TAF5

Summary

TAF5 (TATA-box binding protein associated factor 5, HGNC:11539) is a protein-coding gene on chromosome 10q24.33, encoding Transcription initiation factor TFIID subunit 5 (Q15542). The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription. It is a common-essential gene (DepMap: required in 92.5% of cancer cell lines).

Initiation of transcription by RNA polymerase II requires the activities of more than 70 polypeptides. The protein that coordinates these activities is transcription factor IID (TFIID), which binds to the core promoter to position the polymerase properly, serves as the scaffold for assembly of the remainder of the transcription complex, and acts as a channel for regulatory signals. TFIID is composed of the TATA-binding protein (TBP) and a group of evolutionarily conserved proteins known as TBP-associated factors or TAFs. TAFs may participate in basal transcription, serve as coactivators, function in promoter recognition or modify general transcription factors (GTFs) to facilitate complex assembly and transcription initiation. This gene encodes an integral subunit of TFIID associated with all transcriptionally competent forms of that complex. This subunit interacts strongly with two TFIID subunits that show similarity to histones H3 and H4, and it may participate in forming a nucleosome-like core in the TFIID complex. Alternative splicing results in multiple transcript variants.

Source: NCBI Gene 6877 — RefSeq curated summary.

At a glance

• GWAS associations: 5
• Clinical variants (ClinVar): 54 total
• Druggable target: yes — 1 molecules with ChEMBL bioactivity
• Cancer dependency (DepMap): dependent in 92.5% of screened cell lines (common-essential)
• MANE Select transcript: NM_006951

Identifiers

Gene identifiers

Field	Value
HGNC ID	HGNC:11539
Approved symbol	TAF5
Name	TATA-box binding protein associated factor 5
Location	10q24.33
Locus type	gene with protein product
Status	Approved
Aliases	TAFII100
Ensembl gene	ENSG00000148835
Ensembl biotype	protein_coding
OMIM	601787
Entrez	6877

Gene structure

Transcript identifiers

Ensembl transcripts: 11 — 6 retained_intron, 3 protein_coding, 2 nonsense_mediated_decay

ENST00000369839, ENST00000684872, ENST00000686612, ENST00000687501, ENST00000687830, ENST00000690052, ENST00000690667, ENST00000692195, ENST00000692471, ENST00000693184, ENST00000940446

RefSeq mRNA: 2 — MANE Select: NM_006951 NM_006951, NM_139052

CCDS: CCDS7547, CCDS91341

Canonical transcript exons

ENST00000369839 — 11 exons

Exon	Start	End
ENSE00000987661	103381721	103381841
ENSE00000987662	103383238	103383367
ENSE00000987663	103385326	103385490
ENSE00000987664	103387175	103387352
ENSE00000987665	103387521	103387698
ENSE00001092397	103379884	103380019
ENSE00001092398	103378235	103378550
ENSE00001092399	103379608	103379771
ENSE00001092400	103367976	103368548
ENSE00001092401	103373358	103373595
ENSE00001917830	103388006	103389065

Expression profiles

Bgee: expression breadth ubiquitous, 252 present calls, max score 98.63.

FANTOM5 (CAGE): breadth ubiquitous, TPM avg 6.2103 / max 59.3613, expressed in 1646 samples.

FANTOM5 promoters (1 alternative TSS)

