Gene
CRNKL1
crooked neck pre-mRNA splicing factor 1
- HGNC 15762↗(opens in a new tab)
- Ensembl gene ENSG00000101343↗(opens in a new tab)
- NCBI Gene 51340↗(opens in a new tab)
Summary
- Cytogenetic location
- 20p11.23
- Coordinates
- Chromosome 20: 20,034,368–20,052,466 (GRCh38)
- Exons
- 14 exons across 18.1 kb
- Protein
- 687 amino acids
- Also known as
- CRN, CLF, SYF3, Clf1
- MANE Select transcript
- ENST00000536226.2NM_001278628.2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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No Genome Test report reads CRNKL1 yet. The test sequences your whole genome, so your data includes it all the same.
How CRNKL1 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4 kb of the gene's 18.1 kb; 2,064 of those bases code for the protein.
How a genome test reads CRNKL1
1
position in CRNKL1 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 18.1 kb of CRNKL1, introns included, not only the 4 kb of exons.
Traits linked to CRNKL1
The Human Phenotype Ontology lists these as features of the rare conditions CRNKL1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Agyria
- Cerebellar vermis hypoplasia
- Degeneration of cerebellum
- Encephalopathy
- Epilepsy
- Fewer and broader ridges in brain
- Fewer or absent grooves in brain
- Grand mal seizures
Show 14 more traits
- Hippocampal malrotation
- Hypoplasia of the pons
- Increased reflexes
- Intellectual disability
- Intellectual disability, severe
- Myoclonic seizure
- Partial agenesis of the corpus callosum
- Profound global developmental delay
- Seizure affecting one half of brain
- Severe global developmental delay
- Simplified gyral pattern
- Small brainstem
- Small cerebellum
- Agenesis of corpus callosum
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). CRNKL1 gene: crooked neck pre-mRNA splicing factor 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/crnkl1
Dante Labs. CRNKL1 gene: crooked neck pre-mRNA splicing factor 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/crnkl1
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