intellectual disability, X-linked, syndromic 33

Summary

intellectual disability, X-linked, syndromic 33 (MONDO:0010500) is a disease caused by TAF1 (GenCC Definitive), with 1 cohort gene.

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Causal gene: TAF1 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 99
• Phenotypes (HPO): 45

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		14	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

45 HPO clinical features (Orphanet curated; top 45 by frequency):

HPO ID	Term	Frequency
HP:0000369	Low-set ears	Very frequent (80-99%)
HP:0000411	Protruding ear	Very frequent (80-99%)
HP:0000750	Delayed speech and language development	Very frequent (80-99%)
HP:0001249	Intellectual disability	Very frequent (80-99%)
HP:0001263	Global developmental delay	Very frequent (80-99%)
HP:0001290	Generalized hypotonia	Very frequent (80-99%)
HP:0001999	Abnormal facial shape	Very frequent (80-99%)
HP:0002079	Hypoplasia of the corpus callosum	Very frequent (80-99%)
HP:0002194	Delayed gross motor development	Very frequent (80-99%)
HP:0006863	Severe expressive language delay	Very frequent (80-99%)
HP:0008468	Abnormal sacral segmentation	Very frequent (80-99%)
HP:0008472	Prominent protruding coccyx	Very frequent (80-99%)
HP:0008897	Postnatal growth retardation	Very frequent (80-99%)
HP:0000218	High palate	Frequent (30-79%)
HP:0000276	Long face	Frequent (30-79%)
HP:0000307	Pointed chin	Frequent (30-79%)
HP:0000336	Prominent supraorbital ridges	Frequent (30-79%)
HP:0000343	Long philtrum	Frequent (30-79%)
HP:0000365	Hearing impairment	Frequent (30-79%)
HP:0000389	Chronic otitis media	Frequent (30-79%)
HP:0000463	Anteverted nares	Frequent (30-79%)
HP:0000486	Strabismus	Frequent (30-79%)
HP:0000494	Downslanted palpebral fissures	Frequent (30-79%)
HP:0000729	Autistic behavior	Frequent (30-79%)
HP:0001382	Joint hypermobility	Frequent (30-79%)
HP:0002342	Intellectual disability, moderate	Frequent (30-79%)
HP:0200136	Oral-pharyngeal dysphagia	Frequent (30-79%)
HP:0000219	Thin upper lip vermilion	Occasional (5-29%)
HP:0000252	Microcephaly	Occasional (5-29%)
HP:0000286	Epicanthus	Occasional (5-29%)
HP:0000347	Micrognathia	Occasional (5-29%)
HP:0000414	Bulbous nose	Occasional (5-29%)
HP:0000455	Broad nasal tip	Occasional (5-29%)
HP:0000490	Deeply set eye	Occasional (5-29%)
HP:0000527	Long eyelashes	Occasional (5-29%)
HP:0000574	Thick eyebrow	Occasional (5-29%)
HP:0000664	Synophrys	Occasional (5-29%)
HP:0001250	Seizure	Occasional (5-29%)
HP:0001264	Spastic diplegia	Occasional (5-29%)
HP:0001332	Dystonia	Occasional (5-29%)
HP:0001337	Tremor	Occasional (5-29%)
HP:0001513	Obesity	Occasional (5-29%)
HP:0002395	Lower limb hyperreflexia	Occasional (5-29%)
HP:0005280	Depressed nasal bridge	Occasional (5-29%)
HP:0012032	Lipoma	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	intellectual disability, X-linked, syndromic 33
Mondo ID	MONDO:0010500
OMIM	300966
Orphanet	480907
UMLS	C4225418
MedGen	895979
GARD	0024731
Is cancer (heuristic)	no

Also known as: intellectual developmental disorder, X-linked syndromic 33, X-linked recessive · intellectual disability, X-linked, syndromic type 33 · mental retardation, X-linked, syndromic 33 · mental retardation, X-linked, syndromic type 33 · MRXS33 · TAF1 X-linked syndromic intellectual disability · X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome · X-linked syndromic intellectual disability caused by mutation in TAF1

Data availability: 99 ClinVar variants · 5 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › congenital nervous system disorder › intellectual disability, X-linked, syndromic 33