Promoter ID	TPM avg	Samples expressed
106808	6.2103	1646

Top tissues by expression

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

Tissue	Anatomy ID	Expression score	Quality
secondary oocyte	CL:0000655	98.63	gold quality
oocyte	CL:0000023	97.50	gold quality
primordial germ cell in gonad	CL:0000670 ∩ UBERON:0000991	90.67	gold quality
male germ line stem cell (sensu Vertebrata) in testis	CL:0000089 ∩ UBERON:0000473	87.39	gold quality
amniotic fluid	UBERON:0000173	82.79	gold quality
ventricular zone	UBERON:0003053	82.24	gold quality
cortical plate	UBERON:0005343	81.04	gold quality
embryo	UBERON:0000922	80.79	gold quality
buccal mucosa cell	CL:0002336	80.74	silver quality
ganglionic eminence	UBERON:0004023	80.17	gold quality
Brodmann (1909) area 23	UBERON:0013554	79.48	gold quality
middle temporal gyrus	UBERON:0002771	79.29	gold quality
tibia	UBERON:0000979	78.59	gold quality
cartilage tissue	UBERON:0002418	77.92	gold quality
testis	UBERON:0000473	77.79	gold quality
trabecular bone tissue	UBERON:0002483	76.40	gold quality
right testis	UBERON:0004534	76.38	gold quality
colonic mucosa	UBERON:0000317	76.16	gold quality
granulocyte	CL:0000094	75.38	gold quality
mucosa of sigmoid colon	UBERON:0004993	75.37	gold quality
bone marrow	UBERON:0002371	75.26	gold quality
left testis	UBERON:0004533	75.22	gold quality
leukocyte	CL:0000738	75.19	gold quality
monocyte	CL:0000576	75.06	gold quality
mononuclear cell	CL:0000842	74.94	gold quality
visceral pleura	UBERON:0002401	74.19	gold quality
primary visual cortex	UBERON:0002436	74.03	gold quality
gingival epithelium	UBERON:0001949	73.97	gold quality
palpebral conjunctiva	UBERON:0001812	73.58	gold quality
oviduct epithelium	UBERON:0004804	73.20	gold quality

Single-cell (SCXA)

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

Experiment	Marker?	Max mean expression
E-MTAB-7303	no	264.19
E-ANND-3	no	3.86

Regulation

Is transcription factor: yes

Downstream targets (CollecTRI)

1 targets.

Target	Regulation
CDKN1A	Unknown

Upstream regulators (CollecTRI, top): TBP

miRNA regulators (miRDB)

132 targeting TAF5, 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-29A-3P	100.00	73.11	1835
HSA-MIR-29B-3P	100.00	73.18	1833
HSA-MIR-29C-3P	100.00	73.15	1833
HSA-MIR-3120-5P	100.00	65.56	965
HSA-MIR-3613-3P	100.00	76.36	7965
HSA-MIR-3163	100.00	77.23	8605
HSA-MIR-34A-5P	99.99	71.21	1784
HSA-MIR-449A	99.99	71.05	1776
HSA-MIR-4500	99.99	72.72	2367
HSA-MIR-3692-3P	99.98	70.27	2139
HSA-MIR-103A-3P	99.98	69.14	1595
HSA-MIR-107	99.98	69.14	1595
HSA-MIR-34C-5P	99.97	70.45	1577
HSA-MIR-449B-5P	99.97	70.26	1580
HSA-MIR-302C-5P	99.97	72.56	3642
HSA-MIR-548AN	99.97	70.91	2817
HSA-MIR-548AJ-3P	99.96	73.38	5345
HSA-MIR-548X-3P	99.96	73.38	5345
HSA-MIR-767-5P	99.95	70.85	993
HSA-MIR-548J-3P	99.94	72.61	4881
HSA-MIR-548AE-3P	99.93	72.66	4867
HSA-MIR-548AH-3P	99.93	72.54	4872
HSA-MIR-548AM-3P	99.93	72.54	4872
HSA-MIR-548AQ-3P	99.93	72.66	4867
HSA-MIR-6835-3P	99.93	70.49	2904
HSA-MIR-497-5P	99.92	71.83	2674
HSA-MIR-498-3P	99.91	71.27	1114
HSA-MIR-1297	99.91	73.41	3162
HSA-MIR-15A-5P	99.90	72.80	2787
HSA-MIR-15B-5P	99.90	72.78	2798

Functional genomics

DepMap (CRISPR cell-line fitness): dependent in 92.5% of screened cell lines, common-essential.

Literature-anchored findings (GeneRIF, showing 4)

• reversible SUMO modification at hsTAF5 contributes to the dynamic regulation of TFIID promoter-binding activity in human cells (PMID:15637059)
• TAF5 protein demonstrates the ability of the N-terminal half of the TAF5 gene to form a flexible, extended dimer, a key property required for the assembly of the TFIID complex (PMID:17227857)
• TFIID TAF6-TAF9 complex formation involves the HEAT repeat-containing C-terminal domain of TAF6 and is modulated by TAF5 protein. (PMID:22696218)
• results show that nonproductive binding of OGG1 to 8-oxoG in promoter sequences could be an epigenetic mechanism to modulate gene expression for a prompt innate immune response. (PMID:24489103)

Cross-species orthologs

6 orthologs

Organism	Symbol	Gene ID
danio_rerio	taf5	ENSDARG00000018325
mus_musculus	Taf5	ENSMUSG00000025049
rattus_norvegicus	Taf5	ENSRNOG00000020274
drosophila_melanogaster	Taf5	FBGN0010356
drosophila_melanogaster	can	FBGN0011569
caenorhabditis_elegans	taf-5	WBGENE00006386

Paralogs (1): TAF5L (ENSG00000135801)

Protein

Protein identifiers

Transcription initiation factor TFIID subunit 5 — Q15542 (reviewed: Q15542)

Alternative names: Transcription initiation factor TFIID 100 kDa subunit

All UniProt accessions (3): Q15542, A0A8I5KNW4, A0A8I5KZ43

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. TAF5 is involved in two modules of TFIID, in TFIID-A together with TAF3 and TBP, and in TFIID-B with TAF8. Involved in contacts between TFIID and TFIIF in the PIC.

Subunit / interactions. Homodimer. 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. The TFIID complex structure can be divided into 3 modules TFIID-A, TFIID-B, and TFIID-C. TAF5 forms the TFIID-A module together with TAF3 and TBP, and in TFIID-B with TAF8. Component of the TFTC-HAT complex, at least composed of TAF5L, TAF6L, TADA3L, SUPT3H/SPT3, TAF2, TAF4, TAF5, GCN5L2/GCN5, TAF10 and TRRAP. TBP is not part of the TFTC-HAT complex. Interacts strongly with the histone H4-related TAF6 and the histone H3-related TAF9, as well as a stable complex comprised of both TAF6 and TAF9. Apparently weaker interactions with TBP, TAF1, TAF11, and TAF12, but not TAF7, also have been observed. (Microbial infection) Interacts with SV40 Large T antigen.

Subcellular location. Nucleus.

Domain organisation. Distinct domains of TAF5/TAFII100 are required for functional interaction with transcription factor TFIIFB (RAP30) and incorporation into the TFIID complex.

Similarity. Belongs to the WD repeat TAF5 family.

Isoforms (2)

UniProt ID	Names	Canonical?
Q15542-1	Long	yes
Q15542-2	Short

RefSeq proteins (2): NP_008882, NP_620640 (=MANE)

Domains & families (InterPro)

ID	Name	Type
IPR001680	WD40_rpt	Repeat
IPR006594	LisH	Conserved_site
IPR007582	TFIID_NTD2	Domain
IPR015943	WD40/YVTN_repeat-like_dom_sf	Homologous_superfamily
IPR019775	WD40_repeat_CS	Conserved_site
IPR020472	WD40_PAC1	Repeat
IPR036322	WD40_repeat_dom_sf	Homologous_superfamily
IPR037264	TFIID_NTD2_sf	Homologous_superfamily

Pfam: PF00400, PF04494

UniProt features (91 total): strand 34, helix 26, turn 7, sequence conflict 6, repeat 6, region of interest 4, compositionally biased region 4, chain 1, domain 1, splice variant 1, sequence variant 1

Structure

Experimental structures (PDB)

31 structures, top 30 by resolution.

PDB	Method	Resolution (Å)
2NXP	X-RAY DIFFRACTION	2.17
6F3T	X-RAY DIFFRACTION	2.5
7EGG	ELECTRON MICROSCOPY	2.77
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
6MZC	ELECTRON MICROSCOPY	4.5
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
6MZM	ELECTRON MICROSCOPY	7.5
8WAL	ELECTRON MICROSCOPY	8.52
7EGJ	ELECTRON MICROSCOPY	8.64
7EGE	ELECTRON MICROSCOPY	9
6MZD	ELECTRON MICROSCOPY	9.8
7EGI	ELECTRON MICROSCOPY	9.82

Predicted structure (AlphaFold)

Model	pLDDT	Fraction very-high
AF-Q15542-F1	77.54	0.49

Function

Pathways and Gene Ontology

Reactome pathways

21 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-6807505	RNA polymerase II transcribes snRNA genes
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: 245 (showing top): GSE18804_SPLEEN_MACROPHAGE_VS_BRAIN_TUMORAL_MACROPHAGE_UP, TGGTGCT_MIR29A_MIR29B_MIR29C, PAX4_01, TGCGCANK_UNKNOWN, TGCTGCT_MIR15A_MIR16_MIR15B_MIR195_MIR424_MIR497, TTCCGTT_MIR191, PEREZ_TP63_TARGETS, HOFMANN_CELL_LYMPHOMA_UP, ATACCTC_MIR202, GOBP_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION, MORF_BRCA1, GCM_ZNF198, FOXO4_01, CTATGCA_MIR153, GOBP_REGULATION_OF_DNA_REPAIR

GO Biological Process (8): regulation of DNA repair (GO:0006282), DNA-templated transcription initiation (GO:0006352), regulation of transcription by RNA polymerase II (GO:0006357), transcription initiation at RNA polymerase II promoter (GO:0006367), mRNA transcription by RNA polymerase II (GO:0042789), positive regulation of DNA-templated transcription (GO:0045893), RNA polymerase II preinitiation complex assembly (GO:0051123), positive regulation of transcription initiation by RNA polymerase II (GO:0060261)

GO Molecular Function (3): RNA polymerase II general transcription initiation factor activity (GO:0016251), identical protein binding (GO:0042802), protein binding (GO:0005515)

GO Cellular Component (6): chromatin (GO:0000785), nucleus (GO:0005634), nucleoplasm (GO:0005654), transcription factor TFIID complex (GO:0005669), actin cytoskeleton (GO:0015629), transcription factor TFTC complex (GO:0033276)

Reactome top-level categories

Rollup of top-12 pathways:

Category	Pathways
RNA Polymerase II Transcription	5
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

GO top-level categories

Rollup of top GO terms by namespace:

Category	Terms
transcription by RNA polymerase II	4
DNA-templated transcription	2
regulation of DNA-templated transcription	2
transcription initiation at RNA polymerase II promoter	2
cellular anatomical structure	2
RNA polymerase II, holoenzyme	2
RNA polymerase II transcription regulator complex	2
DNA repair	1
regulation of DNA metabolic process	1
regulation of cellular response to stress	1
RNA biosynthetic process	1
DNA-templated transcription initiation	1
mRNA transcription	1
positive regulation of RNA biosynthetic process	1
transcription preinitiation complex assembly	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
general transcription initiation factor activity	1
protein binding	1
binding	1
chromosome	1
intracellular membrane-bounded organelle	1
nuclear lumen	1
cytoskeleton	1
SAGA-type complex	1

Protein interactions and networks

STRING

2753 interactions, top by confidence (×1000):

Protein A	Protein B	Partner UniProt	Score
TAF5	TAF6	P49848	999
TAF5	TAF4	O00268	998
TAF5	TAF12	Q16514	998
TAF5	TAF10	Q12962	997
TAF5	TAF9	Q16594	997
TAF5	TAF2	Q6P1X5	977
TAF5	TBP	P20226	948
TAF5	TAF1	P21675	938
TAF5	TAF8	Q7Z7C8	935
TAF5	TAF7	Q15545	868
TAF5	TAF11	Q15544	858
TAF5	TADA3	O75528	829
TAF5	SGF29	Q96ES7	825
TAF5	KAT2B	Q92831	820
TAF5	SUPT20H	Q8NEM7	816

IntAct

131 interactions, top by confidence:

A	B	Type	Score
TBP	TAF1	psi-mi:“MI:0914”(association)	0.890
TAF10	TBP	psi-mi:“MI:0914”(association)	0.840
TAF5	TAF6	psi-mi:“MI:0407”(direct interaction)	0.760
TAF5	TAF6	psi-mi:“MI:0914”(association)	0.760
TAF5	TAF6	psi-mi:“MI:0915”(physical association)	0.760
TAF12	TAF4	psi-mi:“MI:0914”(association)	0.760
TBP	TAF4	psi-mi:“MI:0914”(association)	0.730
TAF12	TAF4	psi-mi:“MI:0915”(physical association)	0.720
TAF12	TAF4	psi-mi:“MI:0914”(association)	0.720

BioGRID (158): TAF5 (Affinity Capture-MS), TAF5 (Protein-peptide), TAF5 (Affinity Capture-MS), ANAPC10 (Co-fractionation), CDC16 (Co-fractionation), TAF2 (Co-fractionation), TAF5 (Co-fractionation), TAF5 (Co-fractionation), TAF5 (Co-fractionation), TAF5 (Co-fractionation), TAF5 (Co-fractionation), TAF6 (Co-fractionation), TBP (Co-fractionation), TAF5 (Affinity Capture-MS), TAF5 (Affinity Capture-MS)

ESM2 similar proteins: A0A4X1TB62, A4VCH4, G3V7Q0, O14795, O35841, O43237, O70585, P23116, P48553, Q0P5J8, Q14152, Q15542, Q1JU68, Q3TLI0, Q3UHE1, Q4R5P6, Q5R660, Q5R7S4, Q5R7U7, Q5RE09, Q5RE70, Q5VSL9, Q5XI83, Q658Y4, Q68E01, Q6IQ26, Q6PAL8, Q6PDL0, Q6TEP1, Q6WKZ8, Q7SYD9, Q7TPD0, Q8BIK4, Q8BWQ6, Q8C079, Q8C092, Q8C9H6, Q8CBY8, Q8IWV8, Q8K400

Diamond homologs: C0NRC6, C6HTE8, D3BUN1, G5EF68, Q15542, Q8C092, Q8I0F4, Q9W328, O13282, O74319, P38129, P49846, Q6CXX3, A2QP30, Q08E38, Q5ZMA2, Q99KP6, Q9FUY2, Q9I9H8, Q9JMJ4, Q9UMS4, B6K1G6, O00423, O48847, O95834, Q05BC3, Q05BV3, Q26613, Q2TAF3, Q32P44, Q3UMY5, Q4V8C3, Q5SQM0, Q6DIP5, Q6ED65, Q6P6T4, Q6ZMW3, Q7TNG5, Q8BQM8, Q8VC03

SIGNOR signaling

1 interactions.

A	Effect	B	Mechanism
TAF5	“form complex”	TFIID	binding

Enriched among interaction partners

Reactome pathways and GO biological processes over-represented among this gene’s 98 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	12	42.4×	3e-15
RNA Polymerase II HIV Promoter Escape	12	42.4×	3e-15
RNA Polymerase II Promoter Escape	12	42.4×	3e-15
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening	12	42.4×	3e-15
RNA Polymerase II Transcription Initiation	12	42.4×	3e-15
RNA Polymerase II Transcription Initiation And Promoter Clearance	12	42.4×	3e-15
Transcription of the HIV genome	12	31.5×	1e-13
Late Phase of HIV Life Cycle	11	28.0×	6e-12

GO biological processes:

GO term	Partners	Fold	FDR
DNA-templated transcription initiation	5	53.8×	2e-06
RNA polymerase II preinitiation complex assembly	14	43.7×	4e-17
transcription initiation at RNA polymerase II promoter	10	43.0×	4e-12
positive regulation of transcription initiation by RNA polymerase II	12	37.5×	8e-14
mRNA transcription by RNA polymerase II	9	34.2×	6e-10
regulation of DNA repair	7	22.2×	2e-06
transcription by RNA polymerase II	11	8.9×	3e-06

Disease & clinical

Clinical variants and AI predictions

ClinVar

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

Classification	Count (floor)
Pathogenic	0
Likely pathogenic	0
Uncertain significance	46
Likely benign	1
Benign	1

Top pathogenic / likely-pathogenic (0)

SpliceAI

1574 predictions. Top by Δscore:

Variant	Effect	Δscore
10:103373356:A:AG	acceptor_gain	1.0000
10:103373356:AGTT:A	acceptor_gain	1.0000
10:103373357:G:GG	acceptor_gain	1.0000
10:103373357:GTTG:G	acceptor_gain	1.0000
10:103373593:G:GT	donor_gain	1.0000
10:103373593:GAA:G	donor_gain	1.0000
10:103373596:G:GG	donor_gain	1.0000
10:103378546:CAAAG:C	donor_loss	1.0000
10:103378547:AAAG:A	donor_loss	1.0000
10:103378551:G:GC	donor_loss	1.0000
10:103378552:T:A	donor_loss	1.0000
10:103379604:GTA:G	acceptor_loss	1.0000
10:103379605:TA:T	acceptor_loss	1.0000
10:103379607:G:GA	acceptor_loss	1.0000
10:103379768:ACAG:A	donor_loss	1.0000
10:103379771:GG:G	donor_loss	1.0000
10:103379772:G:C	donor_loss	1.0000
10:103379772:G:GG	donor_gain	1.0000
10:103379773:T:G	donor_loss	1.0000
10:103379880:A:AG	acceptor_gain	1.0000
10:103379881:C:G	acceptor_gain	1.0000
10:103379882:A:AG	acceptor_gain	1.0000
10:103379883:G:GG	acceptor_gain	1.0000
10:103379883:GA:G	acceptor_gain	1.0000
10:103379883:GAA:G	acceptor_gain	1.0000
10:103379883:GAAT:G	acceptor_gain	1.0000
10:103379883:GAATC:G	acceptor_gain	1.0000
10:103380016:CCAG:C	donor_loss	1.0000
10:103380019:GGT:G	donor_loss	1.0000
10:103387159:A:AG	acceptor_gain	1.0000

AlphaMissense

5190 scored. Top likely-pathogenic:

Variant	Protein change	am_pathogenicity
10:103373550:T:C	L251P	1.000
10:103373553:T:A	V252D	1.000
10:103378375:C:G	S313W	1.000
10:103378399:T:C	L321P	1.000
10:103378435:T:A	V333D	1.000
10:103378447:T:C	L337P	1.000
10:103385369:T:A	W570R	1.000
10:103385369:T:C	W570R	1.000
10:103387179:T:A	W612R	1.000
10:103387179:T:C	W612R	1.000
10:103387305:T:A	W654R	1.000
10:103387305:T:C	W654R	1.000
10:103387567:C:A	A685D	1.000
10:103387599:T:A	W696R	1.000
10:103387599:T:C	W696R	1.000
10:103388024:T:A	V735D	1.000
10:103388032:T:A	W738R	1.000
10:103388032:T:C	W738R	1.000
10:103373450:T:G	Y218D	0.999
10:103373460:T:C	L221P	0.999
10:103373496:G:C	R233P	0.999
10:103373501:G:A	E235K	0.999
10:103373540:T:G	Y248D	0.999
10:103373576:G:C	A260P	0.999
10:103373577:C:A	A260E	0.999
10:103373586:T:C	F263S	0.999
10:103378236:T:C	F267L	0.999
10:103378238:C:A	F267L	0.999
10:103378238:C:G	F267L	0.999
10:103378339:G:C	R301P	0.999

