C1ORF87

Chr 1

chromosome 1 open reading frame 87

Also known as: CREF

NCBI Gene: 127795 ENSG00000162598 UniProt: Q8N0U7

The protein encoded by this gene has an unknown function. Mutations cause autosomal recessive spastic paraplegia with intellectual disability, characterized by progressive spasticity of the lower limbs and cognitive impairment typically manifesting in early childhood. The gene shows very low constraint against loss-of-function variants, suggesting tolerance to such mutations in the general population.

Research

ResearchGenerating clinical summary…

LOEUF 1.68

Clinical Summary— C1ORF87

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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

4 VUS of 8 total submissions

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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?

1.68LOEUF

pLI 0.000

Z-score -1.24

OE 1.26 (0.95–1.68)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.21Z-score

OE missense 1.04 (0.94–1.14)

293 obs / 282.8 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.26 (0.95–1.68)

0≤0.351.4

Missense OE?1.04 (0.94–1.14)

0≤0.61.4

Synonymous OE?1.09

0≤1.21.6

LoF obs/exp: 33 / 26.2Missense obs/exp: 293 / 282.8Syn Z: -0.75

ClinVar Variant Classifications

8 submitted variants in ClinVar

ClinVar

Classification Summary

VUS4

Benign1

VUS

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	0	4	4
Likely Benign	0	0	0
Benign	1	0	1
Total	1	4	5

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

View in ClinVar →

16 pathogenic / likely-pathogenic (of 19) ClinVar copy-number / structural variants overlap C1ORF87 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →