C15ORF62

Chr 15

chromosome 15 open reading frame 62

NCBI Gene: 643338 ENSG00000188277 UniProt: A8K5M9

Predicted to enable small GTPase binding activity. Predicted to be involved in Rho protein signal transduction; positive regulation of cellular component biogenesis; and regulation of cell shape. Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.23

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.23LOEUF

pLI 0.035

Z-score 1.21

OE 0.48 (0.22–1.23)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.06Z-score

OE missense 0.71 (0.59–0.86)

77 obs / 108.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.48 (0.22–1.23)

0≤0.351.4

Missense OE?0.71 (0.59–0.86)

0≤0.61.4

Synonymous OE?0.79

0≤1.21.6

LoF obs/exp: 3 / 6.3Missense obs/exp: 77 / 108.0Syn Z: 1.11

Background carrier burden — how many people carry a rare variant somewhere in C15ORF62?

gnomAD v4 · ~700k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 140

218 rare PASS variants

Rare truncating (LoF)

1 in 2,700

42 rare PASS variants

Rare synonymous (reference)

1 in 960

98 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for C15ORF62. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~539k	1 in 210	1 in 3,700
South Asian	~40k	1 in 130	1 in 3,300
Remaining (unassigned)	~29k	1 in 130	1 in 2,600
European (Finnish)	~25k	1 in 390	≈ 1 in 24,000
African / African American	~21k	1 in 160	1 in 3,300
East Asian	~18k	1 in 120	1 in 3,000
Admixed American	~18k	1 in 92	1 in 3,000
Ashkenazi Jewish	~13k	1 in 410	none seen
Middle Eastern	~2,849	1 in 120	≈ 1 in 2,800

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 1 coding exons well covered in gnomAD exomes and genomes.? see exons ↓