CDCA5

Chr 11

cell division cycle associated 5

Also known as: SORORIN

NCBI Gene: 113130 ENSG00000146670 UniProt: Q96FF9 OMIM: 609374

The protein regulates sister chromatid cohesion during mitosis by stabilizing the cohesin complex on chromatin and is required for efficient DNA double-strand break repair. Mutations cause autosomal recessive primary microcephaly with early-onset seizures and developmental delay. The gene shows low constraint to loss-of-function variants, consistent with its recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable chromatin binding activity. Involved in double-strand break repair and mitotic sister chromatid cohesion. Located in nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.14

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.14LOEUF

pLI 0.001

Z-score 1.25

OE 0.58 (0.32–1.14)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.10Z-score

OE missense 0.74 (0.63–0.87)

105 obs / 141.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.58 (0.32–1.14)

0≤0.351.4

Missense OE?0.74 (0.63–0.87)

0≤0.61.4

Synonymous OE?0.81

0≤1.21.6

LoF obs/exp: 6 / 10.4Missense obs/exp: 105 / 141.8Syn Z: 1.16

Background carrier burden — how many people carry a rare variant somewhere in CDCA5?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 69

659 rare PASS variants

Rare truncating (LoF)

1 in 650

113 rare PASS variants

Rare synonymous (reference)

1 in 130

272 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CDCA5. 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 120	1 in 630
South Asian	~43k	1 in 110	1 in 1,100
Remaining (unassigned)	~30k	1 in 91	1 in 480
European (Finnish)	~27k	1 in 580	1 in 4,400
Admixed American	~22k	1 in 68	1 in 880
African / African American	~21k	1 in 100	1 in 1,900
East Asian	~20k	1 in 83	1 in 600
Ashkenazi Jewish	~13k	1 in 590	1 in 1,100
Middle Eastern	~2,884	1 in 79	none seen

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): 6 of 6 coding exons well covered in gnomAD exomes. Genomes: 5 of 6 (exon 1 below).? see exons ↓