Gene
CEP85L
centrosomal protein 85L
- HGNC 21638↗(opens in a new tab)
- Ensembl gene ENSG00000111860↗(opens in a new tab)
- NCBI Gene 387119↗(opens in a new tab)
Summary
- Cytogenetic location
- 6q22.31
- Coordinates
- Chromosome 6: 118,460,772–118,651,591 (GRCh38)
- Exons
- 13 exons across 190.8 kb
- Protein
- 805 amino acids
- Also known as
- NY-BR-15, bA57K17.2
- Previous symbols
- C6orf204
- MANE Select transcript
- ENST00000368491.8NM_001042475.3
- 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 CEP85L yet. The test sequences your whole genome, so your data includes it all the same.
How CEP85L 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 7.4 kb of the gene's 190.8 kb; 2,418 of those bases code for the protein.
How a genome test reads CEP85L
9
positions in CEP85L 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 190.8 kb of CEP85L, introns included, not only the 7.4 kb of exons.
Traits linked to CEP85L
The Human Phenotype Ontology lists these as features of the rare conditions CEP85L can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- EEG abnormality
- Abnormal hippocampus morphology
- Abnormality of the anterior commissure
- Absent/small cerebellum
- Fewer and broader ridges in brain
- Intellectual disability, severe
- Neurodevelopmental delay
- Focal impaired awareness seizure
Show 24 more traits
- Global developmental delay
- Intellectual disability
- Involuntary movements
- Posterior predominant subcortical band heterotopia
- Sudden loss of muscle tone
- Thin corpus callosum
- Aggressive behavior
- Agyria
- Atypical absence seizure
- Autism spectrum disorder
- Bilateral tonic-clonic seizure with focal onset
- Bipolar disorder
- Brief seizures with staring spells
- Depression
- Febrile seizure (within the age range of 3 months to 6 years)
- Generalized-onset seizure
- Grand mal seizures
- Hallucinations of sound
- Infantile spasms
- Myoclonic seizure
- Repetitive movements
- Suicidal ideation
- Tonic seizure
- Visual agnosia
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.). CEP85L gene: centrosomal protein 85L. Retrieved 17 October 2026, from https://dantelabs.com/genes/cep85l
Dante Labs. CEP85L gene: centrosomal protein 85L [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/cep85l
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