ZNHIT6

Chr 1

zinc finger HIT-type containing 6

Also known as: BCD1, C1orf181, NY-BR-75

Enables ATPase binding activity; TFIID-class transcription factor complex binding activity; and identical protein binding activity. Involved in box C/D snoRNP assembly; protein complex oligomerization; and snoRNA localization. Located in extracellular exosome. Part of pre-snoRNP complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
1.16
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.16LOEUF
pLI 0.000
Z-score 0.93
OE 0.80 (0.561.16)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.30Z-score
OE missense 0.95 (0.851.05)
233 obs / 246.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.80 (0.561.16)
00.351.4
Missense OE?0.95 (0.851.05)
00.61.4
Synonymous OE?0.96
01.21.6
LoF obs/exp: 20 / 25.0Missense obs/exp: 233 / 246.1Syn Z: 0.27

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZNHIT6 · 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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