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Gene

PRPF8

pre-mRNA processing factor 8

Summary

Cytogenetic location
17p13.3
Coordinates
Chromosome 17: 1,650,629–1,684,867 (GRCh38)
Exons
43 exons across 34.2 kb
Protein
2,335 amino acids
Inheritance
Autosomal dominant
Also known as
PRPC8, Prp8, hPrp8, SNRNP220
Previous symbols
RP13
MANE Select transcript
ENST00000304992.11NM_006445.4
Locus type
gene with protein product
  • Very high
  • Confident
  • Low
  • Very low

Reference genomeGRCh38

Positions on gene and variant pages follow this choice, in this browser.

Curated report relevant to this gene

  • Retinitis Pigmentosa

    • PRPF8-Related RetinopathyAutosomal dominant

      A retinal dystrophy caused by changes in the PRPF8 gene.

      • ClinGen rates the link definitive
      • 4 GenCC submitters rate it definitive or strong

    • One of 77 genes linked to it

      A group of inherited retinal dystrophies with progressive loss of rod and then cone photoreceptors, causing night blindness and gradual loss of peripheral vision.

      • 3 GenCC submitters rate it definitive or strong

Inheritance

Autosomal dominant
One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How PRPF8 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 17, with a bracket where PRPF8 sits. PRPF8 and 22 genes near it on chromosome 17, from 1,167,748 to 2,167,747.Chromosome 1717p13.3p13.3p13.2p13.1p12p11.2p11.1q11.1q11.2q12q21.1q21.2q21.31q21.32q21.33q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.31.2 Mb1.4 Mb1.6 Mb1.8 Mb2 MbABR: 1,003,519–1,229,738, reverse strandABRBHLHA9: 1,270,444–1,271,815, forward strandBHLHA9TRARG1: 1,279,554–1,300,978, forward strandTRARG1YWHAE: 1,344,275–1,400,326, reverse strandYWHAECRK: 1,420,689–1,463,162, reverse strandCRKMYO1C: 1,464,186–1,492,707, reverse strandMYO1CINPP5K: 1,494,571–1,516,759, reverse strandINPP5KPITPNA: 1,517,718–1,562,861, reverse strandPITPNASLC43A2: 1,569,268–1,630,103, reverse strandSLC43A2SCARF1: 1,633,848–1,646,122, reverse strandSCARF1RILP: 1,646,138–1,650,083, reverse strandRILPPRPF8: 1,650,629–1,684,867, reverse strandPRPF8TLCD2: 1,688,598–1,710,639, reverse strandTLCD2WDR81: 1,716,523–1,738,599, forward strandWDR81SERPINF2: 1,742,069–1,755,271, forward strandSERPINF2SERPINF1: 1,761,958–1,777,627, forward strandSERPINF1SMYD4: 1,779,485–1,830,634, reverse strandSMYD4RPA1: 1,829,702–1,900,082, forward strandRPA1RTN4RL1: 1,934,677–2,025,355, reverse strandRTN4RL1DPH1: 2,030,136–2,043,898, forward strandDPH1OVCA2: 2,042,022–2,043,898, forward strandOVCA2HIC1: 2,054,154–2,063,241, forward strandHIC1SMG6: 2,059,839–2,303,934, reverse strandSMG6Diagram of PRPF8: 43 exons on the reverse strand of chromosome 17Exon 43: 14 known disease-causing sitesExon 42: 1 known disease-causing siteExon 40: 1 known disease-causing siteExon 37: 1 known disease-causing siteExon 36: 1 known disease-causing siteExon 34: 1 known disease-causing siteExon 28: 2 known disease-causing sitesExon 23: 1 known disease-causing siteExon 7: 1 known disease-causing siteExon 43: 1,650,629–1,650,956, 328 basesExon 42: 1,651,108–1,651,310, 203 basesExon 41: 1,651,414–1,651,553, 140 basesExon 40: 1,651,648–1,651,788, 141 basesExon 39: 1,653,542–1,653,683, 142 basesExon 38: 1,653,777–1,654,016, 240 basesExon 37: 1,655,350–1,655,543, 194 basesExon 36: 1,656,392–1,656,565, 174 basesExon 35: 1,656,648–1,656,761, 114 basesExon 34: 1,658,253–1,658,381, 129 basesExon 33: 1,658,526–1,658,763, 238 basesExon 32: 1,659,357–1,659,548, 192 basesExon 31: 1,659,841–1,660,001, 161 basesExon 30: 1,660,432–1,660,578, 147 basesExon 29: 1,660,698–1,660,827, 130 basesExon 28: 1,660,993–1,661,162, 170 basesExon 27: 1,661,271–1,661,406, 136 basesExon 26: 1,661,611–1,661,790, 180 basesExon 25: 1,661,906–1,662,153, 248 basesExon 24: 1,673,081–1,673,197, 117 basesExon 23: 1,673,357–1,673,567, 211 basesExon 22: 1,673,746–1,673,892, 147 basesExon 21: 1,674,442–1,674,680, 239 basesExon 20: 1,675,152–1,675,339, 188 basesExon 19: 1,675,620–1,675,812, 193 basesExon 18: 1,675,928–1,676,054, 127 basesExon 17: 1,676,207–1,676,370, 164 basesExon 16: 1,676,505–1,676,711, 207 basesExon 15: 1,676,976–1,677,172, 197 basesExon 14: 1,677,565–1,677,694, 130 basesExon 13: 1,678,518–1,678,652, 135 basesExon 12: 1,678,762–1,678,881, 120 basesExon 11: 1,679,017–1,679,206, 190 basesExon 10: 1,679,291–1,679,410, 120 basesExon 9: 1,679,609–1,679,799, 191 basesExon 8: 1,680,726–1,680,831, 106 basesExon 7: 1,680,929–1,681,054, 126 basesExon 6: 1,681,478–1,681,690, 213 basesExon 5: 1,681,820–1,682,038, 219 basesExon 4: 1,682,129–1,682,293, 165 basesExon 3: 1,683,533–1,683,701, 169 basesExon 2: 1,684,472–1,684,582, 111 basesExon 1: 1,684,780–1,684,867, 88 bases4340353025201510515′3′

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 7.3 kb of the gene's 34.2 kb; 7,008 of those bases code for the protein.

How a genome test reads PRPF8

26

positions in PRPF8 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 34.2 kb of PRPF8, introns included, not only the 7.3 kb of exons.

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.
  • GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
  • The ACMG secondary findings list, SF v3.2.
  • 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

APA

Dante Labs. (n.d.). PRPF8 gene: pre-mRNA processing factor 8. Retrieved 17 October 2026, from https://dantelabs.com/genes/prpf8

Vancouver

Dante Labs. PRPF8 gene: pre-mRNA processing factor 8 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/prpf8

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