BRDT

Summary

BRDT (bromodomain testis associated, HGNC:1105) is a protein-coding gene on chromosome 1p22.1, encoding Bromodomain testis-specific protein (Q58F21). Testis-specific chromatin protein that specifically binds histone H4 acetylated at ‘Lys-5’ and ‘Lys-8’ (H4K5ac and H4K8ac, respectively) and plays a key role in spermatogenesis.

BRDT is similar to the RING3 protein family. It possesses 2 bromodomain motifs and a PEST sequence (a cluster of proline, glutamic acid, serine, and threonine residues), characteristic of proteins that undergo rapid intracellular degradation. The bromodomain is found in proteins that regulate transcription. Several transcript variants encoding multiple isoforms have been found for this gene.

Source: NCBI Gene 676 — RefSeq curated summary.

At a glance

• Gene–disease (curated): spermatogenic failure 21 (Limited, GenCC)
• GWAS associations: 3
• Clinical variants (ClinVar): 131 total — 2 pathogenic, 1 likely-pathogenic
• Phenotypes (HPO): 5
• Druggable target: yes — 12 molecules with ChEMBL bioactivity
• MANE Select transcript: NM_207189

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:1105
Approved symbol	BRDT
Name	bromodomain testis associated
Location	1p22.1
Locus type	gene with protein product
Status	Approved
Aliases	BRD6, CT9, BRDt
Ensembl gene	ENSG00000137948
Ensembl biotype	protein_coding
OMIM	602144
Entrez	676

Gene structure

Transcript identifiers

Ensembl transcripts: 24 — 20 protein_coding, 4 protein_coding_CDS_not_defined

ENST00000355011, ENST00000362005, ENST00000370389, ENST00000394530, ENST00000399546, ENST00000402388, ENST00000423434, ENST00000426141, ENST00000427104, ENST00000440509, ENST00000448194, ENST00000449584, ENST00000450792, ENST00000457265, ENST00000461218, ENST00000470955, ENST00000476711, ENST00000484781, ENST00000484833, ENST00000548992, ENST00000552654, ENST00000680091, ENST00000680194, ENST00000680541

RefSeq mRNA: 7 — MANE Select: NM_207189 NM_001242805, NM_001242806, NM_001242807, NM_001242808, NM_001242810, NM_001726, NM_207189

CCDS: CCDS55615, CCDS55616, CCDS735

Canonical transcript exons

ENST00000399546 — 19 exons

Exon	Start	End
ENSE00000932110	91979569	91979757
ENSE00000932111	91980643	91980815
ENSE00000932112	91980889	91981178
ENSE00000932113	91981268	91981381
ENSE00001067500	91977043	91977393
ENSE00001124441	92014206	92014421
ENSE00001124445	92005119	92005299
ENSE00001124451	92004414	92004619
ENSE00001124459	92002049	92002149
ENSE00001124466	91994083	91994254
ENSE00001124472	91992264	91992314
ENSE00001124480	91991184	91991245
ENSE00001124487	91981618	91981755
ENSE00001124533	91976266	91976438
ENSE00001124540	91968146	91968260
ENSE00001124551	91962718	91962946
ENSE00001672793	91949401	91949682
ENSE00003485056	91978168	91978296
ENSE00003567605	91964627	91964764

Expression profiles

Bgee: expression breadth ubiquitous, 116 present calls, max score 95.38.

FANTOM5 (CAGE): breadth tissue_specific, TPM avg 0.4588 / max 174.9099, expressed in 18 samples.

FANTOM5 promoters (6 alternative TSS)

Promoter ID	TPM avg	Samples expressed
4017	0.3247	16
4018	0.0538	3
4019	0.0502	5
4021	0.0148	3
4020	0.0083	2
4016	0.0070	3

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
left testis	UBERON:0004533	95.38	gold quality
right testis	UBERON:0004534	95.19	gold quality
testis	UBERON:0000473	92.88	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	88.09	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.93	gold quality
sperm	CL:0000019	87.62	gold quality
male germ cell	CL:0000015	87.41	gold quality
buccal mucosa cell	CL:0002336	78.10	silver quality
adult organism	UBERON:0007023	72.17	silver quality
secondary oocyte	CL:0000655	71.57	gold quality
endometrium epithelium	UBERON:0004811	59.91	gold quality
decidua	UBERON:0002450	56.55	gold quality
oocyte	CL:0000023	56.28	gold quality
paraflocculus	UBERON:0005351	55.09	silver quality
placenta	UBERON:0001987	54.51	gold quality
hair follicle	UBERON:0002073	52.43	gold quality
frontal pole	UBERON:0002795	50.41	gold quality
middle frontal gyrus	UBERON:0002702	50.30	silver quality
granulocyte	CL:0000094	50.20	silver quality
Brodmann (1909) area 10	UBERON:0013541	50.18	gold quality
vastus lateralis	UBERON:0001379	49.64	gold quality
Brodmann (1909) area 46	UBERON:0006483	49.30	gold quality
blood vessel layer	UBERON:0004797	49.29	gold quality
cerebellar vermis	UBERON:0004720	49.25	gold quality
cervix squamous epithelium	UBERON:0006922	49.20	gold quality
thymus	UBERON:0002370	49.09	gold quality
olfactory bulb	UBERON:0002264	48.92	gold quality
choroid plexus epithelium	UBERON:0003911	48.89	gold quality
myocardium	UBERON:0002349	48.87	gold quality
type B pancreatic cell	CL:0000169	48.83	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-6819	yes	159.45
E-GEOD-134144	yes	32.77
E-ANND-3	yes	5.49

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

18 targeting BRDT, top 30 by miRDB confidence (max_score; target_count = how many genes the miRNA targets in total — lower means more specific):

miRNA	Max score	Avg score	miRNA target_count
HSA-MIR-4775	99.98	75.00	6394
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-1250-3P	99.96	70.04	4038
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-153-5P	99.89	73.86	6317
HSA-MIR-548AZ-3P	99.82	70.56	3549
HSA-MIR-2681-5P	99.75	67.64	1655
HSA-MIR-4766-5P	99.75	69.23	2662
HSA-MIR-7856-5P	99.75	69.99	2901
HSA-MIR-586	99.65	70.40	2051
HSA-MIR-452-5P	99.65	69.63	1762
HSA-MIR-4676-3P	99.65	69.31	1733
HSA-MIR-892C-3P	99.65	69.38	1745
HSA-MIR-548G-3P	99.48	68.67	2159
HSA-MIR-4274	98.59	66.10	630
HSA-MIR-509-3P	98.12	67.25	612
HSA-MIR-2278	97.30	66.19	1130
HSA-MIR-8069	97.05	66.79	718

Literature-anchored findings (GeneRIF, showing 11)

• BRDT-NY gene is an alternatively spliced variant that may have an important role in the process of spermatogenesis and may be correlated with male infertility (PMID:15647849)
• Suggest that reduced histone methylation in the promoter of BRDT may be associated with increased transcript levels in subfertile patients. (PMID:20538714)
• In human, BRDT is the only BET gene expressed exclusively in testicular germ cells. (PMID:22035730)
• assessment of rs3088232 frequency in large group of non-obstructive azoospermia men and fertile controls demonstrated no significant difference between them; conclude that testicular impairments observed were not a consequence of BRDT gene mutation (PMID:24865796)
• considered potential associations of 14 single nucleotide polymorphisms (SNPs) in RNF8 and BRDT genes in Chinese patients with non-obstructive azoospermia (PMID:25374327)
• The affected patient carries a homozygous bromodomain, testis-specific protein (BRDT) mutation, while the patient’s father, mother and elder brother all carry heterozygous BRDT mutations. (PMID:28199965)
• The bromodomain and extraterminal domain (BET) family consists of BRDT, BRD2, BRD3, and BRD4, each containing 2 bromodomains located N-terminal to extraterminal domain, which is located near C-terminus. Data suggest that 10 distinct acylations participate in binding of BET family proteins to histone 4 (oligopeptide fragments used here); C-terminal bromodomains do not cooperatively bind multiple acylation sites. (PMID:28945351)
• FBP1 modulates the sensitivity of pancreatic cancer cells to BET inhibitors by decreasing the expression of c-Myc. These findings highlight FBP1 could be used as a therapeutic niche for patient-tailored therapies (PMID:30201002)
• BRDT is a novel regulator of eIF4EBP1 in renal cell carcinoma. (PMID:33125143)
• Discovery and characterization of bromodomain 2-specific inhibitors of BRDT. (PMID:33637650)
• Bromodomain protein BRDT directs DeltaNp63 function and super-enhancer activity in a subset of esophageal squamous cell carcinomas. (PMID:33658703)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
mus_musculus	Brdt	ENSMUSG00000029279
rattus_norvegicus	Brdt	ENSRNOG00000002073
drosophila_melanogaster	Acf	FBGN0027620
caenorhabditis_elegans		WBGENE00001470

Paralogs (11): BAZ1B (ENSG00000009954), BAZ2A (ENSG00000076108), CECR2 (ENSG00000099954), KAT2A (ENSG00000108773), KAT2B (ENSG00000114166), BAZ2B (ENSG00000123636), BRD4 (ENSG00000141867), BRD3 (ENSG00000169925), BPTF (ENSG00000171634), BAZ1A (ENSG00000198604), BRD2 (ENSG00000204256)

