TAF8

Chr 6

TATA-box binding protein associated factor 8

Also known as: II, NEDMLHB, TAF, TAF(II)43, TAFII-43, TAFII43, TBN

This gene encodes one of several TATA-binding protein (TBP)-associated factors (TAFs), which are integral subunits of the general transcription factor complex TFIID. TFIID recognizes the core promoter of many genes and nucleates the assembly of a transcription preinitiation complex containing RNA polymerase II and other initiation factors. The protein encoded by this gene contains an H4-like histone fold domain, and interacts with several subunits of TFIID including TBP and the histone-fold protein TAF10. Alternatively spliced transcript variants have been described, but their biological validity has not been determined. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.57
LOEUF
LOF
Mechanism· predicted
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GeneReview available — TAF8
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.57LOEUF
pLI 0.000
Z-score -0.25
OE 1.07 (0.741.57)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.24Z-score
OE missense 0.95 (0.841.08)
186 obs / 195.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.07 (0.741.57)
00.351.4
Missense OE?0.95 (0.841.08)
00.61.4
Synonymous OE?1.25
01.21.6
LoF obs/exp: 18 / 16.9Missense obs/exp: 186 / 195.3Syn Z: -1.77

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TAF8 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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