BAZ1B

Summary

BAZ1B (bromodomain adjacent to zinc finger domain 1B, HGNC:961) is a protein-coding gene on chromosome 7q11.23, encoding Tyrosine-protein kinase BAZ1B (Q9UIG0). Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a transcription regulator. It is a selective cancer dependency (DepMap: 11.6% of cell lines).

This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23.

Source: NCBI Gene 9031 — RefSeq curated summary.

At a glance

• Gene–disease (curated): autism spectrum disorder (Limited, GenCC)
• GWAS associations: 31
• Clinical variants (ClinVar): 216 total — 3 pathogenic
• Phenotypes (HPO): 186
• Druggable target: yes
• Cancer dependency (DepMap): dependent in 11.6% of screened cell lines
• MANE Select transcript: NM_032408

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:961
Approved symbol	BAZ1B
Name	bromodomain adjacent to zinc finger domain 1B
Location	7q11.23
Locus type	gene with protein product
Status	Approved
Aliases	WSTF
Ensembl gene	ENSG00000009954
Ensembl biotype	protein_coding
OMIM	605681
Entrez	9031

Gene structure

Transcript identifiers

Ensembl transcripts: 3 — 2 protein_coding, 1 retained_intron

ENST00000339594, ENST00000404251, ENST00000466844

RefSeq mRNA: 2 — MANE Select: NM_032408 NM_001370402, NM_032408

CCDS: CCDS5549

Canonical transcript exons

ENST00000339594 — 20 exons

Exon	Start	End
ENSE00000689828	73442725	73442828
ENSE00000689832	73443984	73444129
ENSE00000689878	73449542	73449689
ENSE00000689926	73459536	73459718
ENSE00000689928	73462922	73463099
ENSE00000689935	73466296	73466401
ENSE00000689939	73489194	73489391
ENSE00000689942	73498497	73498698
ENSE00000843335	73450847	73450994
ENSE00000843337	73442181	73442553
ENSE00001017417	73447264	73447379
ENSE00001091306	73470345	73470483
ENSE00001091310	73469517	73469650
ENSE00001160864	73492800	73492921
ENSE00001160866	73508327	73508471
ENSE00001160872	73510736	73510852
ENSE00001205451	73476868	73478569
ENSE00001385795	73440406	73441693
ENSE00001841762	73521827	73522293
ENSE00003559077	73465439	73465537

Expression profiles

Bgee: expression breadth ubiquitous, 285 present calls, max score 97.12.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 26.8105 / max 215.3042, expressed in 1817 samples.

FANTOM5 promoters (5 alternative TSS)

Promoter ID	TPM avg	Samples expressed
84297	9.8554	1760
84298	9.6114	1753
84296	5.9486	1706
84295	0.7717	465
84284	0.6234	366

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
oocyte	CL:0000023	97.12	gold quality
secondary oocyte	CL:0000655	96.04	gold quality
ventricular zone	UBERON:0003053	96.00	gold quality
ganglionic eminence	UBERON:0004023	95.16	gold quality
sural nerve	UBERON:0015488	94.61	gold quality
embryo	UBERON:0000922	93.98	gold quality
calcaneal tendon	UBERON:0003701	93.66	gold quality
cortical plate	UBERON:0005343	93.11	gold quality
type B pancreatic cell	CL:0000169	92.72	gold quality
cerebellar vermis	UBERON:0004720	92.35	gold quality
stromal cell of endometrium	CL:0002255	92.14	gold quality
islet of Langerhans	UBERON:0000006	92.11	gold quality
endometrium epithelium	UBERON:0004811	92.07	gold quality
paraflocculus	UBERON:0005351	91.81	gold quality
vena cava	UBERON:0004087	91.72	gold quality
tendon	UBERON:0000043	91.47	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	91.33	gold quality
colonic epithelium	UBERON:0000397	90.92	gold quality
smooth muscle tissue	UBERON:0001135	90.88	gold quality
middle frontal gyrus	UBERON:0002702	90.81	gold quality
seminal vesicle	UBERON:0000998	90.50	gold quality
medial globus pallidus	UBERON:0002477	90.35	gold quality
corpus callosum	UBERON:0002336	90.19	gold quality
lymph node	UBERON:0000029	90.16	gold quality
olfactory bulb	UBERON:0002264	89.76	gold quality
right coronary artery	UBERON:0001625	89.65	gold quality
gastrocnemius	UBERON:0001388	89.53	gold quality
ovary	UBERON:0000992	89.50	gold quality
muscle of leg	UBERON:0001383	89.38	gold quality
globus pallidus	UBERON:0001875	89.35	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 1.

Experiment	Marker?	Max mean expression
E-ANND-3	yes	11.27
E-MTAB-7249	no	420.06

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TCF3, VDR

miRNA regulators (miRDB)

115 targeting BAZ1B, 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-LET-7B-3P	100.00	74.08	3913
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-6748-5P	100.00	65.81	1057
HSA-MIR-340-5P	100.00	72.50	4437
HSA-MIR-3925-3P	100.00	69.95	1237
HSA-MIR-196A-1-3P	99.99	72.15	2772
HSA-MIR-520G-5P	99.99	66.76	658
HSA-LET-7F-2-3P	99.98	70.98	2588
HSA-MIR-1185-1-3P	99.98	71.04	2593
HSA-MIR-1185-2-3P	99.98	71.04	2593
HSA-MIR-4789-5P	99.98	70.76	2721
HSA-MIR-3065-5P	99.97	71.56	3281
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-493-5P	99.96	72.47	2382
HSA-MIR-495-3P	99.96	72.81	4197
HSA-MIR-5688	99.96	73.23	4504
HSA-MIR-381-3P	99.93	71.87	2854
HSA-MIR-6721-5P	99.93	68.92	2981
HSA-MIR-6508-5P	99.92	70.67	2465
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-300	99.92	71.76	2856
HSA-MIR-8063	99.91	69.76	3146
HSA-MIR-3529-3P	99.90	73.55	3045
HSA-MIR-95-5P	99.89	72.17	3973
HSA-MIR-6780A-5P	99.88	66.69	2776
HSA-MIR-4492	99.87	68.25	3611
HSA-MIR-8067	99.86	69.59	2260
HSA-MIR-4447	99.85	67.81	2900

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 11.6% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 21)

• A multiprotein complex containing WSTF, nuclear myosin 1 (NM1), and SWI/SNF related, matrix associated, actin dependent regulator of chromatin subfamily A member 5 protein(SNF2h) is required for ribosomal DNA transcription. (PMID:16514417)
• WSTF-SNF2h-NM1 forms a platform in transcription while providing chromatin remodeling (PMID:16603771)
• WSTF phosphorylates Tyr 142 of H2A.X, and WSTF activity has an important role in regulating several events that are critical for the DNA damage response (PMID:19092802)
• This review describes the three known WSTF-containing complexes and discuss their various roles as well as mechanisms of regulating WSTF activity. (PMID:21326359)
• EB1089 inhibits aromatase expression by dissociation of comodulator WSTF from the CYP19A1 promoter. (PMID:23085504)
• Data indicate that the heterochromatic H2A.X is preferentially phosphorylated presumably by the accumulating WSTF-ISWI chromatin remodeling (WICH) complex, and suggests that Tyr142p might have a specific role in heterochromatin. (PMID:23319141)
• A pivotal role for BAZ1B in neurodevelopment was revealed and its haploinsufficiency was implicated as a likely contributor to the neurological phenotypes in Williams syndrome through transcriptional dysregulation. (PMID:26755828)
• WSTF may act as an oncoprotein in lung cancer to accelerate tumor aggressiveness. (PMID:27449264)
• Data show that Williams-Beuren syndrome transcription factor (WSTF) release was mediated by neuregulin-3 (NRG3) following KRASG12V expression in intestinal epithelial cells. (PMID:27449290)
• The major conclusions of this study are that WSTF acts as an activator of ER signaling in MCF-7 breast cancer cells, that this action can be inhibited by 1alpha,25-dihydroxyvitamin D3, and that the expression of WSTF is higher in breast cancer tissue than in normal tissue. WSTF may by a new target for treatment of estrogen-dependent breast cancer cell growth. (PMID:28610873)
• promotes recovery after DNA damage, in part by recruiting SMARCA5 to damaged chromatin (PMID:29021563)
• Study revealed a novel component of the chromosome scaffold, BAZ1B, which was localized to the mitotic chromosome axis. Using BAZ1A/B double- knockout cells, results suggest that BAZ1 proteins are essential for timely chromosome condensation at mitosis entry. (PMID:30266865)
• Authors propose that the WSTF-H2AX-RNAPII axis regulates transcription and transcription-coupled homologous recombination repair to maintain genome integrity. (PMID:31045206)
• a modern-specific enrichment for regulatory changes both in BAZ1B and its experimentally defined downstream targets, is reported. (PMID:31840056)
• BAZ1B is a candidate gene responsible for hypothyroidism in Williams syndrome. (PMID:32081709)
• The mutational burden and oligogenic inheritance in Klippel-Feil syndrome. (PMID:32278351)
• WSTF acetylation by MOF promotes WSTF activities and oncogenic functions. (PMID:32518374)
• Both variants of A1CF and BAZ1B genes are associated with gout susceptibility: a replication study and meta-analysis in a Japanese population. (PMID:33517564)
• Williams syndrome transcription factor promotes proliferation and invasion of cervical cancer cells by regulating PI3K/Akt signaling pathway. (PMID:34028125)
• Downregulation of Williams syndrome transcription factor (WSTF) suppresses glioblastoma cell growth and invasion by inhibiting PI3K/AKT signal pathway. (PMID:34784707)
• Combinatorial targeting of a chromatin complex comprising Dot1L, menin and the tyrosine kinase BAZ1B reveals a new therapeutic vulnerability of endocrine therapy-resistant breast cancer. (PMID:35850772)

Cross-species orthologs

5 orthologs

Organism	Symbol	Gene ID
danio_rerio	baz1b	ENSDARG00000102832
mus_musculus	Baz1b	ENSMUSG00000002748
rattus_norvegicus	Baz1b	ENSRNOG00000001453
drosophila_melanogaster	tou	FBGN0033636
caenorhabditis_elegans		WBGENE00010199

Paralogs (11): BAZ2A (ENSG00000076108), CECR2 (ENSG00000099954), KAT2A (ENSG00000108773), KAT2B (ENSG00000114166), BAZ2B (ENSG00000123636), BRDT (ENSG00000137948), BRD4 (ENSG00000141867), BRD3 (ENSG00000169925), BPTF (ENSG00000171634), BAZ1A (ENSG00000198604), BRD2 (ENSG00000204256)

Protein

Protein identifiers

Tyrosine-protein kinase BAZ1B — Q9UIG0 (reviewed: Q9UIG0)

Alternative names: Bromodomain adjacent to zinc finger domain protein 1B, Williams syndrome transcription factor, Williams-Beuren syndrome chromosomal region 10 protein, Williams-Beuren syndrome chromosomal region 9 protein, hWALp2

All UniProt accessions (1): Q9UIG0

UniProt curated annotations — full annotation on UniProt →

Function. Atypical tyrosine-protein kinase that plays a central role in chromatin remodeling and acts as a transcription regulator. Involved in DNA damage response by phosphorylating ‘Tyr-142’ of histone H2AX (H2AXY142ph). H2AXY142ph plays a central role in DNA repair and acts as a mark that distinguishes between apoptotic and repair responses to genotoxic stress. Regulatory subunit of the ATP-dependent WICH-1 and WICH-5 ISWI chromatin remodeling complexes, which form ordered nucleosome arrays on chromatin and facilitate access to DNA during DNA-templated processes such as DNA replication, transcription, and repair. Both complexes regulate the spacing of nucleosomes along the chromatin and have the ability to slide mononucleosomes to the center of a DNA template. The WICH-1 ISWI chromatin remodeling complex has a lower ATP hydrolysis rate than the WICH-5 ISWI chromatin remodeling complex. The WICH-5 ISWI chromatin-remodeling complex regulates the transcription of various genes, has a role in RNA polymerase I transcription. Within the B-WICH complex has a role in RNA polymerase III transcription. Mediates the recruitment of the WICH-5 ISWI chromatin remodeling complex to replication foci during DNA replication.

Subunit / interactions. Component of the WICH-1 ISWI chromatin remodeling complex, at least composed of SMARCA1 and BAZ1B/WSTF, which regulates the spacing of histone octamers on the DNA template to facilitate access to DNA. Within the WICH-1 ISWI chromatin remodeling complex interacts with SMARCA1; the interaction is direct. Component of the WICH-5 ISWI chromatin remodeling complex (also called the WICH complex), at least composed of SMARCA5/SNF2H and BAZ1B/WSTF, which regulates the spacing of histone octamers on the DNA template to facilitate access to DNA. Within the WICH-5 ISWI chromatin remodeling complex interacts with SMARCA5/SNF2H; the interaction is direct. Component of the B-WICH chromatin remodeling complex, at least composed of SMARCA5/SNF2H, BAZ1B/WSTF, SF3B1, DEK, MYO1C, ERCC6, MYBBP1A and DDX21. Within the B-WICH chromatin remodeling complex, interacts with SMARCA5/SNF2H, DDX21, DEK, MYBBP1A, SF3B1, ERCC6 and MYO1C. Interacts with PCNA; the interaction is direct and is required for BAZ1B/WSTF binding to replication foci during S phase. Interacts with CDT1.

Subcellular location. Nucleus.

Tissue specificity. Ubiquitously expressed with high levels of expression in heart, brain, placenta, skeletal muscle and ovary.

Disease relevance. BAZ1B is located in the Williams-Beuren syndrome (WBS) critical region. WBS results from a hemizygous deletion of several genes on chromosome 7q11.23, thought to arise as a consequence of unequal crossing over between highly homologous low-copy repeat sequences flanking the deleted region. Haploinsufficiency of BAZ1B may be the cause of certain cardiovascular and musculo-skeletal abnormalities observed in the disease.

Similarity. Belongs to the WAL family. BAZ1B subfamily.

Isoforms (2)

UniProt ID	Names	Canonical?
Q9UIG0-1	1	yes
Q9UIG0-2	2

RefSeq proteins (2): NP_001357331, NP_115784* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001487	Bromodomain	Domain
IPR001841	Znf_RING	Domain
IPR001965	Znf_PHD	Domain
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR013136	WSTF_Acf1_Cbp146	Domain
IPR018359	Bromodomain_CS	Conserved_site
IPR018501	DDT_dom	Domain
IPR019786	Zinc_finger_PHD-type_CS	Conserved_site
IPR019787	Znf_PHD-finger	Domain
IPR028941	WHIM2_dom	Domain
IPR028942	WHIM1_dom	Domain
IPR036427	Bromodomain-like_sf	Homologous_superfamily
IPR037375	BAZ1B_Bromo	Domain
IPR047174	BAZ1B	Family
IPR047256	BAZ1B_PHD	Domain

Pfam: PF00439, PF00628, PF10537, PF15612, PF15613

Catalyzed reactions (Rhea), 1 shown:

• L-tyrosyl-[protein] + ATP = O-phospho-L-tyrosyl-[protein] + ADP + H(+) (RHEA:10596)

UniProt features (63 total): modified residue 19, compositionally biased region 8, region of interest 7, sequence conflict 7, cross-link 6, coiled-coil region 4, domain 3, turn 3, chain 1, short sequence motif 1, zinc finger region 1, splice variant 1, mutagenesis site 1, helix 1

Structure

Experimental structures (PDB)

2 structures.

PDB	Method	Resolution (Å)
5NNF	X-RAY DIFFRACTION	1.15
1F62	SOLUTION NMR

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q9UIG0-F1	69.55	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.

Post-translational modifications (25): 152, 158, 161, 266, 330, 345, 347, 349, 361, 374, 699, 705, 708, 716, 947, 1315, 1335, 1342, 1468, 826 …

Mutagenesis-validated functional residues (1):

Position	Phenotype
338	loss of tyrosine-protein kinase activity.

Function

Pathways and Gene Ontology

Reactome pathways

8 pathways

ID	Pathway
R-HSA-5250924	B-WICH complex positively regulates rRNA expression
R-HSA-5693565	Recruitment and ATM-mediated phosphorylation of repair and signaling proteins at DNA double strand breaks
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-5250913	Positive epigenetic regulation of rRNA expression
R-HSA-5693532	DNA Double-Strand Break Repair
R-HSA-5693606	DNA Double Strand Break Response
R-HSA-73894	DNA Repair
R-HSA-74160	Gene expression (Transcription)

MSigDB gene sets: 682 (showing top): GOBP_CHROMOSOME_ORGANIZATION, MORF_DNMT1, MORF_ESPL1, MORF_BUB1, STARK_PREFRONTAL_CORTEX_22Q11_DELETION_DN, MORF_RRM1, GOBP_TRANSCRIPTION_BY_RNA_POLYMERASE_III, MORF_HDAC2, CACCAGC_MIR138, GOBP_CHROMOSOME_CONDENSATION, AGGCACT_MIR5153P, GOBP_NEGATIVE_REGULATION_OF_CELLULAR_COMPONENT_ORGANIZATION, PUJANA_CHEK2_PCC_NETWORK, GOCC_NUCLEAR_REPLICATION_FORK, ONKEN_UVEAL_MELANOMA_UP

GO Biological Process (9): chromatin remodeling (GO:0006338), regulation of transcription by RNA polymerase II (GO:0006357), DNA damage response (GO:0006974), post-translational protein modification (GO:0043687), positive regulation of transcription by RNA polymerase I (GO:0045943), positive regulation of transcription by RNA polymerase II (GO:0045944), positive regulation of transcription by RNA polymerase III (GO:0045945), negative regulation of mitotic chromosome condensation (GO:1905213), chromatin organization (GO:0006325)

GO Molecular Function (12): non-membrane spanning protein tyrosine kinase activity (GO:0004715), ATP binding (GO:0005524), zinc ion binding (GO:0008270), histone kinase activity (GO:0035173), histone binding (GO:0042393), histone H2AXY142 kinase activity (GO:0140801), nucleotide binding (GO:0000166), protein tyrosine kinase activity (GO:0004713), protein binding (GO:0005515), kinase activity (GO:0016301), transferase activity (GO:0016740), metal ion binding (GO:0046872)

GO Cellular Component (9): condensed chromosome (GO:0000793), nucleus (GO:0005634), nucleoplasm (GO:0005654), pericentric heterochromatin (GO:0005721), nucleolus (GO:0005730), WICH complex (GO:0090535), B-WICH complex (GO:0110016), chromatin (GO:0000785), nuclear replication fork (GO:0043596)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Positive epigenetic regulation of rRNA expression	1
DNA Double Strand Break Response	1
Gene expression (Transcription)	1
Epigenetic regulation of gene expression	1
DNA Repair	1
DNA Double-Strand Break Repair	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
positive regulation of DNA-templated transcription	3
transcription by RNA polymerase II	2
protein tyrosine kinase activity	2
protein kinase activity	2
chromosome	2
nuclear lumen	2
cellular anatomical structure	2
chromatin organization	1
regulation of DNA-templated transcription	1
cellular response to stress	1
protein modification process	1
regulation of transcription by RNA polymerase I	1
transcription by RNA polymerase I	1
regulation of transcription by RNA polymerase II	1
regulation of transcription by RNA polymerase III	1
transcription by RNA polymerase III	1
mitotic chromosome condensation	1
negative regulation of cell cycle process	1
negative regulation of chromosome condensation	1
regulation of mitotic chromosome condensation	1
cellular component organization	1
adenyl ribonucleotide binding	1
purine ribonucleoside triphosphate binding	1
transition metal ion binding	1
histone modifying activity	1
protein binding	1
histone H2AX kinase activity	1
nucleoside phosphate binding	1
heterocyclic compound binding	1
binding	1
transferase activity, transferring phosphorus-containing groups	1
catalytic activity	1
cation binding	1
intracellular membrane-bounded organelle	1
chromosome, centromeric region	1
heterochromatin	1
intracellular membraneless organelle	1
ISWI-type complex	1
nucleolus	1
SWI/SNF superfamily-type complex	1

Protein interactions and networks

STRING

1876 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
BAZ1B	SMARCA5	O60264	999
BAZ1B	SMARCA1	P28370	987
BAZ1B	GTF2IRD1	Q9UHL9	782
BAZ1B	FZD9	O00144	760
BAZ1B	TBL2	Q9Y4P3	759
BAZ1B	RSF1	Q96T23	759
BAZ1B	EIF4H	Q15056	736
BAZ1B	SMARCC1	Q92922	718
BAZ1B	BCL7B	Q9BQE9	718
BAZ1B	CHRAC1	Q9NRG0	714
BAZ1B	FKBP6	O75344	709
BAZ1B	POLE3	Q9NRF9	699
BAZ1B	FKBP10	Q96AY3	688
BAZ1B	SMARCA4	P51532	660
BAZ1B	CLIP2	Q9UDT6	659
BAZ1B	ARID1A	O14497	659

IntAct

134 interactions, top by confidence:

A	B	Type	Score
BAZ1B	SMARCA5	psi-mi:“MI:0915”(physical association)	0.810
BAZ1B	SMARCA5	psi-mi:“MI:0914”(association)	0.810
SMARCA5	BAZ1B	psi-mi:“MI:0915”(physical association)	0.810
SMARCA5	BAZ1A	psi-mi:“MI:0914”(association)	0.720
KPNA1	TCERG1	psi-mi:“MI:0914”(association)	0.640
ASF1B	HAT1	psi-mi:“MI:0914”(association)	0.640
NPM1	MPHOSPH10	psi-mi:“MI:0914”(association)	0.610
BAZ1B	SMARCA1	psi-mi:“MI:0915”(physical association)	0.560
BAZ1B	H1-4	psi-mi:“MI:0915”(physical association)	0.560
BAZ1B	H1-2	psi-mi:“MI:0915”(physical association)	0.560
SMARCA5	RBBP4	psi-mi:“MI:0914”(association)	0.530
ZC3HAV1	KHNYN	psi-mi:“MI:0914”(association)	0.530
APOOL	MTX2	psi-mi:“MI:0914”(association)	0.530
DAXX	TNRC18	psi-mi:“MI:0914”(association)	0.530
MAGEB2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
RPL13	RRP8	psi-mi:“MI:0914”(association)	0.530
DDX21	MED19	psi-mi:“MI:2364”(proximity)	0.480
NPM1	WDR46	psi-mi:“MI:0914”(association)	0.480
H3C1	SMCHD1	psi-mi:“MI:2364”(proximity)	0.410
BAZ1B	H2BC9	psi-mi:“MI:0915”(physical association)	0.400
BAZ1B	LYAR	psi-mi:“MI:0915”(physical association)	0.400
BAZ1A	BAZ1B	psi-mi:“MI:0915”(physical association)	0.400
BAZ1B	Smarca5	psi-mi:“MI:0915”(physical association)	0.400
Eif3a	RPSA	psi-mi:“MI:0914”(association)	0.350
Set	ZKSCAN1	psi-mi:“MI:0914”(association)	0.350
HNRNPU		psi-mi:“MI:0914”(association)	0.350

BioGRID (305): BAZ1B (Affinity Capture-MS), BAZ1B (Affinity Capture-MS), BAZ1B (Affinity Capture-MS), BAZ1B (Affinity Capture-MS), BAZ1B (Affinity Capture-MS), BAZ1B (Reconstituted Complex), BAZ1B (Affinity Capture-RNA), BAZ1B (Affinity Capture-MS), BAZ1B (Affinity Capture-MS), BAZ1B (Affinity Capture-MS), BAZ1B (Affinity Capture-MS), BAZ1B (Affinity Capture-MS), BAZ1B (Affinity Capture-MS), BAZ1B (Affinity Capture-MS), BAZ1B (Affinity Capture-MS)

ESM2 similar proteins: A0A1B0GVH7, A6PVS8, A8DZJ1, A9Q751, D3ZSP7, D4AEC2, Q08AD1, Q08CX2, Q14DL3, Q2T9P0, Q2TA00, Q32KQ1, Q3UZ57, Q3V0J4, Q4G0U5, Q4R7B1, Q4R7Z7, Q5S003, Q5SUV2, Q5T1B0, Q5ZLS8, Q63164, Q66HC0, Q69CM7, Q6AXP3, Q6AYL8, Q6IRN6, Q6NXP0, Q6Q759, Q80X60, Q86WZ0, Q8C1B1, Q8C4J0, Q8C636, Q8CDN1, Q8CDU5, Q8IWF9, Q8N7B9, Q8N7U6, Q8ND61

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

7 interactions.

A	Effect	B	Mechanism
BAZ1B	down-regulates	MDC1
BAZ1B	up-regulates	H2AX	phosphorylation
MAPK14	up-regulates	BAZ1B	phosphorylation
MAPK3	up-regulates	BAZ1B	phosphorylation
MAPK9	up-regulates	BAZ1B	phosphorylation
BAZ1B	“form complex”	“B-WICH complex”	binding
BAZ1B	“form complex”	WICH	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 167 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
Eukaryotic Translation Initiation	5	14.2×	6e-04
Cap-dependent Translation Initiation	5	14.2×	6e-04
SARS-CoV-1 modulates host translation machinery	5	14.2×	6e-04
Eukaryotic Translation Elongation	5	12.8×	7e-04
Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	5	12.5×	8e-04
Formation of the ternary complex, and subsequently, the 43S complex	6	11.9×	6e-04
Influenza Infection	7	11.3×	5e-04
Nonsense-Mediated Decay (NMD)	5	10.7×	1e-03

GO biological processes:

GO term	Partners	Fold	FDR
heterochromatin formation	9	15.6×	2e-06
nucleosome assembly	15	14.3×	1e-10
ribosomal small subunit biogenesis	8	12.4×	4e-05
rRNA processing	12	11.6×	2e-07
cytoplasmic translation	8	10.1×	2e-04
cell surface receptor protein tyrosine kinase signaling pathway	8	9.4×	2e-04
chromatin organization	11	7.4×	4e-05
RNA splicing	10	6.0×	6e-04

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	3
Likely pathogenic	0
Uncertain significance	148
Likely benign	34
Benign	5

Top pathogenic / likely-pathogenic (3)

Variant ID	HGVS	Classification
146545	GRCh38/hg38 7q11.22-11.23(chr7:71461127-73614730)x1	Pathogenic
160822	GRCh38/hg38 7q11.23(chr7:73352304-74719013)x3	Pathogenic
1706524	GRCh37/hg19 7q11.23(chr7:72718277-74142190)x1	Pathogenic

SpliceAI

4134 predictions. Top by Δscore:

Variant	Effect	Δscore
7:73442720:CTCA:C	donor_loss	1.0000
7:73442722:CA:C	donor_loss	1.0000
7:73442723:A:AC	donor_gain	1.0000
7:73442723:A:AG	donor_loss	1.0000
7:73442724:C:CC	donor_gain	1.0000
7:73442724:C:T	donor_loss	1.0000
7:73442824:AGCAC:A	acceptor_gain	1.0000
7:73442825:GCAC:G	acceptor_gain	1.0000
7:73442826:CAC:C	acceptor_gain	1.0000
7:73442826:CACC:C	acceptor_gain	1.0000
7:73442827:AC:A	acceptor_gain	1.0000
7:73442828:CC:C	acceptor_gain	1.0000
7:73442829:C:CC	acceptor_gain	1.0000
7:73442829:C:T	acceptor_gain	1.0000
7:73442833:C:CT	acceptor_gain	1.0000
7:73442834:A:T	acceptor_gain	1.0000
7:73443983:CCAG:C	donor_gain	1.0000
7:73447259:CTT:C	donor_loss	1.0000
7:73447260:TTA:T	donor_loss	1.0000
7:73447261:TA:T	donor_loss	1.0000
7:73447262:A:AC	donor_gain	1.0000
7:73447262:A:C	donor_loss	1.0000
7:73447262:ACAT:A	donor_gain	1.0000
7:73447263:C:CA	donor_gain	1.0000
7:73447263:CA:C	donor_gain	1.0000
7:73447263:CAT:C	donor_gain	1.0000
7:73447263:CATC:C	donor_gain	1.0000
7:73447263:CATCG:C	donor_gain	1.0000
7:73447293:T:TA	donor_gain	1.0000
7:73447375:AGTTC:A	acceptor_gain	1.0000

AlphaMissense

9835 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
7:73442437:A:G	F1404S	1.000
7:73449577:G:C	C1231W	1.000
7:73449578:C:G	C1231S	1.000
7:73449578:C:T	C1231Y	1.000
7:73449579:A:G	C1231R	1.000
7:73449579:A:T	C1231S	1.000
7:73449586:G:C	C1228W	1.000
7:73449587:C:G	C1228S	1.000
7:73449587:C:T	C1228Y	1.000
7:73449588:A:G	C1228R	1.000
7:73449588:A:T	C1228S	1.000
7:73449592:C:A	W1226C	1.000
7:73449592:C:G	W1226C	1.000
7:73449593:C:G	W1226S	1.000
7:73449594:A:G	W1226R	1.000
7:73449594:A:T	W1226R	1.000
7:73449623:G:T	P1216Q	1.000
7:73449624:G:A	P1216S	1.000
7:73449625:C:A	R1215S	1.000
7:73449625:C:G	R1215S	1.000
7:73449626:C:A	R1215M	1.000
7:73449626:C:G	R1215T	1.000
7:73449627:T:C	R1215G	1.000
7:73449629:A:G	L1214P	1.000
7:73449629:A:T	L1214Q	1.000
7:73449631:A:C	C1213W	1.000
7:73449632:C:A	C1213F	1.000
7:73449632:C:G	C1213S	1.000
7:73449632:C:T	C1213Y	1.000
7:73449633:A:C	C1213G	1.000

dbSNP variants (sampled 300 via entrez): RS1000012249 (7:73501952 G>A), RS1000048577 (7:73501684 C>A,G), RS1000117317 (7:73461062 G>A), RS1000299739 (7:73443742 C>A), RS1000316391 (7:73456182 A>G), RS1000397834 (7:73491411 C>T), RS1000491843 (7:73449825 T>G), RS1000632474 (7:73445001 T>A), RS1000656180 (7:73496962 C>T), RS1000728618 (7:73492374 G>A), RS1000775079 (7:73451858 C>A,G), RS1000945577 (7:73522437 C>T), RS1000956666 (7:73486879 T>C), RS1000976774 (7:73522276 C>G,T), RS1001021501 (7:73511668 A>G)

Disease associations

OMIM: gene MIM:605681 | disease phenotypes: MIM:194050

GenCC curated gene-disease

Disease	Classification	Inheritance
autism spectrum disorder	Limited	Autosomal dominant

Mondo (3): Williams syndrome (MONDO:0008678), syndromic intellectual disability (MONDO:0000508), autism spectrum disorder (MONDO:0005258)

Orphanet (2): Williams syndrome (Orphanet:904), Rare genetic syndromic intellectual disability (Orphanet:183763)

HPO phenotypes

186 total (30 of 186 shown, HPO-id order):

HPO	Term
HP:0000010	Recurrent urinary tract infections
HP:0000014	Abnormality of the bladder
HP:0000015	Bladder diverticulum
HP:0000023	Inguinal hernia
HP:0000025	Functional abnormality of male internal genitalia
HP:0000028	Cryptorchidism
HP:0000044	Hypogonadotropic hypogonadism
HP:0000075	Renal duplication
HP:0000076	Vesicoureteral reflux
HP:0000083	Renal insufficiency
HP:0000089	Renal hypoplasia
HP:0000093	Proteinuria
HP:0000121	Nephrocalcinosis
HP:0000125	Pelvic kidney
HP:0000147	Polycystic ovaries
HP:0000154	Wide mouth
HP:0000158	Macroglossia
HP:0000179	Thick lower lip vermilion
HP:0000212	Gingival overgrowth
HP:0000232	Everted lower lip vermilion
HP:0000252	Microcephaly
HP:0000275	Narrow face
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000307	Pointed chin
HP:0000337	Broad forehead
HP:0000343	Long philtrum
HP:0000347	Micrognathia
HP:0000348	High forehead
HP:0000358	Posteriorly rotated ears

GWAS associations

31 associations (top):

Study	Trait	p-value
GCST000780_1	Protein C levels	3.000000e-08
GCST000809_10	Triglycerides	2.000000e-12
GCST001791_44	Urate levels	1.000000e-12
GCST001905_7	Hypertriglyceridemia	2.000000e-06
GCST003680_2	C-reactive protein levels or HDL-cholesterol levels (pleiotropy)	1.000000e-13
GCST003986_20	Migraine	3.000000e-08
GCST004567_85	Waist-to-hip ratio adjusted for BMI (joint analysis for main effect and physical activity interaction)	2.000000e-08
GCST004576_7	Waist-to-hip ratio adjusted for body mass index	1.000000e-08
GCST005024_56	Pursuit maintenance gain	2.000000e-06
GCST007725_37	Serum uric acid levels	2.000000e-07
GCST007916_7	Hyperuricemia	2.000000e-16
GCST009602_41	Metabolic syndrome	8.000000e-22
GCST010133_5	Lamb consumption	5.000000e-09
GCST010134_3	Non-oily fish consumption	3.000000e-09
GCST010143_15	Meat-related diet	4.000000e-08
GCST010143_21	Meat-related diet	3.000000e-11
GCST010244_5	Triglyceride levels	0.000000e+00
GCST010637_13	Urate levels	5.000000e-14
GCST010725_13	Malaria	8.000000e-06
GCST010725_74	Malaria	6.000000e-06
GCST010725_91	Malaria	7.000000e-06
GCST011353_45	Serum alkaline phosphatase levels	1.000000e-10
GCST011925_1	Triglyceride levels x fish oil supplementation interaction (2df)	4.000000e-16
GCST012232_17	Lipoprotein (a) levels	2.000000e-10
GCST90002402_21	Platelet count	2.000000e-13
GCST90020025_1108	Waist-to-hip ratio adjusted for BMI	5.000000e-09
GCST90020025_1110	Waist-to-hip ratio adjusted for BMI	5.000000e-12
GCST90020026_564	Hip index	1.000000e-09
GCST90020026_565	Hip index	1.000000e-10
GCST90020027_1390	Waist-hip index	5.000000e-09

EFO canonical traits (17, from GWAS)

EFO ID	Trait name
EFO:0004633	protein C measurement
EFO:0004530	triglyceride measurement
EFO:0004531	urate measurement
EFO:0004458	C-reactive protein measurement
EFO:0004612	high density lipoprotein cholesterol measurement
EFO:0007788	BMI-adjusted waist-hip ratio
EFO:0008002	physical activity measurement
EFO:0008433	pursuit maintenance gain measurement
EFO:0004761	uric acid measurement
EFO:0009104	hyperuricemia
EFO:0000195	metabolic syndrome
EFO:0008111	diet measurement
EFO:0004533	alkaline phosphatase measurement
EFO:0600007	fish oil supplement exposure measurement
EFO:0006925	lipoprotein A measurement
EFO:0004309	platelet count
EFO:0008039	BMI-adjusted hip circumference

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
D018980	Williams Syndrome	C10.597.606.360.970; C14.280.484.048.750.535.960; C16.131.260.970; C16.320.180.970

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL3588730 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
bisphenol A	increases methylation, decreases expression	2
aristolochic acid I	decreases expression	1
FR900359	affects phosphorylation	1
TAK-243	decreases sumoylation	1
2,4,6-tribromophenol	decreases expression	1
triphenyl phosphate	affects expression	1
deoxynivalenol	increases expression	1
geraniol	decreases expression	1
sodium arsenate	decreases expression	1
decabromobiphenyl ether	decreases expression	1
sodium arsenite	decreases expression	1
tetrabromobisphenol A	increases expression	1
coumarin	affects phosphorylation	1
di-n-butylphosphoric acid	affects expression	1
perfluorooctane sulfonic acid	increases expression	1
pentabrominated diphenyl ether 100	increases expression	1
hexabrominated diphenyl ether 153	increases expression	1
bis-N,N-dimethylamino-2-(N-methylpyrrolyl)methyl cyclopentadienyl titanium (IV)	decreases expression	1
Sunitinib	increases expression	1
Aspirin	decreases expression	1
Atrazine	decreases expression	1
Benztropine	affects cotreatment, decreases expression	1
Caffeine	decreases phosphorylation	1
Cannabidiol	decreases expression, affects cotreatment	1
Clozapine	decreases expression, affects cotreatment	1
Cuprizone	affects cotreatment, decreases expression	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Ivermectin	decreases expression	1
Polychlorinated Biphenyls	affects expression	1
Ribonucleotides	affects binding	1

ChEMBL screening assays

12 unique, capped per target: 12 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL3591385	Binding	Binding affinity to BAZ1B in human HUT78 cells incubated for 45 mins by mass spectrometry based bromosphere chemoproteomic assay	Structure-Based Optimization of Naphthyridones into Potent ATAD2 Bromodomain Inhibitors. — J Med Chem

Cellosaurus cell lines

2 cell lines: 2 cancer cell line

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

Cellosaurus	Name	Category	Sex
CVCL_B1L1	Abcam HeLa BAZ1B KO	Cancer cell line	Female
CVCL_SE72	HAP1 BAZ1B (-)	Cancer cell line	Male

Clinical trials (associated diseases)

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

Trial	Phase	Status	Title
NCT00391261	PHASE4	COMPLETED	An Open-label Trial of Metformin for Weight Control of Pediatric Patients on Antipsychotic Medications.
NCT01028820	PHASE4	COMPLETED	FMRI Brain Activation of Aripiprazole Treatment in Autism Spectrum Disorders
NCT01333865	PHASE4	COMPLETED	A Study of Memantine Hydrochloride (Namenda®) for Cognitive and Behavioral Impairment in Adults With Autism Spectrum Disorders
NCT01337700	PHASE4	COMPLETED	Milnacipran in Autism and the Functional Locus Coeruleus and Noradrenergic Model of Autism
NCT01695200	PHASE4	COMPLETED	Omega-3 Fatty Acids in Autism Spectrum Disorders
NCT02096952	PHASE4	COMPLETED	Methylphenidate ER Liquid Formulation in Adults With ASD and ADHD
NCT02235467	PHASE4	COMPLETED	Multisite Study: Parental Training Using Video Modelling to Develop Social Skills in Children With Autism
NCT02940574	PHASE4	COMPLETED	Neural and Behavioral Effects of Oxytocin in Autism Spectrum Disorders
NCT03333629	PHASE4	COMPLETED	Promoting Positive Outcomes for Individuals With ASD: Linking Early Detection, Treatment, and Long-term Outcomes
NCT03337646	PHASE4	COMPLETED	Evaluation of the Effect and Safety of Lisdexamfetamine in Children Aged 6-12 With ADHD and Autism
NCT03538431	PHASE4	COMPLETED	Improving Driving in Young People With Autism Spectrum Disorders
NCT03757585	PHASE4	COMPLETED	Natural Treatments for the Management of Emotional Dysregulation in Youth With Non-verbal Learning Disability (NVLD) and/or Autism Spectrum Disorders (ASD)
NCT04903353	PHASE4	COMPLETED	Pragmatic Trial Comparing Weight Gain in Children With Autism Taking Risperidone Versus Aripiprazole
NCT05063656	PHASE4	COMPLETED	Biomarker-Driven Pharmacological Treatment of Adolescents With Autism Spectrum Disorder With Gabapentin
NCT05146245	PHASE4	UNKNOWN	Safety and Pharmacokinetics of Antipsychotics in Children 2: Studying TDM in an RCT
NCT05916339	PHASE4	RECRUITING	AWARE: Management of ADHD in Autism Spectrum Disorder
NCT05954052	PHASE4	TERMINATED	A Study of Glutathione in Children With Autism Spectrum Disorder
NCT06853665	PHASE4	RECRUITING	The TEAM Study - Treatment Efficacy for Autism/Attention Using Mixed Amphetamine
NCT07054697	PHASE4	COMPLETED	Pilot-RCT With Individualized Homeopathic Treatment in the Children With Autism Spectrum Disorder
NCT07161804	PHASE4	COMPLETED	Pilot RCT Using Homeopathic Medicines in ASD
NCT07439042	PHASE4	NOT_YET_RECRUITING	Buspirone for Anxiety in Autistic Youth
NCT00768820	PHASE4	RECRUITING	The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
NCT04807517	PHASE4	COMPLETED	Buspirone Treatment of Anxiety in Williams Syndrome
NCT01302964	PHASE3	COMPLETED	Mirtazapine Treatment of Anxiety in Children and Adolescents With Pervasive Developmental Disorders
NCT01706523	PHASE3	TERMINATED	Open Label Extension Study of STX209 (Arbaclofen) in Autism Spectrum Disorders
NCT01825798	PHASE3	COMPLETED	Treatment of Overweight Induced by Antipsychotic Medication in Young People With Autism Spectrum Disorders (ASD)
NCT01972074	PHASE3	COMPLETED	Behavioral and Neural Response to Memantine in Adolescents With Autism Spectrum Disorder
NCT02985749	PHASE3	COMPLETED	A Study of Oxytocin for the Treatment of Social Impairment in Individuals With High Functioning Autism Spectrum Disorder
NCT03197922	PHASE3	COMPLETED	Treatment of Encopresis in Children With Autism Spectrum Disorders
NCT03504917	PHASE3	TERMINATED	A Study of Balovaptan in Adults With Autism Spectrum Disorder With a 2-Year Open-Label Extension
NCT03553875	PHASE3	TERMINATED	Memantine for the Treatment of Social Deficits in Youth With Disorders of Impaired Social Interactions
NCT03640156	PHASE3	COMPLETED	Modulating Socially Adaptive Mirror System Functioning in Autism by Oxytocin
NCT03715153	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children Aged From 2 to Less Than 7 Years Old With Autism Spectrum Disorder.
NCT03715166	PHASE3	TERMINATED	Efficacy and Safety of Bumetanide Oral Liquid Formulation in Children and Adolescents Aged From 7 to Less Than 18 Years Old With Autism Spectrum Disorder
NCT04233502	PHASE3	WITHDRAWN	Efficacy and Safety of Slenyto for Insomnia in Children With ASD
NCT04578756	PHASE3	COMPLETED	Open-Label, Flexible-dose Study to Evaluate the Long-Term Safety and Tolerability of Cariprazine in the Treatment of Pediatric Participants With Schizophrenia, Bipolar I Disorder, or Autism Spectrum Disorder
NCT04623398	PHASE3	COMPLETED	Effect of Lithium in Patients With Autism Spectrum Disorder and Phelan-McDermid Syndrome (SHANK3 Haploinsufficiency)
NCT04725383	PHASE3	TERMINATED	Amitriptyline for Repetitive Behaviors in Autism Spectrum Disorders
NCT05212493	PHASE3	COMPLETED	The Effects of Medical Cannabis in Children With Autistic Spectrum Disorder
NCT05361707	PHASE3	UNKNOWN	Evaluating the Effects of Tasimelteon in Individuals With Autism Spectrum Disorder (ASD) and Sleep Disturbances