Related subtypes (216): polymicrogyria, congenital myasthenic syndrome with tubular aggregates, prenatal-onset spinal muscular atrophy with congenital bone fractures, anencephaly, cerebral cavernous malformation, meningocele, progressive external ophthalmoplegia, congenital nystagmus, congenital toxoplasmosis, congenital contractural arachnodactyly, congenital trigeminal anesthesia, familial congenital palsy of trochlear nerve, Myhre syndrome, Aase-Smith syndrome, KBG syndrome, autosomal dominant primary microcephaly, Mobius syndrome, MYH7-related skeletal myopathy, congenital stationary night blindness autosomal dominant 2, Prader-Willi syndrome, congenital myopathy 7A, myosin storage, autosomal dominant, Smith-Magenis syndrome, spina bifida, Freeman-Sheldon syndrome, isolated cerebellar hypoplasia/agenesis, Chediak-Higashi syndrome, Cohen syndrome, multiple pterygium-malignant hyperthermia syndrome, corpus callosum, agenesis of, congenital lactic acidosis, Saguenay-Lac-Saint-Jean type, facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome, diastematomyelia, EEM syndrome, Mowat-Wilson syndrome, Johanson-Blizzard syndrome, intellectual disability, Buenos-Aires type, myasthenia, congenital, refractory to acetylcholinesterase inhibitors, congenital myasthenic syndrome 6, Bailey-Bloch congenital myopathy, congenital stationary night blindness 1B, radioulnar synostosis-developmental delay-hypotonia syndrome, Schinzel-Giedion syndrome, schizencephaly, intellectual disability, Wolff type, X-linked intellectual disability-plagiocephaly syndrome, X-linked adrenal hypoplasia congenita, syndromic X-linked intellectual disability 7, syndromic X-linked intellectual disability Shashi type, syndromic X-linked intellectual disability Lubs type, syndromic X-linked intellectual disability Abidi type, syndromic X-linked intellectual disability Siderius type, X-linked intellectual disability, Cabezas type, X-linked intellectual disability-cubitus valgus-dysmorphism syndrome, syndromic X-linked intellectual disability Claes-Jensen type, moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome, multiple congenital anomalies-hypotonia-seizures syndrome 2, developmental and epileptic encephalopathy, 36, blepharophimosis - intellectual disability syndrome, MKB type, X-linked intellectual disability-short stature-overweight syndrome, syndromic X-linked intellectual disability 34, infantile-onset X-linked spinal muscular atrophy, syndromic X-linked intellectual disability 5, holoprosencephaly-hypokinesia-congenital contractures syndrome, X-linked intellectual disability with marfanoid habitus, Wieacker-Wolff syndrome, MERRF syndrome, macrocephaly-spastic paraplegia-dysmorphism syndrome, intellectual disability-sparse hair-brachydactyly syndrome, myofibrillar myopathy 1, isolated hereditary congenital facial paralysis, fibrosis of extraocular muscles, congenital, 2, Pierpont syndrome, congenital cataracts-facial dysmorphism-neuropathy syndrome, Bohring-Opitz syndrome, PHACE syndrome, B4GALT1-congenital disorder of glycosylation, developmental malformations-deafness-dystonia syndrome, sensory ataxic neuropathy, dysarthria, and ophthalmoparesis, AICA-ribosiduria, myofibrillar myopathy 3, fibrosis of extraocular muscles, congenital, 3c, myofibrillar myopathy 4, myofibrillar myopathy 5, cone-rod synaptic disorder, congenital nonprogressive, congenital stationary night blindness autosomal dominant 3, congenital stationary night blindness autosomal dominant 1, intellectual disability, autosomal recessive 12, progressive myoclonic epilepsy type 3, chromosome 15q13.3 microdeletion syndrome, combined pituitary hormone deficiencies, genetic form, congenital stationary night blindness 1D, DYRK1A-related intellectual disability syndrome, Pitt-Hopkins-like syndrome 2, developmental and epileptic encephalopathy, 15, Schuurs-Hoeijmakers syndrome, severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, severe intellectual disability-progressive spastic diplegia syndrome, hypotonia, infantile, with psychomotor retardation and characteristic facies, developmental and epileptic encephalopathy, 18, CTCF-related neurodevelopmental disorder, autism spectrum disorder due to AUTS2 deficiency, developmental and epileptic encephalopathy, 23, ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder, Bardet-Biedl syndrome 11, cerebellar-facial-dental syndrome, fibrosis of extraocular muscles, congenital, 5, congenital myasthenic syndrome 15, lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, congenital