ZNF639

Chr 3

zinc finger protein 639

Also known as: ANC-2H01, ANC_2H01, ZASC1

This gene encodes a member of the Kruppel-like zinc finger family of proteins. Amplification and overexpression of this gene have been observed in esophageal squamous cell carcinoma. The encoded protein has been shown to bind DNA in a sequence-specific manner and may regulate HIV-1 gene expression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2014]

OMIMResearchGenerating clinical summary…
LOEUF 0.86
Clinical SummaryZNF639
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
41 VUS of 46 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.86LOEUF
pLI 0.001
Z-score 1.99
OE 0.48 (0.280.86)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.27Z-score
OE missense 0.77 (0.680.87)
187 obs / 242.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.48 (0.280.86)
00.351.4
Missense OE?0.77 (0.680.87)
00.61.4
Synonymous OE?0.99
01.21.6
LoF obs/exp: 8 / 16.8Missense obs/exp: 187 / 242.5Syn Z: 0.05

ClinVar Variant Classifications

46 submitted variants in ClinVar

Classification Summary

VUS41
41
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
0
0
0
VUS
0
41
0
0
41
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total0410041

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

View in ClinVar →

27 pathogenic / likely-pathogenic (of 35) ClinVar copy-number / structural variants overlap ZNF639 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

ZNF639 · 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 →