MINAR1

Chr 15

membrane integral NOTCH2 associated receptor 1

Also known as: KIAA1024, UBTOR

NCBI Gene: 23251 ENSG00000169330 UniProt: Q9UPX6

Involved in several processes, including negative regulation of TOR signaling; negative regulation of angiogenesis; and negative regulation of protein ubiquitination. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.69

LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.69LOEUF

pLI 0.000

Z-score 2.86

OE 0.44 (0.28–0.69)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

-0.44Z-score

OE missense 1.05 (0.98–1.13)

551 obs / 522.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.44 (0.28–0.69)

0≤0.351.4

Missense OE?1.05 (0.98–1.13)

0≤0.61.4

Synonymous OE?1.09

0≤1.21.6

LoF obs/exp: 13 / 29.9Missense obs/exp: 551 / 522.8Syn Z: -1.09

Background carrier burden — how many people carry a rare variant somewhere in MINAR1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 46

1,224 rare PASS variants

Rare truncating (LoF)

1 in 1,200

129 rare PASS variants

Rare synonymous (reference)

1 in 66

510 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MINAR1. 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 62	1 in 1,200
South Asian	~43k	1 in 27	1 in 1,100
Remaining (unassigned)	~30k	1 in 39	1 in 580
European (Finnish)	~27k	1 in 150	1 in 2,700
Admixed American	~22k	1 in 32	1 in 1,100
African / African American	~21k	1 in 30	1 in 1,900
East Asian	~20k	1 in 44	1 in 960
Ashkenazi Jewish	~13k	1 in 88	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 34	≈ 1 in 2,900

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 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