ANKRD1

Chr 10

ankyrin repeat domain 1

Also known as: ALRP, C-193, CARP, CVARP, MCARP, bA320F15.2

The protein encoded by this gene is localized to the nucleus of endothelial cells and is induced by IL-1 and TNF-alpha stimulation. Studies in rat cardiomyocytes suggest that this gene functions as a transcription factor. Interactions between this protein and the sarcomeric proteins myopalladin and titin suggest that it may also be involved in the myofibrillar stretch-sensor system. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Clinical highlights

Gene-disease validity (ClinGen)
hypertrophic cardiomyopathy · ADDisputedevidence questions this relationship3 gene-disease associations curated in total
0
Active trials
46
Pubs (1 yr)
P/LP submissions
P/LP missense
1.34
LOEUF
GOF
Mechanism· predicted
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GeneReview available — ANKRD1
Authoritative clinical overview · Recommended first read
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.34LOEUF
pLI 0.000
Z-score 0.47
OE 0.88 (0.591.34)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.19Z-score
OE missense 0.96 (0.841.09)
166 obs / 173.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.88 (0.591.34)
00.351.4
Missense OE?0.96 (0.841.09)
00.61.4
Synonymous OE?0.95
01.21.6
LoF obs/exp: 16 / 18.2Missense obs/exp: 166 / 173.2Syn Z: 0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ANKRD1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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