ZSCAN21

Chr 7

zinc finger and SCAN domain containing 21

Also known as: NY-REN-21, ZNF38, Zipro1

Enables DNA-binding transcription activator activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in positive regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
21
Pathogenic / LP
105
ClinVar variants
1
Pubs (1 yr)
0.2
Missense Z
1.43
LOEUF
Clinical SummaryZSCAN21
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
21 Pathogenic / Likely Pathogenic· 75 VUS of 105 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.43LOEUF
pLI 0.000
Z-score 0.13
OE 0.97 (0.671.43)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.25Z-score
OE missense 0.96 (0.861.06)
258 obs / 269.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.97 (0.671.43)
00.351.4
Missense OE0.96 (0.861.06)
00.61.4
Synonymous OE1.02
01.21.6
LoF obs/exp: 18 / 18.6Missense obs/exp: 258 / 269.3Syn Z: -0.15
DN
DN
0.6745th %ile
GOF
0.6151th %ile
LOF
0.4037th %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

105 submitted variants in ClinVar

Classification Summary

Pathogenic19
Likely Pathogenic2
VUS75
Likely Benign9
19
Pathogenic
2
Likely Pathogenic
75
VUS
9
Likely Benign

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
0
68
7
0
75
Likely Benign
0
8
1
0
9
Benign
0
0
0
0
0
Total076290105

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

View in ClinVar →

ZSCAN21 · 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
Landmark / reviewRecent case evidence
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