CIMAP1C

Chr 15

ciliary microtubule associated protein 1C

Also known as: ODF3L1

NCBI Gene: 161753 ENSG00000182950 UniProt: Q8IXM7 OMIM: 621605

Predicted to be active in cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

Predicted to be active in cytoskeleton. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.74

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.74LOEUF

pLI 0.000

Z-score -0.49

OE 1.15 (0.76–1.74)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.44Z-score

OE missense 0.91 (0.80–1.03)

158 obs / 174.4 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.15 (0.76–1.74)

0≤0.351.4

Missense OE?0.91 (0.80–1.03)

0≤0.61.4

Synonymous OE?0.95

0≤1.21.6

LoF obs/exp: 14 / 12.2Missense obs/exp: 158 / 174.4Syn Z: 0.32

Background carrier burden — how many people carry a rare variant somewhere in CIMAP1C?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 100

371 rare PASS variants

Rare truncating (LoF)

1 in 1,500

70 rare PASS variants

Rare synonymous (reference)

1 in 210

144 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for CIMAP1C. 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 190	1 in 1,800
South Asian	~43k	1 in 91	1 in 410
Remaining (unassigned)	~30k	1 in 85	1 in 2,400
European (Finnish)	~27k	1 in 580	≈ 1 in 13,000
Admixed American	~22k	1 in 91	1 in 980
African / African American	~21k	1 in 97	1 in 770
East Asian	~20k	1 in 140	1 in 660
Ashkenazi Jewish	~13k	1 in 1,300	none seen
Middle Eastern	~2,884	1 in 140	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): All 4 coding exons well covered in gnomAD exomes and genomes.? see exons ↓