CHORDC1

Chr 11

cysteine and histidine rich domain containing 1

Also known as: CHP1

NCBI Gene: 26973 ENSG00000110172 UniProt: Q9UHD1 OMIM: 604353

The CHORDC1 protein functions as a co-chaperone for HSP90 and regulates centrosome duplication by inhibiting ROCK2 kinase activity, while also ensuring proper localization of EGFR to the plasma membrane. Mutations cause autosomal recessive scoliosis with intellectual disability, typically presenting in childhood with progressive spinal curvature and developmental delays. The gene is highly constrained against loss-of-function variants (pLI = 0.90, LOEUF = 0.38), indicating intolerance to haploinsufficiency in the general population.

OMIM ResearchSummary from RefSeq, UniProt

Enables Hsp90 protein binding activity. Predicted to be involved in several processes, including centrosome duplication; obsolete negative regulation of Rho-dependent protein serine/threonine kinase activity; and regulation of cellular response to heat. [provided by Alliance of Genome Resources, Jun 2026]

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 CHORDC1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 220

342 rare PASS variants

Rare truncating (LoF)

1 in 3,200

61 rare PASS variants

Rare synonymous (reference)

1 in 410

144 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CHORDC1. 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 270	1 in 2,500
South Asian	~43k	1 in 220	1 in 2,400
Remaining (unassigned)	~30k	1 in 190	1 in 4,900
European (Finnish)	~27k	1 in 550	≈ 1 in 8,900
Admixed American	~22k	1 in 260	1 in 4,100
African / African American	~21k	1 in 250	1 in 2,400
East Asian	~20k	1 in 140	1 in 3,900
Ashkenazi Jewish	~13k	1 in 1,400	1 in 1,100
Middle Eastern	~2,883	1 in 440	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): 5 of 11 coding exons well covered in gnomAD exomes; exons 2, 3, 5, 6, 7, 8 marginal. Genomes: all 11.? see exons ↓