MINDY1

Chr 1

MINDY lysine 48 deubiquitinase 1

Also known as: FAM63A, MINDY-1

NCBI Gene: 55793 ENSG00000143409 UniProt: Q8N5J2 OMIM: 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 nucleoplasm. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

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

Background carrier burden — how many people carry a rare variant somewhere in MINDY1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

591 rare PASS variants

Rare truncating (LoF)

1 in 400

122 rare PASS variants

Rare synonymous (reference)

1 in 150

278 rare PASS variants

Rare missense and truncating variants are carried at similar rates in MINDY1; this gene does not show strong loss-of-function constraint by this measure. 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 130	1 in 350
South Asian	~43k	1 in 82	1 in 930
Remaining (unassigned)	~30k	1 in 84	1 in 700
European (Finnish)	~27k	1 in 230	1 in 890
Admixed American	~22k	1 in 110	1 in 230
African / African American	~21k	1 in 97	1 in 620
East Asian	~20k	1 in 140	1 in 1,200
Ashkenazi Jewish	~13k	1 in 240	≈ 1 in 4,300
Middle Eastern	~2,884	1 in 100	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 9 coding exons well covered in gnomAD exomes and genomes.? see exons ↓