CRNKL1

Chr 20AD

crooked neck pre-mRNA splicing factor 1

Also known as: CLF, CRN, Clf1, HCRN, MGCH, MSTP021, SYF3

NCBI Gene: 51340ENSG00000101343UniProt: Q9BZJ0OMIM: 610952

The crooked neck (crn) gene of Drosophila is essential for embryogenesis and is thought to be involved in cell cycle progression and pre-mRNA splicing. A protein encoded by this human locus has been found to localize to pre-mRNA splicing complexes in the nucleus and is necessary for pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jul 2013]

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasiaMIM #621436
AD
0
Active trials
7
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.55
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?
0.55LOEUF
pLI 0.000
Z-score 4.16
OE 0.37 (0.26–0.55)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
0.88Z-score
OE missense 0.89 (0.82–0.96)
420 obs / 473.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.37 (0.26–0.55)
0≤0.351.4
Missense OE?0.89 (0.82–0.96)
0≤0.61.4
Synonymous OE?1.08
0≤1.21.6
LoF obs/exp: 19 / 51.1Missense obs/exp: 420 / 473.9Syn Z: -0.80

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

CRNKL1 · 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