BRD1

Summary

BRD1 (bromodomain containing 1, HGNC:1102) is a protein-coding gene on chromosome 22q13.33, encoding Bromodomain-containing protein 1 (O95696). Scaffold subunit of various histone acetyltransferase (HAT) complexes, such as the MOZ/MORF and HBO1 complexes, that acts as a regulator of hematopoiesis.

This gene encodes a bromodomain-containing protein that localizes to the nucleus and can interact with DNA and histone tails. The encoded protein is a component of the MOZ/MORF acetyltransferase complex and can stimulate acetylation of histones H3 and H4, thereby potentially playing a role in gene activation. Variation in this gene is associated with schizophrenia and bipolar disorder in some study populations. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 23774 — RefSeq curated summary.

At a glance

• GWAS associations: 9
• Clinical variants (ClinVar): 182 total — 1 pathogenic
• Druggable target: yes
• MANE Select transcript: NM_001304808

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1102
Approved symbol	BRD1
Name	bromodomain containing 1
Location	22q13.33
Locus type	gene with protein product
Status	Approved
Aliases	BRL, BRPF2
Ensembl gene	ENSG00000100425
Ensembl biotype	protein_coding
OMIM	604589
Entrez	23774

Gene structure

Transcript identifiers

Ensembl transcripts: 28 — 24 protein_coding, 2 protein_coding_CDS_not_defined, 1 nonsense_mediated_decay, 1 retained_intron

ENST00000216267, ENST00000404034, ENST00000404760, ENST00000438393, ENST00000457780, ENST00000459821, ENST00000479985, ENST00000494833, ENST00000896282, ENST00000896283, ENST00000935056, ENST00000935057, ENST00000935058, ENST00000935059, ENST00000935060, ENST00000935061, ENST00000935062, ENST00000935063, ENST00000935064, ENST00000935065, ENST00000943545, ENST00000943546, ENST00000943547, ENST00000943548, ENST00000943549, ENST00000943550, ENST00000943551, ENST00000943552

RefSeq mRNA: 10 — MANE Select: NM_001304808 NM_001304808, NM_001304809, NM_001349940, NM_001349941, NM_001349942, NM_001394548, NM_001394549, NM_001394550, NM_001394551, NM_001394552

CCDS: CCDS14080, CCDS77686

Canonical transcript exons

ENST00000404760 — 13 exons

Exon	Start	End
ENSE00000657453	49794034	49794294
ENSE00000657455	49797805	49798117
ENSE00000657457	49798558	49798686
ENSE00000657459	49798988	49799119
ENSE00001379297	49787390	49787887
ENSE00001548607	49822951	49824331
ENSE00002519693	49827497	49827873
ENSE00002520503	49804204	49804360
ENSE00003626249	49775591	49775745
ENSE00003671292	49773283	49774416
ENSE00003677041	49776050	49776159
ENSE00003717582	49777678	49777813
ENSE00003743625	49777034	49777161

Expression profiles

Bgee: expression breadth ubiquitous, 289 present calls, max score 95.56.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 21.4014 / max 212.9012, expressed in 1809 samples.

FANTOM5 promoters (3 alternative TSS)

Promoter ID	TPM avg	Samples expressed
194670	14.4301	1801
194669	6.4752	1731
194671	0.4961	271

Top tissues by expression

295 total, by Bgee expression score (0-100, higher = more expressed):

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	95.56	gold quality
secondary oocyte	CL:0000655	95.30	gold quality
paraflocculus	UBERON:0005351	94.14	gold quality
right hemisphere of cerebellum	UBERON:0014890	93.67	gold quality
cerebellar hemisphere	UBERON:0002245	93.63	gold quality
cerebellar cortex	UBERON:0002129	93.57	gold quality
thymus	UBERON:0002370	93.50	gold quality
cerebellum	UBERON:0002037	93.39	gold quality
cerebellar vermis	UBERON:0004720	93.17	gold quality
upper arm skin	UBERON:0004263	93.00	gold quality
sural nerve	UBERON:0015488	92.82	gold quality
right testis	UBERON:0004534	92.16	gold quality
left testis	UBERON:0004533	91.93	gold quality
skin of leg	UBERON:0001511	91.62	gold quality
testis	UBERON:0000473	91.29	gold quality
middle frontal gyrus	UBERON:0002702	90.88	gold quality
amniotic fluid	UBERON:0000173	90.86	gold quality
skin of abdomen	UBERON:0001416	90.86	gold quality
zone of skin	UBERON:0000014	90.83	gold quality
gingival epithelium	UBERON:0001949	90.74	gold quality
epithelium of nasopharynx	UBERON:0001951	90.66	gold quality
cortical plate	UBERON:0005343	90.54	gold quality
adult organism	UBERON:0007023	90.52	gold quality
nipple	UBERON:0002030	90.47	gold quality
left ovary	UBERON:0002119	90.21	gold quality
pylorus	UBERON:0001166	89.88	gold quality
muscle layer of sigmoid colon	UBERON:0035805	89.83	gold quality
ovary	UBERON:0000992	89.61	gold quality
hair follicle	UBERON:0002073	89.59	gold quality
embryo	UBERON:0000922	89.58	gold quality

Single-cell (SCXA)

Detected in 3 experiment(s), a significant marker in 3.

Experiment	Marker?	Max mean expression
E-CURD-7	yes	48.53
E-ENAD-21	yes	46.97
E-ANND-3	yes	5.14

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

5 targets.

Target	Regulation
PSMB2
UTP25
WDR7
ZC3H15
ZNF226

Upstream regulators (CollecTRI, top): SP1

Literature-anchored findings (GeneRIF, showing 16)

• BRD1 may have a role in schizophrenia and bipolar affective disorder (PMID:19693800)
• These results suggest a general role of BRD1 in the cell and stress that the two BRD1 variants may play different roles in the etiology of psychiatric disease. (PMID:19763615)
• The association of BRD1 with schizophrenia in a Japanese population, was analysed. (PMID:19908236)
• Recognition of unmodified histone H3 by the first PHD finger of bromodomain-PHD finger protein 2 provides insights into the regulation of histone acetyltransferases monocytic leukemic zinc-finger protein (MOZ) and MOZ-related factor (MORF). (PMID:21880731)
• The PHD finger of BRPF2 can potentially bind DNA non-specifically with an evolutionarily conserved and positively charged surface. (PMID:22820306)
• Findings show that BRD1 primarily binds in close proximity to transcription start sites and regulates expression of numerous genes, many of which are involved with brain development and susceptibility to mental disorders. (PMID:27142060)
• Reduced BRD1 expression is associated with Schizophrenia. (PMID:28095495)
• Structural and mechanistic insights into regulation of HBO1 histone acetyltransferase activity by BRPF2 have been presented. (PMID:28334966)
• TIMP-4, NT-proANP, NT-proBNP were strongest associated with PAF and AHRE. The discriminatory performance of CHADS2-VASc for PAF was increased by addition of selected biomarkers. (PMID:28431065)
• Results show that interaction of sulfatide with BRD1 induced acetylation and promoted integrin alpha V gene transcription in hepatocellular carcinoma cells. (PMID:29453316)
• There was no association between SNPs in the BRD1 and ZBED4 genes and schizophrenia in the Chinese population. (PMID:29794561)
• our data point to a cell type- and a stimulus-specific function of BRD1. Inhibiting BRD1 could have potential beneficial effects in rheumatoid arthritis via decreasing the proliferation of synovial fibroblasts. Anti-inflammatory effects were limited and only observed in monocyte-derived macrophages (PMID:30042400)
• Crystal structure of the BRPF2 PWWP domain in complex with DNA reveals a different binding mode than the HDGF family of PWWP domains. (PMID:33556623)
• HBO1 is a versatile histone acyltransferase critical for promoter histone acylations. (PMID:34259319)
• Expression Characteristics and Clinical Correlations of BRD1 in Colorectal Cancer Samples. (PMID:34482774)
• The psychiatric risk gene BRD1 modulates mitochondrial bioenergetics by transcriptional regulation. (PMID:35941107)

Cross-species orthologs

7 orthologs

Organism	Symbol	Gene ID
danio_rerio	brd1a	ENSDARG00000013596
danio_rerio	brd1b	ENSDARG00000051798
mus_musculus	Brd1	ENSMUSG00000022387
rattus_norvegicus	Brd1	ENSRNOG00000004538
drosophila_melanogaster	Br140	FBGN0033155
caenorhabditis_elegans		WBGENE00003034
caenorhabditis_elegans		WBGENE00021810

Paralogs (8): JADE2 (ENSG00000043143), JADE1 (ENSG00000077684), MLLT10 (ENSG00000078403), BRPF3 (ENSG00000096070), JADE3 (ENSG00000102221), PHF14 (ENSG00000106443), BRPF1 (ENSG00000156983), MLLT6 (ENSG00000275023)

Protein

Protein identifiers

Bromodomain-containing protein 1 — O95696 (reviewed: O95696)

Alternative names: BR140-like protein, Bromodomain and PHD finger-containing protein 2

All UniProt accessions (2): O95696, J3KQ61

UniProt curated annotations — full annotation on UniProt →

Function. Scaffold subunit of various histone acetyltransferase (HAT) complexes, such as the MOZ/MORF and HBO1 complexes, that acts as a regulator of hematopoiesis. Plays a key role in HBO1 complex by directing KAT7/HBO1 specificity towards histone H3 ‘Lys-14’ acetylation (H3K14ac), thereby promoting erythroid differentiation.

Subunit / interactions. Component of some HBO1 complex composed of KAT7/HBO1, MEAF6, ING4 and BRD1/BRPF2. Component of the MOZ/MORF complex composed at least of ING5, KAT6A, KAT6B, MEAF6 and one of BRPF1, BRD1/BRPF2 and BRPF3. Interacts (via PHD-type zinc finger domain) with unmodified histone H3. Interacts (via PWWP domain) with dimethylated and trimethylated ‘Lys-79’ on histone H3.

Subcellular location. Nucleus. Chromosome.

Tissue specificity. Highly expressed in testis.

Isoforms (2)

UniProt ID	Names	Canonical?
O95696-1	1	yes
O95696-2	2

RefSeq proteins (10): NP_001291737, NP_001291738, NP_001336869, NP_001336870, NP_001336871, NP_001381477, NP_001381478, NP_001381479, NP_001381480, NP_001381481 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR000313	PWWP_dom	Domain
IPR001487	Bromodomain	Domain
IPR001965	Znf_PHD	Domain
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR018359	Bromodomain_CS	Conserved_site
IPR019542	Enhancer_polycomb-like_N	Domain
IPR019786	Zinc_finger_PHD-type_CS	Conserved_site
IPR019787	Znf_PHD-finger	Domain
IPR034732	EPHD	Domain
IPR036427	Bromodomain-like_sf	Homologous_superfamily
IPR042004	BRPF2_ePHD	Domain
IPR042009	BRPF2_PHD	Domain
IPR050701	Histone_Mod_Regulator	Family

Pfam: PF00439, PF00855, PF10513, PF13831, PF13832

UniProt features (76 total): strand 23, helix 14, modified residue 9, region of interest 5, mutagenesis site 5, turn 5, sequence variant 4, zinc finger region 3, domain 2, compositionally biased region 2, cross-link 2, chain 1, splice variant 1

Structure

Experimental structures (PDB)

318 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
5FG6	X-RAY DIFFRACTION	1.1
5PQI	X-RAY DIFFRACTION	1.33
5PSJ	X-RAY DIFFRACTION	1.38
5PSK	X-RAY DIFFRACTION	1.38
5PSL	X-RAY DIFFRACTION	1.39
5PST	X-RAY DIFFRACTION	1.39
5PTM	X-RAY DIFFRACTION	1.41
5POU	X-RAY DIFFRACTION	1.43
5PSQ	X-RAY DIFFRACTION	1.43
5PT0	X-RAY DIFFRACTION	1.43
5PO5	X-RAY DIFFRACTION	1.44
5PPX	X-RAY DIFFRACTION	1.44
5PPW	X-RAY DIFFRACTION	1.45
5PPY	X-RAY DIFFRACTION	1.45
5PQC	X-RAY DIFFRACTION	1.45
5PRP	X-RAY DIFFRACTION	1.45
5PTS	X-RAY DIFFRACTION	1.45
5PO0	X-RAY DIFFRACTION	1.46
5PPE	X-RAY DIFFRACTION	1.46
5PTG	X-RAY DIFFRACTION	1.46
5PNX	X-RAY DIFFRACTION	1.47
5PQ2	X-RAY DIFFRACTION	1.47
5PT9	X-RAY DIFFRACTION	1.47
5PTN	X-RAY DIFFRACTION	1.47
5PTT	X-RAY DIFFRACTION	1.47
5POC	X-RAY DIFFRACTION	1.48
5PNY	X-RAY DIFFRACTION	1.48
5PPB	X-RAY DIFFRACTION	1.48
5PSN	X-RAY DIFFRACTION	1.48
5PTK	X-RAY DIFFRACTION	1.48

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-O95696-F1	72.54	0.40

Functional residue map

Curated UniProt residues grouped by drug-discovery relevance — catalytic, ligand-binding, modification, and mutation-validated positions. Source: UniProtKB sequence features.

Post-translational modifications (11): 128, 368, 516, 519, 803, 903, 1052, 1055, 554, 594, 906

Mutagenesis-validated functional residues (5):

Position	Phenotype
41–45	decreased interaction with free histones.
51	impaired interaction with kat7/hbo1.
57	impaired interaction with kat7/hbo1.
59	impaired interaction with kat7/hbo1.
62–64	decreased interaction with free histones.

Function

Pathways and Gene Ontology

Reactome pathways

9 pathways

ID	Pathway
R-HSA-3214847	HATs acetylate histones
R-HSA-6804758	Regulation of TP53 Activity through Acetylation
R-HSA-212436	Generic Transcription Pathway
R-HSA-3247509	Chromatin modifying enzymes
R-HSA-3700989	Transcriptional Regulation by TP53
R-HSA-4839726	Chromatin organization
R-HSA-5633007	Regulation of TP53 Activity
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)

MSigDB gene sets: 0 (showing top):

GO Biological Process (10): chromatin remodeling (GO:0006338), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), response to immobilization stress (GO:0035902), erythrocyte maturation (GO:0043249), positive regulation of erythrocyte differentiation (GO:0045648), regulation of developmental process (GO:0050793), response to electrical stimulus (GO:0051602), regulation of hemopoiesis (GO:1903706), chromatin organization (GO:0006325)

GO Molecular Function (9): zinc ion binding (GO:0008270), unmodified histone reader activity (GO:0140063), histone reader activity (GO:0140566), protein binding (GO:0005515), histone H3K14 acetyltransferase activity (GO:0036408), histone H4K5 acetyltransferase activity (GO:0043995), histone H4K8 acetyltransferase activity (GO:0043996), histone H4K12 acetyltransferase activity (GO:0043997), metal ion binding (GO:0046872)

GO Cellular Component (7): nucleus (GO:0005634), nuclear speck (GO:0016607), dendrite (GO:0030425), histone H3-K14 acetyltransferase complex (GO:0036409), perikaryon (GO:0043204), MOZ/MORF histone acetyltransferase complex (GO:0070776), chromosome (GO:0005694)

Reactome top-level categories

Rollup of top-7 pathways:

Category	Pathways
Chromatin modifying enzymes	1
Regulation of TP53 Activity	1
RNA Polymerase II Transcription	1
Chromatin organization	1
Generic Transcription Pathway	1
Transcriptional Regulation by TP53	1
Gene expression (Transcription)	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
histone H4 acetyltransferase activity	3
H3 histone acetyltransferase complex	2
chromatin organization	1
DNA-templated transcription	1
regulation of gene expression	1
regulation of RNA biosynthetic process	1
regulation of DNA-templated transcription	1
transcription by RNA polymerase II	1
response to stress	1
cell maturation	1
erythrocyte development	1
erythrocyte differentiation	1
positive regulation of myeloid cell differentiation	1
regulation of erythrocyte differentiation	1
developmental process	1
regulation of biological process	1
response to abiotic stimulus	1
regulation of immune system process	1
hemopoiesis	1
regulation of cell development	1
regulation of multicellular organismal development	1
cellular component organization	1
transition metal ion binding	1
histone reader activity	1
nucleosome	1
histone binding	1
chromatin-protein adaptor activity	1
binding	1
histone H3 acetyltransferase activity	1
cation binding	1
intracellular membrane-bounded organelle	1
nuclear ribonucleoprotein granule	1
neuron projection	1
dendritic tree	1
nuclear protein-containing complex	1
neuronal cell body	1
cellular anatomical structure	1
intracellular membraneless organelle	1

