TAF3

Summary

TAF3 (TATA-box binding protein associated factor 3, HGNC:17303) is a protein-coding gene on chromosome 10p14, encoding Transcription initiation factor TFIID subunit 3 (Q5VWG9). The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription.

The highly conserved RNA polymerase II transcription factor TFIID (see TAF1; MIM 313650) comprises the TATA box-binding protein (TBP; MIM 600075) and a set of TBP-associated factors (TAFs), including TAF3. TAFs contribute to promoter recognition and selectivity and act as antiapoptotic factors (Gangloff et al., 2001 [PubMed 11438666]).

Source: NCBI Gene 83860 — RefSeq curated summary.

At a glance

• GWAS associations: 7
• Clinical variants (ClinVar): 109 total
• Druggable target: yes
• MANE Select transcript: NM_031923

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:17303
Approved symbol	TAF3
Name	TATA-box binding protein associated factor 3
Location	10p14
Locus type	gene with protein product
Status	Approved
Aliases	TAF140, TAFII140
Ensembl gene	ENSG00000165632
Ensembl biotype	protein_coding
OMIM	606576
Entrez	83860

Gene structure

Transcript identifiers

Ensembl transcripts: 8 — 5 retained_intron, 2 protein_coding, 1 nonsense_mediated_decay

ENST00000344293, ENST00000685647, ENST00000686593, ENST00000687522, ENST00000687671, ENST00000690066, ENST00000692164, ENST00000692339

RefSeq mRNA: 1 — MANE Select: NM_031923 NM_031923

CCDS: CCDS41487

Canonical transcript exons

ENST00000344293 — 7 exons

Exon	Start	End
ENSE00001094855	7963920	7965742
ENSE00001094858	7824318	7824560
ENSE00001379308	8013731	8013837
ENSE00001387509	8009078	8009330
ENSE00001400026	7977241	7977323
ENSE00001480707	8014637	8016631
ENSE00001480757	7818505	7818875

Expression profiles

Bgee: expression breadth ubiquitous, 255 present calls, max score 96.57.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 9.2470 / max 271.3708, expressed in 1761 samples.

FANTOM5 promoters (2 alternative TSS)

Promoter ID	TPM avg	Samples expressed
103767	8.6372	1751
103770	0.6097	225

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
tendon of biceps brachii	UBERON:0008188	96.57	gold quality
vena cava	UBERON:0004087	94.18	gold quality
oocyte	CL:0000023	93.78	gold quality
cardia of stomach	UBERON:0001162	93.71	gold quality
sural nerve	UBERON:0015488	93.03	gold quality
secondary oocyte	CL:0000655	92.85	gold quality
medial globus pallidus	UBERON:0002477	92.36	gold quality
globus pallidus	UBERON:0001875	91.23	gold quality
pylorus	UBERON:0001166	91.00	gold quality
pericardium	UBERON:0002407	90.87	gold quality
ventral tegmental area	UBERON:0002691	90.27	gold quality
sperm	CL:0000019	90.07	gold quality
superior surface of tongue	UBERON:0007371	90.05	gold quality
skeletal muscle tissue of rectus abdominis	UBERON:0004511	89.93	gold quality
dorsal root ganglion	UBERON:0000044	89.78	gold quality
tongue	UBERON:0001723	89.68	gold quality
nipple	UBERON:0002030	89.46	gold quality
inferior vagus X ganglion	UBERON:0005363	89.46	gold quality
body of tongue	UBERON:0011876	89.45	gold quality
trachea	UBERON:0003126	89.43	gold quality
saphenous vein	UBERON:0007318	89.19	gold quality
dorsal plus ventral thalamus	UBERON:0001897	89.09	gold quality
pons	UBERON:0000988	88.92	gold quality
lateral nuclear group of thalamus	UBERON:0002736	88.88	gold quality
medulla oblongata	UBERON:0001896	88.84	gold quality
subthalamic nucleus	UBERON:0001906	88.62	gold quality
substantia nigra pars reticulata	UBERON:0001966	88.61	gold quality
superior vestibular nucleus	UBERON:0007227	88.49	gold quality
pharyngeal mucosa	UBERON:0000355	88.26	gold quality
trigeminal ganglion	UBERON:0001675	88.17	gold quality

Single-cell (SCXA)

Detected in 2 experiment(s), a significant marker in 0.

Experiment	Marker?	Max mean expression
E-MTAB-6386	no	310.62
E-ANND-3	no	3.24

Regulation

Is transcription factor: no

miRNA regulators (miRDB)

17 targeting TAF3, 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-200B-3P	100.00	73.31	2693
HSA-MIR-429	100.00	73.44	2698
HSA-MIR-6842-5P	99.80	67.54	1587
HSA-MIR-7110-5P	99.80	67.84	1712
HSA-MIR-6512-3P	99.65	66.07	1468
HSA-MIR-6720-5P	99.65	66.22	1459
HSA-MIR-1303	99.65	69.77	1662
HSA-MIR-6752-5P	99.59	67.32	1243
HSA-MIR-4651	99.06	67.57	2002
HSA-MIR-608	98.93	67.83	2013
HSA-MIR-4764-5P	98.88	65.53	894
HSA-MIR-4477A	98.83	69.75	2952
HSA-MIR-653-3P	98.31	67.71	1542
HSA-MIR-1972	97.67	67.38	1172
HSA-MIR-668-3P	96.18	65.80	673
HSA-MIR-4774-5P	95.92	68.27	827
HSA-MIR-6812-3P	90.58	63.80	60

Literature-anchored findings (GeneRIF, showing 4)

• Data identified TAF3 as an evolutionarily conserved negative regulator of p53 transcription activation function. (PMID:18549481)
• Study shows that this TAF3 activity is critical for early lineage segregation during stem cell differentiation. (PMID:21884934)
• Study shows that H3K4me3-TAF3 interactions direct global TFIID recruitment to active genes, some of which are p53 targets. Further analyses show that H3K4me3 enhances p53-dependent transcription by stimulating preinitiation complex formation. (PMID:23452851)
• Data show that transcription cofactor TAF3 is required for transcription of the alpha spectrin SPTA1 gene. (PMID:23935956)

Cross-species orthologs

3 orthologs

Organism	Symbol	Gene ID
danio_rerio	taf3	ENSDARG00000045513
mus_musculus	Taf3	ENSMUSG00000025782
drosophila_melanogaster	Taf3	FBGN0026262

Paralogs (1): CXXC1 (ENSG00000154832)

Protein

Protein identifiers

Transcription initiation factor TFIID subunit 3 — Q5VWG9 (reviewed: Q5VWG9)

Alternative names: 140 kDa TATA box-binding protein-associated factor, TBP-associated factor 3, Transcription initiation factor TFIID 140 kDa subunit

All UniProt accessions (3): A0A8I5KR98, A0A8I5QJF0, Q5VWG9

UniProt curated annotations — full annotation on UniProt →

Function. The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription. TFIID recognizes and binds promoters with or without a TATA box via its subunit TBP, a TATA-box-binding protein, and promotes assembly of the pre-initiation complex (PIC). The TFIID complex consists of TBP and TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13. The TFIID complex structure can be divided into 3 modules TFIID-A, TFIID-B, and TFIID-C. TAF3 forms the TFIID-A module together with TAF5 and TBP. Required in complex with TBPL2 for the differentiation of myoblasts into myocytes. The TAF3-TBPL2 complex replaces TFIID at specific promoters at an early stage in the differentiation process.

Subunit / interactions. Component of the TFIID basal transcription factor complex, composed of TATA-box-binding protein TBP, and a number of TBP-associated factors (TAFs), including TAF1, TAF2, TAF3, TAF4, TAF5, TAF6, TAF7, TAF8, TAF9, TAF10, TAF11, TAF12 and TAF13. Interacts with TAF10 via the histone fold. Interacts with TAF13, TBP, SAP130 and GCN5L2. Interacts with TBPL2.

Subcellular location. Nucleus.

Domain organisation. The PHD-type zinc finger mediates binding to histone H3 methyllysine at position 4 (H3K4me3).

Similarity. Belongs to the TAF3 family.

