DRC7

Chr 16

dynein regulatory complex subunit 7

Also known as: C16orf50, CCDC135, CFAP50, FAP50

NCBI Gene: 84229 ENSG00000159625 UniProt: Q8IY82 OMIM: 618769

This protein is a component of the nexin-dynein regulatory complex that regulates ciliary and flagellar motility and is essential for sperm flagellum formation and male fertility. The gene shows very low constraint against loss-of-function variants (pLI near 0), consistent with its primary role in male reproductive function. Mutations in DRC7 have not been definitively associated with human disease, though defects in related ciliary motility genes can cause primary ciliary dyskinesia.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to be involved in sperm axoneme assembly. Located in cytoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.86

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.86LOEUF

pLI 0.000

Z-score 2.35

OE 0.64 (0.48–0.86)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.73Z-score

OE missense 0.91 (0.85–0.98)

504 obs / 552.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.64 (0.48–0.86)

0≤0.351.4

Missense OE?0.91 (0.85–0.98)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 31 / 48.7Missense obs/exp: 504 / 552.6Syn Z: 1.46

Background carrier burden — how many people carry a rare variant somewhere in DRC7?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 36

1,174 rare PASS variants

Rare truncating (LoF)

1 in 780

183 rare PASS variants

Rare synonymous (reference)

1 in 60

452 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for DRC7. 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)	~556k	1 in 52	1 in 500
South Asian	~43k	1 in 35	1 in 480
Remaining (unassigned)	~30k	1 in 33	1 in 940
European (Finnish)	~27k	1 in 93	1 in 1,500
Admixed American	~22k	1 in 39	1 in 1,200
African / African American	~21k	1 in 32	1 in 740
East Asian	~20k	1 in 29	1 in 360
Ashkenazi Jewish	~13k	1 in 200	1 in 330
Middle Eastern	~2,884	1 in 34	≈ 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): All 17 coding exons well covered in gnomAD exomes and genomes.? see exons ↓