TAF1B

Summary

TAF1B (TATA-box binding protein associated factor, RNA polymerase I subunit B, HGNC:11533) is a protein-coding gene on chromosome 2p25.1, encoding TATA box-binding protein-associated factor RNA polymerase I subunit B (Q53T94). Component of RNA polymerase I core factor complex that acts as a GTF2B/TFIIB-like factor and plays a key role in multiple steps during transcription initiation such as pre-initiation complex (PIC) assembly and postpolymerase recruitment events in polymerase I (Pol I) transcripti…. It is a selective cancer dependency (DepMap: 85.5% of cell lines).

Initiation of transcription by RNA polymerase I requires the formation of a complex composed of the TATA-binding protein (TBP) and three TBP-associated factors (TAFs) specific for RNA polymerase I. This complex, known as SL1, binds to the core promoter of ribosomal RNA genes to position the polymerase properly and acts as a channel for regulatory signals. This gene encodes one of the SL1-specific TAFs. Multiple transcript variants encoding different isoforms have been found for this gene.

Source: NCBI Gene 9014 — RefSeq curated summary.

At a glance

• GWAS associations: 6
• Clinical variants (ClinVar): 94 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 85.5% of screened cell lines
• MANE Select transcript: NM_005680

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11533
Approved symbol	TAF1B
Name	TATA-box binding protein associated factor, RNA polymerase I subunit B
Location	2p25.1
Locus type	gene with protein product
Status	Approved
Aliases	TAFI63, SL1, RAF1B, RAFI63
Ensembl gene	ENSG00000115750
Ensembl biotype	protein_coding
OMIM	604904
Entrez	9014

Gene structure

Transcript identifiers

Ensembl transcripts: 12 — 5 protein_coding_CDS_not_defined, 4 protein_coding, 2 nonsense_mediated_decay, 1 retained_intron

ENST00000263663, ENST00000402170, ENST00000404869, ENST00000416181, ENST00000434858, ENST00000469895, ENST00000480197, ENST00000490432, ENST00000492648, ENST00000497182, ENST00000625239, ENST00000944452

RefSeq mRNA: 3 — MANE Select: NM_005680 NM_001318976, NM_001318977, NM_005680

CCDS: CCDS33143

Canonical transcript exons

ENST00000263663 — 15 exons

Exon	Start	End
ENSE00000709686	9875865	9876018
ENSE00001172126	9843474	9843559
ENSE00001908972	9933783	9934416
ENSE00003483114	9868276	9868429
ENSE00003517987	9919041	9919111
ENSE00003594126	9845220	9845318
ENSE00003595157	9854326	9854421
ENSE00003624838	9913159	9913249
ENSE00003640145	9919598	9919820
ENSE00003651622	9849373	9849460
ENSE00003675901	9851541	9851638
ENSE00003694921	9911511	9911557
ENSE00003696297	9910736	9910913
ENSE00003700455	9904859	9905006
ENSE00003701999	9882706	9882805

Expression profiles

Bgee: expression breadth ubiquitous, 256 present calls, max score 90.26.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 20.2966 / max 148.2364, expressed in 1800 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
18786	19.6076	1799
18787	0.6891	451

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	90.26	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.26	gold quality
adrenal tissue	UBERON:0018303	88.91	gold quality
calcaneal tendon	UBERON:0003701	87.74	gold quality
buccal mucosa cell	CL:0002336	85.57	silver quality
ventricular zone	UBERON:0003053	85.30	gold quality
monocyte	CL:0000576	84.84	gold quality
mononuclear cell	CL:0000842	84.53	gold quality
leukocyte	CL:0000738	84.33	gold quality
lower esophagus mucosa	UBERON:0035834	83.88	gold quality
islet of Langerhans	UBERON:0000006	83.61	gold quality
stromal cell of endometrium	CL:0002255	82.93	gold quality
esophagus mucosa	UBERON:0002469	82.74	gold quality
secondary oocyte	CL:0000655	82.58	gold quality
olfactory segment of nasal mucosa	UBERON:0005386	81.89	gold quality
ganglionic eminence	UBERON:0004023	81.83	gold quality
cortical plate	UBERON:0005343	81.75	gold quality
vagina	UBERON:0000996	81.23	gold quality
skin of abdomen	UBERON:0001416	80.94	gold quality
ectocervix	UBERON:0012249	80.37	gold quality
gall bladder	UBERON:0002110	80.36	gold quality
skin of leg	UBERON:0001511	79.65	gold quality
omental fat pad	UBERON:0010414	79.55	gold quality
peritoneum	UBERON:0002358	79.52	gold quality
lymph node	UBERON:0000029	79.22	gold quality
colonic epithelium	UBERON:0000397	79.01	gold quality
adipose tissue of abdominal region	UBERON:0007808	78.92	gold quality
esophagus	UBERON:0001043	78.87	gold quality
zone of skin	UBERON:0000014	78.70	gold quality
granulocyte	CL:0000094	78.64	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-7381	no	521.15
E-ANND-3	no	0.00

Regulation

Is transcription factor: no

Upstream regulators (CollecTRI, top): TBP, UBTF

miRNA regulators (miRDB)

42 targeting TAF1B, 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-5011-5P	100.00	83.46	5820
HSA-LET-7F-1-3P	100.00	74.02	3928
HSA-LET-7A-3P	100.00	74.03	3932
HSA-LET-7B-3P	100.00	74.08	3913
HSA-MIR-98-3P	100.00	74.08	3907
HSA-MIR-4668-3P	100.00	68.74	2635
HSA-MIR-186-5P	99.99	70.83	3707
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-4666A-3P	99.96	71.71	3434
HSA-MIR-551B-5P	99.96	71.28	3493
HSA-MIR-1-3P	99.93	72.35	1914
HSA-MIR-206	99.93	72.50	1893
HSA-MIR-338-5P	99.92	72.34	2951
HSA-MIR-6809-3P	99.91	71.45	3814
HSA-MIR-613	99.91	71.50	1710
HSA-MIR-4495	99.82	72.08	3080
HSA-MIR-3180-5P	99.82	69.12	2422
HSA-MIR-1299	99.77	71.24	2389
HSA-MIR-1179	99.71	68.70	1040
HSA-MIR-5580-3P	99.70	69.41	2052
HSA-MIR-1284	99.67	73.56	1353
HSA-MIR-8064	99.45	66.92	875
HSA-MIR-330-3P	99.41	69.95	2521
HSA-MIR-6507-5P	99.36	70.46	2524
HSA-MIR-6128	99.33	67.83	1581
HSA-MIR-7515	99.31	68.22	1795
HSA-MIR-3191-5P	99.24	66.52	1722
HSA-MIR-146A-3P	99.13	68.99	1881
HSA-MIR-6506-5P	99.04	65.66	1386
HSA-MIR-330-5P	98.73	67.63	1788

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 85.5% of screened cell lines.

Literature-anchored findings (GeneRIF, showing 6)

• Identification of MARCKS, FLJ11383 and TAF1B as putative novel target genes in colorectal carcinomas with microsatellite instability. (PMID:12140758)
• The four most frequently mutated genes in colorectal cancers with microsatellite instability were ACVR2 (92%), TAF1B (84%), ASTE1/HT001 (80%) and TGFBR2 (77%). (PMID:19503063)
• findings show that Rrn7, a subunit of the yeast Pol I core factor, and its human ortholog TAF1B are TFIIB-like factors (PMID:21921198)
• TAF1B, a subunit of SL1, is structurally related to TFIIB/TFIIB-like proteins; SL1, essential for Pol I recruitment to rRNA gene promoter, also has an essential postpolymerase recruitment role, operating through TAF1B (PMID:21921199)
• hCdc14B promotes reactivation of rDNA transcription by dephosphorylating TAFI110. SIRT1 becomes transiently enriched in nucleoli at the onset of mitosis. SIRT1 deacetylates TAFI68 destabilizing SL1 binding to the rDNA promoter (PMID:26023773)
• AEP coactivator complex facilitates the initiation of RNAP2-dependent transcription via SL1 activity by loading TBP onto the TATA element. (PMID:26593443)

Cross-species orthologs

4 orthologs

Organism	Symbol	Gene ID
danio_rerio	taf1b	ENSDARG00000028937
mus_musculus	Taf1b	ENSMUSG00000059669
rattus_norvegicus	Taf1b	ENSRNOG00000061415
drosophila_melanogaster	TAF1B	FBGN0037792

Protein

Protein identifiers

TATA box-binding protein-associated factor RNA polymerase I subunit B — Q53T94 (reviewed: Q53T94)

Alternative names: RNA polymerase I-specific TBP-associated factor 63 kDa, TATA box-binding protein-associated factor 1B, Transcription initiation factor SL1/TIF-IB subunit B

All UniProt accessions (4): Q53T94, F8WDU0, F8WE32, U3KQ75

UniProt curated annotations — full annotation on UniProt →

Function. Component of RNA polymerase I core factor complex that acts as a GTF2B/TFIIB-like factor and plays a key role in multiple steps during transcription initiation such as pre-initiation complex (PIC) assembly and postpolymerase recruitment events in polymerase I (Pol I) transcription. Binds rDNA promoters and plays a role in Pol I recruitment as a component of the SL1/TIF-IB complex and, possibly, directly through its interaction with RRN3.

Subunit / interactions. Interacts with FLNA (via N-terminus). Component of the transcription factor SL1/TIF-IB complex, composed of TBP and at least TAF1A, TAF1B, TAF1C and TAF1D. In the complex interacts directly with TBP, TAF1A and TAF1C. Interaction of the SL1/TIF-IB subunits with TBP excludes interaction of TBP with the transcription factor IID (TFIID) subunits. Interacts with TBP and RRN3. Part of Pol I pre-initiation complex (PIC), in which Pol I core assembles with RRN3 and promoter-bound UTBF and SL1/TIF-IB complex.

Subcellular location. Nucleus. Nucleolus.

Domain organisation. Although it shares weak sequence similarity with GTF2B/TFIIB, displays a similar subdomain organization as GTF2B/TFIIB, with a N-terminal zinc finger, a connecting region (composed of B-reader and B-linker regions), followed by 2 cyclin folds. The RRN7-type zinc finger plays an essential postrecruitment role in Pol I transcription at a step preceding synthesis of the first 40 nucleotides.

Similarity. Belongs to the RRN7/TAF1B family.

Isoforms (3)

UniProt ID	Names	Canonical?
Q53T94-1	1	yes
Q53T94-2	2
Q53T94-3	3

RefSeq proteins (3): NP_001305905, NP_001305906, NP_005671* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR021752	TF_Rrn7_Zf	Domain
IPR033599	TAF1B/Rrn7	Family
IPR048538	Rrn7_cyclin_C	Domain
IPR048540	Rrn7_cyclin_N	Domain

Pfam: PF11781, PF20644, PF20645

UniProt features (26 total): sequence variant 6, region of interest 4, binding site 4, mutagenesis site 3, sequence conflict 3, modified residue 2, splice variant 2, chain 1, zinc finger region 1

Structure

Experimental structures (PDB)

0 structures.

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q53T94-F1	79.35	0.48

Functional residue map

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

Ligand- & substrate-binding residues (4): 13; 16; 31; 34

Post-translational modifications (2): 1, 440

Mutagenesis-validated functional residues (3):

Position	Phenotype
13	abolishes pol i transcription but not recruitment of sl1/tif-ib complex to rdna promoters.
31	abolishes pol i transcription but not recruitment of sl1/tif-ib complex to rdna promoters.
34	abolishes pol i transcription but not recruitment of sl1/tif-ib complex to rdna promoters.

Function

Pathways and Gene Ontology

Reactome pathways

12 pathways

ID	Pathway
R-HSA-427359	SIRT1 negatively regulates rRNA expression
R-HSA-427413	NoRC negatively regulates rRNA expression
R-HSA-5250924	B-WICH complex positively regulates rRNA expression
R-HSA-73762	RNA Polymerase I Transcription Initiation
R-HSA-73772	RNA Polymerase I Promoter Escape
R-HSA-73863	RNA Polymerase I Transcription Termination
R-HSA-212165	Epigenetic regulation of gene expression
R-HSA-5250913	Positive epigenetic regulation of rRNA expression
R-HSA-5250941	Negative epigenetic regulation of rRNA expression
R-HSA-73854	RNA Polymerase I Promoter Clearance
R-HSA-73864	RNA Polymerase I Transcription
R-HSA-74160	Gene expression (Transcription)

MSigDB gene sets: 138 (showing top): chr2p25, REACTOME_RNA_POLYMERASE_I_TRANSCRIPTION_INITIATION, GOBP_RRNA_TRANSCRIPTION, BROWNE_HCMV_INFECTION_14HR_DN, LASTOWSKA_COAMPLIFIED_WITH_MYCN, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, BROWNE_HCMV_INFECTION_24HR_DN, GOBP_PROTEIN_DNA_COMPLEX_ORGANIZATION, RASHI_RESPONSE_TO_IONIZING_RADIATION_5, CHEN_NEUROBLASTOMA_COPY_NUMBER_GAINS, YAGI_AML_WITH_11Q23_REARRANGED, GOCC_TRANSCRIPTION_REGULATOR_COMPLEX, GOCC_NUCLEOLUS, SCGGAAGY_ELK1_02, GOMF_TRANSCRIPTION_FACTOR_BINDING

GO Biological Process (4): RNA polymerase I preinitiation complex assembly (GO:0001188), DNA-templated transcription (GO:0006351), nucleolar large rRNA transcription by RNA polymerase I (GO:0042790), transcription by RNA polymerase I (GO:0006360)

GO Molecular Function (6): RNA polymerase I core promoter sequence-specific DNA binding (GO:0001164), zinc ion binding (GO:0008270), TBP-class protein binding (GO:0017025), DNA binding (GO:0003677), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (6): nucleus (GO:0005634), nucleoplasm (GO:0005654), RNA polymerase transcription factor SL1 complex (GO:0005668), nucleolus (GO:0005730), RNA polymerase I core factor complex (GO:0070860), RNA polymerase I transcription regulator complex (GO:0000120)

Reactome top-level categories

Rollup of top-6 pathways:

Category	Pathways
Negative epigenetic regulation of rRNA expression	2
RNA Polymerase I Promoter Clearance	2
RNA Polymerase I Transcription	2
Gene expression (Transcription)	2
Epigenetic regulation of gene expression	2
Positive epigenetic regulation of rRNA expression	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
nuclear lumen	2
RNA polymerase I transcription regulator complex	2
transcription initiation at RNA polymerase I promoter	1
transcription preinitiation complex assembly	1
gene expression	1
RNA biosynthetic process	1
transcription by RNA polymerase I	1
rRNA transcription	1
DNA-templated transcription	1
core promoter sequence-specific DNA binding	1
RNA polymerase I transcription regulatory region sequence-specific DNA binding	1
RNA polymerase I preinitiation complex assembly	1
transition metal ion binding	1
general transcription initiation factor binding	1
nucleic acid binding	1
binding	1
cation binding	1
intracellular membrane-bounded organelle	1
cellular anatomical structure	1
intracellular membraneless organelle	1
transcription regulator complex	1
nucleolus	1
nuclear protein-containing complex	1

Protein interactions and networks

STRING

702 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TAF1B	TAF1C	Q15572	999
TAF1B	TAF1A	Q15573	999
TAF1B	TAF1D	Q9H5J8	992
TAF1B	NOC2L	Q9Y3T9	825
TAF1B	TBP	P20226	806
TAF1B	ASTE1	Q2TB18	801
TAF1B	RRN3	Q9NYV6	795
TAF1B	TAF1	P21675	706
TAF1B	UBTF	P17480	701
TAF1B	POLI	Q9UNA4	658
TAF1B	THAP7	Q9BT49	650
TAF1B	TAF12	Q16514	628
TAF1B	URB2	Q14146	581
TAF1B	PCNX2	A6NKB5	540
TAF1B	POLR1D	P0DPB6	509

IntAct

74 interactions, top by confidence:

A	B	Type	Score
EAF1	ELL2	psi-mi:“MI:0914”(association)	0.840
TAF1B	TBP	psi-mi:“MI:0915”(physical association)	0.760
TBP	TAF1B	psi-mi:“MI:0915”(physical association)	0.760
TAF1A	TBP	psi-mi:“MI:0914”(association)	0.740
TAF1B	TAF1A	psi-mi:“MI:0915”(physical association)	0.670
TAF1B	TAF1C	psi-mi:“MI:0915”(physical association)	0.670
TAF1B	ACADVL	psi-mi:“MI:0915”(physical association)	0.560
TAF1B	MEOX2	psi-mi:“MI:0915”(physical association)	0.560
CALR	TAF1B	psi-mi:“MI:0915”(physical association)	0.560
ACADVL	TAF1B	psi-mi:“MI:0915”(physical association)	0.560
MECP2	GTPBP10	psi-mi:“MI:0914”(association)	0.530
TRIM44	ODAD3	psi-mi:“MI:0914”(association)	0.530
EPB41L3	AP3B1	psi-mi:“MI:0914”(association)	0.530
MAGEB2	POLRMT	psi-mi:“MI:0914”(association)	0.530
RRP8	NVL	psi-mi:“MI:0914”(association)	0.530
TAF1C	DNAJA2	psi-mi:“MI:0914”(association)	0.530
NIFK	RSL1D1	psi-mi:“MI:0914”(association)	0.530
TAF1A	TAF1C	psi-mi:“MI:0914”(association)	0.530
SET	TAF1B	psi-mi:“MI:0915”(physical association)	0.520
TAF1B	SRPK1	psi-mi:“MI:0217”(phosphorylation reaction)	0.440
NAPB	TAF1B	psi-mi:“MI:0915”(physical association)	0.370
ECE1	TAF1B	psi-mi:“MI:0915”(physical association)	0.370
TBP	DYRK1A	psi-mi:“MI:0914”(association)	0.350
POLR1A	POLR2H	psi-mi:“MI:0914”(association)	0.350

BioGRID (137): KAT2B (Co-localization), TAF1D (Affinity Capture-MS), TAF1A (Affinity Capture-MS), TAF1C (Affinity Capture-MS), TAF1B (Affinity Capture-MS), TAF1B (Affinity Capture-MS), TAF1B (Reconstituted Complex), TAF1B (Affinity Capture-MS), TAF1B (Affinity Capture-MS), TAF1B (Affinity Capture-MS), TAF1B (Affinity Capture-MS), TAF1B (Affinity Capture-MS), TAF1B (Affinity Capture-MS), TAF1B (Affinity Capture-MS), TAF1B (Affinity Capture-Western)

ESM2 similar proteins: A2RRP1, A2YXJ7, A7P514, A8KBY2, A9UL13, A9UL14, B1ABR6, B1ABS0, B8AX23, B9GLX8, B9SVG9, D3ZYB7, F1R3W0, F7AEX0, F7BLM1, O15091, O82677, P56695, P97358, Q1JQD6, Q2ABE5, Q2R374, Q32N22, Q3LXA7, Q4JF75, Q4R657, Q53T94, Q5TYW4, Q5U2W4, Q5W770, Q5XVF0, Q5ZJR9, Q5ZLS8, Q66IW8, Q66WV0, Q84QM3, Q86VD1, Q8C5W4, Q8C6S9, Q8H0J6

Diamond homologs: D3ZYB7, F1R3W0, F7BLM1, P97358, Q1JQD6, Q32N22, Q4R657, Q53T94, Q5ZJR9

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TAF1B	“form complex”	“SL1 complex”	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 72 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
RNA Polymerase I Transcription Termination	7	44.8×	5e-08
Positive epigenetic regulation of rRNA expression	6	40.7×	5e-07
RNA Polymerase I Transcription	7	39.2×	6e-08
Negative epigenetic regulation of rRNA expression	7	35.6×	9e-08
RNA Polymerase I Promoter Clearance	6	34.5×	1e-06
RNA Polymerase I Transcription Initiation	6	26.3×	4e-06
SIRT1 negatively regulates rRNA expression	5	16.7×	1e-04
Peptide chain elongation	6	14.9×	7e-05

GO biological processes:

GO term	Partners	Fold	FDR
cytoplasmic translation	6	16.3×	7e-04
translation	6	9.1×	5e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	71
Likely benign	4
Benign	0

Top pathogenic / likely-pathogenic (0)

SpliceAI

2646 predictions. Top by Δscore:

Variant	Effect	Δscore
2:9843616:C:G	donor_gain	1.0000
2:9843621:G:GT	donor_gain	1.0000
2:9843673:G:GT	donor_gain	1.0000
2:9843674:A:T	donor_gain	1.0000
2:9845215:CATA:C	acceptor_loss	1.0000
2:9845217:TAGG:T	acceptor_loss	1.0000
2:9845218:A:AG	acceptor_gain	1.0000
2:9845218:A:G	acceptor_loss	1.0000
2:9845219:G:GG	acceptor_gain	1.0000
2:9845219:G:T	acceptor_loss	1.0000
2:9845219:GGAA:G	acceptor_gain	1.0000
2:9845314:CAGAG:C	donor_gain	1.0000
2:9845315:AGAG:A	donor_gain	1.0000
2:9845316:GAG:G	donor_gain	1.0000
2:9845316:GAGG:G	donor_gain	1.0000
2:9845317:AG:A	donor_gain	1.0000
2:9845318:GG:G	donor_gain	1.0000
2:9845319:G:GG	donor_gain	1.0000
2:9847308:T:G	donor_gain	1.0000
2:9849371:A:AG	acceptor_gain	1.0000
2:9849372:G:GG	acceptor_gain	1.0000
2:9849372:GA:G	acceptor_gain	1.0000
2:9849372:GAGAT:G	acceptor_gain	1.0000
2:9851539:A:AG	acceptor_gain	1.0000
2:9851540:G:GG	acceptor_gain	1.0000
2:9868426:TCAG:T	donor_loss	1.0000
2:9868427:CAG:C	donor_loss	1.0000
2:9868428:AGGTA:A	donor_loss	1.0000
2:9868429:GGT:G	donor_loss	1.0000
2:9868430:G:GA	donor_loss	1.0000

AlphaMissense

3896 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
2:9845292:T:C	C31R	0.996
2:9845294:C:G	C31W	0.996
2:9854347:T:A	W109R	0.996
2:9854347:T:C	W109R	0.996
2:9845262:T:A	W21R	0.995
2:9845262:T:C	W21R	0.995
2:9845264:G:C	W21C	0.995
2:9845264:G:T	W21C	0.995
2:9845292:T:A	C31S	0.995
2:9845293:G:C	C31S	0.995
2:9851555:T:A	W74R	0.995
2:9851555:T:C	W74R	0.995
2:9854360:T:C	L113P	0.995
2:9913185:T:A	W403R	0.994
2:9913185:T:C	W403R	0.994
2:9845238:T:C	C13R	0.993
2:9845247:T:A	C16S	0.992
2:9845248:G:C	C16S	0.992
2:9845293:G:A	C31Y	0.992
2:9851570:G:C	G79R	0.992
2:9905001:T:C	L317P	0.992
2:9910880:A:T	K367I	0.992
2:9933829:A:C	S538R	0.992
2:9933831:T:A	S538R	0.992
2:9933831:T:G	S538R	0.992
2:9845301:T:C	C34R	0.991
2:9910881:A:C	K367N	0.991
2:9910881:A:T	K367N	0.991
2:9919613:T:C	L453P	0.991
2:9845238:T:A	C13S	0.990

dbSNP variants (sampled 300 via entrez): RS1000024318 (2:9862549 A>G), RS1000028773 (2:9865580 G>GA), RS1000085603 (2:9915471 A>G), RS1000107915 (2:9918387 C>A,G), RS1000116746 (2:9915097 C>T), RS1000143254 (2:9874659 C>G), RS1000179813 (2:9929765 C>T), RS1000192945 (2:9846340 T>C), RS1000199355 (2:9902408 T>A), RS1000268765 (2:9868709 A>G), RS1000272492 (2:9849756 C>T), RS1000275040 (2:9889710 G>C), RS1000278858 (2:9927116 T>C), RS1000321998 (2:9923677 C>T), RS1000339423 (2:9859499 G>A)

Disease associations

OMIM: gene MIM:604904 | disease phenotypes: MIM:119530

GenCC curated gene-disease

Mondo (1): orofacial cleft 1 (MONDO:0007335)

Orphanet (0):

HPO phenotypes

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

GWAS associations

6 associations (top):

Study	Trait	p-value
GCST001942_5	Prostate cancer	3.000000e-08
GCST003808_2	Non-response to selective serotonin reuptake inhibitors and depression	7.000000e-07
GCST004166_47	Nonsyndromic cleft lip with cleft palate	6.000000e-09
GCST005728_3	Egg allergy (maternal genetic effects)	3.000000e-06
GCST009267_18	Dental caries (decayed, missing and filled teeth)	4.000000e-06
GCST009268_1	Dental caries (decayed, missing and filled tooth surfaces)	5.000000e-06

EFO canonical traits (4, from GWAS)

EFO ID	Trait name
EFO:0005658	response to selective serotonin reuptake inhibitor
EFO:0003959	cleft lip
EFO:0005939	parental genotype effect measurement
EFO:0007018	egg allergy measurement

MeSH disease descriptors (1)

Descriptor	Name	Tree numbers
C566121	Orofacial Cleft 1 (supp.)

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL5725080 (SINGLE PROTEIN)

Molecules with ChEMBL bioactivity

1 molecules (phase ≥1), by development phase (incl. off-target/promiscuous compounds). Patent mentions across the top 20 by phase: 1,538 (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
CHEMBL1232461	MOLIBRESIB	2	1,538

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

ChEMBL bioactivities

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

pChembl	Type	Value	Unit	Molecule
6.75	IC50	180	nM	MOLIBRESIB

PubChem BioAssay actives

1 with measured affinity, of 6 total; 1 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
2-[(4S)-6-(4-chlorophenyl)-8-methoxy-1-methyl-4H-[1,2,4]triazolo[4,3-a][1,4]benzodiazepin-4-yl]-N-ethylacetamide	2178699: Inhibition of TAF1B (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	0.1800	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Valproic Acid	decreases expression, affects cotreatment	3
Air Pollutants	decreases expression, increases abundance	2
Phenylmercuric Acetate	affects cotreatment, decreases expression	2
Cadmium Chloride	decreases expression, increases abundance, increases expression	2
aristolochic acid I	decreases expression	1
GSK-J4	decreases expression	1
dicrotophos	decreases expression	1
triphenyl phosphate	affects expression	1
bisphenol A	decreases expression	1
arsenite	affects binding, decreases reaction	1
sodium arsenite	decreases expression, increases abundance	1
cobaltous chloride	decreases expression	1
potassium chromate(VI)	affects cotreatment, decreases expression	1
nickel sulfate	decreases expression	1
beta-methylcholine	affects expression	1
epigallocatechin gallate	affects cotreatment, decreases expression	1
4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide	affects cotreatment, decreases expression	1
dorsomorphin	affects cotreatment, decreases expression	1
Resveratrol	increases expression, affects cotreatment	1
Temozolomide	decreases expression	1
Arsenic	decreases expression, increases abundance	1
Atrazine	decreases expression	1
Benzo(a)pyrene	decreases methylation	1
Cadmium	increases abundance, increases expression	1
Coal	decreases expression, increases abundance	1
Dimethyl Sulfoxide	increases expression	1
Lead	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Silicon Dioxide	increases expression	1
Smoke	decreases expression, increases abundance	1

ChEMBL screening assays

6 unique, capped per target: 6 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL5697429	Binding	Inhibition of TAF1B (unknown origin) assessed as fold change at 10 uM incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia. — Nature

Clinical trials (associated diseases)

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