myasthenic syndrome 18, autosomal recessive spinocerebellar ataxia 20, Houge-Janssens syndrome 1, intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome, congenital stationary night blindness 1G, hypomyelinating leukodystrophy 10, developmental and epileptic encephalopathy, 50, congenital insensitivity to pain-hypohidrosis syndrome, macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome, SLC39A8-CDG, spastic paraplegia-severe developmental delay-epilepsy syndrome, cardiac anomalies - developmental delay - facial dysmorphism syndrome, severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome, intellectual disability, autosomal recessive 53, TELO2-related intellectual disability-neurodevelopmental disorder, micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, autosomal recessive limb-girdle muscular dystrophy type 2Y, myofibrillar myopathy 7, short stature-brachydactyly-obesity-global developmental delay syndrome, autosomal recessive limb-girdle muscular dystrophy type 2R1, severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome, congenital laryngeal palsy, congenital or early infantile CACH syndrome, congenital epulis, severe congenital nemaline myopathy, intermediate nemaline myopathy, typical nemaline myopathy, childhood-onset nemaline myopathy, adult-onset nemaline myopathy, qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan, holoprosencephaly, congenital insensitivity to pain with hyperhidrosis, congenital hydrocephalus, familial congenital mirror movements, macrocephaly-short stature-paraplegia syndrome, cephalocele, mitochondrial neurogastrointestinal encephalomyopathy, X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome, 7p22.1 microduplication syndrome, congenital achiasma, congenital retinal arteriovenous communication, 3q27.3 microdeletion syndrome, Prader-Willi-like syndrome, 9q31.1q31.3 microdeletion syndrome, congenital oculomotor nerve palsy, congenital abducens nerve palsy, neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome, congenital insensitivity to pain with severe intellectual disability, X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome, global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome, lissencephaly spectrum disorders, hyaline body myopathy, 22q11.2 deletion syndrome, craniorachischisis, Leber congenital amaurosis, Ritscher-Schinzel syndrome, Rubinstein-Taybi syndrome, X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome, X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome, X-linked intellectual disability, Pai type, X-linked intellectual disability, Stevenson type, X-linked intellectual disability, Stoll type, congenital muscular dystrophy, congenital vitreoretinal dysplasia, periventricular nodular heterotopia, postsynaptic congenital myasthenic syndrome, subcortical band heterotopia, congenital fibrosis of extraocular muscles type 1, Al Gazali Khidr Prem Chandran syndrome, distal arthrogryposis Moore weaver type, congenital myotonic dystrophy, myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, intellectual disability, autosomal dominant 47, intellectual disability, autosomal dominant 48, spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis, myasthenic syndrome, congenital, 23, presynaptic, myasthenic syndrome, congenital, 24, presynaptic, myasthenic syndrome, congenital, 25, presynaptic, developmental and epileptic encephalopathy, 77, night blindness, congenital stationary, type1i, neuropathy, congenital hypomelinating, congenital axonal neuropathy with encephalopathy, developmental and epileptic encephalopathy, 73, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, isolated exencephaly, myasthenic syndrome, congenital, 22, intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 9q33.3q34.11 microdeletion syndrome, congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome, early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, SIN3A-related intellectual disability syndrome, childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder, X-linked congenital stationary night blindness, neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, FOXG1 disorder, alpha-actinopathy, TPM3-related myopathy, X-linked recessive mitochondrial myopathy, RYR1-related myopathy, TTN-related myopathy, TPM2-related myopathy, myopathy caused by variation in POMGNT1, central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, segmental spinal dysgenesis, myopathy, myofibrillar, 13, with rimmed vacuoles, congenital neuronal ceroid lipofuscinosis 10

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

99 retrieved; paginated sample, class counts are floors:

53 uncertain significance, 14 likely pathogenic, 7 conflicting classifications of pathogenicity, 6 pathogenic, 5 benign/likely benign, 4 pathogenic/likely pathogenic, 4 likely benign, 3 likely pathogenic; association, 2 uncertain significance; association, 1 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1344721	NM_004606.5(TAF1):c.1454T>A (p.Ile485Asn)	TAF1	Pathogenic	criteria provided, single submitter
1344726	NM_004606.5(TAF1):c.4295G>A (p.Arg1432His)	TAF1	Pathogenic	criteria provided, multiple submitters, no conflicts
219114	NM_004606.5(TAF1):c.3950T>C (p.Ile1317Thr)	TAF1	Pathogenic	criteria provided, multiple submitters, no conflicts
219118	NM_004606.5(TAF1):c.2866G>C (p.Asp956His)	TAF1	Pathogenic	criteria provided, single submitter
599303	NM_004606.5(TAF1):c.3508C>T (p.Arg1170Cys)	TAF1	Pathogenic	criteria provided, single submitter
689675	NM_004606.5(TAF1):c.4489A>C (p.Asn1497His)	TAF1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
694246	NM_004606.5(TAF1):c.2608C>T (p.Arg870Cys)	TAF1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
694247	NM_004606.5(TAF1):c.2975C>T (p.Thr992Ile)	TAF1	Pathogenic	criteria provided, single submitter
694253	NM_004606.5(TAF1):c.4520C>T (p.Ala1507Val)	TAF1	Pathogenic/Likely pathogenic	no assertion criteria provided
985730	NM_004606.5(TAF1):c.1207T>G (p.Phe403Val)	TAF1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1028276	NM_004606.5(TAF1):c.2120G>A (p.Arg707Gln)	TAF1	Likely pathogenic	criteria provided, single submitter
1184816	NM_004606.5(TAF1):c.1A>T (p.Met1Leu)	TAF1	Likely pathogenic; association	no assertion criteria provided
1301994	NM_004606.5(TAF1):c.4748A>G (p.Tyr1583Cys)	TAF1	Likely pathogenic	no assertion criteria provided
1334495	NM_004606.5(TAF1):c.4286A>C (p.Gln1429Pro)	TAF1	Likely pathogenic	criteria provided, single submitter
219115	NM_004606.5(TAF1):c.2359T>C (p.Cys787Arg)	TAF1	Likely pathogenic	criteria provided, single submitter
2504010	NM_004606.5(TAF1):c.3407-1G>A	TAF1	Likely pathogenic	criteria provided, single submitter
2506487	NM_004606.5(TAF1):c.2414G>A (p.Arg805Gln)	TAF1	Likely pathogenic	criteria provided, single submitter
2573825	NM_004606.5(TAF1):c.3701G>A (p.Arg1234Gln)	TAF1	Likely pathogenic	criteria provided, multiple submitters, no conflicts
3381218	NM_004606.5(TAF1):c.2324G>T (p.Arg775Leu)	TAF1	Likely pathogenic	criteria provided, single submitter
372844	NM_004606.5(TAF1):c.2894C>T (p.Ser965Phe)	TAF1	Likely pathogenic	criteria provided, single submitter
419442	NM_004606.5(TAF1):c.4394A>G (p.His1465Arg)	TAF1	Likely pathogenic	criteria provided, single submitter
430463	NM_004606.5(TAF1):c.3973G>A (p.Val1325Ile)	TAF1	Likely pathogenic	criteria provided, single submitter
545434	NM_004606.5(TAF1):c.4226C>T (p.Pro1409Leu)	TAF1	Likely pathogenic	criteria provided, single submitter
694242	NM_004606.5(TAF1):c.1520A>G (p.Asp507Gly)	TAF1	Likely pathogenic	no assertion criteria provided
694243	NM_004606.5(TAF1):c.1979G>A (p.Gly660Asp)	TAF1	Likely pathogenic; association	no assertion criteria provided
694248	NM_004606.5(TAF1):c.3700C>T (p.Arg1234Trp)	TAF1	Likely pathogenic	no assertion criteria provided
694251	NM_004606.5(TAF1):c.4382A>T (p.Asn1461Ile)	TAF1	Likely pathogenic; association	no assertion criteria provided
1038609	NM_004606.5(TAF1):c.2617A>G (p.Thr873Ala)	TAF1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1700566	NM_004606.5(TAF1):c.3648A>G (p.Gln1216=)	TAF1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
219116	NM_004606.5(TAF1):c.3676C>T (p.Arg1226Trp)	TAF1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 11 · Orphanet: 2 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
TAF1	Definitive	X-linked	intellectual disability, X-linked, syndromic 33	11

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TAF1	Orphanet:480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
TAF1	Orphanet:53351	X-linked dystonia-parkinsonism

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
TAF1	HGNC:11535	ENSG00000147133	P21675	Transcription initiation factor TFIID subunit 1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TAF1	Transcription initiation factor TFIID subunit 1	The TFIID basal transcription factor complex plays a major role in the initiation of RNA polymerase II (Pol II)-dependent transcription.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TAF1	Transcription factor	no	2.3.1.48	Bromodomain, TAF_II_230-bd, TAF1_animal

