Intellectual disability, autosomal recessive 60

Summary

Intellectual disability, autosomal recessive 60 (MONDO:0044313) is a disease caused by TAF13 (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: TAF13 (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	intellectual disability, autosomal recessive 60
Mondo ID	MONDO:0044313
OMIM	617432
DOID	DOID:0081222
UMLS	C4479476
MedGen	1373351
GARD	0025890
Is cancer (heuristic)	no

Also known as: intellectual disability, autosomal recessive 60 · mental retardation, autosomal recessive 60 · MRT60

Data availability: 5 ClinVar variants · 4 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › nervous system disorder › neurodevelopmental disorder › intellectual disability › non-syndromic intellectual disability › autosomal recessive non-syndromic intellectual disability › intellectual disability, autosomal recessive 60

Related subtypes (67): intellectual disability, autosomal recessive 1, intellectual disability, autosomal recessive 2, intellectual disability, autosomal recessive 3, intellectual disability, autosomal recessive 12, intellectual disability, autosomal recessive 5, intellectual disability, autosomal recessive 6, intellectual disability, autosomal recessive 7, intellectual disability, autosomal recessive 9, intellectual disability, autosomal recessive 10, intellectual disability, autosomal recessive 11, intellectual disability, autosomal recessive 4, intellectual disability, autosomal recessive 13, intellectual disability, autosomal recessive 14, Rafiq syndrome, intellectual disability, autosomal recessive 16, intellectual disability, autosomal recessive 18, intellectual disability, autosomal recessive 31, intellectual disability, autosomal recessive 29, intellectual disability, autosomal recessive 27, intellectual disability, autosomal recessive 33, intellectual disability, autosomal recessive 30, intellectual disability, autosomal recessive 19, intellectual disability, autosomal recessive 23, intellectual disability, autosomal recessive 24, intellectual disability, autosomal recessive 25, intellectual disability, autosomal recessive 28, intellectual disability, autosomal recessive 34, intellectual disability, autosomal recessive 42, intellectual disability, autosomal recessive 43, intellectual disability, autosomal recessive 44, intellectual disability, autosomal recessive 45, intellectual disability, autosomal recessive 46, intellectual disability, autosomal recessive 47, Al-Raqad syndrome, intellectual disability, autosomal recessive 50, intellectual disability, autosomal recessive 51, intellectual disability, autosomal recessive 52, intellectual disability, autosomal recessive 54, intellectual disability, autosomal recessive 56, intellectual developmental disorder, autosomal recessive 74, intellectual disability, autosomal recessive 57, intellectual disability, autosomal recessive 58, intellectual disability, autosomal recessive 59, pontocerebellar hypoplasia type 1, intellectual disability, autosomal recessive 64, intellectual disability, autosomal recessive 65, intellectual developmental disorder, autosomal recessive 73, intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, intellectual disability, autosomal recessive 61, intellectual developmental disorder, autosomal recessive 76, intellectual developmental disorder, autosomal recessive 77, intellectual disability, autosomal recessive 66, intellectual developmental disorder, autosomal recessive 67, intellectual developmental disorder, autosomal recessive 68, intellectual developmental disorder, autosomal recessive 69, intellectual developmental disorder, autosomal recessive 70, intellectual developmental disorder, autosomal recessive 71, intellectual developmental disorder, autosomal recessive 72, glycosylphosphatidylinositol biosynthesis defect 16, intellectual disability, autosomal recessive 63, adenosine kinase deficiency, intellectual developmental disorder, autosomal recessive 78, intellectual developmental disorder, autosomal recessive 79, intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, intellectual developmental disorder, autosomal recessive 81, intellectual developmental disorder, autosomal recessive 82, intellectual developmental disorder, autosomal recessive 83

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

5 retrieved; paginated sample, class counts are floors:

1 uncertain significance, 1 likely pathogenic, 1 benign, 1 pathogenic/likely pathogenic, 1 pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
375726	NM_005645.4(TAF13):c.119T>A (p.Met40Lys)	TAF13	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
375727	NM_005645.4(TAF13):c.92T>A (p.Leu31His)	TAF13	Pathogenic	criteria provided, single submitter
1299252	NM_005645.4(TAF13):c.204+1G>T	TAF13	Likely pathogenic	criteria provided, single submitter
1030003	NM_005645.4(TAF13):c.122A>G (p.Tyr41Cys)	TAF13	Uncertain significance	criteria provided, single submitter
2585673	NM_005645.4(TAF13):c.-2G>A	TAF13	Benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · Orphanet: 1 · 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
TAF13	Strong	Autosomal recessive	intellectual disability, autosomal recessive 60	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TAF13	Orphanet:2512	Autosomal recessive primary microcephaly

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
TAF13	HGNC:11546	ENSG00000197780	Q15543	Transcription initiation factor TFIID subunit 13	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TAF13	Transcription initiation factor TFIID subunit 13	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: 0 · Unknown: 1 · 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
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TAF13	Other/Unknown	no		TFIID_TAF13, Histone-fold

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
gingival epithelium	1
lateral nuclear group of thalamus	1
medial globus pallidus	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TAF13	270	ubiquitous	marker	medial globus pallidus, lateral nuclear group of thalamus, gingival epithelium

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TAF13	887

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TAF13	Q15543	28

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 21. 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	TAF13
RNA Polymerase II HIV Promoter Escape	1	233.1×	0.013	TAF13
RNA Polymerase II Promoter Escape	1	233.1×	0.013	TAF13
RNA Polymerase II Transcription Pre-Initiation And Promoter Opening	1	233.1×	0.013	TAF13
RNA Polymerase II Transcription Initiation	1	233.1×	0.013	TAF13
RNA Polymerase II Transcription Initiation And Promoter Clearance	1	233.1×	0.013	TAF13
Transcription of the HIV genome	1	173.0×	0.013	TAF13
Late Phase of HIV Life Cycle	1	167.9×	0.013	TAF13
HIV Life Cycle	1	160.8×	0.013	TAF13
RNA polymerase II transcribes snRNA genes	1	154.3×	0.013	TAF13
RNA Polymerase II Pre-transcription Events	1	137.6×	0.013	TAF13
Regulation of TP53 Activity	1	132.8×	0.013	TAF13
HIV Infection	1	119.0×	0.013	TAF13
Regulation of TP53 Activity through Phosphorylation	1	117.7×	0.013	TAF13
Transcriptional Regulation by TP53	1	62.1×	0.023	TAF13
Viral Infection Pathways	1	30.8×	0.043	TAF13
Infectious disease	1	24.8×	0.050	TAF13
RNA Polymerase II Transcription	1	22.5×	0.052	TAF13
Gene expression (Transcription)	1	17.8×	0.062	TAF13
Generic Transcription Pathway	1	15.1×	0.070	TAF13
Disease	1	13.1×	0.076	TAF13

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
DNA-templated transcription initiation	1	936.2×	0.004	TAF13
transcription initiation at RNA polymerase II promoter	1	374.5×	0.004	TAF13
mRNA transcription by RNA polymerase II	1	330.4×	0.004	TAF13
RNA polymerase II preinitiation complex assembly	1	271.8×	0.004	TAF13
positive regulation of transcription initiation by RNA polymerase II	1	271.8×	0.004	TAF13
transcription by RNA polymerase II	1	70.5×	0.014	TAF13

Therapeutics

Drug target analysis

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

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
TAF13	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

0 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.

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	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	TAF13

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
TAF13	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.