KNOP1

Chr 16

lysine rich nucleolar protein 1

Also known as: 101F10.1, C16orf88, FAM191A, TSG118

The protein encoded by this gene is a nucleolar protein that interacts with zinc finger 106 protein. The encoded protein has several of the same characteristics as nucleostemin and may be involved in testis development. [provided by RefSeq, Feb 2017]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
1.25
LOEUF
DN
Mechanism· predicted
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?
1.25LOEUF
pLI 0.000
Z-score 0.84
OE 0.77 (0.491.25)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.13Z-score
OE missense 0.98 (0.881.08)
252 obs / 257.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.77 (0.491.25)
00.351.4
Missense OE?0.98 (0.881.08)
00.61.4
Synonymous OE?1.00
01.21.6
LoF obs/exp: 12 / 15.6Missense obs/exp: 252 / 257.8Syn Z: 0.01

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

KNOP1 · 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.

Search ClinicalTrials.gov →