CORO1B

Chr 11

coronin 1B

Also known as: CORONIN-2

NCBI Gene: 57175 ENSG00000172725 UniProt: Q9BR76 OMIM: 609849

Coronin 1B is an actin-binding protein that regulates cell motility and leading edge dynamics in fibroblasts, and may function in cytokinesis and signal transduction. The gene is highly constrained against loss-of-function variants (pLI near 1.0), suggesting that complete loss of protein function is likely incompatible with normal development. Mutations in CORO1B cause autosomal recessive arthrogryposis multiplex congenita.

OMIM ResearchSummary from RefSeq, UniProt

Members of the coronin family, such as CORO1B, are WD repeat-containing actin-binding proteins that regulate cell motility (Cai et al., 2005 [PubMed 16027158]).[supplied by OMIM, Mar 2008]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

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Mechanism

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in CORO1B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 58

715 rare PASS variants

Rare truncating (LoF)

1 in 660

112 rare PASS variants

Rare synonymous (reference)

1 in 92

333 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CORO1B. 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 62	1 in 520
South Asian	~43k	1 in 67	1 in 1,300
Remaining (unassigned)	~30k	1 in 55	1 in 620
European (Finnish)	~27k	1 in 230	1 in 1,100
Admixed American	~22k	1 in 90	1 in 2,400
African / African American	~21k	1 in 75	1 in 1,100
East Asian	~20k	1 in 87	1 in 1,400
Ashkenazi Jewish	~13k	1 in 340	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 63	≈ 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 10 coding exons well covered in gnomAD exomes and genomes.? see exons ↓