dbSNP variants (sampled 300 via entrez): RS1000359381 (10:103385886 T>A,C), RS1000407875 (10:103385587 T>C,G), RS1000527203 (10:103369523 T>C), RS1000537096 (10:103369868 C>A,T), RS1000719439 (10:103377219 G>A,T), RS1000936478 (10:103384315 A>G), RS1001048029 (10:103386109 C>T), RS1001530462 (10:103370715 C>T), RS1001535689 (10:103371010 G>T), RS1001819074 (10:103379318 G>A), RS1001891198 (10:103385594 G>A), RS1002120733 (10:103379069 G>T), RS1002357056 (10:103366868 C>T), RS1002531734 (10:103372258 G>C,T), RS1002610394 (10:103374508 G>A)

Disease associations

OMIM: gene MIM:601787 | disease phenotypes:

GenCC curated gene-disease

Mondo (0):

Orphanet (0):

HPO phenotypes

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

GWAS associations

5 associations (top):

Study	Trait	p-value
GCST002149_2	Schizophrenia	4.000000e-13
GCST002539_4	Schizophrenia	6.000000e-19
GCST004521_172	Autism spectrum disorder or schizophrenia	4.000000e-14
GCST008361_2	Response to cognitive-behavioural therapy in major depressive disorder	2.000000e-06
GCST008839_270	Height	8.000000e-18

EFO canonical traits (1, from GWAS)

EFO ID	Trait name
EFO:0007820	cognitive behavioural therapy

Drugs & pharmacology

Drug and pharmacology data

Is drug target: yes

ChEMBL targets (1): CHEMBL6066174 (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
6.17	IC50	670	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	2178716: Inhibition of TAF5 (unknown origin) incubated for 1 hr by colloidal coomassie staining based LC-MS/MS analysis	ic50	0.6700	uM

CTD chemical–gene interactions

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

Chemical	Actions (top 5)	PubMed papers
Benzo(a)pyrene	decreases expression, increases methylation	3
Resveratrol	affects cotreatment, increases expression	2
Tetrachlorodibenzodioxin	decreases expression	2
Valproic Acid	increases expression, affects expression	2
Cyclosporine	increases expression	2
TAK-243	decreases sumoylation	1
tris(1,3-dichloro-2-propyl)phosphate	increases expression	1
perfluorooctanoic acid	decreases expression	1
2,3-bis(3’-hydroxybenzyl)butyrolactone	affects cotreatment, increases expression	1
di-n-butylphosphoric acid	affects expression	1
jinfukang	decreases expression	1
Sunitinib	increases expression	1
Troglitazone	decreases expression	1
Acetaminophen	increases expression	1
Air Pollutants	affects expression, affects methylation, increases abundance	1
Benzene	increases expression	1
Coumestrol	increases expression, affects cotreatment	1
Enzyme Inhibitors	decreases activity, increases O-linked glycosylation	1
Estradiol	increases expression	1
Formaldehyde	decreases expression	1
Hydrogen Peroxide	increases expression	1
Ivermectin	decreases expression	1
Plant Extracts	affects cotreatment, increases expression	1
Quercetin	decreases expression	1
Silicon Dioxide	increases expression	1
Tretinoin	decreases expression	1
7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide	decreases expression	1
Aflatoxin B1	increases expression	1
Sodium Selenite	decreases expression	1
Particulate Matter	affects expression, affects methylation, 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
CHEMBL5697446	Binding	Inhibition of TAF5 (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

Cellosaurus cell lines

3 cell lines: 3 embryonic stem cell

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

Cellosaurus	Name	Category	Sex
CVCL_A6Y7	SEES3-1V human TAF5, clone1	Embryonic stem cell	Male
CVCL_A6Y8	SEES3-1V human TAF5, clone2	Embryonic stem cell	Male
CVCL_A6Y9	SEES3-1V human TAF5, clone3	Embryonic stem cell	Male

Clinical trials (associated diseases)

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