Gene
NSRP1
nuclear speckle splicing regulatory protein 1
- HGNC 25305↗(opens in a new tab)
- Ensembl gene ENSG00000126653↗(opens in a new tab)
- NCBI Gene 84081↗(opens in a new tab)
Summary
- Cytogenetic location
- 17q11.2
- Coordinates
- Chromosome 17: 30,116,816–30,186,475 (GRCh38)
- Exons
- 7 exons across 69.7 kb
- Protein
- 558 amino acids
- Also known as
- DKFZP434K1421, NSrp70
- Previous symbols
- CCDC55
- MANE Select transcript
- ENST00000247026.10NM_032141.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
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No Genome Test report reads NSRP1 yet. The test sequences your whole genome, so your data includes it all the same.
How NSRP1 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 2.5 kb of the gene's 69.7 kb; 1,677 of those bases code for the protein.
How a genome test reads NSRP1
2
positions in NSRP1 where ClinVar classes a change as pathogenic or likely pathogenic
2 of them (100%) fall in regions short reads find hard.
- Segmental duplications (2 sites)Copies of at least 1 kb sharing at least 90% identity with another part of the genome (paralogues, pseudogenes); reads may align to the wrong copy.
A whole genome covers all 69.7 kb of NSRP1, introns included, not only the 2.5 kb of exons.
Traits linked to NSRP1
The Human Phenotype Ontology lists these as features of the rare conditions NSRP1 can cause. Each trait's page lists the other genes linked to it.
Abnormality of head or neck
- Abnormally small head
- Downward slanting of the opening between the eyelids
- High forehead
- High palate
- Short philtrum
- Tented mouth
- Big lower jaw
- Depressed nasal bridge
Show 3 more traits
Abnormality of the nervous system
- Epilepsy
- Global developmental delay
- Interictal epileptiform activity
- Absent speech development
- Cerebellar vermis hypoplasia
- Cerebral palsy
- Increased reflexes
- Simplified gyral pattern
Show 3 more traits
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.). NSRP1 gene: nuclear speckle splicing regulatory protein 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/nsrp1
Dante Labs. NSRP1 gene: nuclear speckle splicing regulatory protein 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/nsrp1
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