Gene
STIL
STIL centriolar assembly protein
- HGNC 10879↗(opens in a new tab)
- Ensembl gene ENSG00000123473↗(opens in a new tab)
- NCBI Gene 6491↗(opens in a new tab)
Summary
- Cytogenetic location
- 1p33
- Coordinates
- Chromosome 1: 47,250,139–47,314,147 (GRCh38)
- Exons
- 17 exons across 64 kb
- Protein
- 1,288 amino acids
- Also known as
- MCPH7
- Previous symbols
- SIL
- MANE Select transcript
- ENST00000371877.8NM_001048166.1
- 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 STIL yet. The test sequences your whole genome, so your data includes it all the same.
How STIL 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 5 kb of the gene's 64 kb; 3,867 of those bases code for the protein.
How a genome test reads STIL
6
positions in STIL 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 64 kb of STIL, introns included, not only the 5 kb of exons.
Traits linked to STIL
The Human Phenotype Ontology lists these as features of the rare conditions STIL can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Absent speech development
- Global developmental delay
- Intellectual disability
- Intellectual disability, severe
- Simplified gyral pattern
- Gray matter heterotopia
- Abnormal central motor function
- Abnormal corpus callosum morphology
Show 34 more traits
- Abnormal morphology of the olfactory bulb
- Abnormal shape of brainstem
- Abnormal shape of midbrain
- Abnormality of the autonomic nervous system
- Agenesis of corpus callosum
- Anxiety
- Aplasia of the falx cerebri
- Attention deficit
- Behavioral abnormality
- Communication delay
- Depression
- Epilepsy
- Fewer and broader ridges in brain
- Impulsivity
- Inability to walk
- Increased reflexes
- Irritability
- Lack of feeling, emotion, interest
- Lethargy
- Limb dystonia
- Neural tube defect
- Oromotor apraxia
- Poor speech
- Short attention span
- Sleep-wake cycle disturbance
- Specific learning disability
- Underdeveloped frontal lobe
- Ventriculomegaly
- Abnormal septum pellucidum morphology
- Enlarged brain
- Hypoplasia of the pons
- Perisylvian polymicrogyria
- Rhombencephalosynapsis
- Too much cerebrospinal fluid in the brain
Abnormality of the musculoskeletal system
- Abnormal cortical bone morphology
- Abnormal vertebral morphology
- Abnormality of the ribs
- Decreased muscle tone in infant
- Generalized decreased muscle tone
- Involuntary muscle stiffness, contraction, or spasm
- Abnormality of the skeletal system
- Flexed joint that cannot be straightened
Show 2 more traits
Abnormality of the digestive system
- Feeding difficulties
- Poor suck
- Acid reflux
- Constipation
- Poor swallowing
- Vomiting
- Abnormal shape of the digestive system
- Anteriorly placed anus
Show 1 more trait
Abnormality of the endocrine system
- Abnormal hypothalamus physiology
- Abnormality of the endocrine system
- Anterior hypopituitarism
- Central diabetes insipidus
- Diabetes insipidus
- Early onset of puberty
- Central hypothyroidism
- Decreased response to growth hormone stimulation test
Show 1 more trait
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.). STIL gene: STIL centriolar assembly protein. Retrieved 16 October 2026, from https://dantelabs.com/genes/stil
Dante Labs. STIL gene: STIL centriolar assembly protein [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/stil
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