GCSAML

Chr 1

germinal center associated signaling and motility like

Also known as: C1orf150

NCBI Gene: 148823ENSG00000169224UniProt: Q5JQS6

This gene encodes a protein thought to be a signaling molecule associated with germinal centers, the sites of proliferation and differentiation of mature B lymphocytes. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Aug 2013]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.15
LOEUF
Multiple*
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?
1.15LOEUF
pLI 0.125
Z-score 1.37
OE 0.37 (0.15–1.15)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.31Z-score
OE missense 1.11 (0.92–1.35)
73 obs / 65.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.37 (0.15–1.15)
0≤0.351.4
Missense OE?1.11 (0.92–1.35)
0≤0.61.4
Synonymous OE?0.63
0≤1.21.6
LoF obs/exp: 2 / 5.4Missense obs/exp: 73 / 65.9Syn Z: 1.43

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GCSAML · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients