MINDY1

Chr 1

MINDY lysine 48 deubiquitinase 1

Also known as: FAM63A, MINDY-1

NCBI Gene: 55793ENSG00000143409UniProt: Q8N5J2OMIM: 618407

Enables K48-linked deubiquitinase activity; K48-linked polyubiquitin modification-dependent protein binding activity; and cysteine-type carboxypeptidase activity. Predicted to be involved in proteolysis. Located in nuclear body. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating clinical summary…
0
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.28
LOEUF
GOF
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.28LOEUF
pLI 0.000
Z-score 0.42
OE 0.91 (0.67–1.28)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.21Z-score
OE missense 0.80 (0.72–0.89)
233 obs / 291.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.91 (0.67–1.28)
0≤0.351.4
Missense OE?0.80 (0.72–0.89)
0≤0.61.4
Synonymous OE?1.15
0≤1.21.6
LoF obs/exp: 25 / 27.4Missense obs/exp: 233 / 291.2Syn Z: -1.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MINDY1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients