ZFP41

Chr 8

ZFP41 zinc finger protein

Also known as: ZNF753, zfp-41

ZFP41 encodes a DNA-binding transcriptional regulator that is involved in meiosis during spermatogenesis. The gene shows low constraint against loss-of-function variants (pLI 0.0004, LOEUF 1.82), and no definitive disease associations have been established in humans. Currently, there is insufficient evidence to support ZFP41 as a cause of pediatric neurological disorders.

Summary from RefSeq, UniProt
Research Assistant →
0
Active trials
0
Pubs (1 yr)
61
P/LP submissions
0%
P/LP missense
1.82
LOEUF
DN
Mechanism· predicted
Clinical SummaryZFP41
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
60 unique Pathogenic / Likely Pathogenic· 55 VUS of 126 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.82LOEUF
pLI 0.000
Z-score -0.06
OE 1.03 (0.531.82)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.26Z-score
OE missense 1.07 (0.931.23)
134 obs / 125.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.03 (0.531.82)
00.351.4
Missense OE1.07 (0.931.23)
00.61.4
Synonymous OE1.07
01.21.6
LoF obs/exp: 5 / 4.9Missense obs/exp: 134 / 125.8Syn Z: -0.40
DN
0.76top 25%
GOF
0.6346th %ile
LOF
0.4135th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

126 submitted variants in ClinVar

Classification Summary

Pathogenic55
Likely Pathogenic5
VUS55
Likely Benign4
55
Pathogenic
5
Likely Pathogenic
55
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
55
0
55
Likely Pathogenic
0
0
5
0
5
VUS
0
45
10
0
55
Likely Benign
0
3
0
1
4
Benign
0
0
0
0
0
Total048701119

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

View in ClinVar →

Protein Context — Lollipop Plot

ZFP41 · 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
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