RefSeq proteins (1): NP_114129* (*=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001965	Znf_PHD	Domain
IPR006565	BTP	Domain
IPR009072	Histone-fold	Homologous_superfamily
IPR011011	Znf_FYVE_PHD	Homologous_superfamily
IPR013083	Znf_RING/FYVE/PHD	Homologous_superfamily
IPR019786	Zinc_finger_PHD-type_CS	Conserved_site
IPR019787	Znf_PHD-finger	Domain

Pfam: PF00628, PF07524

UniProt features (71 total): compositionally biased region 13, modified residue 12, binding site 8, region of interest 7, sequence conflict 7, helix 7, strand 6, sequence variant 4, cross-link 2, turn 2, chain 1, zinc finger region 1, mutagenesis site 1

Structure

Experimental structures (PDB)

30 structures.

PDB	Method	Resolution (Å)
5WXH	X-RAY DIFFRACTION	1.3
5XMY	X-RAY DIFFRACTION	1.7
5WXG	X-RAY DIFFRACTION	1.7
5C13	X-RAY DIFFRACTION	2.1
7EGF	ELECTRON MICROSCOPY	3.16
7EGB	ELECTRON MICROSCOPY	3.3
7EG9	ELECTRON MICROSCOPY	3.7
7EGC	ELECTRON MICROSCOPY	3.9
7ENA	ELECTRON MICROSCOPY	4.07
7EGA	ELECTRON MICROSCOPY	4.1
7ENC	ELECTRON MICROSCOPY	4.13
8GXS	ELECTRON MICROSCOPY	4.16
7EDX	ELECTRON MICROSCOPY	4.5
8GXQ	ELECTRON MICROSCOPY	5.04
8WAK	ELECTRON MICROSCOPY	5.47
8WAP	ELECTRON MICROSCOPY	5.85
8WAN	ELECTRON MICROSCOPY	6.07
8WAS	ELECTRON MICROSCOPY	6.13
7EG7	ELECTRON MICROSCOPY	6.2
8WAQ	ELECTRON MICROSCOPY	6.29
8WAO	ELECTRON MICROSCOPY	6.4
7EGD	ELECTRON MICROSCOPY	6.75
8WAR	ELECTRON MICROSCOPY	7.2
7EG8	ELECTRON MICROSCOPY	7.4
8WAL	ELECTRON MICROSCOPY	8.52
7EGJ	ELECTRON MICROSCOPY	8.64
7EGE	ELECTRON MICROSCOPY	9
6MZD	ELECTRON MICROSCOPY	9.8
7EGI	ELECTRON MICROSCOPY	9.82
6MZL	ELECTRON MICROSCOPY	23

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q5VWG9-F1	55.75	0.09

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 (8): 868; 871; 883; 886; 891; 894; 909; 912

Post-translational modifications (14): 183, 199, 229, 243, 266, 291, 297, 301, 501, 667, 755, 776, 581, 746

Mutagenesis-validated functional residues (1):

Position	Phenotype
23	loss of interaction with taf10.

Function

Pathways and Gene Ontology

Reactome pathways

20 pathways

ID	Pathway
R-HSA-167161	HIV Transcription Initiation
R-HSA-167162	RNA Polymerase II HIV Promoter Escape
R-HSA-167172	Transcription of the HIV genome
R-HSA-674695	RNA Polymerase II Pre-transcription Events
R-HSA-6804756	Regulation of TP53 Activity through Phosphorylation
R-HSA-73776	RNA Polymerase II Promoter Escape
R-HSA-73779	RNA Polymerase II Transcription Pre-Initiation And Promoter Opening
R-HSA-75953	RNA Polymerase II Transcription Initiation
R-HSA-76042	RNA Polymerase II Transcription Initiation And Promoter Clearance
R-HSA-162587	HIV Life Cycle
R-HSA-162599	Late Phase of HIV Life Cycle
R-HSA-162906	HIV Infection
R-HSA-1643685	Disease
R-HSA-212436	Generic Transcription Pathway
R-HSA-3700989	Transcriptional Regulation by TP53
R-HSA-5633007	Regulation of TP53 Activity
R-HSA-5663205	Infectious disease
R-HSA-73857	RNA Polymerase II Transcription
R-HSA-74160	Gene expression (Transcription)
R-HSA-9824446	Viral Infection Pathways

MSigDB gene sets: 134 (showing top): PEREZ_TP63_TARGETS, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GOBP_NEGATIVE_REGULATION_OF_INTRACELLULAR_SIGNAL_TRANSDUCTION, REACTOME_HIV_INFECTION, CREIGHTON_ENDOCRINE_THERAPY_RESISTANCE_1, GOBP_MAINTENANCE_OF_LOCATION, GOBP_MAINTENANCE_OF_PROTEIN_LOCALIZATION_IN_ORGANELLE, GOBP_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, LIAO_METASTASIS, GOBP_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, GARCIA_TARGETS_OF_FLI1_AND_DAX1_DN, GOBP_TRANSCRIPTION_INITIATION_AT_RNA_POLYMERASE_II_PROMOTER, GOBP_SIGNAL_TRANSDUCTION_BY_P53_CLASS_MEDIATOR, GOBP_MRNA_TRANSCRIPTION, PEREZ_TP53_AND_TP63_TARGETS

GO Biological Process (9): negative regulation of transcription by RNA polymerase II (GO:0000122), mRNA transcription by RNA polymerase II (GO:0042789), positive regulation of transcription by RNA polymerase II (GO:0045944), RNA polymerase II preinitiation complex assembly (GO:0051123), maintenance of protein location in nucleus (GO:0051457), positive regulation of transcription initiation by RNA polymerase II (GO:0060261), negative regulation of signal transduction by p53 class mediator (GO:1901797), chromatin organization (GO:0006325), transcription by RNA polymerase II (GO:0006366)

GO Molecular Function (8): p53 binding (GO:0002039), zinc ion binding (GO:0008270), RNA polymerase II general transcription initiation factor activity (GO:0016251), protein heterodimerization activity (GO:0046982), histone H3K4me3 reader activity (GO:0140002), transcription regulator inhibitor activity (GO:0140416), protein binding (GO:0005515), metal ion binding (GO:0046872)

GO Cellular Component (5): male germ cell nucleus (GO:0001673), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription factor TFIID complex (GO:0005669), nuclear membrane (GO:0031965)

Reactome top-level categories

Rollup of top-13 pathways:

Category	Pathways
RNA Polymerase II Transcription	4
Transcription of the HIV genome	2
RNA Polymerase II Transcription Initiation And Promoter Clearance	2
Late Phase of HIV Life Cycle	1
Regulation of TP53 Activity	1
HIV Infection	1
HIV Life Cycle	1
Viral Infection Pathways	1
Generic Transcription Pathway	1
Transcriptional Regulation by TP53	1
Disease	1
Gene expression (Transcription)	1
Infectious disease	1

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	4
regulation of transcription by RNA polymerase II	2
transcription initiation at RNA polymerase II promoter	2
nucleus	2
negative regulation of DNA-templated transcription	1
mRNA transcription	1
positive regulation of DNA-templated transcription	1
transcription preinitiation complex assembly	1
protein localization to nucleus	1
maintenance of protein localization in organelle	1
positive regulation of transcription by RNA polymerase II	1
regulation of transcription initiation by RNA polymerase II	1
positive regulation of DNA-templated transcription initiation	1
signal transduction by p53 class mediator	1
regulation of signal transduction by p53 class mediator	1
negative regulation of intracellular signal transduction	1
cellular component organization	1
DNA-templated transcription	1
protein binding	1
transition metal ion binding	1
general transcription initiation factor activity	1
protein dimerization activity	1
histone H3 reader activity	1
regulation of gene expression	1
transcription regulator activity	1
molecular function inhibitor activity	1
binding	1
cation binding	1
germ cell nucleus	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cellular anatomical structure	1
RNA polymerase II, holoenzyme	1
RNA polymerase II transcription regulator complex	1
nuclear envelope	1
organelle membrane	1

Protein interactions and networks

STRING

982 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TAF3	TBPL2	Q6SJ96	990
TAF3	TAF10	Q12962	959
TAF3	TAF13	Q15543	889
TAF3	TBP	P20226	886
TAF3	TAF1	P21675	855
TAF3	CTCF	P49711	847
TAF3	H3-7	Q5TEC6	820
TAF3	H3-3A	P06351	819
TAF3	H3C14	Q71DI3	819
TAF3	H3-5	Q6NXT2	819
TAF3	H3C1	P02295	819
TAF3	H3-4	Q16695	819
TAF3	ING2	Q9H160	816
TAF3	TAF6	P49848	803
TAF3	MYOD1	P15172	800

IntAct

54 interactions, top by confidence:

A	B	Type	Score
TAF12	TAF4	psi-mi:“MI:0914”(association)	0.760
TAF10	TAF4	psi-mi:“MI:0914”(association)	0.650
TAF10	TAF4	psi-mi:“MI:0915”(physical association)	0.650
TAF3	TAF5	psi-mi:“MI:0915”(physical association)	0.560
TAF3	H3-3A	psi-mi:“MI:0915”(physical association)	0.540
TAF3	H3-3A	psi-mi:“MI:0407”(direct interaction)	0.540
TAF8	TAF4	psi-mi:“MI:0914”(association)	0.530
SPATA25	TAF4	psi-mi:“MI:0914”(association)	0.530
TAF7L	TAF4	psi-mi:“MI:0914”(association)	0.530
GTF2A2	TAF4	psi-mi:“MI:0915”(physical association)	0.490
TAF3	NPM1	psi-mi:“MI:0915”(physical association)	0.400
HMGB1	TAF3	psi-mi:“MI:0915”(physical association)	0.370
MZT1	ZC3H18	psi-mi:“MI:0914”(association)	0.350
	TAF4	psi-mi:“MI:0914”(association)	0.350
TAF7L	TAF4	psi-mi:“MI:0914”(association)	0.350
MED26		psi-mi:“MI:0914”(association)	0.350
TBP	BDP1	psi-mi:“MI:0914”(association)	0.350
ZCCHC10	C1orf226	psi-mi:“MI:0914”(association)	0.350

BioGRID (130): TAF3 (Protein-peptide), CDC23 (Co-fractionation), NAP1L4 (Co-fractionation), TAF3 (Co-fractionation), TAF3 (Co-fractionation), TAF3 (Co-fractionation), TAF3 (Co-fractionation), TAF3 (Affinity Capture-MS), TAF3 (Affinity Capture-MS), TAF3 (Affinity Capture-MS), TAF3 (Affinity Capture-Western), TAF3 (Affinity Capture-Western), TAF3 (Affinity Capture-Western), TAF3 (Affinity Capture-MS), TAF3 (Affinity Capture-MS)

ESM2 similar proteins: A0AVK6, A0JME2, A0M8S4, A2AUY4, D4A666, E1B7L7, E1BE02, E1BUG7, F1LMN3, F1QZ88, F7EA39, O60293, P53564, P53565, Q07DX4, Q07DY4, Q08AZ1, Q2IBA2, Q2IBE6, Q2IBF7, Q2QLB3, Q4G0F8, Q53TQ3, Q58FA4, Q5DTH5, Q5VWG9, Q5ZJ69, Q63HK5, Q66JY2, Q68FG3, Q69ZF8, Q6P4L9, Q6P4R8, Q6PIJ4, Q6ZPK0, Q6ZQ03, Q6ZSZ6, Q6ZU65, Q80WC1, Q8BG30

Diamond homologs: A7MAZ4, Q28J24, Q5F489, Q5HZG4, Q5VWG9, Q5ZMS1, Q6P0T2, Q7Z7C8, Q7ZYA2, Q9EQH4, Q9VWY6, A2WXR5, A2Y0Q2, B8ADZ3, B8B8I3, B8BJV8, E6ZGB4, O74508, O75151, P0CF52, P0CH95, P29375, P41229, P41230, Q03012, Q08D35, Q12830, Q2R837, Q30DN6, Q3UWM4, Q3UXZ9, Q5EA28, Q5EAW9, Q5RHD1, Q6C423, Q6P949, Q6Z7F4, Q6ZMT4, Q75IR6, Q7F2Z1

SIGNOR signaling

2 interactions.

