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Gene

PRPF6

pre-mRNA processing factor 6

Summary

Cytogenetic location
20q13.33
Coordinates
Chromosome 20: 63,981,132–64,033,100 (GRCh38)
Exons
21 exons across 52 kb
Protein
941 amino acids
Also known as
TOM, bB152O15.1, ANT-1, U5-102K, Prp6, hPrp6, SNRNP102, RP60
Previous symbols
C20orf14
MANE Select transcript
ENST00000266079.5NM_012469.4
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

      • 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.

        • 1 GenCC submitter rates it definitive or strong

    How PRPF6 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 20, with a bracket where PRPF6 sits. PRPF6 and 32 genes near it on chromosome 20, from 63,507,116 to 64,507,115.Chromosome 2020q13.33p13p12.3p12.2p12.1p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12q13.11q13.12q13.13q13.2q13.31q13.32q13.3363.6 Mb63.8 Mb64 Mb64.2 Mb64.4 MbPPDPF: 63,520,255–63,532,108, forward strandPTK6: 63,526,306–63,537,770, reverse strandPTK6SRMS: 63,538,489–63,547,752, reverse strandSRMSFNDC11: 63,547,891–63,558,138, forward strandFNDC11HELZ2: 63,558,086–63,574,239, reverse strandHELZ2GMEB2: 63,587,601–63,628,426, reverse strandGMEB2STMN3: 63,639,705–63,657,682, reverse strandSTMN3RTEL1: 63,657,810–63,696,253, forward strandRTEL1RTEL1-TNFRSF6B: 63,659,300–63,698,684, forward strandTNFRSF6B: 63,696,368–63,698,689, forward strandARFRP1: 63,698,622–63,708,662, reverse strandZGPAT: 63,707,353–63,736,150, forward strand: 63,708,864–63,739,103, forward strandLIME1: 63,736,283–63,739,108, forward strandLIME1: 63,738,270–63,740,398, forward strandSLC2A4RG: 63,739,758–63,744,603, forward strandSLC2A4RGZBTB46: 63,743,668–63,832,455, reverse strandZBTB46ABHD16B: 63,861,498–63,862,988, forward strandABHD16BTPD52L2: 63,865,199–63,892,266, forward strandTPD52L2DNAJC5: 63,894,641–63,939,899, forward strandDNAJC5UCKL1: 63,939,811–63,956,500, reverse strandUCKL1ZNF512B: 63,956,704–63,969,967, reverse strandZNF512BSAMD10: 63,973,610–63,980,008, reverse strandSAMD10PRPF6: 63,981,132–64,033,100, forward strandPRPF6C20orf204: 64,034,344–64,039,962, forward strandC20orf204SOX18: 64,047,582–64,050,629, reverse strandSOX18TCEA2: 64,049,836–64,072,352, forward strandTCEA2RGS19: 64,073,181–64,079,988, reverse strandRGS19OPRL1: 64,079,967–64,100,649, forward strandLKAAEAR1: 64,083,376–64,084,967, reverse strandMYT1: 64,102,222–64,242,253, forward strandMYT1NPBWR2: 64,103,802–64,107,565, reverse strandPCMTD2: 64,254,921–64,304,820, forward strandPCMTD2Diagram of PRPF6: 21 exons on the forward strand of chromosome 20Exon 12: 1 known disease-causing siteExon 21: 1 known disease-causing siteExon 1: 63,981,132–63,981,316, 185 basesExon 2: 63,983,047–63,983,215, 169 basesExon 3: 63,984,907–63,985,025, 119 basesExon 4: 63,993,407–63,993,485, 79 basesExon 5: 63,994,916–63,995,092, 177 basesExon 6: 63,995,327–63,995,482, 156 basesExon 7: 63,999,045–63,999,139, 95 basesExon 8: 63,999,603–63,999,759, 157 basesExon 9: 64,001,077–64,001,239, 163 basesExon 10: 64,010,200–64,010,318, 119 basesExon 11: 64,011,285–64,011,503, 219 basesExon 12: 64,016,723–64,016,845, 123 basesExon 13: 64,022,757–64,022,878, 122 basesExon 14: 64,024,555–64,024,693, 139 basesExon 15: 64,025,939–64,026,058, 120 basesExon 16: 64,026,982–64,027,158, 177 basesExon 17: 64,027,603–64,027,736, 134 basesExon 18: 64,028,478–64,028,569, 92 basesExon 19: 64,029,377–64,029,491, 115 basesExon 20: 64,031,918–64,032,044, 127 basesExon 21: 64,032,841–64,033,100, 260 bases1215′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 3 kb of the gene's 52 kb; 2,826 of those bases code for the protein.

    How a genome test reads PRPF6

    2

    positions in PRPF6 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 52 kb of PRPF6, introns included, not only the 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.). PRPF6 gene: pre-mRNA processing factor 6. Retrieved 17 October 2026, from https://dantelabs.com/genes/prpf6

    Vancouver

    Dante Labs. PRPF6 gene: pre-mRNA processing factor 6 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/prpf6

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