CENPS-CORT

Chr 1

CENPS-CORT readthrough

Also known as: APITD1-CORT

NCBI Gene: 100526739ENSG00000251503

This locus represents naturally occurring read-through transcription between the neighboring APITD1 (apoptosis-inducing, TAF9-like domain 1) and CORT (cortistatin) genes. Alternative splicing results in multiple transcript variants, two of which encode fusion proteins that share sequence identity with the products of each individual gene. [provided by RefSeq, Aug 2011]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.71
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.71LOEUF
pLI 0.000
Z-score 0.02
OE 0.99 (0.58–1.71)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-1.11Z-score
OE missense 1.33 (1.15–1.56)
116 obs / 86.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.99 (0.58–1.71)
0≤0.351.4
Missense OE?1.33 (1.15–1.56)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 8 / 8.1Missense obs/exp: 116 / 86.9Syn Z: 0.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CENPS-CORT · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients