OSGIN1

Chr 16

oxidative stress induced growth inhibitor 1

Also known as: BDGI, OKL38

NCBI Gene: 29948 ENSG00000140961 UniProt: Q9UJX0 OMIM: 607975

The protein encoded by this gene is a monooxygenase that regulates cell division by promoting RHOA activity during cytokinesis and stabilizing intercellular bridges before cell separation, while also functioning as an oxidative stress response protein that regulates apoptosis. Biallelic mutations cause autosomal recessive intellectual disability with seizures, hypotonia, and developmental delay. The gene shows tolerance to loss-of-function variants (high LOEUF score), consistent with the recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, UniProt

This gene encodes an oxidative stress response protein that regulates cell death. Expression of the gene is regulated by p53 and is induced by DNA damage. The protein regulates apoptosis by inducing cytochrome c release from mitochondria. It also appears to be a key regulator of both inflammatory and anti-inflammatory molecules. The loss of this protein correlates with uncontrolled cell growth and tumor formation. Naturally occurring read-through transcription exists between this gene and the neighboring upstream malonyl-CoA decarboxylase (MLYCD) gene, but the read-through transcripts are unlikely to produce a protein product. [provided by RefSeq, Aug 2011]

OMIM ResearchGenerating clinical summary…

LOEUF 1.44

Clinical Summary— OSGIN1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

1 unique Pathogenic / Likely Pathogenic· 80 VUS of 92 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.44LOEUF

pLI 0.000

Z-score 0.14

OE 0.96 (0.66–1.44)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-1.28Z-score

OE missense 1.20 (1.11–1.31)

378 obs / 314.0 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.96 (0.66–1.44)

0≤0.351.4

Missense OE?1.20 (1.11–1.31)

0≤0.61.4

Synonymous OE?1.11

0≤1.21.6

LoF obs/exp: 17 / 17.6Missense obs/exp: 378 / 314.0Syn Z: -1.11

ClinVar Variant Classifications

92 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

VUS80

Likely Benign4

Benign2

Pathogenic

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Non-coding	Synonymous	Total
Pathogenic	0	1	0	1
Likely Pathogenic	0	0	0	0
VUS	80	0	0	80
Likely Benign	4	0	0	4
Benign	0	0	2	2
Total	84	1	2	87

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

43 pathogenic / likely-pathogenic (of 77) ClinVar copy-number / structural variants overlap OSGIN1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →