SKOR1

Chr 15

SKI family transcriptional corepressor 1

Also known as: CORL1, FUSSEL15, LBXCOR1

NCBI Gene: 390598 ENSG00000188779 UniProt: P84550 OMIM: 611273

Enables SMAD binding activity and sequence-specific double-stranded DNA binding activity. Involved in negative regulation of BMP signaling pathway. Located in dendrite and neuronal cell body. [provided by Alliance of Genome Resources, Jul 2025]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.74

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.74LOEUF

pLI 0.000

Z-score 2.87

OE 0.51 (0.35–0.74)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

2.18Z-score

OE missense 0.72 (0.66–0.79)

344 obs / 478.4 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.51 (0.35–0.74)

0≤0.351.4

Missense OE?0.72 (0.66–0.79)

0≤0.61.4

Synonymous OE?0.99

0≤1.21.6

LoF obs/exp: 20 / 39.5Missense obs/exp: 344 / 478.4Syn Z: 0.16

Background carrier burden — how many people carry a rare variant somewhere in SKOR1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 37

1,731 rare PASS variants

Rare truncating (LoF)

1 in 430

166 rare PASS variants

Rare synonymous (reference)

1 in 60

820 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for SKOR1. 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 47	1 in 1,600
South Asian	~43k	1 in 29	1 in 420
Remaining (unassigned)	~30k	1 in 32	1 in 430
European (Finnish)	~27k	1 in 110	1 in 830
Admixed American	~22k	1 in 33	1 in 280
African / African American	~21k	1 in 35	1 in 420
East Asian	~20k	1 in 46	1 in 780
Ashkenazi Jewish	~13k	1 in 230	1 in 1,000
Middle Eastern	~2,884	1 in 42	≈ 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): 8 of 9 coding exons well covered in gnomAD exomes; exon 1 poorly covered. Genomes: all 9.? see exons ↓