A	Effect	B	Mechanism
TAF3	“form complex”	TAF3/TRF3	binding
TAF3	“form complex”	TFIID	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 49 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
HIV Transcription Initiation	9	61.7×	4e-13
RNA Polymerase II HIV Promoter Escape	9	61.7×	4e-13
RNA Polymerase II Promoter Escape	9	61.7×	4e-13
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening	9	61.7×	4e-13
RNA Polymerase II Transcription Initiation	9	61.7×	4e-13
RNA Polymerase II Transcription Initiation And Promoter Clearance	9	61.7×	4e-13
Transcription of the HIV genome	9	45.8×	5e-12
Late Phase of HIV Life Cycle	8	39.5×	4e-10

GO biological processes:

GO term	Partners	Fold	FDR
DNA-templated transcription initiation	6	124.8×	5e-10
transcription initiation at RNA polymerase II promoter	9	74.9×	3e-13
RNA polymerase II preinitiation complex assembly	11	66.4×	2e-15
positive regulation of transcription initiation by RNA polymerase II	10	60.4×	1e-13
mRNA transcription by RNA polymerase II	7	51.4×	4e-09
regulation of DNA repair	6	36.8×	6e-07
transcription by RNA polymerase II	11	17.2×	2e-09
chromatin remodeling	6	9.7×	1e-03

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	92
Likely benign	4
Benign	3

Top pathogenic / likely-pathogenic (0)

SpliceAI

3030 predictions. Top by Δscore:

Variant	Effect	Δscore
10:7818871:GCTCT:G	donor_gain	1.0000
10:7824306:A:AG	acceptor_gain	1.0000
10:7824306:ACTTT:A	acceptor_gain	1.0000
10:7824307:C:G	acceptor_gain	1.0000
10:7824310:T:A	acceptor_gain	1.0000
10:7824316:A:AG	acceptor_gain	1.0000
10:7824316:AGAT:A	acceptor_gain	1.0000
10:7824316:AGATG:A	acceptor_gain	1.0000
10:7824317:G:GA	acceptor_gain	1.0000
10:7824317:GA:G	acceptor_gain	1.0000
10:7824317:GAT:G	acceptor_gain	1.0000
10:7824317:GATG:G	acceptor_gain	1.0000
10:7824317:GATGG:G	acceptor_gain	1.0000
10:7963915:A:AG	acceptor_gain	1.0000
10:7963916:C:G	acceptor_gain	1.0000
10:7963918:A:AG	acceptor_gain	1.0000
10:7963919:G:GG	acceptor_gain	1.0000
10:7963919:GAA:G	acceptor_gain	1.0000
10:7963919:GAAGA:G	acceptor_gain	1.0000
10:7965743:G:GG	donor_gain	1.0000
10:7977320:AGAT:A	donor_gain	1.0000
10:7977321:GAT:G	donor_gain	1.0000
10:7977321:GATG:G	donor_gain	1.0000
10:7977324:G:GG	donor_gain	1.0000
10:8013691:A:AG	acceptor_gain	1.0000
10:8013692:T:G	acceptor_gain	1.0000
10:8013700:A:AG	acceptor_gain	1.0000
10:8013701:T:G	acceptor_gain	1.0000
10:8013705:T:TA	acceptor_gain	1.0000
10:8013708:C:A	acceptor_gain	1.0000

AlphaMissense

6092 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:7818776:T:A	W23R	1.000
10:7818776:T:C	W23R	1.000
10:7824390:T:C	L80P	1.000
10:8013764:T:C	C868R	1.000
10:8013809:T:C	C883R	1.000
10:8014686:T:C	C909R	1.000
10:7818753:C:A	A15E	0.999
10:7818756:A:C	Q16P	0.999
10:7818761:T:C	C18R	0.999
10:7818763:C:G	C18W	0.999
10:7818773:G:C	G22R	0.999
10:7818778:G:C	W23C	0.999
10:7818778:G:T	W23C	0.999
10:7818810:T:C	L34P	0.999
10:7818822:T:C	L38P	0.999
10:7824324:G:C	R58P	0.999
10:7824398:T:G	Y83D	0.999
10:7977290:T:C	L761S	0.999
10:8013764:T:A	C868S	0.999
10:8013765:G:A	C868Y	0.999
10:8013765:G:C	C868S	0.999
10:8013766:C:G	C868W	0.999
10:8013773:T:A	C871S	0.999
10:8013773:T:C	C871R	0.999
10:8013774:G:C	C871S	0.999
10:8013809:T:A	C883S	0.999
10:8013810:G:A	C883Y	0.999
10:8013810:G:C	C883S	0.999
10:8013811:T:G	C883W	0.999
10:8013818:T:C	C886R	0.999

dbSNP variants (sampled 300 via entrez): RS1000025050 (10:7901498 A>G), RS1000044105 (10:7906541 A>G), RS1000047604 (10:7989753 G>A), RS1000056059 (10:7901229 CT>C), RS1000058139 (10:7985068 G>A), RS1000080137 (10:7991607 C>T), RS1000082125 (10:7949003 G>A,T), RS1000109437 (10:7988345 T>G), RS1000111026 (10:7905379 A>G), RS1000153244 (10:7861011 G>A,C,T), RS1000177046 (10:7948752 C>G), RS1000193464 (10:7843814 A>G), RS1000199401 (10:7850215 A>C), RS1000220678 (10:7859644 C>T), RS1000224245 (10:7970596 G>A,T)

Disease associations

OMIM: gene MIM:606576 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

7 associations (top):

Study	Trait	p-value
GCST002936_1	Cadmium levels	3.000000e-06
GCST009798_1	Asthma	7.000000e-27
GCST009798_2	Asthma	2.000000e-16
GCST009798_43	Asthma	1.000000e-08
GCST009798_5	Asthma	9.000000e-47
GCST009798_79	Asthma	1.000000e-06
GCST90002403_254	Red blood cell count	2.000000e-09

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0004305	erythrocyte count

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL4523329 (SINGLE PROTEIN)

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

CTD chemical–gene interactions

27 total (human), top 27 by PubMed support.

Chemical	Actions (top 5)	PubMed papers
Formaldehyde	decreases expression, increases expression	2
Valproic Acid	affects expression, increases expression	2
GSK-J4	increases expression	1
FR900359	affects phosphorylation	1
dicrotophos	increases expression	1
titanium dioxide	increases methylation	1
sodium arsenite	increases expression	1
hydroquinone	decreases expression	1
di-n-butylphosphoric acid	affects expression	1
Sunitinib	increases expression	1
Acetaminophen	increases expression	1
Benzo(a)pyrene	decreases methylation	1
Caffeine	affects phosphorylation	1
Carbamazepine	affects expression	1
Cisplatin	increases expression	1
Diclofenac	affects expression	1
Dimethyl Sulfoxide	increases expression	1
Doxorubicin	decreases expression	1
Ethyl Methanesulfonate	increases expression	1
Fluorouracil	affects expression	1
Methyl Methanesulfonate	increases expression	1
Quercetin	increases expression	1
Silicon Dioxide	decreases expression	1
Urethane	increases expression	1
Josamycin	affects response to substance	1
Aflatoxin B1	increases methylation	1
Gold Compounds	decreases expression	1

ChEMBL screening assays

1 unique, capped per target: 1 binding

Representative assays (with source publication via chembl_document):

Assay ID	Type	Description	Source paper
CHEMBL4377356	Binding	Binding affinity to TAF3 (unknown origin) assessed as induction of thermal shifts at 20 uM measured for 25 mins by SYPRO orange dye thermal shift assay	Discovery of a Potent and Selective Fragment-like Inhibitor of Methyllysine Reader Protein Spindlin 1 (SPIN1). — J Med Chem

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A6Y4	SEES3-1V human TAF3, clone1	Embryonic stem cell	Male
CVCL_A6Y5	SEES3-1V human TAF3, clone2	Embryonic stem cell	Male
CVCL_A6Y6	SEES3-1V human TAF3, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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