704592250197851:50198008:50211869:50212031:50216598:5021685350211869:50212031ENSG00000100425.14ENST00000542442.1
exon_skip_3704632250197851:50198008:50216598:50217979:50221144:5022116050216598:50217979ENSG00000100425.14ENST00000404760.1
exon_skip_3704642250211869:50212031:50214481:50214634:50216598:5021685350214481:50214634ENSG00000100425.14ENST00000342989.5

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

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Exon skipping events with PSIs in GTEx for BRD1

check button Information of exkip skipping event in GTEx
Exon skip IDchrExons involved in exon skippingSkipped exonENSGENSTs
exon_skip_3704322250170681:50170809:50171325:50171461:50181037:5018114250171325:50171461ENSG00000100425.14ENST00000438393.1,ENST00000216267.8,ENST00000404034.1,ENST00000404760.1,ENST00000457780.2,ENST00000542442.1,ENST00000342989.5
exon_skip_3704392250171325:50171461:50181037:50181142:50187681:5018794250181037:50181142ENSG00000100425.14ENST00000216267.8,ENST00000404034.1,ENST00000542442.1
exon_skip_3704422250171325:50171461:50181037:50181170:50187681:5018794250181037:50181170ENSG00000100425.14ENST00000438393.1
exon_skip_3704442250171325:50171461:50181037:50181535:50187681:5018794250181037:50181535ENSG00000100425.14ENST00000404760.1,ENST00000342989.5
exon_skip_3704512250181037:50181142:50181224:50181535:50187681:5018793550181224:50181535ENSG00000100425.14ENST00000457780.2
exon_skip_3704532250192635:50192767:50197851:50198008:50216598:5021685350197851:50198008ENSG00000100425.14ENST00000216267.8,ENST00000404034.1,ENST00000404760.1,ENST00000457780.2
exon_skip_3704582250197851:50198008:50211869:50212031:50214481:5021463450211869:50212031ENSG00000100425.14ENST00000342989.5
exon_skip_3704592250197851:50198008:50211869:50212031:50216598:5021685350211869:50212031ENSG00000100425.14ENST00000542442.1
exon_skip_3704632250197851:50198008:50216598:50217979:50221144:5022116050216598:50217979ENSG00000100425.14ENST00000404760.1
exon_skip_3704642250211869:50212031:50214481:50214634:50216598:5021685350214481:50214634ENSG00000100425.14ENST00000342989.5

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 BRD1

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
ENST000002162675017132550171461Frame-shift
ENST000004040345017132550171461Frame-shift
ENST000002162675019785150198008Frame-shift
ENST000004040345019785150198008Frame-shift
ENST000002162675018103750181142In-frame
ENST000004040345018103750181142In-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
ENST000002162675017132550171461Frame-shift
ENST000004040345017132550171461Frame-shift
ENST000002162675019785150198008Frame-shift
ENST000004040345019785150198008Frame-shift
ENST000002162675018103750181142In-frame
ENST000004040345018103750181142In-frame

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Infer the effects of exon skipping event on protein functional features for BRD1

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
ENST0000021626746311058501810375018114228472951786821
ENST0000040403443291058501810375018114225452649786821

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
ENST0000021626746311058501810375018114228472951786821
ENST0000040403443291058501810375018114225452649786821

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
O95696786821786786Alternative sequenceID=VSP_040262;Note=In isoform 2. E->EGDKSPPKLEPSDALPLPSNSETNSEPPTLKPVELNPEQSKLFKRVTFDNESHSACTQSALVSGRPPEPTRASSGDVPAAAASAVAEPASDVNRRTSVLFCKSKSVSPPKSAKNTETQPTSPQLGTKTFLSV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O95696786821786786Alternative sequenceID=VSP_040262;Note=In isoform 2. E->EGDKSPPKLEPSDALPLPSNSETNSEPPTLKPVELNPEQSKLFKRVTFDNESHSACTQSALVSGRPPEPTRASSGDVPAAAASAVAEPASDVNRRTSVLFCKSKSVSPPKSAKNTETQPTSPQLGTKTFLSV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O9569678682111058ChainID=PRO_0000211177;Note=Bromodomain-containing protein 1
O9569678682111058ChainID=PRO_0000211177;Note=Bromodomain-containing protein 1
O95696786821803803Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O95696786821803803Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163


