Skip to content
GenoLensGenoLens

CRNKL1

Chr 20p11.23

crooked neck pre-mRNA splicing factor 1

Aliases:
CRN, CLF, SYF3, Clf1
MANE:
ENST00000536226.2
OMIM: 610952 ↗NCBI: 51340 ↗Ensembl ↗

Annotations refreshed 1 month ago.

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

  • Ataxia and cerebellar anomalies - narrow panel

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Early onset or syndromic epilepsy

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Intellectual disability

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

  • Severe microcephaly

    MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Disease associations (Open Targets)

  • complex neurodevelopmental disorder

    0.53

  • dengue disease

    0.37

  • Abnormality of the skeletal system

    0.33

  • glomerulonephritis

    0.31

  • type 2 diabetes mellitus

    0.21

  • acute myeloid leukemia

    0.19

  • urinary bladder carcinoma

    0.19

  • esophageal adenocarcinoma

    0.19

  • bladder transitional cell carcinoma

    0.19

  • hepatocellular carcinoma

    0.19

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Crooked neck-like protein 1

Involved in pre-mRNA splicing process (PubMed:11991638, PubMed:12084575, PubMed:28076346, PubMed:28502770). As a component of the minor spliceosome, involved in the splicing of U12-type introns in pre-mRNAs (Probable)

Diseases associated with CRNKL1

Curated MONDO disease pages that list CRNKL1 among their top associated genes.

Data sources: HGNC (CC BY 4.0), AlphaFold (CC BY 4.0, Jumper et al. Nature 2021), Genomics England PanelApp (CC BY 4.0), ClinGen, Open Targets (CC0), UniProt.

Not for sole clinical decision-making. Always verify against primary sources.