CENPS-CORT

Chr 1

CENPS-CORT readthrough

Also known as: APITD1-CORT

This gene produces fusion proteins that contain sequences from both APITD1 (involved in apoptosis regulation) and cortistatin (a neuropeptide hormone). The gene appears to be tolerant to loss-of-function variants based on constraint metrics, and no clear disease associations have been established in the provided data.

ResearchSummary from RefSeq

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…

LOEUF 1.71

Clinical Summary— CENPS-CORT

⚡

Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

📋

ClinVar Variants

21 VUS of 25 total submissions

Explore recent and relevant literature in Research Assistant →

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

25 submitted variants in ClinVar

ClinVar

Classification Summary

VUS21

Likely Benign2

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	21	21
Likely Benign	2	2
Benign	0	0
Total	23	23

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

View in ClinVar →

35 pathogenic / likely-pathogenic (of 47) ClinVar copy-number / structural variants overlap CENPS-CORT — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →