CRAMP1

Chr 16

cramped chromatin regulator 1

Also known as: CRAMP1L, HN1L, TCE4

Predicted to enable chromatin binding activity. Predicted to be involved in pattern specification process. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
LOFmechanismLOEUF 0.42
Clinical SummaryCRAMP1
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.26) despite low pLI — interpret in context.
📋
ClinVar Variants
204 VUS of 232 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Moderate LoF intolerance
LoF Constraint?
0.42LOEUF
pLI 0.050
Z-score 4.70
OE 0.26 (0.160.42)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.37Z-score
OE missense 0.86 (0.800.92)
607 obs / 709.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.26 (0.160.42)
00.351.4
Missense OE?0.86 (0.800.92)
00.61.4
Synonymous OE?1.11
01.21.6
LoF obs/exp: 12 / 46.6Missense obs/exp: 607 / 709.7Syn Z: -1.57

This gene — mechanism propensity

DN
0.3495th %ile
GOF
0.3094th %ile
LOF
0.71top 10%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.42

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

232 submitted variants in ClinVar

Classification Summary

VUS204
Likely Benign12
204
VUS
12
Likely Benign

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
204
0
0
204
Likely Benign
0
11
0
1
12
Benign
0
0
0
0
0
Total021501216

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

View in ClinVar →

41 pathogenic / likely-pathogenic (of 61) ClinVar copy-number / structural variants overlap CRAMP1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →

Protein Context — Lollipop Plot

CRAMP1 · 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 →