Gene
SPOUT1
SPOUT domain containing methyltransferase 1
- HGNC 26933(opens in a new tab)
- Ensembl gene ENSG00000198917(opens in a new tab)
- NCBI Gene 51490(opens in a new tab)
Summary
- Cytogenetic location
- 9q34.11
- Coordinates
- Chromosome 9: 128,819,651–128,829,794 (GRCh38)
- Exons
- 12 exons across 10.1 kb
- Protein
- 376 amino acids
- Also known as
- HSPC109, CENP-32
- Previous symbols
- C9orf114
- MANE Select transcript
- ENST00000361256.10NM_016390.4
- 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 SPOUT1 yet. The test sequences your whole genome, so your data includes it all the same.
How SPOUT1 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 4.3 kb of the gene's 10.1 kb; 1,131 of those bases code for the protein.
How a genome test reads SPOUT1
8
positions in SPOUT1 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 10.1 kb of SPOUT1, introns included, not only the 4.3 kb of exons.
Traits linked to SPOUT1
The Human Phenotype Ontology lists these as features of the rare conditions SPOUT1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Corpus callosum atrophy
- Decrease in size of the outer layer of the brain due to loss of brain cells
- Degeneration of cerebrum
- Delayed CNS myelination
- Dysgyria
- Encephalomalacia
- Encephalopathy
- Extra-axial cerebrospinal fluid accumulation
Show 18 more traits
- Generalized brain degeneration
- Global developmental delay
- Infantile spasms
- Intellectual disability
- Irritability
- Periventricular leukomalacia
- Reduced cerebral white matter volume
- Teeth grinding
- Thin corpus callosum
- Too much cerebrospinal fluid in the brain
- Ventriculomegaly
- Hypsarrhythmia
- Febrile seizure (within the age range of 3 months to 6 years)
- Generalized-onset seizure
- Multifocal seizures
- Interictal EEG abnormality
- Seizure affecting one half of brain
- Tonic seizure
Abnormality of the eye
- Clouding of the lens of the eye
- Abnormal visual fixation
- Abnormally small eyeball
- Alternating cross eyes
- Decreased clarity of vision
- Farsightedness
- Involuntary, rapid, rhythmic eye movements
- Leukocoria
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.). SPOUT1 gene: SPOUT domain containing methyltransferase 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/spout1
Dante Labs. SPOUT1 gene: SPOUT domain containing methyltransferase 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/spout1
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