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Gene

PUF60

poly(U) binding splicing factor 60

Summary

Cytogenetic location
8q24.3
Coordinates
Chromosome 8: 143,816,344–143,829,315 (GRCh38)
Exons
12 exons across 13 kb
Protein
559 amino acids
Also known as
FIR, SIAHBP1, RoBPI
MANE Select transcript
ENST00000526683.6NM_078480.3
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

    • Intellectual Disability

      • One of 233 genes linked to it

        • ClinGen rates the link definitive
        • 1 GenCC submitter rates it definitive or strong

    How PUF60 is laid out

    • Coding sequence
    • Untranslated region
    • Intron
    • Direction of transcription
    • Known disease-causing sites
    • Stretches short reads find hard
    Chromosome 8, with a bracket where PUF60 sits. PUF60 and 38 genes near it on chromosome 8, from 143,322,830 to 144,322,829.Chromosome 88q24.3p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.3143.4 Mb143.6 Mb143.8 Mb144 Mb144.2 MbTOP1MT: 143,301,453–143,359,979, reverse strandTOP1MTRHPN1: 143,368,810–143,384,221, forward strandRHPN1MAFA: 143,419,182–143,430,732, reverse strandMAFAZC3H3: 143,437,655–143,541,578, reverse strandZC3H3GSDMD: 143,553,207–143,563,062, forward strandGSDMDMROH6: 143,566,188–143,573,110, reverse strandNAPRT: 143,574,782–143,578,649, reverse strandEEF1D: 143,579,697–143,599,541, reverse strandTIGD5: 143,597,831–143,603,224, forward strandTIGD5PYCR3: 143,603,210–143,609,773, reverse strandPYCR3GFUS: 143,612,617–143,618,048, reverse strandGFUSZNF623: 143,635,518–143,656,418, forward strandZNF623ZNF707: 143,684,452–143,713,898, forward strandCCDC166: 143,706,694–143,708,109, reverse strandCCDC166MAPK15: 143,716,279–143,722,458, forward strandMAPK15SACK1H: 143,723,933–143,740,732, reverse strandSACK1HIQANK1: 143,733,510–143,790,645, forward strandIQANK1SCRIB: 143,790,920–143,815,792, reverse strandSCRIBPUF60: 143,816,344–143,829,315, reverse strandPUF60NRBP2: 143,833,583–143,841,109, reverse strandNRBP2EPPK1: 143,857,324–143,878,468, reverse strandEPPK1PLEC: 143,915,152–143,977,039, reverse strandPLECPARP10: 143,977,151–144,019,930, reverse strandPARP10GRINA: 143,990,048–143,994,935, forward strandGRINASPATC1: 144,012,275–144,047,114, forward strandSPATC1OPLAH: 144,051,265–144,064,091, reverse strandOPLAHEXOSC4: 144,078,560–144,081,408, forward strandEXOSC4: 144,078,642–144,084,330, forward strandGPAA1: 144,082,337–144,093,149, forward strandGPAA1CYC1: 144,095,039–144,097,525, forward strandSHARPIN: 144,097,513–144,108,124, reverse strandMAF1: 144,103,112–144,107,618, forward strandWDR97: 144,107,726–144,118,328, forward strandHGH1: 144,137,774–144,140,851, forward strandHGH1MROH1: 144,147,975–144,262,470, forward strandMROH1BOP1: 144,262,045–144,291,453, reverse strandBOP1SCX: 144,266,446–144,268,481, forward strandSCXHSF1: 144,291,521–144,314,729, forward strandHSF1DGAT1: 144,314,584–144,326,916, reverse strandDGAT1Diagram of PUF60: 12 exons on the reverse strand of chromosome 8Exon 12: 6 known disease-causing sitesExon 11: 5 known disease-causing sitesExon 10: 4 known disease-causing sitesExon 9: 9 known disease-causing sitesExon 8: 13 known disease-causing sitesExon 7: 2 known disease-causing sitesExon 6: 11 known disease-causing sitesExon 4: 4 known disease-causing sitesExon 3: 1 known disease-causing siteExon 12: 143,816,344–143,816,819, 476 basesExon 11: 143,816,910–143,817,145, 236 basesExon 10: 143,817,331–143,817,466, 136 basesExon 9: 143,817,592–143,817,782, 191 basesExon 8: 143,817,862–143,818,075, 214 basesExon 7: 143,818,193–143,818,285, 93 basesExon 6: 143,818,373–143,818,534, 162 basesExon 5: 143,820,666–143,820,716, 51 basesExon 4: 143,821,597–143,821,686, 90 basesExon 3: 143,821,818–143,821,913, 96 basesExon 2: 143,824,313–143,824,399, 87 basesExon 1: 143,829,280–143,829,315, 36 bases1211109876543215′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 1.9 kb of the gene's 13 kb; 1,680 of those bases code for the protein.

    How a genome test reads PUF60

    62

    positions in PUF60 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 13 kb of PUF60, introns included, not only the 1.9 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.). PUF60 gene: poly(U) binding splicing factor 60. Retrieved 16 October 2026, from https://dantelabs.com/genes/puf60

    Vancouver

    Dante Labs. PUF60 gene: poly(U) binding splicing factor 60 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/puf60

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