HDAC7

Chr 12

histone deacetylase 7

Also known as: HD7, HD7A, HDAC7A

Histones play a critical role in transcriptional regulation, cell cycle progression, and developmental events. Histone acetylation/deacetylation alters chromosome structure and affects transcription factor access to DNA. The protein encoded by this gene has sequence homology to members of the histone deacetylase family. This gene is orthologous to mouse HDAC7 gene whose protein promotes repression mediated via the transcriptional corepressor SMRT. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtAuriculocondylar syndrome 4

Clinical highlights

Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
73
Pubs (1 yr)
P/LP submissions
P/LP missense
0.24
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint?
0.24LOEUF
pLI 1.000
Z-score 5.74
OE 0.12 (0.070.24)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
2.83Z-score
OE missense 0.67 (0.620.73)
403 obs / 597.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.12 (0.070.24)
00.351.4
Missense OE?0.67 (0.620.73)
00.61.4
Synonymous OE?1.01
01.21.6
LoF obs/exp: 6 / 49.6Missense obs/exp: 403 / 597.3Syn Z: -0.18

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

HDAC7 · 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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