Gene
TRPS1
transcriptional repressor GATA binding 1
- HGNC 12340↗(opens in a new tab)
- Ensembl gene ENSG00000104447↗(opens in a new tab)
- NCBI Gene 7227↗(opens in a new tab)
Summary
- Cytogenetic location
- 8q23.3
- Coordinates
- Chromosome 8: 115,408,496–115,668,975 (GRCh38)
- Exons
- 7 exons across 260.5 kb
- Protein
- 1,294 amino acids
- Also known as
- LGCR, GC79
- MANE Select transcript
- ENST00000395715.8NM_014112.5
- 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 TRPS1 yet. The test sequences your whole genome, so your data includes it all the same.
How TRPS1 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 10 kb of the gene's 260.5 kb; 3,885 of those bases code for the protein.
How a genome test reads TRPS1
126
positions in TRPS1 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 260.5 kb of TRPS1, introns included, not only the 10 kb of exons.
Traits linked to TRPS1
The Human Phenotype Ontology lists these as features of the rare conditions TRPS1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Bulbous nose
- Limited hair on end of eyebrow
- Long philtrum
- Smooth philtrum
- Sparse scalp hair
- Thin red part of the upper lip
- Deep philtrum
- Frontal bossing
Show 24 more traits
- Little lower jaw
- Long upper lip
- Sparse eyebrow
- Sparse eyelashes
- Triangular face
- Abnormal dentition
- Aplasia/Hypoplasia of the mandible
- Extra teeth
- High palate
- Thick eyebrow
- Abnormality of the palate
- Abnormally small head
- Thick nasal alae
- Wide nasal bridge
- Bad bite
- Chin with horizontal crease
- Decreased size of tooth
- Delayed eruption of teeth
- Dental cavities
- Dental crowding
- Narrow palate
- Pear-shaped nose
- Thin eyebrow
- Underdeveloped tissue around nostril
Abnormality of limbs
- Short fingers or toes
- Cone-shaped end part of finger bones
- Curvature of little finger
- Short long bone of foot
- Short outermost finger bone
- Shortened long bone of hand
- Shortening of all finger bones
- Avascular necrosis of the capital femoral epiphysis
Show 16 more traits
- Curvature of digit
- Permanent flexion of the finger
- Bilateral single transverse palmar creases
- Knock knees
- Talipes
- Cone-shaped end part of the innermost hand bones
- Cone-shaped end part of the middle hand bones
- Dropped arches
- Flat end part of innermost thighbone
- Increased bone density of end part of the outermost hand bones
- Short finger
- Short finger bones
- Short foot
- Short palm
- Swelling of innermost hinge joints
- Winged shoulder blade
Abnormality of the integument
- Fine hair
- Hyperkeratosis
- Sparse hair
- Brittle nails
- Loose redundant skin
- White discoloration of nails
- Slow-growing hair
- Spoon-shaped nails
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.). TRPS1 gene: transcriptional repressor GATA binding 1. Retrieved 16 October 2026, from https://dantelabs.com/genes/trps1
Dante Labs. TRPS1 gene: transcriptional repressor GATA binding 1 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/trps1
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