CORO7-PAM16

Chr 16

CORO7-PAM16 readthrough

This gene encodes a fusion protein that combines sequences from coronin 7 (involved in actin cytoskeleton regulation) and PAM16 (a component of the mitochondrial protein import machinery). The gene is extremely intolerant to loss-of-function variants (pLI near 1.0), but associated diseases and inheritance patterns have not been established. Clinical significance of variants in this read-through transcript remains unclear.

ResearchSummary from RefSeq
LOEUF 0.94
Clinical SummaryCORO7-PAM16
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.94LOEUF
pLI 0.000
Z-score 1.96
OE 0.74 (0.580.94)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
-0.40Z-score
OE missense 1.04 (0.981.11)
687 obs / 657.8 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.74 (0.580.94)
00.351.4
Missense OE1.04 (0.981.11)
00.61.4
Synonymous OE1.08
01.21.6
LoF obs/exp: 47 / 63.9Missense obs/exp: 687 / 657.8Syn Z: -1.06

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CORO7-PAM16 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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