ARL6IP6

Chr 2

ARF like GTPase 6 interacting protein 6

Also known as: AIP-6, AIP6, PFAAP1

NCBI Gene: 151188 ENSG00000177917 UniProt: Q8N6S5

Predicted to be located in nuclear inner membrane. [provided by Alliance of Genome Resources, Jul 2025]

Research

Predicted to be located in nuclear inner membrane. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.05

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?

1.05LOEUF

pLI 0.018

Z-score 1.48

OE 0.46 (0.23–1.05)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.77Z-score

OE missense 1.44 (1.28–1.63)

183 obs / 126.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.46 (0.23–1.05)

0≤0.351.4

Missense OE?1.44 (1.28–1.63)

0≤0.61.4

Synonymous OE?1.39

0≤1.21.6

LoF obs/exp: 4 / 8.7Missense obs/exp: 183 / 126.8Syn Z: -2.24

Background carrier burden — how many people carry a rare variant somewhere in ARL6IP6?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 210

415 rare PASS variants

Rare truncating (LoF)

1 in 2,000

66 rare PASS variants

Rare synonymous (reference)

1 in 570

172 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ARL6IP6. 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 290	1 in 2,700
South Asian	~43k	1 in 150	1 in 890
Remaining (unassigned)	~30k	1 in 170	1 in 1,700
European (Finnish)	~27k	1 in 320	1 in 1,600
Admixed American	~22k	1 in 120	1 in 1,400
African / African American	~21k	1 in 150	1 in 1,700
East Asian	~20k	1 in 270	1 in 2,200
Ashkenazi Jewish	~13k	1 in 490	none seen
Middle Eastern	~2,884	1 in 240	≈ 1 in 960

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