ZNF277

Chr 7

zinc finger protein 277

Also known as: NRIF4, ZNF277P

The protein is a transcription factor that represses transcription of the tumor suppressor gene INK4A/ARF and modulates cellular senescence, possibly through interaction with the Polycomb group complex PRC1. Based on the extremely low pLI score and high LOEUF value, this gene appears highly tolerant to loss-of-function mutations, suggesting pathogenic variants are unlikely to cause disease through haploinsufficiency. No established neurogenetic disorders have been associated with ZNF277 mutations.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
1
Pubs (1 yr)
21
P/LP submissions
0%
P/LP missense
1.56
LOEUF
Mechanism
Clinical SummaryZNF277
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
21 unique Pathogenic / Likely Pathogenic· 61 VUS of 108 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.56LOEUF
pLI 0.000
Z-score -0.70
OE 1.15 (0.861.56)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.35Z-score
OE missense 0.94 (0.841.05)
213 obs / 227.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.15 (0.861.56)
00.351.4
Missense OE0.94 (0.841.05)
00.61.4
Synonymous OE0.99
01.21.6
LoF obs/exp: 30 / 26.1Missense obs/exp: 213 / 227.8Syn Z: 0.10

ClinVar Variant Classifications

108 submitted variants in ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic2
VUS61
Likely Benign9
Benign1
Conflicting1
19
Pathogenic
2
Likely Pathogenic
61
VUS
9
Likely Benign
1
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
19
0
19
Likely Pathogenic
0
0
2
0
2
VUS
1
43
17
0
61
Likely Benign
0
2
4
3
9
Benign
1
0
0
0
1
Conflicting
1
Total24542393

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ZNF277 · 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 →
Clinical Literature
Open Research Assistant →