PAK6

Chr 15

p21 (RAC1) activated kinase 6

NCBI Gene: 56924 ENSG00000137843 UniProt: Q9NQU5 OMIM: 608110

This gene encodes a member of a family of p21-stimulated serine/threonine protein kinases, which contain an amino-terminal Cdc42/Rac interactive binding (CRIB) domain and a carboxyl-terminal kinase domain. These kinases function in a number of cellular processes, including cytoskeleton rearrangement, apoptosis, and the mitogen-activated protein (MAP) kinase signaling pathway. The protein encoded by this gene interacts with androgen receptor (AR) and translocates to the nucleus, where it is involved in transcriptional regulation. Changes in expression of this gene have been linked to prostate cancer. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

Multiple*

Mechanism· predicted

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in PAK6?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 46

898 rare PASS variants

Rare truncating (LoF)

1 in 2,200

91 rare PASS variants

Rare synonymous (reference)

1 in 94

429 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for PAK6. 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 56	1 in 2,200
South Asian	~43k	1 in 39	1 in 2,200
Remaining (unassigned)	~30k	1 in 59	1 in 3,300
European (Finnish)	~27k	1 in 110	1 in 2,700
Admixed American	~22k	1 in 47	≈ 1 in 11,000
African / African American	~21k	1 in 52	1 in 3,000
East Asian	~20k	1 in 54	1 in 1,500
Ashkenazi Jewish	~13k	1 in 140	1 in 2,500
Middle Eastern	~2,884	1 in 53	≈ 1 in 1,400

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