SKIC8

Chr 15

SKI8 subunit of superkiller complex

Also known as: REC14, SKI8, WDR61

NCBI Gene: 80349 ENSG00000140395 UniProt: Q9GZS3

WDR61 is a subunit of the human PAF and SKI complexes, which function in transcriptional regulation and are involved in events downstream of RNA synthesis, such as RNA surveillance (Zhu et al., 2005 [PubMed 16024656]).[supplied by OMIM, Mar 2008]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.72

LOEUF

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?

0.72LOEUF

pLI 0.005

Z-score 2.43

OE 0.39 (0.22–0.72)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.95Z-score

OE missense 0.57 (0.49–0.68)

96 obs / 167.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.39 (0.22–0.72)

0≤0.351.4

Missense OE?0.57 (0.49–0.68)

0≤0.61.4

Synonymous OE?0.88

0≤1.21.6

LoF obs/exp: 7 / 18.2Missense obs/exp: 96 / 167.0Syn Z: 0.74

Background carrier burden — how many people carry a rare variant somewhere in SKIC8?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 290

284 rare PASS variants

Rare truncating (LoF)

1 in 3,100

54 rare PASS variants

Rare synonymous (reference)

1 in 320

134 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SKIC8. 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 2,600
South Asian	~43k	1 in 290	1 in 2,000
Remaining (unassigned)	~30k	1 in 290	1 in 3,300
European (Finnish)	~27k	1 in 3,800	≈ 1 in 13,000
Admixed American	~22k	1 in 300	≈ 1 in 6,100
African / African American	~21k	1 in 340	≈ 1 in 10,000
East Asian	~20k	1 in 210	≈ 1 in 6,600
Ashkenazi Jewish	~13k	≈ 1 in 6,500	≈ 1 in 6,500
Middle Eastern	~2,884	1 in 360	≈ 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 10 coding exons well covered in gnomAD exomes and genomes.? see exons ↓