Protein

Protein identifiers

Bromodomain testis-specific protein — Q58F21 (reviewed: Q58F21)

Alternative names: Cancer/testis antigen 9, RING3-like protein

All UniProt accessions (16): A0A7P0T8B0, A0A7P0TAQ7, A0A7P0TAR6, A0A7P0TB14, C9J0Z0, C9J1F7, C9J3A0, C9JD82, C9JDL5, C9JJU3, C9JLZ2, C9JMP1, C9JQ27, Q58F21, F8VZ63, F8W0H2

UniProt curated annotations — full annotation on UniProt →

Function. Testis-specific chromatin protein that specifically binds histone H4 acetylated at ‘Lys-5’ and ‘Lys-8’ (H4K5ac and H4K8ac, respectively) and plays a key role in spermatogenesis. Required in late pachytene spermatocytes: plays a role in meiotic and post-meiotic cells by binding to acetylated histones at the promoter of specific meiotic and post-meiotic genes, facilitating their activation at the appropriate time. In the post-meiotic phase of spermatogenesis, binds to hyperacetylated histones and participates in their general removal from DNA. Also recognizes and binds a subset of butyrylated histones: able to bind histone H4 butyrylated at ‘Lys-8’ (H4K8ac), while it is not able to bind H4 butyrylated at ‘Lys-5’ (H4K5ac). Also acts as a component of the splicing machinery in pachytene spermatocytes and round spermatids and participates in 3’-UTR truncation of specific mRNAs in post-meiotic spermatids. Required for chromocenter organization, a structure comprised of peri-centromeric heterochromatin.

Subunit / interactions. Interacts with mRNA splicing machinery proteins SRSF2, DDX5, HNRNPK and TARDBP. Interacts with the acetylated N-terminus of histone H1, H2, H3 and H4. Interacts with P-TEFb components CDK9 and CCNT1/cyclin-T1. Interacts with SMARCE1. Interacts with the acetylated N-terminus of histone H1.4, H2A, H2B, H3 and H4.

Subcellular location. Nucleus.

Tissue specificity. Testis-specific. A 3-fold higher expression is seen in adult testis than in embryo testis. Expression seems to be correlated with histone H4 hyperacetylation during the haploid phase of spermatogenesis (spermiogenesis). No expression, or very low expression is seen in patients’ testes with abnormal spermatogenesis. Expressed in cancers such as non-small cell lung cancer and squamous cell carcinomas of the head and neck as well as of esophagus, but not in melanoma or in cancers of the colon, breast, kidney and bladder.

Post-translational modifications. Ubiquitinated in a SPOP-dependent manner, leading to proteasomal degradation.

Disease relevance. Spermatogenic failure 21 (SPGF21) [MIM:617644] An infertility disorder caused by spermatogenesis defects and characterized by acephalic spermatozoa in the semen of affected individuals. SPGF21 inheritance is autosomal recessive. The disease is caused by variants affecting the gene represented in this entry.

Domain organisation. Bromo domains mediate interaction with histones that have acetylated lysine residues at specific positions. Bromo domain 1 mediates binding with histone H4 acetylated at ‘Lys-5’ and ‘Lys-8’ (H4K5ac and H4K8ac, respectively). The bromo domains also recognize and bind a subset of butyrylated histones: able to bind histone H4 butyrylated at ‘Lys-8’ (H4K8ac), while it is not able to bind H4 butyrylated at ‘Lys-5’ (H4K5ac).

Miscellaneous. BRDT is a promising target for male contraception. Inhibition by thienodiazepine inhibitor (+)-JQ1 that binds Asn-109, prevents recognition of acetylated histone H4, causing a complete and reversible contraceptive effect in male mice.

Similarity. Belongs to the BET family.

Isoforms (5)

UniProt ID	Names	Canonical?
Q58F21-1	1	yes
Q58F21-2	2, BRDT-NY
Q58F21-3	3
Q58F21-4	4
Q58F21-5	5

RefSeq proteins (7): NP_001229734, NP_001229735, NP_001229736, NP_001229737, NP_001229739, NP_001717, NP_997072* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001487	Bromodomain	Domain
IPR018359	Bromodomain_CS	Conserved_site
IPR027353	NET_dom	Domain
IPR031354	BRD4_CDT	Domain
IPR036427	Bromodomain-like_sf	Homologous_superfamily
IPR038336	NET_sf	Homologous_superfamily
IPR043508	Bromo_Brdt_I	Domain
IPR043509	Bromo_Brdt_II	Domain
IPR050935	Bromo_chromatin_reader	Family

Pfam: PF00439, PF17035, PF17105

UniProt features (70 total): helix 16, sequence variant 13, sequence conflict 11, compositionally biased region 7, region of interest 5, splice variant 4, domain 3, coiled-coil region 2, site 2, strand 2, chain 1, short sequence motif 1, binding site 1, modified residue 1, turn 1

Structure

Experimental structures (PDB)

21 structures.

PDB	Method	Resolution (Å)
7MRD	X-RAY DIFFRACTION	1.39
7L73	X-RAY DIFFRACTION	1.46
8YHS	X-RAY DIFFRACTION	1.5
7UUU	X-RAY DIFFRACTION	1.52
7MRC	X-RAY DIFFRACTION	1.55
5VBQ	X-RAY DIFFRACTION	1.65
7LEJ	X-RAY DIFFRACTION	1.73
7UBO	X-RAY DIFFRACTION	1.82
7LEM	X-RAY DIFFRACTION	1.89
5VBR	X-RAY DIFFRACTION	1.9
7L99	X-RAY DIFFRACTION	1.9
7MRH	X-RAY DIFFRACTION	1.98
7MRG	X-RAY DIFFRACTION	1.99
4KCX	X-RAY DIFFRACTION	2
2RFJ	X-RAY DIFFRACTION	2.05
7LEL	X-RAY DIFFRACTION	2.15
7BJY	X-RAY DIFFRACTION	2.22
4FLP	X-RAY DIFFRACTION	2.23
7L9A	X-RAY DIFFRACTION	2.27
7LEK	X-RAY DIFFRACTION	2.75
8CZA	X-RAY DIFFRACTION	2.96

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q58F21-F1	63.40	0.27

Functional residue map

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

Catalytic / active sites (2): 109 (histone h4k5ac binding); 114 (histone h4k5ac binding)

Ligand- & substrate-binding residues (1): 109

Post-translational modifications (1): 187

Function

Pathways and Gene Ontology

Reactome pathways

0 pathways

MSigDB gene sets: 159 (showing top): MAZ_Q6, GAUSSMANN_MLL_AF4_FUSION_TARGETS_C_UP, GOBP_MALE_GAMETE_GENERATION, GOBP_ORGANELLE_FISSION, FOSTER_TOLERANT_MACROPHAGE_DN, BOYLAN_MULTIPLE_MYELOMA_D_CLUSTER_DN, GOBP_NUCLEUS_ORGANIZATION, USF_01, GOBP_RNA_SPLICING, GOBP_MALE_MEIOSIS_I, GOBP_CELLULAR_PROCESS_INVOLVED_IN_REPRODUCTION_IN_MULTICELLULAR_ORGANISM, GOBP_SPERMATID_NUCLEUS_DIFFERENTIATION, MORF_EPHA7, MORF_RAB3A, MAF_Q6

GO Biological Process (15): chromatin remodeling (GO:0006338), regulation of DNA-templated transcription (GO:0006355), regulation of transcription by RNA polymerase II (GO:0006357), mRNA processing (GO:0006397), male meiotic nuclear division (GO:0007140), male meiosis I (GO:0007141), RNA splicing (GO:0008380), positive regulation of gene expression (GO:0010628), sperm DNA condensation (GO:0035092), regulation of RNA splicing (GO:0043484), chromatin organization (GO:0006325), spermatogenesis (GO:0007283), cell differentiation (GO:0030154), positive regulation of DNA-templated transcription (GO:0045893), meiotic cell cycle (GO:0051321)

GO Molecular Function (7): chromatin binding (GO:0003682), transcription coactivator activity (GO:0003713), protein serine/threonine kinase activity (GO:0004674), histone binding (GO:0042393), histone H4 reader activity (GO:0140008), protein binding (GO:0005515), protein-macromolecule adaptor activity (GO:0030674)

GO Cellular Component (2): chromatin (GO:0000785), nucleus (GO:0005634)

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
regulation of gene expression	3
male gamete generation	3
chromatin organization	2
DNA-templated transcription	2
regulation of DNA-templated transcription	2
RNA processing	2
meiotic cell cycle	2
meiotic nuclear division	2
binding	2
protein binding	2
regulation of RNA biosynthetic process	1
transcription by RNA polymerase II	1
mRNA metabolic process	1
meiosis I	1
male meiotic nuclear division	1
gene expression	1
positive regulation of macromolecule biosynthetic process	1
spermatid nucleus differentiation	1
RNA splicing	1
regulation of primary metabolic process	1
cellular component organization	1
developmental process involved in reproduction	1
cellular developmental process	1
positive regulation of RNA biosynthetic process	1
cell cycle	1
sexual reproduction	1
reproductive process	1
transcription coregulator activity	1
positive regulation of DNA-templated transcription	1
protein kinase activity	1
histone reader activity	1
molecular adaptor activity	1
chromosome	1
cellular anatomical structure	1
intracellular membrane-bounded organelle	1

Protein interactions and networks

STRING

1494 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BRDT	H4C7	Q99525	986
BRDT	H4C16	P02304	985
BRDT	DEFB1	P60022	930
BRDT	BRD3	Q15059	913
BRDT	BRD2	P25440	907
BRDT	BRD4	O60885	874
BRDT	CDK9	P50750	821
BRDT	CCNT1	O60563	818
BRDT	AASDHPPT	Q9NRN7	682
BRDT	NUTM1	Q86Y26	676
BRDT	H3-3A	P06351	655
BRDT	H3C14	Q71DI3	655
BRDT	H3-5	Q6NXT2	655
BRDT	H3C1	P02295	655
BRDT	H3-4	Q16695	655
BRDT	H3-7	Q5TEC6	655

IntAct

3 interactions, top by confidence:

A	B	Type	Score
PB2		psi-mi:“MI:0914”(association)	0.350
VAV2	BRDT	psi-mi:“MI:0915”(physical association)	0.000

BioGRID (81): BRDT (Affinity Capture-MS), BRDT (Affinity Capture-MS), BRDT (Two-hybrid), BRDT (Affinity Capture-MS), BRDT (Affinity Capture-MS), BRDT (Affinity Capture-MS), ACTL6A (Affinity Capture-MS), BANF1 (Affinity Capture-MS), CCNT1 (Affinity Capture-MS), CCNT2 (Affinity Capture-MS), CDK9 (Affinity Capture-MS), CHD8 (Affinity Capture-MS), NELFB (Affinity Capture-MS), CSNK2A2 (Affinity Capture-MS), CSNK2B (Affinity Capture-MS)

ESM2 similar proteins: A1YF22, A1YG99, A2T771, A2T7S4, B3DJM5, D3ZKB9, H2L008, O42410, O73590, P34303, P70121, Q03112, Q15652, Q15723, Q19418, Q21502, Q24478, Q2HNT1, Q2HNT2, Q2TB10, Q3UG20, Q58F21, Q5DTH5, Q5R7F2, Q5RCU4, Q61SK8, Q63HK5, Q66J63, Q69ZW3, Q6GN21, Q6P2L6, Q6ZSZ6, Q80VX4, Q86MI0, Q86T24, Q86UP3, Q8BN78, Q8C0C0, Q8CGV9, Q8IZD2

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

3 interactions.

A	Effect	B	Mechanism
BRDT	“up-regulates quantity”	EIF4EBP1	binding
H4C1	“up-regulates activity”	BRDT	relocalization
JQ1	“down-regulates activity”	BRDT	“chemical inhibition”

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	2
Likely pathogenic	1
Uncertain significance	110
Likely benign	9
Benign	1

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
929738	NM_207189.4(BRDT):c.1538del (p.Asp513fs)	Pathogenic
981207	GRCh37/hg19 1p22.1(chr1:92405898-94018197)x1	Pathogenic
4845756	NM_207189.4(BRDT):c.2383C>T (p.Gln795Ter)	Likely pathogenic

SpliceAI

2991 predictions. Top by Δscore:

Variant	Effect	Δscore
1:91968140:TTGTA:T	acceptor_loss	1.0000
1:91968141:TGTAG:T	acceptor_loss	1.0000
1:91968142:GTAGC:G	acceptor_loss	1.0000
1:91968143:TAGC:T	acceptor_loss	1.0000
1:91968144:A:AG	acceptor_gain	1.0000
1:91968144:AGCCT:A	acceptor_gain	1.0000
1:91968145:G:GA	acceptor_gain	1.0000
1:91968145:GC:G	acceptor_gain	1.0000
1:91968145:GCCT:G	acceptor_gain	1.0000
1:91968145:GCCTG:G	acceptor_gain	1.0000
1:91968246:A:T	donor_gain	1.0000
1:91976256:A:AG	acceptor_gain	1.0000
1:91976261:TCCA:T	acceptor_loss	1.0000
1:91976262:CCA:C	acceptor_loss	1.0000
1:91976263:CA:C	acceptor_loss	1.0000
1:91976264:A:AG	acceptor_gain	1.0000
1:91976264:AG:A	acceptor_gain	1.0000
1:91976265:G:GA	acceptor_gain	1.0000
1:91976265:G:GC	acceptor_loss	1.0000
1:91976265:GG:G	acceptor_gain	1.0000
1:91976265:GGC:G	acceptor_gain	1.0000
1:91976265:GGCA:G	acceptor_gain	1.0000
1:91976265:GGCAC:G	acceptor_gain	1.0000
1:91976434:CCCAA:C	donor_gain	1.0000
1:91976435:CCAA:C	donor_gain	1.0000
1:91976436:CAA:C	donor_gain	1.0000
1:91976437:AA:A	donor_gain	1.0000
1:91976437:AAGT:A	donor_loss	1.0000
1:91976438:AG:A	donor_loss	1.0000
1:91976439:G:GG	donor_gain	1.0000

AlphaMissense

6342 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
1:92004441:T:A	W806R	0.994
1:92004441:T:C	W806R	0.994
1:91964679:G:C	R82P	0.993
1:92004510:T:C	F829L	0.993
1:92004512:T:A	F829L	0.993
1:92004512:T:G	F829L	0.993
1:92004522:G:C	A833P	0.993
1:91964678:C:A	R82S	0.991
1:91978292:T:C	L365P	0.990
1:91980981:T:C	L518S	0.990
1:92004511:T:C	F829S	0.990
1:91962908:T:C	F52L	0.989
1:91962910:T:A	F52L	0.989
1:91962910:T:G	F52L	0.989
1:91968180:T:C	L122P	0.989
1:91978208:T:C	F337S	0.989
1:92004443:G:C	W806C	0.989
1:92004443:G:T	W806C	0.989
1:92004523:C:A	A833D	0.988
1:92005287:G:C	R921S	0.988
1:92005287:G:T	R921S	0.988
1:91962909:T:C	F52S	0.987
1:91962858:T:C	L35P	0.986
1:91977307:T:C	F295L	0.986
1:91977309:T:A	F295L	0.986
1:91977309:T:G	F295L	0.986
1:91964714:T:C	C94R	0.985
1:91981128:T:C	L567S	0.985
1:91962849:T:C	L32P	0.984
1:91964716:T:G	C94W	0.984

dbSNP variants (sampled 300 via entrez): RS1000024324 (1:92004277 C>G,T), RS1000048026 (1:91983501 A>G), RS1000117573 (1:91957500 A>C,G), RS1000134093 (1:92007926 T>C), RS1000229551 (1:91957368 C>G), RS1000259841 (1:91976528 A>G), RS1000303701 (1:91983372 C>T), RS1000333532 (1:91969555 C>T), RS1000345821 (1:91969147 A>T), RS1000417117 (1:92007694 C>T), RS1000418851 (1:91988622 A>G), RS1000474143 (1:92009168 A>G), RS1000531682 (1:91995797 C>G,T), RS1000592708 (1:92002520 T>A), RS1000623467 (1:92002399 T>C)

Disease associations

OMIM: gene MIM:602144 | disease phenotypes: MIM:617644, MIM:612561

GenCC curated gene-disease

Disease	Classification	Inheritance
spermatogenic failure 21	Limited	Unknown

Mondo (3): spermatogenic failure 21 (MONDO:0054725), primary ovarian failure (MONDO:0005387), Diamond-Blackfan anemia 6 (MONDO:0012937)

Orphanet (2): Diamond-Blackfan anemia (Orphanet:124), NON RARE IN EUROPE: Primary ovarian failure (Orphanet:619)

HPO phenotypes

5 total (5 of 5 shown, HPO-id order):

HPO	Term
HP:0000007	Autosomal recessive inheritance
HP:0003251	Male infertility
HP:0011462	Young adult onset
HP:0012207	Reduced sperm motility
HP:0012869	Acephalic spermatozoa

GWAS associations

3 associations (top):

Study	Trait	p-value
GCST004899_6	Gestational age at birth (maternal effect)	9.000000e-07
GCST008163_580	Height	3.000000e-06
GCST90002391_62	Mean corpuscular hemoglobin concentration	8.000000e-12

EFO canonical traits (3, from GWAS)

EFO ID	Trait name
EFO:0005112	gestational age
EFO:0005939	parental genotype effect measurement
EFO:0004528	mean corpuscular hemoglobin concentration

MeSH disease descriptors (2)

Descriptor	Name	Tree numbers
D016649	Primary Ovarian Insufficiency	C12.050.351.500.056.630.750; C12.100.250.056.630.750; C19.391.630.750
C538442	Aase Smith syndrome 2 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (2): CHEMBL1795185 (SINGLE PROTEIN), CHEMBL4296614 (PROTEIN FAMILY)

Molecules with ChEMBL bioactivity

12 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 44,674 (via chembl_molecule»patent_compound — counts attach to the compound, not the gene–compound relationship, so off-target/promiscuous molecules can dominate).

Molecule	Name	Phase	Patents
CHEMBL1287853	FEDRATINIB	4	3,554
CHEMBL2103830	FOSTAMATINIB	4	3,841
CHEMBL1233528	VOLASERTIB	3	1,511
CHEMBL2103840	DINACICLIB	3	2,257
CHEMBL2393130	APABETALONE	3	1,350
CHEMBL428690	ALVOCIDIB	3	27,781
CHEMBL1232461	MOLIBRESIB	2	1,538
CHEMBL3987016	MIVEBRESIB	2	773
CHEMBL513909	BI-2536	2	895
CHEMBL4078100	AZD-5153	1	591
CHEMBL4297454	ABBV-744	1	483
CHEMBL4785363	INOBRODIB	1	100

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

GtoPdb / IUPHAR curated pharmacology

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

Target class: other protein — Non-enzymatic BRD containing proteins

Most potent curated ligand interactions (4 total), top 4:

Ligand	Action	Affinity	Parameter
(+)-JQ1	Inhibition	7.96	pIC50
WNY0824	Inhibition	6.51	pIC50
XD14	Inhibition	5.92	pKd
GSK852	Inhibition	4.8	pKd

Binding affinities (BindingDB)

53 measured of 56 human assays (56 total across all organisms); most potent 50 below. Values come from heterogeneous assays and are not directly comparable.

Ligand	Measure	Value	Patent
(6S+2S)-PEG1 (7)	KD	0.039 nM
MTI (35)	KI	0.076 nM
(6S+2S)-PEG3 (9)	IC50	0.878 nM
(6S+2S)-PEG4 (10)	IC50	1.09 nM
(6S+2S)-PEG7 (11)	IC50	1.59 nM
(6S+2S)-PEG2 (8)	IC50	1.84 nM
N-[(2R)-1-(methylamino)-3-[1-[2-(4-methyl-2-oxo-1H-quinolin-6-yl)acetyl]piperidin-4-yl]-1-oxopropan-2-yl]-5-phenylpyridine-2-carboxamide	IC50	2.1 nM	US-20250304550: BROMODOMAIN AND EXTRA-TERMINAL (BET) SUBFAMILY BROMODOMAIN 1 (BD1) SELECTIVE INHIBITORS AND METHODS USING SAME
(6S+2S)-PEG0 (6)	IC50	2.36 nM
5-(4-chloro-3-fluorophenyl)-N-[(2R)-1-(methylamino)-3-[1-[2-(4-methyl-2-oxo-1H-quinolin-6-yl)acetyl]piperidin-4-yl]-1-oxopropan-2-yl]pyridine-2-carboxamide	IC50	4.7 nM	US-20250304550: BROMODOMAIN AND EXTRA-TERMINAL (BET) SUBFAMILY BROMODOMAIN 1 (BD1) SELECTIVE INHIBITORS AND METHODS USING SAME
5-(4-chlorophenyl)-N-[(2R)-1-(methylamino)-3-[1-[2-(4-methyl-2-oxo-1H-quinolin-6-yl)acetyl]piperidin-4-yl]-1-oxopropan-2-yl]pyridine-2-carboxamide	IC50	5.1 nM	US-20250304550: BROMODOMAIN AND EXTRA-TERMINAL (BET) SUBFAMILY BROMODOMAIN 1 (BD1) SELECTIVE INHIBITORS AND METHODS USING SAME
N-[(2R)-1-(methylamino)-1-oxo-3-[1-[2-(2-oxo-1H-quinolin-6-yl)acetyl]piperidin-4-yl]propan-2-yl]-5-phenylpyridine-2-carboxamide	IC50	5.4 nM	US-20250304550: BROMODOMAIN AND EXTRA-TERMINAL (BET) SUBFAMILY BROMODOMAIN 1 (BD1) SELECTIVE INHIBITORS AND METHODS USING SAME
6S+IBET-PEG3 (20)	IC50	5.78 nM
6S+IBET-PEG7 (22)	IC50	6.1 nM
6S+IBET-PEG4 (21)	IC50	6.2 nM
N-[1-(methylamino)-3-[1-[2-(4-methyl-2-oxo-1H-quinolin-6-yl)acetyl]piperidin-4-yl]-1-oxopropan-2-yl]-5-phenylpyridine-2-carboxamide	IC50	7.6 nM	US-20250304550: BROMODOMAIN AND EXTRA-TERMINAL (BET) SUBFAMILY BROMODOMAIN 1 (BD1) SELECTIVE INHIBITORS AND METHODS USING SAME
6S+IBET-PEG2 (19)	IC50	10 nM
6S+IBET-PEG1 (18)	IC50	12.1 nM
2S+IBET-PEG7 (28)	IC50	13.2 nM
IBETx2-PEG7 (34)	IC50	13.6 nM
3-[(3S)-3-aminopiperidin-1-yl]-5-(3,5-dimethyl-1,2-oxazol-4-yl)-3-phenyl-1H-indol-2-one	IC50	14 nM	US-9393232: Substituted 5-(3,5-dimethylisoxazol-4-yl)indoline-2-ones
N-[1-(methylamino)-3-[1-[2-(4-methyl-2-oxo-1H-quinolin-6-yl)acetyl]piperidin-4-yl]-1-oxopropan-2-yl]-5-(trifluoromethyl)pyridine-2-carboxamide	IC50	14 nM	US-20250304550: BROMODOMAIN AND EXTRA-TERMINAL (BET) SUBFAMILY BROMODOMAIN 1 (BD1) SELECTIVE INHIBITORS AND METHODS USING SAME
N-[1-(methylamino)-3-[1-[2-(4-methyl-2-oxo-1H-quinolin-6-yl)acetyl]piperidin-4-yl]-1-oxopropan-2-yl]pyridine-2-carboxamide	IC50	20.2 nM	US-20250304550: BROMODOMAIN AND EXTRA-TERMINAL (BET) SUBFAMILY BROMODOMAIN 1 (BD1) SELECTIVE INHIBITORS AND METHODS USING SAME
2S+IBET-PEG4 (27)	IC50	21.7 nM
5-(3,5-dimethyl-1,2-oxazol-4-yl)-3-[(3S)-3-hydroxypiperidin-1-yl]-3-phenyl-1H-indol-2-one	IC50	23 nM	US-9393232: Substituted 5-(3,5-dimethylisoxazol-4-yl)indoline-2-ones
2S+IBET-PEG2 (25)	IC50	23.2 nM
5-(3,5-dimethyl-1,2-oxazol-4-yl)-3-hydroxy-3-thiophen-3-yl-1H-indol-2-one	IC50	31 nM	US-9393232: Substituted 5-(3,5-dimethylisoxazol-4-yl)indoline-2-ones
5-(2,4-dimethylphenyl)-N-[1-[1-[2-(4-methyl-2-oxo-1H-quinolin-6-yl)acetyl]piperidin-4-yl]propan-2-yl]pyridine-2-carboxamide	IC50	31 nM	US-20250304550: BROMODOMAIN AND EXTRA-TERMINAL (BET) SUBFAMILY BROMODOMAIN 1 (BD1) SELECTIVE INHIBITORS AND METHODS USING SAME
2S+IBET-PEG3 (26)	IC50	31.7 nM
5-(2,4-dimethylphenyl)-N-[2-[1-[2-(4-methyl-2-oxo-1H-quinolin-6-yl)acetyl]piperidin-4-yl]ethyl]pyridine-2-carboxamide	IC50	33.7 nM	US-20250304550: BROMODOMAIN AND EXTRA-TERMINAL (BET) SUBFAMILY BROMODOMAIN 1 (BD1) SELECTIVE INHIBITORS AND METHODS USING SAME
N-[2-[1-[2-(4-methyl-2-oxo-1H-quinolin-6-yl)acetyl]piperidin-4-yl]ethyl]pyridine-2-carboxamide	IC50	35.4 nM	US-20250304550: BROMODOMAIN AND EXTRA-TERMINAL (BET) SUBFAMILY BROMODOMAIN 1 (BD1) SELECTIVE INHIBITORS AND METHODS USING SAME
2S+IBET-PEG1 (24)	IC50	40.3 nM
3-cyclohexyl-5-(3,5-dimethyl-1,2-oxazol-4-yl)-3-[[(2R)-2-hydroxypropyl]amino]-1H-indol-2-one	IC50	42 nM	US-9393232: Substituted 5-(3,5-dimethylisoxazol-4-yl)indoline-2-ones
N-[(2S)-1-(methylamino)-3-[1-[2-(4-methyl-2-oxo-1H-quinolin-6-yl)acetyl]piperidin-4-yl]-1-oxopropan-2-yl]-5-phenylpyridine-2-carboxamide	IC50	45.4 nM	US-20250304550: BROMODOMAIN AND EXTRA-TERMINAL (BET) SUBFAMILY BROMODOMAIN 1 (BD1) SELECTIVE INHIBITORS AND METHODS USING SAME
(R)-JQ1 (3)	KD	46 nM
5-(3,5-dimethyl-1,2-oxazol-4-yl)-3-hydroxy-3-(2-oxocyclohexyl)-1H-indol-2-one	IC50	58 nM	US-9393232: Substituted 5-(3,5-dimethylisoxazol-4-yl)indoline-2-ones
IBETx2-PEG4 (33)	IC50	60.2 nM
IBETx2-PEG3 (32)	IC50	64.6 nM
5-(3,5-dimethyl-1,2-oxazol-4-yl)-3-[[(2R)-1-hydroxypropan-2-yl]amino]-3-phenyl-1H-indol-2-one	IC50	69 nM	US-9393232: Substituted 5-(3,5-dimethylisoxazol-4-yl)indoline-2-ones
N-[2-[1-[2-(4-methyl-2-oxo-1H-quinolin-6-yl)acetyl]piperidin-4-yl]ethyl]quinoline-2-carboxamide	IC50	81.3 nM	US-20250304550: BROMODOMAIN AND EXTRA-TERMINAL (BET) SUBFAMILY BROMODOMAIN 1 (BD1) SELECTIVE INHIBITORS AND METHODS USING SAME
3-amino-5-(3,5-dimethyl-1,2-oxazol-4-yl)-3-phenyl-1H-indol-2-one	IC50	95 nM	US-9393232: Substituted 5-(3,5-dimethylisoxazol-4-yl)indoline-2-ones
N-[2-[1-[2-(4-methyl-2-oxo-1H-quinolin-6-yl)acetyl]piperidin-4-yl]ethyl]isoquinoline-3-carboxamide	IC50	116 nM	US-20250304550: BROMODOMAIN AND EXTRA-TERMINAL (BET) SUBFAMILY BROMODOMAIN 1 (BD1) SELECTIVE INHIBITORS AND METHODS USING SAME
IBETx2-PEG2 (31)	IC50	123 nM
(+)-JQ1	IC50	147 nM	US-9695172: Diazepane derivatives and uses thereof
6S+IBET-PEG0 (17)	IC50	148 nM
N-[2-[1-[2-(4-methyl-2-oxo-1H-quinolin-6-yl)acetyl]piperidin-4-yl]ethyl]benzamide	IC50	148 nM	US-20250304550: BROMODOMAIN AND EXTRA-TERMINAL (BET) SUBFAMILY BROMODOMAIN 1 (BD1) SELECTIVE INHIBITORS AND METHODS USING SAME
IBETx2-PEG0 (29)	IC50	203 nM
IBETx2-PEG1 (30)	IC50	203 nM
5-(3,5-dimethyl-1,2-oxazol-4-yl)-3-hydroxy-3-(oxan-4-yl)-1H-indol-2-one	IC50	510 nM	US-9393232: Substituted 5-(3,5-dimethylisoxazol-4-yl)indoline-2-ones
2S+IBET-PEG0 (23)	IC50	596 nM
N-[2-[1-[2-(4-methyl-2-oxo-1H-quinolin-6-yl)acetyl]piperidin-4-yl]ethyl]isoquinoline-1-carboxamide	IC50	638 nM	US-20250304550: BROMODOMAIN AND EXTRA-TERMINAL (BET) SUBFAMILY BROMODOMAIN 1 (BD1) SELECTIVE INHIBITORS AND METHODS USING SAME

ChEMBL bioactivities

459 potent at pChembl≥5 of 514 total, top 50 by pChembl (potency: 10 = 0.1 nM, 6 = 1 µM).

pChembl	Type	Value	Unit	Molecule
10.24	Kd	0.058	nM	CHEMBL5170488
10.05	Kd	0.089	nM	CHEMBL5170488
9.85	Kd	0.14	nM	CHEMBL4648912
9.80	Kd	0.16	nM	CHEMBL5188470
9.64	Kd	0.23	nM	CHEMBL4648912
9.23	Kd	0.59	nM	CHEMBL5201173
9.22	Kd	0.6	nM	CHEMBL5204093
9.22	Kd	0.6	nM	CHEMBL5206426
9.16	Ki	0.69	nM	CHEMBL4208129
9.10	Kd	0.8	nM	CHEMBL5206426
9.08	Kd	0.84	nM	CHEMBL5201173
9.04	Kd	0.92	nM	CHEMBL5178175
9.00	Ki	1	nM	ABBV-744
8.89	Kd	1.3	nM	CHEMBL5188470
8.85	Kd	1.4	nM	CHEMBL4648912
8.81	Kd	1.55	nM	CHEMBL5178175
8.81	IC50	1.55	nM	ABBV-744
8.80	IC50	1.585	nM	CHEMBL4869149
8.77	Kd	1.7	nM	CHEMBL5178175
8.70	Kd	2	nM	CHEMBL4173488
8.70	Kd	1.995	nM	CHEMBL4862372
8.70	Kd	2	nM	CHEMBL5590067
8.68	Kd	2.1	nM	CHEMBL4173488
8.68	Kd	2.1	nM	CHEMBL4440098
8.66	Ki	2.2	nM	MIVEBRESIB
8.66	Kd	2.2	nM	CHEMBL5206426
8.59	Kd	2.6	nM	CHEMBL5204093
8.52	Kd	3	nM	CHEMBL4528047
8.52	IC50	3	nM	CHEMBL4780530
8.52	Kd	3	nM	CHEMBL5590913
8.51	Kd	3.1	nM	CHEMBL5188470
8.51	Kd	3.1	nM	CHEMBL5274024
8.46	Kd	3.5	nM	CHEMBL5201173
8.40	IC50	4	nM	CHEMBL1957266
8.38	Ki	4.2	nM	CHEMBL4217457
8.31	Kd	4.9	nM	CHEMBL3926851
8.30	Kd	5	nM	CHEMBL3926851
8.30	Kd	5.012	nM	GSK973
8.30	Kd	5	nM	CHEMBL5184876
8.26	Kd	5.5	nM	CHEMBL4171228
8.26	Kd	5.5	nM	CHEMBL5170488
8.26	IC50	5.47	nM	CHEMBL1957266
8.23	Ki	5.9	nM	CHEMBL4215988
8.22	Kd	6	nM	CHEMBL4094346
8.22	Kd	6	nM	CHEMBL5184876
8.10	IC50	7.943	nM	CHEMBL4869149
8.10	Kd	7.943	nM	CHEMBL5405343
8.09	IC50	8.09	nM	CHEMBL5206088
8.08	Kd	8.4	nM	CHEMBL5204093
8.02	Kd	9.5	nM	CHEMBL4760892

PubChem BioAssay actives

314 with measured affinity, of 652 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
methyl 2-[(9S)-7-(4-chlorophenyl)-4-[2-[2-[[2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetyl]amino]ethoxy]ethylcarbamoyl]-5,13-dimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetate	1802214: BROMOscan Assay from Article 10.1038/nchembio.2209: “Design and characterization of bivalent BET inhibitors.”	kd	<0.0001	uM
2-[7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[2-[2-[2-[2-[2-[2-[2-[2-[[2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetyl]amino]ethoxy]ethoxy]ethoxy]ethoxy]ethoxy]ethoxy]ethoxy]ethyl]acetamide	1802215: Bromodomains Assay for DiscoveRx Gene Symbol from Article 10.1038/nchembio.2209: “Design and characterization of bivalent BET inhibitors.”	ki	0.0001	uM
N-[1-(1,1-dipyridin-2-ylethyl)-6-(1-methyl-7-oxo-6H-pyrrolo[2,3-c]pyridin-3-yl)indol-4-yl]ethanesulfonamide	1652243: Binding affinity to human partial length BRDT bromodomain 1 (N21 to E137 residues) expressed in bacterial expression system by BROMOscan assay	kd	0.0001	uM
N-[4-[2-[2-[2-[2-[4-(ethylsulfonylamino)-2-(2-methyl-1-oxoisoquinolin-4-yl)phenoxy]ethoxy]ethoxy]ethoxy]ethoxy]-3-(2-methyl-1-oxoisoquinolin-4-yl)phenyl]ethanesulfonamide	1870602: Inhibition of recombinant human BRDT-1 (21 to 137 residues) expressed in bacterial expression system by bromoscan assay	kd	0.0001	uM
4-[[4-[3-(tert-butylsulfonylamino)-4-chloroanilino]-5-methylpyrimidin-2-yl]amino]-N-[1-[3-[2-[2-[2-[[3-(tert-butylsulfonylamino)-5-[[2-[3-fluoro-4-(piperidin-4-ylcarbamoyl)anilino]-5-methylpyrimidin-4-yl]amino]benzoyl]amino]ethoxy]ethoxy]ethoxy]propanoyl]piperidin-4-yl]-2-fluorobenzamide	1870602: Inhibition of recombinant human BRDT-1 (21 to 137 residues) expressed in bacterial expression system by bromoscan assay	kd	0.0002	uM
4-[[4-[3-(tert-butylsulfonylamino)-4-chloroanilino]-5-methylpyrimidin-2-yl]amino]-N-[1-[3-[2-[2-[2-[2-[3-[4-[[4-[[4-[3-(tert-butylsulfonylamino)-4-chloroanilino]-5-methylpyrimidin-2-yl]amino]-2-fluorobenzoyl]amino]piperidin-1-yl]-3-oxopropoxy]ethoxy]ethoxy]ethoxy]ethoxy]propanoyl]piperidin-4-yl]-2-fluorobenzamide	1870602: Inhibition of recombinant human BRDT-1 (21 to 137 residues) expressed in bacterial expression system by bromoscan assay	kd	0.0006	uM
4-[[4-[3-(tert-butylsulfonylamino)-4-chloroanilino]-5-methylpyrimidin-2-yl]amino]-N-[1-[2-[2-[2-[2-[4-[[4-[[4-[3-(tert-butylsulfonylamino)-4-chloroanilino]-5-methylpyrimidin-2-yl]amino]-2-fluorobenzoyl]amino]piperidin-1-yl]-2-oxoethoxy]ethoxy]ethoxy]acetyl]piperidin-4-yl]-2-fluorobenzamide	1870602: Inhibition of recombinant human BRDT-1 (21 to 137 residues) expressed in bacterial expression system by bromoscan assay	kd	0.0006	uM
4-[[4-[3-(tert-butylsulfonylamino)-4-chloroanilino]-5-methylpyrimidin-2-yl]amino]-N-[1-[2-[2-[2-[4-[[4-[[4-[3-(tert-butylsulfonylamino)-4-chloroanilino]-5-methylpyrimidin-2-yl]amino]-2-fluorobenzoyl]amino]piperidin-1-yl]-2-oxoethoxy]ethoxy]acetyl]piperidin-4-yl]-2-fluorobenzamide	1870604: Binding affinity to N-terminal hexa-histidine tagged BRDT-T (2 to 416 residues) (unknown origin) expressed in Escherichia coli BL21(DE3) cells	kd	0.0006	uM
15-methyl-4-(methylsulfonylmethyl)-8-pyridin-2-yl-8,12,15-triazatetracyclo[8.6.1.02,7.013,17]heptadeca-1(16),2(7),3,5,10,13(17)-hexaen-14-one	1380476: Binding affinity to BRDT bromodomain 1 to 2 (N21to P380 amino acids) (unknown origin) using Alexa647-labeled BET-inhibitor as fluorescent probe by bromodomain TR-FRET binding assay	ki	0.0007	uM
methyl 2-[(9S)-7-(4-chlorophenyl)-4-[2-[2-[2-[2-[[2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetyl]amino]ethoxy]ethoxy]ethoxy]ethylcarbamoyl]-5,13-dimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetate	1802212: AlphaScreen BRD Binding Assay from Article 10.1038/nchembio.2209: “Design and characterization of bivalent BET inhibitors.”	ic50	0.0009	uM
4-[[4-[3-(tert-butylsulfonylamino)-4-chloroanilino]-5-methylpyrimidin-2-yl]amino]-N-[1-[3-[2-[2-[2-[3-[4-[[4-[[4-[3-(tert-butylsulfonylamino)-4-chloroanilino]-5-methylpyrimidin-2-yl]amino]-2-fluorobenzoyl]amino]piperidin-1-yl]-3-oxopropoxy]ethoxy]ethoxy]ethoxy]propanoyl]piperidin-4-yl]-2-fluorobenzamide	1870602: Inhibition of recombinant human BRDT-1 (21 to 137 residues) expressed in bacterial expression system by bromoscan assay	kd	0.0009	uM
N-ethyl-4-[2-(4-fluoro-2,6-dimethylphenoxy)-5-(2-hydroxypropan-2-yl)phenyl]-6-methyl-7-oxo-1H-pyrrolo[2,3-c]pyridine-2-carboxamide	1548985: Inhibition of BRDT BD2 (unknown origin) after 1 hr by TR-FRET assay	ki	0.0010	uM
methyl 2-[(9S)-7-(4-chlorophenyl)-4-[2-[2-[2-[2-[2-[[2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetyl]amino]ethoxy]ethoxy]ethoxy]ethoxy]ethylcarbamoyl]-5,13-dimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetate	1802212: AlphaScreen BRD Binding Assay from Article 10.1038/nchembio.2209: “Design and characterization of bivalent BET inhibitors.”	ic50	0.0011	uM
methyl 2-[(9S)-7-(4-chlorophenyl)-4-[2-[2-[2-[2-[2-[2-[2-[2-[[2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetyl]amino]ethoxy]ethoxy]ethoxy]ethoxy]ethoxy]ethoxy]ethoxy]ethylcarbamoyl]-5,13-dimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetate	1802212: AlphaScreen BRD Binding Assay from Article 10.1038/nchembio.2209: “Design and characterization of bivalent BET inhibitors.”	ic50	0.0016	uM
(3S)-5-N-[(1R,5S)-3-hydroxy-6-bicyclo[3.1.0]hexanyl]-7-N,3-dimethyl-3-phenyl-2H-1-benzofuran-5,7-dicarboxamide	1777120: Inhibition of recombinant human BRDT BD2 (250 to 382 residues) expressed in bacterial expression system by bromoscan assay	ic50	0.0016	uM
methyl 2-[(9S)-7-(4-chlorophenyl)-4-[2-[2-[2-[[2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetyl]amino]ethoxy]ethoxy]ethylcarbamoyl]-5,13-dimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetate	1802212: AlphaScreen BRD Binding Assay from Article 10.1038/nchembio.2209: “Design and characterization of bivalent BET inhibitors.”	ic50	0.0018	uM
N-(3-cyclopropyl-1-methylpyrazol-5-yl)-7-(3,5-dimethyl-1,2-oxazol-4-yl)-6-methoxy-2-methyl-9H-pyrimido[4,5-b]indol-4-amine	1356123: Binding affinity to human BRDT bromodomain 1 (N21 to E137 residues) expressed in bacterial expression system by BROMOscan assay	kd	0.0020	uM
6-[hydroxy(phenyl)methyl]-2-N-methyl-4-N-[(1S,2S)-2-methylcyclopropyl]pyridine-2,4-dicarboxamide	1751400: Binding affinity to human partial length BRDT BD 2 (K250 to E382 residues) expressed in bacterial expression system by BROMOscan assay	kd	0.0020	uM
7-[2-(cyclopropylmethoxy)phenyl]-5-methyl-2-[[(2R)-2-methyl-4-methylsulfonylpiperazin-1-yl]methyl]furo[3,2-c]pyridin-4-one	2112655: Binding affinity to BRDT BD1 (unknown origin) assessed as dissociation constant by BROMOscan assay	kd	0.0020	uM
6-[2-(2,4-difluorophenoxy)-5-(ethylsulfonylmethyl)-3-pyridinyl]-8-methyl-2H-pyrrolo[1,2-a]pyrazin-1-one	1605886: Binding affinity to human partial length BRDT bromodomain 2 isoform b (K250 to E382 residues) expressed in bacterial expression system by bromoscan assay	kd	0.0021	uM
N-[4-(2,4-difluorophenoxy)-3-(6-methyl-7-oxo-1H-pyrrolo[2,3-c]pyridin-4-yl)phenyl]ethanesulfonamide	1465490: Binding affinity to BRDT BD1 to BD2 (N21 to P380 residues) (unknown origin)	ki	0.0022	uM
methyl 2-[(9S)-7-(4-chlorophenyl)-4-[2-[[2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetyl]amino]ethylcarbamoyl]-5,13-dimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetate	1802212: AlphaScreen BRD Binding Assay from Article 10.1038/nchembio.2209: “Design and characterization of bivalent BET inhibitors.”	ic50	0.0024	uM
(6R)-N-(4-chlorophenyl)-1-methyl-8-(1-methylpyrazol-4-yl)-5,6-dihydro-4H-[1,2,4]triazolo[4,3-a][1]benzazepin-6-amine	1565558: Binding affinity to human partial length BRDT bromodomain 2 isoform b (K250 to E382 residues) expressed in bacterial expression system by bromoscan assay	kd	0.0030	uM
5-methyl-2-[[(2R)-2-methyl-4-methylsulfonylpiperazin-1-yl]methyl]-7-[3-(methylsulfonylmethyl)phenyl]furo[3,2-c]pyridin-4-one	2112655: Binding affinity to BRDT BD1 (unknown origin) assessed as dissociation constant by BROMOscan assay	kd	0.0030	uM
5-[(4R)-6-(4-chlorophenyl)-1,4-dimethyl-4,5-dihydro-[1,2,4]triazolo[3,4-d][1,5]benzodiazepin-8-yl]pyridin-2-amine	1711615: Inhibition of BRDT BD1 (unknown origin) using biotinylated JQ1 analog as substrate measured after 20 mins by AlphaLISA assay	ic50	0.0030	uM
8-(2,4-difluorophenyl)-15-methyl-4-(methylsulfonylmethyl)-8,12,15-triazatetracyclo[8.6.1.02,7.013,17]heptadeca-1(16),2(7),3,5,10,13(17)-hexaen-14-one	1380476: Binding affinity to BRDT bromodomain 1 to 2 (N21to P380 amino acids) (unknown origin) using Alexa647-labeled BET-inhibitor as fluorescent probe by bromodomain TR-FRET binding assay	ki	0.0042	uM
4-[2-cyclopropyl-7-(6-methylquinolin-5-yl)-3H-benzimidazol-5-yl]-3,5-dimethyl-1,2-oxazole	1535673: Binding affinity to BRDT bromodomain 1/2 (unknown origin) after 1 hr by bromoscan assay	kd	0.0049	uM
N-[4-(4-chlorophenoxy)-3-(2-methyl-1-oxoisoquinolin-4-yl)phenyl]ethanesulfonamide	1870602: Inhibition of recombinant human BRDT-1 (21 to 137 residues) expressed in bacterial expression system by bromoscan assay	kd	0.0050	uM
tert-butyl 2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetate	1965354: Binding affinity to human partial length BRDT BD2 (K250 to E382 residues) expressed in bacterial expression system using H4K5acIC8acK12acK16ac-biotinylated peptide as substrate preincubated for 30 mins followed by substrate addition by AlphaScreen assay	ic50	0.0055	uM
4-(6-methoxy-2-methyl-4-quinolin-4-yl-9H-pyrimido[4,5-b]indol-7-yl)-3,5-dimethyl-1,2-oxazole	1371276: Binding affinity to human partial length BRDT bromodomain 2 isoform b (K250 to E382 residues) expressed in bacterial expression system by BROMOscan assay	kd	0.0055	uM
2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[2-[2-[2-[2-[[2-[7-(3,5-dimethyl-1,2-oxazol-4-yl)-8-methoxy-2-oxo-1-[(1R)-1-pyridin-2-ylethyl]imidazo[4,5-c]quinolin-3-yl]acetyl]amino]ethoxy]ethoxy]ethoxy]ethyl]acetamide	1802212: AlphaScreen BRD Binding Assay from Article 10.1038/nchembio.2209: “Design and characterization of bivalent BET inhibitors.”	ic50	0.0058	uM
8-(4-fluorophenyl)-12-methyl-4-(methylsulfonylmethyl)-8,12,15-triazatetracyclo[8.6.1.02,7.013,17]heptadeca-1(16),2(7),3,5,10,13(17)-hexaen-14-one	1380476: Binding affinity to BRDT bromodomain 1 to 2 (N21to P380 amino acids) (unknown origin) using Alexa647-labeled BET-inhibitor as fluorescent probe by bromodomain TR-FRET binding assay	ki	0.0059	uM
2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[4-[[2-[2-(2,6-dioxopiperidin-3-yl)-1,3-dioxoisoindol-4-yl]oxyacetyl]amino]butyl]acetamide	1666860: Binding affinity to human partial length BRDT bromodomain 1 (N21 to E137 residues) expressed in bacterial expression system by BROMOscan assay	kd	0.0060	uM
2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[2-[2-[2-[2-[2-[2-[2-[2-[[2-[7-(3,5-dimethyl-1,2-oxazol-4-yl)-8-methoxy-2-oxo-1-[(1R)-1-pyridin-2-ylethyl]imidazo[4,5-c]quinolin-3-yl]acetyl]amino]ethoxy]ethoxy]ethoxy]ethoxy]ethoxy]ethoxy]ethoxy]ethyl]acetamide	1802212: AlphaScreen BRD Binding Assay from Article 10.1038/nchembio.2209: “Design and characterization of bivalent BET inhibitors.”	ic50	0.0061	uM
2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[2-[2-[2-[2-[2-[[2-[7-(3,5-dimethyl-1,2-oxazol-4-yl)-8-methoxy-2-oxo-1-[(1R)-1-pyridin-2-ylethyl]imidazo[4,5-c]quinolin-3-yl]acetyl]amino]ethoxy]ethoxy]ethoxy]ethoxy]ethyl]acetamide	1802212: AlphaScreen BRD Binding Assay from Article 10.1038/nchembio.2209: “Design and characterization of bivalent BET inhibitors.”	ic50	0.0062	uM
1,3-dimethyl-5-[1-[[(3S)-1-(1-propan-2-ylpiperidine-4-carbonyl)piperidin-3-yl]methyl]benzimidazol-2-yl]pyridin-2-one	2022146: Inhibition of BRDT BD1 (unknown origin) by BROMOscan assay	kd	0.0079	uM
4-[[4-[3-(tert-butylsulfonylamino)-4-chloroanilino]-5-methylpyrimidin-2-yl]amino]-2-fluoro-N-(1-methylpiperidin-4-yl)benzamide	1870602: Inhibition of recombinant human BRDT-1 (21 to 137 residues) expressed in bacterial expression system by bromoscan assay	kd	0.0095	uM
2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[2-[2-[2-[[2-[7-(3,5-dimethyl-1,2-oxazol-4-yl)-8-methoxy-2-oxo-1-[(1R)-1-pyridin-2-ylethyl]imidazo[4,5-c]quinolin-3-yl]acetyl]amino]ethoxy]ethoxy]ethyl]acetamide	1802212: AlphaScreen BRD Binding Assay from Article 10.1038/nchembio.2209: “Design and characterization of bivalent BET inhibitors.”	ic50	0.0100	uM
(3R,4R)-N-cyclohexyl-4-[[5-(furan-2-yl)-3-methyl-2-oxo-1H-1,7-naphthyridin-8-yl]amino]-1-methylpiperidine-3-carboxamide	1721397: Binding affinity to full length BRDT BD1 in human HuT78 cell lysates incubated for 45 mins by liquid chromatography-mass spectrometry based chemoproteomic binding assay	kd	0.0100	uM
N-[1-(1,1-dipyridin-2-ylethyl)-6-[1-methyl-6-oxo-5-(piperidin-4-ylamino)-3-pyridinyl]indol-4-yl]ethanesulfonamide	2088718: Binding affinity to BRDT BD1 (unknown origin) assessed as dissociation constant by BROMOscan analysis	kd	0.0100	uM
4-[[2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetyl]amino]-N-hydroxybenzamide	1845317: Inhibition of recombinant BRDT-BD1 (unknown origin) by TR-FRET assay	ic50	0.0110	uM
2-[(9S)-7-(4-chlorophenyl)-4,5,13-trimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]-N-[2-[2-[[2-[7-(3,5-dimethyl-1,2-oxazol-4-yl)-8-methoxy-2-oxo-1-[(1R)-1-pyridin-2-ylethyl]imidazo[4,5-c]quinolin-3-yl]acetyl]amino]ethoxy]ethyl]acetamide	1802212: AlphaScreen BRD Binding Assay from Article 10.1038/nchembio.2209: “Design and characterization of bivalent BET inhibitors.”	ic50	0.0121	uM
methyl 2-[7-(4-chlorophenyl)-4-[2-[2-[2-[2-[2-[2-[2-[2-[[2-[7-(3,5-dimethyl-1,2-oxazol-4-yl)-8-methoxy-2-oxo-1-[(1R)-1-pyridin-2-ylethyl]imidazo[4,5-c]quinolin-3-yl]acetyl]amino]ethoxy]ethoxy]ethoxy]ethoxy]ethoxy]ethoxy]ethoxy]ethylcarbamoyl]-5,13-dimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetate	1802212: AlphaScreen BRD Binding Assay from Article 10.1038/nchembio.2209: “Design and characterization of bivalent BET inhibitors.”	ic50	0.0132	uM
2-[7-(3,5-dimethyl-1,2-oxazol-4-yl)-8-methoxy-2-oxo-1-[(1S)-1-pyridin-2-ylethyl]imidazo[4,5-c]quinolin-3-yl]-N-[2-[2-[2-[2-[2-[2-[2-[2-[[2-[7-(3,5-dimethyl-1,2-oxazol-4-yl)-8-methoxy-2-oxo-1-[(1R)-1-pyridin-2-ylethyl]imidazo[4,5-c]quinolin-3-yl]acetyl]amino]ethoxy]ethoxy]ethoxy]ethoxy]ethoxy]ethoxy]ethoxy]ethyl]acetamide	1802212: AlphaScreen BRD Binding Assay from Article 10.1038/nchembio.2209: “Design and characterization of bivalent BET inhibitors.”	ic50	0.0136	uM
N-[4-[(7-methoxy-1-methyl-[1,2,4]triazolo[4,3-a]quinoxalin-4-yl)amino]butyl]-3-methylbutanamide	2100766: Binding affinity to human BRDT assessed as dissociation constant by ITC analysis	kd	0.0136	uM
2-[4-[5-[6-(3,5-dimethylphenoxy)-2-pyridinyl]-4-methyltriazol-1-yl]piperidin-1-yl]-N,N-dimethylethanamine	1814815: Binding affinity to human partial length BRDT BD1 expressed in bacterial expression system assessed as dissociation constant by BROMOscan assay	kd	0.0150	uM
5-[4-[(3-chlorophenyl)methylamino]-2-[4-[2-(dimethylamino)ethyl]piperazin-1-yl]quinazolin-6-yl]-1-methylpyridin-2-one	1418213: Displacement of biotinylated acetylated peptide from recombinant human partial length BRDT isoform b bromodomain 1 (N21 to E137 residues) expressed in Escherichia coli BL21 measured after 1 hr by Bromoscan method	kd	0.0200	uM
1-[(2S)-2-cyclopropyl-4-[[2-(hydroxymethyl)phenyl]methyl]-6-(1,2,3,6-tetrahydropyridin-4-yl)-2,3-dihydroquinoxalin-1-yl]ethanone	1375142: Binding affinity to human partial length DNA-tagged BRDT isoform b BD2 expressed in bacterial by BROMOscan method	kd	0.0209	uM
methyl 2-[7-(4-chlorophenyl)-4-[2-[2-[2-[2-[2-[[2-[7-(3,5-dimethyl-1,2-oxazol-4-yl)-8-methoxy-2-oxo-1-[(1R)-1-pyridin-2-ylethyl]imidazo[4,5-c]quinolin-3-yl]acetyl]amino]ethoxy]ethoxy]ethoxy]ethoxy]ethylcarbamoyl]-5,13-dimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetate	1802212: AlphaScreen BRD Binding Assay from Article 10.1038/nchembio.2209: “Design and characterization of bivalent BET inhibitors.”	ic50	0.0217	uM
methyl 2-[7-(4-chlorophenyl)-4-[2-[2-[2-[[2-[7-(3,5-dimethyl-1,2-oxazol-4-yl)-8-methoxy-2-oxo-1-[(1R)-1-pyridin-2-ylethyl]imidazo[4,5-c]quinolin-3-yl]acetyl]amino]ethoxy]ethoxy]ethylcarbamoyl]-5,13-dimethyl-3-thia-1,8,11,12-tetrazatricyclo[8.3.0.02,6]trideca-2(6),4,7,10,12-pentaen-9-yl]acetate	1802212: AlphaScreen BRD Binding Assay from Article 10.1038/nchembio.2209: “Design and characterization of bivalent BET inhibitors.”	ic50	0.0232	uM

CTD chemical–gene interactions

10 total (human), top 10 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
bisphenol S	affects cotreatment, decreases methylation, increases expression	2
CGP 52608	affects binding, increases reaction	1
(+)-JQ1 compound	affects binding	1
Fulvestrant	affects cotreatment, decreases methylation	1
Air Pollutants	increases abundance, increases expression	1
Benzo(a)pyrene	increases methylation	1
Pesticides	affects methylation	1
Quercetin	increases expression	1
Valproic Acid	increases expression	1
Particulate Matter	increases abundance, increases expression	1

ChEMBL screening assays

348 unique, capped per target: 330 binding, 14 functional, 4 admet

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL1832849	Binding	Binding affinity to BRDT assessed as change in melting temperature at 100 uM by differential scanning fluorimetry	3,5-dimethylisoxazoles act as acetyl-lysine-mimetic bromodomain ligands. — J Med Chem
CHEMBL4668940	ADMET	Displacement of Alexa Fluor 647 labelled ligand from 6His-FLAG-Tev-tagged BRDT BD1/BD2 Y309A (1 to 397 residues) (unknown origin) measured after 30 mins by TR-FRET assay	Design and Synthesis of a Highly Selective and In Vivo-Capable Inhibitor of the Second Bromodomain of the Bromodomain and Extra Terminal Domain Family of Proteins. — J Med Chem
CHEMBL5210062	Functional	Affinity Phenotypic Cellular interaction (Cell Proliferation (Cell TiterGlo assay Promega in NMC 11060 cells)) EUB0000330a BRDT	Affinity Phenotypic Cellular Literature for EUbOPEN Chemogenomics Library wave 3

Cellosaurus cell lines

4 cell lines: 2 transformed cell line, 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_KW07	InCELL Hunter HEK 293 BRDT(1) Bromodomain	Transformed cell line	Female
CVCL_KW08	InCELL Hunter HEK 293 BRDT(1,2) Bromodomain	Transformed cell line	Female
CVCL_SF69	HAP1 BRDT (-) 1	Cancer cell line	Male
CVCL_SF70	HAP1 BRDT (-) 2	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00417066	PHASE4	COMPLETED	Flexible GnRH Antagonist vs Flare up GnRH Agonist Protocol in Poor Responders
NCT00732693	PHASE4	COMPLETED	Evaluation of Physiologic and Standard Sex Steroid Replacement Regimens in Women With Premature Ovarian Failure
NCT00837616	PHASE4	COMPLETED	Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism
NCT01853501	PHASE4	UNKNOWN	Effects of ADSC Therapy in Women With POF
NCT02783937	PHASE4	COMPLETED	Filgrastim for Premature Ovarian Insufficiency
NCT03535480	PHASE4	UNKNOWN	Autologous Bone Marrow Stem Cell Ovarian Transplantation to Restore Ovarian Function in Premature Ovarian Failure
NCT00140998	PHASE3	COMPLETED	Estrogen Treatment (Oral vs. Patches) in Turner Syndrome
NCT00001951	PHASE2	COMPLETED	Hormone Replacement in Young Women With Premature Ovarian Failure
NCT00370019	PHASE2	WITHDRAWN	Effects of an Estrogen Replacement Therapy Skin Patch on Ovulation in Women With Premature Ovarian Failure
NCT00429494	PHASE2	COMPLETED	GnRH Analogue for Ovarian Function Preservation in Hematopoietic Stem Cell Transplantation Patients
NCT03816852	PHASE2	SUSPENDED	The Safety and Efficiency Study of Mesenchymal Stem Cell (19#iSCLife®-POI) in Premature Ovarian Insufficiency
NCT04536467	PHASE2	UNKNOWN	Prevention of Chemotherapy-Induced Ovarian Failure With Goserelin in Premenopausal Lymphoma Patients
NCT06117982	PHASE2	COMPLETED	The Impact of Granulocyte Colony Stimulating Factor on Premature Ovarian Insufficiency
NCT02912104	PHASE1	COMPLETED	A Therapeutic Trial of Human Amniotic Epithelial Cells Transplantation for Primary Ovarian Failure
NCT03178695	PHASE1	COMPLETED	Inovium Ovarian Rejuvenation Trials
NCT04815213	PHASE1	ACTIVE_NOT_RECRUITING	The Use of Expandeded Mesenchymal Stromal Cells (MSC) in Premature Ovarian Failure (POF) in Adult Humans
NCT05138367	PHASE1	COMPLETED	Effects of UCA-PSCs in Women With POF
NCT06132542	PHASE1	UNKNOWN	Autologous ADMSC Transplantation in Patients With POI
NCT00948857	PHASE2/PHASE3	TERMINATED	Dehydroepiandrosterone (DHEA) Treatment and Premature Ovarian Failure (POF)
NCT04031456	PHASE2/PHASE3	RECRUITING	Autologous PRP Infusion May Restore Ovarian Function and May Promote Folliculogenesis in POI Patients
NCT02043743	PHASE1/PHASE2	UNKNOWN	Autologous Stem Cells Transplantation in Patients With Idiopathic and Drug Induced Premature Ovarian Failure
NCT02062931	PHASE1/PHASE2	UNKNOWN	Autologous Mesenchymal Stem Cells Transplantation In Women With Premature Ovarian Failure
NCT02151890	PHASE1/PHASE2	COMPLETED	Pregnancy After Stem Cell Transplantation in Premature Ovarian Failure
NCT02372474	PHASE1/PHASE2	COMPLETED	It is a Real The First Baby Of Autologous Stem Cell Therapy in Premature Ovarian Failure
NCT02603744	PHASE1/PHASE2	UNKNOWN	Autologous Adipose Derived Mesenchymal Stromal Cells Transplantation in Women With Premature Ovarian Failure (POF)
NCT02644447	PHASE1/PHASE2	COMPLETED	Transplantation of HUC-MSCs With Injectable Collagen Scaffold for POF
NCT03069209	PHASE1/PHASE2	UNKNOWN	Autologous Bone Marrow-Derived Stem Cell Transplantation in Patients With Premature Ovarian Failure (POF)
NCT03985462	PHASE1/PHASE2	WITHDRAWN	Very Small Embryonic-like Stem Cells for Ovary
NCT04009473	PHASE1/PHASE2	UNKNOWN	Stem Cell Therapy and Growth Factor Ovarian in Vitro Activation
NCT04071574	PHASE1/PHASE2	COMPLETED	Comparative Study on the Efficacy of Ovarian Stimulation Protocols on the Success Rate of ICSI in Female Infertility
NCT04922398	PHASE1/PHASE2	UNKNOWN	Ovarian Injection of PRP (Platelet -Rich Plasma) Vs Normal Saline in Premature Ovarian Insufficiency
NCT05462379	PHASE1/PHASE2	ACTIVE_NOT_RECRUITING	Autologous Heterotopic Fresh Ovarian Graft in Woman With LACC Eligible for Pelvic Radiotherapy Treatment.
NCT06202547	PHASE1/PHASE2	UNKNOWN	Intra-ovarian Injection of MSC-EVs in Idiopathic Premature Ovarian Failure
NCT01129947	EARLY_PHASE1	WITHDRAWN	The Use of DHEA in Women With Premature Ovarian Failure
NCT05522634	EARLY_PHASE1	UNKNOWN	A Clinical Study of Chinese Herbal Compound TJAOA101 in the Treatment of Premature Ovarian Insufficiency
NCT07308327	EARLY_PHASE1	ACTIVE_NOT_RECRUITING	The Influence of Gut Microbiota on Ovarian Function: A Single-center, Randomized,Double Blind, Parallel-controlled, Exploratory Clinical Trial
NCT00001275	Not specified	COMPLETED	Ovarian Follicle Function in Patients With Primary Ovarian Failure
NCT00001306	Not specified	COMPLETED	Steroid Therapy in Autoimmune Premature Ovarian Failure
NCT00006156	Not specified	COMPLETED	Feasibility Study for Development of an Early Test for Ovarian Failure
NCT00119925	Not specified	UNKNOWN	‘SPRING’-Study: Subfertility Guidelines: Patient Related Implementation in the Netherlands Among Gynaecologists