Gene
RSPRY1
ring finger and SPRY domain containing 1
- HGNC 29420↗(opens in a new tab)
- Ensembl gene ENSG00000159579↗(opens in a new tab)
- NCBI Gene 89970↗(opens in a new tab)
Summary
- Cytogenetic location
- 16q13
- Coordinates
- Chromosome 16: 57,186,329–57,240,469 (GRCh38)
- Exons
- 15 exons across 54.1 kb
- Protein
- 576 amino acids
- Also known as
- KIAA1972
- MANE Select transcript
- ENST00000394420.9NM_133368.3
- 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 RSPRY1 yet. The test sequences your whole genome, so your data includes it all the same.
How RSPRY1 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 3.5 kb of the gene's 54.1 kb; 1,731 of those bases code for the protein.
How a genome test reads RSPRY1
4
positions in RSPRY1 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 54.1 kb of RSPRY1, introns included, not only the 3.5 kb of exons.
Traits linked to RSPRY1
The Human Phenotype Ontology lists these as features of the rare conditions RSPRY1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of limbs
- Limited elbow extension
- Overlapping toe
- Short 4th long bone of foot
- Short neck of thighbone
- Small carpal bones
- Abnormality of the knee
- Short fingers or toes
- Coxa vara
Show 16 more traits
- Curvature of little finger
- Distal femoral bowing
- Dropped arches
- Irregularity of wide portion of calf bone
- Knock knees
- Outward turned elbows
- Prominent heel bone
- Rocker bottom foot
- Short palm
- Shortened long bone of hand
- Slipped end part of innermost thighbone
- Tibial metaphyseal irregularity
- Flat head of thigh bone
- High-arched foot
- Toe curvature
- Bowed thighbone
Abnormality of the musculoskeletal system
- Delayed bone maturation
- Flattened vertebrae
- Scoliosis
- Abnormality of the hip bone
- Cone-shaped end part of bone
- Kyphoscoliosis
- Osteopenia
- Spondyloepimetaphyseal dysplasia
Show 12 more traits
Abnormality of the nervous system
- Autism spectrum disorder
- Delayed speech and language development
- Intellectual disability
- Motor delay
- Abnormal gait
- Intellectual disability, mild
- Severe expressive language delay
- IQ between 34 and 49
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.). RSPRY1 gene: ring finger and SPRY domain containing 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/rspry1
Dante Labs. RSPRY1 gene: ring finger and SPRY domain containing 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/rspry1
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