Protein interactions and networks

STRING

1882 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BRD1	KAT7	O95251	881
BRD1	ASXL2	Q76L83	843
BRD1	MEAF6	Q9HAF1	784
BRD1	H3-3A	P06351	747
BRD1	H3C1	P02295	747
BRD1	H3C14	Q71DI3	746
BRD1	H3-5	Q6NXT2	746
BRD1	H3-4	Q16695	746
BRD1	H3-7	Q5TEC6	746
BRD1	ING4	Q9UNL4	677
BRD1	JMJD1C	Q15652	649
BRD1	ADCY1	Q08828	640
BRD1	ASH1L	Q9NR48	632
BRD1	KAT6B	Q8WYB5	567
BRD1	BRD9	Q9H8M2	557

IntAct

72 interactions, top by confidence:

A	B	Type	Score
BRD1	MCC	psi-mi:“MI:0915”(physical association)	0.670
BRD1	MAGEA11	psi-mi:“MI:0915”(physical association)	0.560
BRD1	CEP70	psi-mi:“MI:0915”(physical association)	0.560
BRD1	DISC1	psi-mi:“MI:0915”(physical association)	0.560
BRD1	TFIP11	psi-mi:“MI:0915”(physical association)	0.560
BRD1	ZRANB1	psi-mi:“MI:0915”(physical association)	0.560
BRD1	HMBOX1	psi-mi:“MI:0915”(physical association)	0.560
BRD1	RUBCN	psi-mi:“MI:0915”(physical association)	0.560
BRD1	CASP8	psi-mi:“MI:0915”(physical association)	0.560
BRD1	PICK1	psi-mi:“MI:0915”(physical association)	0.560
ING4	KAT7	psi-mi:“MI:0914”(association)	0.530
BRD1	KAT7	psi-mi:“MI:0914”(association)	0.530
ING5	KAT7	psi-mi:“MI:0914”(association)	0.530
KAT7	BRD1	psi-mi:“MI:0914”(association)	0.530
MEAF6	ANKRD17	psi-mi:“MI:0914”(association)	0.530
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
BRD1	ATP5PD	psi-mi:“MI:0915”(physical association)	0.400
BRD1	SS18L1	psi-mi:“MI:0915”(physical association)	0.370
ZNF512B	BRD1	psi-mi:“MI:0915”(physical association)	0.370
Cbx1		psi-mi:“MI:0914”(association)	0.350
RPL10	RPS6	psi-mi:“MI:0914”(association)	0.350
Srp72		psi-mi:“MI:0914”(association)	0.350
Rrbp1	PIPSL	psi-mi:“MI:0914”(association)	0.350
YWHAG	C1orf226	psi-mi:“MI:0914”(association)	0.350
DYRK1A	TEX13D	psi-mi:“MI:0914”(association)	0.350
H2BC21	SMCHD1	psi-mi:“MI:0914”(association)	0.350
HMGN5	SMCHD1	psi-mi:“MI:0914”(association)	0.350
MAPRE1	SCAMP1	psi-mi:“MI:0914”(association)	0.350
NUMA1	SHANK3	psi-mi:“MI:0914”(association)	0.350

BioGRID (405): BRD1 (Affinity Capture-MS), BRD1 (Proximity Label-MS), BRD1 (Proximity Label-MS), BRD1 (Affinity Capture-MS), BRD1 (Affinity Capture-MS), BRD1 (Affinity Capture-MS), BRD1 (Affinity Capture-MS), BRD1 (Affinity Capture-MS), BRD1 (Affinity Capture-MS), BRD1 (Affinity Capture-MS), BRD1 (Affinity Capture-MS), BRD1 (Affinity Capture-MS), BRD1 (Affinity Capture-MS), BRD1 (Affinity Capture-MS), BRD1 (Affinity Capture-RNA)

ESM2 similar proteins: A0JMQ9, A1L1R5, A5PF44, A6QP16, B1H2Q2, B4HWV2, B4JE52, B4KKN5, B4LS82, B5E0H4, D3YWQ0, E7FEV0, F1MAB7, G5E8P1, M9PD06, O46080, O75912, O95696, O96838, P59438, Q10024, Q1L8G6, Q2NKQ1, Q3UGY8, Q3V0G7, Q4G017, Q5TH69, Q5U595, Q5VUJ5, Q5VVW2, Q5VW22, Q6NUB7, Q6P5D3, Q7M760, Q7ZUL9, Q80TM9, Q80U12, Q8AXQ3, Q8BPQ7, Q8K3Y6

Diamond homologs: A0A0R4IXF6, A0A7U2QYM2, A2AHJ4, A2AUY4, A2BIL7, B2RRD7, B7ZS37, D4A7T3, E9Q2Z1, F1QW93, F1R5H6, F7DRV9, G5E8P1, O15164, O60885, O74350, O88379, O88665, O95696, P13709, P21675, P25440, P35817, P51123, P53236, P54816, P55201, P87152, Q02206, Q03330, Q07442, Q08D75, Q09948, Q12830, Q15059, Q1LUC3, Q23590, Q32S26, Q338B9, Q4R8Y1

SIGNOR signaling

0 interactions.

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 58 IntAct physical interaction partners (hypergeometric vs the genome-wide background, BH-FDR, gene-set size 15–500, ranked by fold). A functional readout of the neighbourhood — distinct from this gene’s own memberships above, and biased toward well-studied / hub proteins, so read it as themes rather than proof.

Reactome pathways:

Pathway	Partners	Fold	FDR
Activation of BAD and translocation to mitochondria	6	130.5×	4e-10
Chk1/Chk2(Cds1) mediated inactivation of Cyclin B:Cdk1 complex	6	115.2×	5e-10
SARS-CoV-1 targets host intracellular signalling and regulatory pathways	6	115.2×	5e-10
Activation of BH3-only proteins	6	85.1×	2e-09
Intrinsic Pathway for Apoptosis	7	58.6×	1e-09
RHO GTPases activate PKNs	6	54.4×	3e-08
SARS-CoV-1-host interactions	8	40.2×	1e-09
Apoptosis	7	33.6×	3e-08

GO biological processes:

GO term	Partners	Fold	FDR
protein targeting	6	44.0×	2e-06
intracellular protein localization	7	14.7×	4e-05

Disease & clinical

Clinical variants and AI predictions

ClinVar

182 variants total. Per-class counts are floors (≥ shown; pagination cap):

Classification	Count (floor)
Pathogenic	1
Likely pathogenic	0
Uncertain significance	130
Likely benign	22
Benign	11

Top pathogenic / likely-pathogenic (1)

Variant ID	HGVS	Classification
146908	GRCh38/hg38 22q13.33(chr22:49199841-49787792)x3	Pathogenic

SpliceAI

2935 predictions. Top by Δscore:

Variant	Effect	Δscore
22:49774382:C:CT	acceptor_gain	1.0000
22:49774413:CTGC:C	acceptor_gain	1.0000
22:49774416:CCTTT:C	acceptor_gain	1.0000
22:49774418:T:C	acceptor_gain	1.0000
22:49774421:T:C	acceptor_gain	1.0000
22:49774421:T:TC	acceptor_gain	1.0000
22:49775590:CCAA:C	donor_gain	1.0000
22:49775631:T:TA	donor_gain	1.0000
22:49775741:ATGAT:A	acceptor_gain	1.0000
22:49775742:TGAT:T	acceptor_gain	1.0000
22:49775743:GAT:G	acceptor_gain	1.0000
22:49775744:AT:A	acceptor_gain	1.0000
22:49775744:ATC:A	acceptor_loss	1.0000
22:49775744:ATCTG:A	acceptor_gain	1.0000
22:49775745:TCTG:T	acceptor_loss	1.0000
22:49775746:C:CC	acceptor_gain	1.0000
22:49775746:CTGC:C	acceptor_loss	1.0000
22:49775747:T:A	acceptor_loss	1.0000
22:49775751:C:CT	acceptor_gain	1.0000
22:49775752:G:T	acceptor_gain	1.0000
22:49776044:A:AC	donor_gain	1.0000
22:49776045:C:CC	donor_gain	1.0000
22:49776048:A:AC	donor_gain	1.0000
22:49776048:AC:A	donor_gain	1.0000
22:49776049:C:CT	donor_gain	1.0000
22:49776049:CC:C	donor_gain	1.0000
22:49776157:CTT:C	acceptor_gain	1.0000
22:49776158:TT:T	acceptor_gain	1.0000
22:49776160:C:CC	acceptor_gain	1.0000
22:49776160:CT:C	acceptor_loss	1.0000

AlphaMissense

0 scored. Top likely-pathogenic:

dbSNP variants (sampled 300 via entrez): RS1000091307 (22:49800857 T>C), RS1000201675 (22:49821641 C>T), RS1000239854 (22:49783668 A>C), RS1000244750 (22:49820335 G>A), RS1000381274 (22:49825273 A>G), RS1000436963 (22:49784797 C>T), RS1000478848 (22:49817040 T>C), RS1000537539 (22:49822689 G>A), RS1000571835 (22:49789163 C>A), RS1000584383 (22:49789779 TG>T), RS1000612711 (22:49822550 A>T), RS1000640491 (22:49826647 G>C), RS1000696874 (22:49793519 A>T), RS1000720508 (22:49785975 T>C), RS1000766201 (22:49792381 G>A)

Disease associations

OMIM: gene MIM:604589 | disease phenotypes: MIM:607143

GenCC curated gene-disease

Mondo (1): ALG12-congenital disorder of glycosylation (MONDO:0011783)

Orphanet (1): ALG12-CDG (Orphanet:79324)

HPO phenotypes

0 total (0 of 0 shown, HPO-id order):

GWAS associations

9 associations (top):

Study	Trait	p-value
GCST000957_3	Natriuretic peptide levels	7.000000e-06
GCST001851_10	Schizophrenia	2.000000e-07
GCST002481_12	Acne (severe)	4.000000e-06
GCST004599_223	Mean platelet volume	4.000000e-10
GCST006629_44	Pulse pressure	4.000000e-10
GCST009391_1685	Metabolite levels	4.000000e-06
GCST010307_15	Urinary albumin excretion	7.000000e-09
GCST011011_78	Youthful appearance (self-reported)	4.000000e-13
GCST012489_86	Heel bone mineral density x serum urate levels interaction	7.000000e-09

EFO canonical traits (6, from GWAS)

EFO ID	Trait name
EFO:0004745	NT-proBNP measurement
EFO:0005763	pulse pressure measurement
EFO:0010343	cholesteryl ester 18:0 measurement
EFO:0004285	albuminuria
EFO:0004531	urate measurement
EFO:0009270	heel bone mineral density

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C535745	Congenital disorder of glycosylation type 1G (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL2176774 (SINGLE PROTEIN)

PharmGKB: 1 entry (VIP=true, CPIC=false)

GtoPdb / IUPHAR curated pharmacology

(IUPHAR/BPS Guide to Pharmacology — expert-curated)

Target class: enzyme — Bromodomain kinase (BRDK) family

Most potent curated ligand interactions (2 total), top 2:

Ligand	Action	Affinity	Parameter
BAY-299	Inhibition	8.22	pIC50
NI-57	Binding	6.97	pKd

Binding affinities (BindingDB)

3 measured of 3 human assays (3 total across all organisms); most potent 3 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value
4-cyano-N-(1,3-dimethyl-2-oxoquinolin-6-yl)-2-methoxybenzenesulfonamide	IC50	1010 nM
4-Bromo-N-(2,3-dihydro-6-methoxy-1,3-dimethyl-2-oxo-1H-benzimidazol-5-yl)-2-methyl-benzenesulfonamide	IC50	1200 nM
N-[2,3-Dihydro-1,3-dimethyl-2-oxo-6-(1-pyrrolidinyl)-1H-benzimidazol-5-yl]-2-methoxybenzamide	IC50	3520 nM

ChEMBL bioactivities

145 potent at pChembl≥5 of 156 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
8.22	IC50	6	nM	CHEMBL4086276
7.92	Kd	12	nM	CHEMBL3774575
7.92	Kd	12	nM	CHEMBL5715923
7.44	Kd	36	nM	CHEMBL4086276
7.43	IC50	37	nM	CHEMBL4075478
7.43	Kd	37	nM	CHEMBL4086276
7.35	Kd	44.64	nM	CHEMBL4086276
7.35	IC50	45	nM	CHEMBL4086276
7.34	IC50	46	nM	CHEMBL3752151
7.32	IC50	48	nM	CHEMBL4102050
7.29	IC50	51	nM	CHEMBL4086958
7.28	IC50	53	nM	CHEMBL4104538
7.21	IC50	62	nM	CHEMBL4086276
7.21	IC50	61	nM	CHEMBL4067968
7.20	IC50	63	nM	CHEMBL4076603
7.18	IC50	66	nM	CHEMBL4065133
7.17	IC50	67	nM	CHEMBL4086276
7.16	IC50	70	nM	CHEMBL4059651
7.13	IC50	74	nM	CHEMBL4086276
7.13	IC50	74	nM	CHEMBL4064164
7.10	IC50	80	nM	CHEMBL4103077
7.10	IC50	80	nM	CHEMBL4076067
7.09	IC50	82	nM	CHEMBL4068180
7.08	IC50	84	nM	CHEMBL4091912
7.03	IC50	93	nM	CHEMBL4072812
7.03	IC50	94	nM	CHEMBL4098824
7.02	IC50	95	nM	CHEMBL4092917
7.01	IC50	97	nM	CHEMBL4086276
7.00	IC50	100	nM	CHEMBL4059962
7.00	IC50	100	nM	CHEMBL4064292
6.99	IC50	102	nM	CHEMBL4077317
6.97	Kd	108	nM	CHEMBL3752151
6.96	Kd	110	nM	CHEMBL3752151
6.96	Ki	110	nM	CHEMBL4069412
6.94	IC50	115	nM	CHEMBL4080780
6.92	IC50	121	nM	CHEMBL4062266
6.91	IC50	124	nM	CHEMBL4081145
6.90	IC50	126	nM	CHEMBL4063112
6.90	Kd	125.9	nM	CHEMBL4449894
6.89	IC50	130	nM	CHEMBL4069814
6.89	IC50	127.6	nM	CHEMBL3770173
6.82	IC50	150	nM	CHEMBL4061727
6.82	IC50	150	nM	CHEMBL4064071
6.82	IC50	153	nM	CHEMBL4075962
6.72	IC50	190	nM	CHEMBL4087315
6.70	IC50	200	nM	CHEMBL4076056
6.68	Kd	210	nM	CHEMBL4102050
6.64	IC50	230	nM	CHEMBL4099455
6.61	IC50	248	nM	CHEMBL4099171
6.57	IC50	270	nM	CHEMBL4103432

PubChem BioAssay actives

124 with measured affinity, of 236 total; 50 most potent distinct compounds. Largely complementary to BindingDB; screening values are coarse (µM, 4 dp), so sub-nM hits tie at the floor.

Compound	Assay	Type	Value	Unit
6-(3-hydroxypropyl)-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1483497: Inhibition of recombinant human BRD1 (E556 to A688 residues) expressed in bacterial expression system by BROMOscan assay	ic50	0.0060	uM
N-[6-[3-[4-(dimethylamino)butoxy]-5-propoxyphenoxy]-1,3-dimethyl-2-oxobenzimidazol-5-yl]-3,4-dimethoxybenzenesulfonamide	1282164: Binding affinity to recombinant human BRPF2 expressed in bacterial system by bromoscan assay	kd	0.0120	uM
6-chloro-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.0370	uM
4-cyano-N-(1,3-dimethyl-2-oxoquinolin-6-yl)-2-methoxybenzenesulfonamide	1475725: Inhibition of human BRPF2 (556 to 688 residues) expressed in Escherichia coli BL21 after 1 hr by BROMOscan assay	ic50	0.0460	uM
4-cyano-N-(1,3-dimethyl-2-oxoquinolin-6-yl)benzenesulfonamide	1475725: Inhibition of human BRPF2 (556 to 688 residues) expressed in Escherichia coli BL21 after 1 hr by BROMOscan assay	ic50	0.0480	uM
6-bromo-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.0510	uM
6-(4-methoxypiperidin-1-yl)-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.0530	uM
6-morpholin-4-yl-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.0610	uM
5-amino-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.0630	uM
6-(4-hydroxypiperidin-1-yl)-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.0660	uM
6-(4-hydroxybutyl)-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.0700	uM
6-[4-[2-(dimethylamino)ethyl]piperazin-1-yl]-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.0740	uM
4-cyano-2-methoxy-N-(7-methoxy-1,3-dimethyl-2-oxoquinolin-6-yl)benzenesulfonamide	1475725: Inhibition of human BRPF2 (556 to 688 residues) expressed in Escherichia coli BL21 after 1 hr by BROMOscan assay	ic50	0.0800	uM
6-[4-(cyclopropylmethyl)piperazin-1-yl]-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.0800	uM
5-nitro-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.0820	uM
6-[methyl(2-pyrrolidin-1-ylethyl)amino]-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.0840	uM
6-(4-methylpiperazin-1-yl)-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.0930	uM
2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.0940	uM
6-piperidin-1-yl-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.0950	uM
4-cyano-N-(7-methoxy-1,3-dimethyl-2-oxoquinolin-6-yl)benzenesulfonamide	1475725: Inhibition of human BRPF2 (556 to 688 residues) expressed in Escherichia coli BL21 after 1 hr by BROMOscan assay	ic50	0.1000	uM
2-[6-(dimethylamino)-1,3-dimethyl-2-oxobenzimidazol-5-yl]benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.1000	uM
5-hydroxy-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.1020	uM
2-(6-methoxy-1,3-dimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.1150	uM
6-(propylamino)-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.1210	uM
5-bromo-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.1240	uM
N-[4-bromo-3-[(3S)-3-methylpyrrolidin-1-yl]sulfonylphenyl]-2-[(4S)-4-cyclopropyl-4-methyl-2,5-dioxoimidazolidin-1-yl]acetamide	1561908: Binding affinity to human partial length BRD1 (E556 to A688 residues) expressed in bacterial expression system by BROMOscan assay	kd	0.1259	uM
6-pyrrolidin-1-yl-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.1260	uM
N-(1,3-dimethyl-2-oxoquinolin-6-yl)-2-methoxybenzenesulfonamide	1475725: Inhibition of human BRPF2 (556 to 688 residues) expressed in Escherichia coli BL21 after 1 hr by BROMOscan assay	ic50	0.1300	uM
N-(4-cyanophenyl)-1-methyl-2-oxoquinoline-6-sulfonamide	1475725: Inhibition of human BRPF2 (556 to 688 residues) expressed in Escherichia coli BL21 after 1 hr by BROMOscan assay	ic50	0.1500	uM
4-cyano-N-(1,4-dimethyl-2-oxoquinolin-6-yl)benzenesulfonamide	1475725: Inhibition of human BRPF2 (556 to 688 residues) expressed in Escherichia coli BL21 after 1 hr by BROMOscan assay	ic50	0.1500	uM
2-(6-bromo-1,3-dimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.1530	uM
N-(7-methoxy-1,3-dimethyl-2-oxoquinolin-6-yl)benzenesulfonamide	1475725: Inhibition of human BRPF2 (556 to 688 residues) expressed in Escherichia coli BL21 after 1 hr by BROMOscan assay	ic50	0.1900	uM
4-cyano-N-(1-methyl-2-oxoquinolin-6-yl)benzenesulfonamide	1475725: Inhibition of human BRPF2 (556 to 688 residues) expressed in Escherichia coli BL21 after 1 hr by BROMOscan assay	ic50	0.2000	uM
3,4-dichloro-N-(1-methyl-2-oxoquinolin-6-yl)benzenesulfonamide	1483634: Inhibition of human BRPF2-BRD1 expressed in Escherichia coli BL21 after 1 hr by BROMOscan assay	ic50	0.2300	uM
1,3-dioxo-2-(1,3,6-trimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-5-carbonitrile	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.2480	uM
3-cyano-N-(1-methyl-2-oxoquinolin-6-yl)benzenesulfonamide	1475725: Inhibition of human BRPF2 (556 to 688 residues) expressed in Escherichia coli BL21 after 1 hr by BROMOscan assay	ic50	0.2700	uM
2-[1,3-dimethyl-6-(4-methylpiperazin-1-yl)-2-oxobenzimidazol-5-yl]benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.3660	uM
N-(7-methoxy-1-methyl-2-oxoquinolin-6-yl)benzenesulfonamide	1475725: Inhibition of human BRPF2 (556 to 688 residues) expressed in Escherichia coli BL21 after 1 hr by BROMOscan assay	ic50	0.3800	uM
8-[[(3R,4R)-3-[(1,1-dioxothian-4-yl)methoxy]-1-methylpiperidin-4-yl]amino]-3-methyl-5-(5-methyl-3-pyridinyl)-1H-1,7-naphthyridin-2-one	1234386: Binding affinity to BRPF2 (unknown origin) by BROMOscan panel based assay	ki	0.3981	uM
2-[2-[4-(5,7-dimethoxy-4-oxo-3H-quinazolin-2-yl)phenoxy]ethoxy]benzamide	1882330: Inhibition of BRD1 (unknown origin)	ic50	0.4400	uM
3-chloro-4-cyano-N-(1-methyl-2-oxoquinolin-6-yl)benzenesulfonamide	1483634: Inhibition of human BRPF2-BRD1 expressed in Escherichia coli BL21 after 1 hr by BROMOscan assay	ic50	0.4500	uM
2-(1,3-dimethyl-2-oxobenzimidazol-5-yl)benzo[de]isoquinoline-1,3-dione	1482417: Inhibition of human BRPF2 (563 to 688 residues) expressed in Escherichia coli BL21 (DE3)-R3-pRARE2 preincubated for 15 mins followed by addition of C-terminal biotinylated synthetic K5,12 diacetylated histone H4 (1 to 20 residues) peptide as substrate measured after 1 hr by TR-FRET assay	ic50	0.4500	uM
4-bromo-N-(6-methoxy-1,3-dimethyl-2-oxobenzimidazol-5-yl)-2-methylbenzenesulfonamide	1289207: Binding affinity to BRPF2 (unknown origin) by isothermal titration calorimetric analysis	kd	0.5000	uM
4-cyano-N-(8-fluoro-1,3-dimethyl-2-oxoquinolin-6-yl)-2-methoxybenzenesulfonamide	1475725: Inhibition of human BRPF2 (556 to 688 residues) expressed in Escherichia coli BL21 after 1 hr by BROMOscan assay	ic50	0.5100	uM
4-cyano-N-(7-methoxy-1-methyl-2-oxoquinolin-6-yl)benzenesulfonamide	1475725: Inhibition of human BRPF2 (556 to 688 residues) expressed in Escherichia coli BL21 after 1 hr by BROMOscan assay	ic50	0.5200	uM
N-(1,3-dimethyl-2-oxo-6-pyrrolidin-1-ylbenzimidazol-5-yl)-2-methoxybenzamide	2198576: Binding affinity to BRPF2 (unknown origin) assessed as dissociation constant at 25 uM by Isothermal titration calorimetry	kd	0.7750	uM
3,4-dimethoxy-N-[6-(4-methoxyphenoxy)-1,3-dimethyl-2-oxobenzimidazol-5-yl]benzenesulfonamide	1279918: Binding affinity to BRPF2 BRD1 (unknown origin) by isothermal titration calorimetry	kd	1.1300	uM
N-(1,3-dimethyl-2-oxo-6-phenoxybenzimidazol-5-yl)-3,4-dimethoxybenzenesulfonamide	1279915: Inhibition of BRPF2 BRD1 (unknown origin) by Alpha Screen assay	ic50	1.2100	uM
N-(1,3-dimethyl-2-oxo-6-phenoxybenzimidazol-5-yl)-4-methoxybenzenesulfonamide	1279915: Inhibition of BRPF2 BRD1 (unknown origin) by Alpha Screen assay	ic50	1.3300	uM
N-(1-methyl-2-oxoquinolin-6-yl)benzenesulfonamide	1475725: Inhibition of human BRPF2 (556 to 688 residues) expressed in Escherichia coli BL21 after 1 hr by BROMOscan assay	ic50	1.4000	uM

CTD chemical–gene interactions

43 total (human), top 30 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects expression, affects cotreatment	6
Cyclosporine	increases expression, decreases methylation	3
sodium arsenite	increases abundance, affects acetylation, affects methylation, decreases expression	2
Arsenic	affects methylation, decreases expression, increases abundance	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
triphenyl phosphate	affects expression	1
alpha-pinene	affects cotreatment, decreases expression, increases abundance	1
bisphenol A	increases expression	1
arsenite	affects binding, decreases reaction	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
potassium chromate(VI)	increases expression, affects cotreatment	1
coumarin	decreases phosphorylation	1
methacrylaldehyde	decreases expression, increases abundance, affects cotreatment	1
N,N,N’,N’-tetrakis(2-pyridylmethyl)ethylenediamine	decreases expression	1
epigallocatechin gallate	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
CGP 52608	affects binding, increases reaction	1
2-palmitoylglycerol	increases expression	1
monomethylarsonous acid	affects acetylation, affects methylation	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
abrine	increases expression	1
dorsomorphin	decreases expression, affects cotreatment	1
jinfukang	affects cotreatment, decreases expression	1
(+)-JQ1 compound	affects binding	1
Sunitinib	increases expression	1
Acrolein	affects cotreatment, decreases expression, increases abundance	1
Air Pollutants	affects cotreatment, decreases expression, increases abundance	1
Benzo(a)pyrene	increases methylation	1

ChEMBL screening assays

121 unique, capped per target: 118 binding, 3 functional

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL2186999	Binding	Inhibition of His6FLAG-tagged BRD1 expressed in Escherichia coli assessed as change in melting temperature at 100 uM by thermal shift assay	Fragment-based discovery of bromodomain inhibitors part 2: optimization of phenylisoxazole sulfonamides. — J Med Chem
CHEMBL5210065	Functional	Affinity Phenotypic Cellular interaction (AlamarBlue assay (cell viability in MOLM-13 cell line)) EUB0000191c BRD1	Affinity Phenotypic Cellular Literature for EUbOPEN Chemogenomics Library wave 3

Cellosaurus cell lines

9 cell lines: 9 cancer cell line

First 10 cell lines (id-ordered, not curated):

Cellosaurus	Name	Category	Sex
CVCL_2743	UM-UC-1	Cancer cell line	Male
CVCL_B7W7	Abcam Raji BRD1 KO	Cancer cell line	Male
CVCL_B9WQ	Abcam THP-1 BRD1 KO	Cancer cell line	Male
CVCL_C6YR	Abcam PC-3 BRD1 KO	Cancer cell line	Male
CVCL_SF52	HAP1 BRD1 (-) 1	Cancer cell line	Male
CVCL_XM08	HAP1 BRD1 (-) 2	Cancer cell line	Male
CVCL_XM09	HAP1 BRD1 (-) 3	Cancer cell line	Male
CVCL_XM10	HAP1 BRD1 (-) 4	Cancer cell line	Male
CVCL_XM11	HAP1 BRD1 (-) 5	Cancer cell line	Male

Clinical trials (associated diseases)

0 trials via MONDO — disease-level, not drug-specific.