C15ORF61

Chr 15

chromosome 15 open reading frame 61

NCBI Gene: 145853 ENSG00000189227 UniProt: A6NNL5

Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

Research

Located in mitochondrion. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.32

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.32LOEUF

pLI 0.092

Z-score 1.15

OE 0.43 (0.17–1.32)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.13Z-score

OE missense 1.04 (0.87–1.26)

79 obs / 75.7 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.43 (0.17–1.32)

0≤0.351.4

Missense OE?1.04 (0.87–1.26)

0≤0.61.4

Synonymous OE?1.06

0≤1.21.6

LoF obs/exp: 2 / 4.7Missense obs/exp: 79 / 75.7Syn Z: -0.28

Background carrier burden — how many people carry a rare variant somewhere in C15ORF61?

gnomAD v4 · ~698k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 91

279 rare PASS variants

Rare truncating (LoF)

1 in 2,000

59 rare PASS variants

Rare synonymous (reference)

1 in 440

106 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for C15ORF61. 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 150	1 in 3,500
South Asian	~40k	1 in 140	1 in 1,600
Remaining (unassigned)	~29k	1 in 110	1 in 1,300
European (Finnish)	~25k	1 in 390	≈ 1 in 23,000
African / African American	~21k	1 in 150	1 in 1,600
East Asian	~18k	1 in 240	1 in 990
Admixed American	~18k	1 in 190	1 in 1,600
Ashkenazi Jewish	~13k	1 in 1,200	none seen
Middle Eastern	~2,850	1 in 150	≈ 1 in 1,400

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): 1 of 2 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 2.? see exons ↓