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
O95696786821786786Alternative sequenceID=VSP_040262;Note=In isoform 2. E->EGDKSPPKLEPSDALPLPSNSETNSEPPTLKPVELNPEQSKLFKRVTFDNESHSACTQSALVSGRPPEPTRASSGDVPAAAASAVAEPASDVNRRTSVLFCKSKSVSPPKSAKNTETQPTSPQLGTKTFLSV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O95696786821786786Alternative sequenceID=VSP_040262;Note=In isoform 2. E->EGDKSPPKLEPSDALPLPSNSETNSEPPTLKPVELNPEQSKLFKRVTFDNESHSACTQSALVSGRPPEPTRASSGDVPAAAASAVAEPASDVNRRTSVLFCKSKSVSPPKSAKNTETQPTSPQLGTKTFLSV;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:14702039;Dbxref=PMID:14702039
O9569678682111058ChainID=PRO_0000211177;Note=Bromodomain-containing protein 1
O9569678682111058ChainID=PRO_0000211177;Note=Bromodomain-containing protein 1
O95696786821803803Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163
O95696786821803803Modified residueNote=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163


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SNVs in the skipped exons for BRD1

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
LUADTCGA-86-A4JF-01exon_skip_370453
50197852501980085019790150197902Frame_Shift_Ins-Gp.A492fs
UCECTCGA-AP-A0LM-01exon_skip_370439
50181038501811425018106550181065Nonsense_MutationCAp.E813*
UCECTCGA-AP-A0LM-01exon_skip_370442
50181038501811705018106550181065Nonsense_MutationCAp.E813*
UCECTCGA-AP-A0LM-01exon_skip_370444
50181038501815355018106550181065Nonsense_MutationCAp.E813*
LUSCTCGA-60-2720-01exon_skip_370463
50216599502179795021744650217446Nonsense_MutationTAp.K174*
ACCTCGA-OR-A5J4-01exon_skip_370453
50197852501980085019800950198009Splice_SiteCA.

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
GP2D_LARGE_INTESTINE50216599502179795021667150216671Frame_Shift_DelT-p.K432fs
GP5D_LARGE_INTESTINE50216599502179795021667150216671Frame_Shift_DelT-p.K432fs
CW2_LARGE_INTESTINE50197852501980085019790150197902Frame_Shift_Ins-Gp.L492fs
PC9_LUNG50216599502179795021778850217789Frame_Shift_Ins-GATCp.I60fs
HEC151_ENDOMETRIUM50171326501714615017134450171344Missense_MutationCTp.S861N
WM2664_SKIN50171326501714615017135350171353Missense_MutationGAp.S858F
WM115_SKIN50171326501714615017135350171353Missense_MutationGAp.S858F
SNU1040_LARGE_INTESTINE50171326501714615017136850171368Missense_MutationTCp.E853G
MUTZ3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE50171326501714615017138350171383Missense_MutationCTp.R848Q
LS411N_LARGE_INTESTINE50171326501714615017138650171386Missense_MutationCTp.R847Q
A2780_OVARY50171326501714615017140150171401Missense_MutationCAp.R842M
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE50171326501714615017144750171447Missense_MutationAGp.F827L
MOLT3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE50171326501714615017145950171459Missense_MutationGAp.L823F
HPAFII_PANCREAS50181038501811705018108650181086Missense_MutationCTp.G806R
HPAFII_PANCREAS50181038501811425018108650181086Missense_MutationCTp.G806R
HPAFII_PANCREAS50181038501815355018108650181086Missense_MutationCTp.G806R
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE50181038501811705018108650181086Missense_MutationCTp.G806R
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE50181038501811425018108650181086Missense_MutationCTp.G806R
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE50181038501815355018108650181086Missense_MutationCTp.G806R
NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE50197852501980085019787550197875Missense_MutationGTp.Q501K
MFE296_ENDOMETRIUM50197852501980085019797350197973Missense_MutationCTp.R468Q
MOLT16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE50197852501980085019797350197973Missense_MutationCTp.R468Q
A253_SALIVARY_GLAND50197852501980085019798950197989Missense_MutationGCp.Q463E
PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE50216599502179795021663550216635Missense_MutationAGp.L444P
SNU1040_LARGE_INTESTINE50216599502179795021664250216642Missense_MutationCTp.A442T
HCC1569_BREAST50216599502179795021675550216755Missense_MutationAGp.V404A
RL952_ENDOMETRIUM50216599502179795021681950216819Missense_MutationCTp.A383T
CW2_LARGE_INTESTINE50216599502179795021688250216882Missense_MutationTCp.M362V
HEC108_ENDOMETRIUM50216599502179795021689750216897Missense_MutationTGp.K357Q
OC316_OVARY50216599502179795021694450216944Missense_MutationCTp.C341Y
OC314_OVARY50216599502179795021694450216944Missense_MutationCTp.C341Y
CCK81_LARGE_INTESTINE50216599502179795021696350216963Missense_MutationCTp.V335M
CW2_LARGE_INTESTINE50216599502179795021722350217223Missense_MutationAGp.V248A
LOVO_LARGE_INTESTINE50216599502179795021724550217245Missense_MutationCTp.V241M
CW2_LARGE_INTESTINE50216599502179795021725950217259Missense_MutationAGp.M236T
RKO_LARGE_INTESTINE50216599502179795021731750217317Missense_MutationAGp.C217R
JHUEM7_ENDOMETRIUM50216599502179795021732950217329Missense_MutationCTp.E213K
SNU1214_UPPER_AERODIGESTIVE_TRACT50216599502179795021748850217488Missense_MutationCTp.E160K
MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE50216599502179795021751550217515Missense_MutationCTp.D151N
NUGC2_STOMACH50216599502179795021759950217599Missense_MutationGAp.R123C
TC32_BONE50216599502179795021761350217613Missense_MutationGAp.P118L
TE15_OESOPHAGUS50216599502179795021762850217628Missense_MutationGAp.S113L
SNU5_STOMACH50216599502179795021766250217662Missense_MutationCTp.E102K
MC116_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE50216599502179795021766450217664Missense_MutationTGp.N101T
CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE50216599502179795021769550217695Missense_MutationGAp.R91C
SNU324_PANCREAS50216599502179795021776950217769Missense_MutationGAp.T66I
HCC2998_LARGE_INTESTINE50216599502179795021787250217872Missense_MutationTCp.T32A
EFE184_ENDOMETRIUM50216599502179795021789250217892Missense_MutationGAp.S25F
NCIH661_LUNG50216599502179795021791750217917Missense_MutationAGp.S17P
SKNDZ_AUTONOMIC_GANGLIA50197852501980085019786650197866Nonsense_MutationGAp.R504*
UMUC1_URINARY_TRACT50216599502179795021694850216948Nonsense_MutationGAp.Q340*
CTV1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE50216599502179795021731250217312Nonsense_MutationGTp.C218*

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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for BRD1

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 BRD1


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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for BRD1


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RelatedDrugs for BRD1

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 BRD1

check button Diseases associated with this gene.
(DisGeNet 4.0)
GeneDisease IDDisease name# pubmedsSource
BRD1C0036341Schizophrenia5PSYGENET
BRD1C0005586Bipolar Disorder4PSYGENET
BRD1C0010606Adenoid Cystic Carcinoma1CTD_human