BICC1

Chr 10

BicC family RNA binding protein 1

Also known as: BICC

NCBI Gene: 80114ENSG00000122870UniProt: Q9H694

This gene encodes an RNA-binding protein that is active in regulating gene expression by modulating protein translation during embryonic development. Mouse studies identified the corresponding protein to be under strict control during cell differentiation and to be a maternally provided gene product. [provided by RefSeq, Apr 2009]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtRenal dysplasia, cystic

Clinical highlights

Gene-disease validity (ClinGen)
renal dysplasia, cystic, susceptibility to · ADModerateconsider for supplementary testing
Interpreting a novel variant
This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.
0
Active trials
31
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.34
LOEUF· LoF intol.
LOF
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
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.34LOEUF
pLI 0.837
Z-score 5.24
OE 0.20 (0.12–0.34)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
1.25Z-score
OE missense 0.85 (0.78–0.92)
449 obs / 529.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.20 (0.12–0.34)
0≤0.351.4
Missense OE?0.85 (0.78–0.92)
0≤0.61.4
Synonymous OE?1.04
0≤1.21.6
LoF obs/exp: 10 / 50.0Missense obs/exp: 449 / 529.7Syn Z: -0.44

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

BICC1 · 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