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
calcaneal tendon	1
sural nerve	1
tendon	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TAF1	262	ubiquitous	marker	sural nerve, calcaneal tendon, tendon

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TAF1	3,445

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TAF1	P21675	64

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 20. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
HIV Transcription Initiation	1	233.1×	0.013	TAF1
RNA Polymerase II HIV Promoter Escape	1	233.1×	0.013	TAF1
RNA Polymerase II Promoter Escape	1	233.1×	0.013	TAF1
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening	1	233.1×	0.013	TAF1
RNA Polymerase II Transcription Initiation	1	233.1×	0.013	TAF1
RNA Polymerase II Transcription Initiation And Promoter Clearance	1	233.1×	0.013	TAF1
Transcription of the HIV genome	1	173.0×	0.013	TAF1
Late Phase of HIV Life Cycle	1	167.9×	0.013	TAF1
HIV Life Cycle	1	160.8×	0.013	TAF1
RNA Polymerase II Pre-transcription Events	1	137.6×	0.013	TAF1
Regulation of TP53 Activity	1	132.8×	0.013	TAF1
HIV Infection	1	119.0×	0.013	TAF1
Regulation of TP53 Activity through Phosphorylation	1	117.7×	0.013	TAF1
Transcriptional Regulation by TP53	1	62.1×	0.023	TAF1
Viral Infection Pathways	1	30.8×	0.043	TAF1
Infectious disease	1	24.8×	0.050	TAF1
RNA Polymerase II Transcription	1	22.5×	0.052	TAF1
Gene expression (Transcription)	1	17.8×	0.062	TAF1
Generic Transcription Pathway	1	15.1×	0.070	TAF1
Disease	1	13.1×	0.076	TAF1

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
positive regulation of androgen receptor signaling pathway	1	16852.0×	0.001	TAF1
negative regulation of protein autoubiquitination	1	8426.0×	0.001	TAF1
transcription initiation at RNA polymerase I promoter	1	1872.4×	0.004	TAF1
regulation of cell cycle G1/S phase transition	1	1532.0×	0.004	TAF1
negative regulation of signal transduction by p53 class mediator	1	1203.7×	0.004	TAF1
cellular response to ATP	1	887.0×	0.004	TAF1
negative regulation of ubiquitin-dependent protein catabolic process	1	842.6×	0.004	TAF1
midbrain development	1	601.9×	0.005	TAF1
regulation of signal transduction by p53 class mediator	1	383.0×	0.006	TAF1
transcription initiation at RNA polymerase II promoter	1	374.5×	0.006	TAF1
mRNA transcription by RNA polymerase II	1	330.4×	0.006	TAF1
cellular response to UV	1	295.6×	0.006	TAF1
RNA polymerase II preinitiation complex assembly	1	271.8×	0.006	TAF1
positive regulation of transcription initiation by RNA polymerase II	1	271.8×	0.006	TAF1
positive regulation of proteasomal ubiquitin-dependent protein catabolic process	1	210.7×	0.008	TAF1
protein autophosphorylation	1	145.3×	0.010	TAF1
protein polyubiquitination	1	115.4×	0.012	TAF1
ubiquitin-dependent protein catabolic process	1	74.2×	0.017	TAF1
transcription by RNA polymerase II	1	70.5×	0.017	TAF1
negative regulation of gene expression	1	69.1×	0.017	TAF1
protein stabilization	1	66.9×	0.017	TAF1
DNA damage response	1	53.5×	0.020	TAF1
negative regulation of transcription by RNA polymerase II	1	17.7×	0.059	TAF1
positive regulation of transcription by RNA polymerase II	1	14.9×	0.067	TAF1

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 1 · Phased (≥1): 1 · Undrugged: 0

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TAF1	3	3

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
CERALASERTIB	3	TAF1
BI-2536	2	TAF1
AZD-5153	1	TAF1

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 1.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
TAF1	140	Binding:139, Functional:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
TAF1	2.3.1.48	histone acetyltransferase

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
TAF1	140

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

3 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Compound	Max phase	Cohort target (bioactivity)
CERALASERTIB	3	TAF1
BI-2536	2	TAF1
AZD-5153	1	TAF1

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	1	TAF1
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	0

Undrugged target profiles

0 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Clinical trials & evidence

Clinical trials

Clinical trials: 0.