HAUS2

Chr 15

HAUS augmin like complex subunit 2

Also known as: C15orf25, CEP27, HsT17025

NCBI Gene: 55142 ENSG00000137814 UniProt: Q9NVX0 OMIM: 613429

The protein encoded by this gene is a subunit of the augmin complex. The augmin complex plays a role in microtubule attachment to the kinetochore and central spindle formation. [provided by RefSeq, Apr 2016]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.51

LOEUF

Multiple*

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.51LOEUF

pLI 0.000

Z-score 0.37

OE 0.87 (0.53–1.51)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.14Z-score

OE missense 0.96 (0.83–1.13)

115 obs / 119.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.87 (0.53–1.51)

0≤0.351.4

Missense OE?0.96 (0.83–1.13)

0≤0.61.4

Synonymous OE?1.18

0≤1.21.6

LoF obs/exp: 9 / 10.3Missense obs/exp: 115 / 119.2Syn Z: -0.91

Background carrier burden — how many people carry a rare variant somewhere in HAUS2?

gnomAD v4 · ~729k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 160

360 rare PASS variants

Rare truncating (LoF)

1 in 1,300

80 rare PASS variants

Rare synonymous (reference)

1 in 290

126 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for HAUS2. 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)	~554k	1 in 430	1 in 4,900
South Asian	~43k	1 in 160	1 in 380
Remaining (unassigned)	~30k	1 in 130	1 in 2,700
European (Finnish)	~27k	1 in 2,400	1 in 3,900
Admixed American	~22k	1 in 110	1 in 1,500
African / African American	~21k	1 in 130	1 in 1,400
East Asian	~20k	1 in 91	1 in 2,600
Ashkenazi Jewish	~13k	1 in 2,000	1 in 1,200
Middle Eastern	~2,882	1 in 160	≈ 1 in 2,000

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): 1 of 6 coding exons well covered in gnomAD exomes; exon 2 poorly covered; exons 3, 4, 5, 6 marginal. Genomes: all 6.? see exons ↓