APCDD1

Chr 18AD

APC down-regulated 1

Also known as: B7323, DRAPC1, FP7019, HHS, HTS, HYPT1

This locus encodes an inhibitor of the Wnt signaling pathway. Mutations at this locus have been associated with hereditary hypotrichosis simplex. Increased expression of this gene may also be associated with colorectal carcinogenesis.[provided by RefSeq, Sep 2010]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Hypotrichosis 1MIM #605389
AD
0
Active trials
17
Pubs (1 yr)
P/LP submissions
P/LP missense
0.68
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.68LOEUF
pLI 0.007
Z-score 2.59
OE 0.36 (0.200.68)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.48Z-score
OE missense 0.92 (0.841.02)
291 obs / 315.1 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.36 (0.200.68)
00.351.4
Missense OE?0.92 (0.841.02)
00.61.4
Synonymous OE?1.11
01.21.6
LoF obs/exp: 7 / 19.3Missense obs/exp: 291 / 315.1Syn Z: -0.95

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

APCDD1 · 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.

Search ClinicalTrials.gov →