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Gene

PKHD1L1

PKHD1 like 1

Summary

Cytogenetic location
8q23.1-q23.2
Coordinates
Chromosome 8: 109,362,461–109,537,207 (GRCh38)
Exons
78 exons across 174.7 kb
Protein
4,243 amino acids
MANE Select transcript
ENST00000378402.10NM_177531.6
Locus type
gene with protein product

Reference genomeGRCh38

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

Curated reports relevant to this gene

No Genome Test report reads PKHD1L1 yet. The test sequences your whole genome, so your data includes it all the same.

How PKHD1L1 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 PKHD1L1 sits. PKHD1L1 and 6 genes near it on chromosome 8, from 108,949,834 to 109,949,833.Chromosome 88q23.1-q23.2p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.3109 Mb109.2 Mb109.4 Mb109.6 Mb109.8 MbTRHR: 109,086,585–109,121,565, forward strandTRHRNUDCD1: 109,138,683–109,334,493, reverse strandNUDCD1ENY2: 109,333,555–109,345,954, forward strandENY2PKHD1L1: 109,362,461–109,537,207, forward strandPKHD1L1EBAG9: 109,539,621–109,570,072, forward strandEBAG9EBAG9UORF: 109,539,726–109,539,800, forward strandEBAG9UORFSYBU: 109,573,978–109,691,799, reverse strandSYBUDiagram of PKHD1L1: 78 exons on the forward strand of chromosome 8Exon 6: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 13: 1 known disease-causing siteExon 16: 1 known disease-causing siteExon 21: 1 known disease-causing siteExon 25: 1 known disease-causing siteExon 30: 1 known disease-causing siteExon 39: 1 known disease-causing siteExon 43: 1 known disease-causing siteExon 47: 1 known disease-causing siteExon 49: 1 known disease-causing siteExon 50: 2 known disease-causing sitesExon 53: 1 known disease-causing siteExon 56: 1 known disease-causing siteExon 73: 1 known disease-causing siteExon 1: 109,362,461–109,362,653, 193 basesExon 2: 109,364,547–109,364,636, 90 basesExon 3: 109,381,370–109,381,514, 145 basesExon 4: 109,382,463–109,382,571, 109 basesExon 5: 109,384,070–109,384,127, 58 basesExon 6: 109,385,537–109,385,630, 94 basesExon 7: 109,388,497–109,388,550, 54 basesExon 8: 109,389,079–109,389,152, 74 basesExon 9: 109,390,452–109,390,494, 43 basesExon 10: 109,394,415–109,394,485, 71 basesExon 11: 109,396,027–109,396,137, 111 basesExon 12: 109,398,459–109,398,548, 90 basesExon 13: 109,400,076–109,400,344, 269 basesExon 14: 109,401,497–109,401,588, 92 basesExon 15: 109,404,554–109,404,713, 160 basesExon 16: 109,404,995–109,405,130, 136 basesExon 17: 109,406,335–109,406,478, 144 basesExon 18: 109,408,049–109,408,206, 158 basesExon 19: 109,409,865–109,409,978, 114 basesExon 20: 109,412,265–109,412,414, 150 basesExon 21: 109,413,421–109,413,545, 125 basesExon 22: 109,419,097–109,419,260, 164 basesExon 23: 109,420,518–109,420,690, 173 basesExon 24: 109,425,085–109,425,232, 148 basesExon 25: 109,427,002–109,427,156, 155 basesExon 26: 109,429,340–109,429,462, 123 basesExon 27: 109,429,932–109,430,037, 106 basesExon 28: 109,433,106–109,433,216, 111 basesExon 29: 109,435,190–109,435,354, 165 basesExon 30: 109,436,338–109,436,459, 122 basesExon 31: 109,438,324–109,438,456, 133 basesExon 32: 109,438,897–109,439,092, 196 basesExon 33: 109,440,710–109,440,852, 143 basesExon 34: 109,441,275–109,441,379, 105 basesExon 35: 109,442,007–109,442,195, 189 basesExon 36: 109,442,946–109,443,116, 171 basesExon 37: 109,443,676–109,443,902, 227 basesExon 38: 109,444,661–109,445,645, 985 basesExon 39: 109,448,143–109,448,391, 249 basesExon 40: 109,449,338–109,449,487, 150 basesExon 41: 109,450,975–109,451,149, 175 basesExon 42: 109,452,124–109,452,280, 157 basesExon 43: 109,452,718–109,452,874, 157 basesExon 44: 109,454,167–109,454,246, 80 basesExon 45: 109,454,723–109,454,852, 130 basesExon 46: 109,456,262–109,456,391, 130 basesExon 47: 109,459,595–109,459,836, 242 basesExon 48: 109,461,772–109,461,908, 137 basesExon 49: 109,464,216–109,465,245, 1,030 basesExon 50: 109,466,578–109,466,769, 192 basesExon 51: 109,475,118–109,475,269, 152 basesExon 52: 109,476,508–109,476,667, 160 basesExon 53: 109,477,225–109,477,396, 172 basesExon 54: 109,479,551–109,479,639, 89 basesExon 55: 109,479,991–109,480,139, 149 basesExon 56: 109,481,433–109,481,562, 130 basesExon 57: 109,482,987–109,483,105, 119 basesExon 58: 109,485,044–109,485,173, 130 basesExon 59: 109,486,648–109,486,821, 174 basesExon 60: 109,489,952–109,490,055, 104 basesExon 61: 109,490,972–109,491,101, 130 basesExon 62: 109,491,873–109,491,994, 122 basesExon 63: 109,493,661–109,493,751, 91 basesExon 64: 109,496,919–109,497,067, 149 basesExon 65: 109,497,150–109,497,272, 123 basesExon 66: 109,498,462–109,498,573, 112 basesExon 67: 109,498,655–109,498,771, 117 basesExon 68: 109,504,327–109,504,492, 166 basesExon 69: 109,507,663–109,507,895, 233 basesExon 70: 109,508,097–109,508,264, 168 basesExon 71: 109,510,777–109,510,934, 158 basesExon 72: 109,515,170–109,515,305, 136 basesExon 73: 109,518,167–109,518,508, 342 basesExon 74: 109,522,186–109,522,337, 152 basesExon 75: 109,522,744–109,522,890, 147 basesExon 76: 109,523,233–109,523,386, 154 basesExon 77: 109,526,784–109,527,020, 237 basesExon 78: 109,530,080–109,537,207, 7,128 bases151015202530354045505560657075785′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 20 kb of the gene's 174.7 kb; 12,732 of those bases code for the protein.

How a genome test reads PKHD1L1

18

positions in PKHD1L1 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 174.7 kb of PKHD1L1, introns included, not only the 20 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.
  • 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.). PKHD1L1 gene: PKHD1 like 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/pkhd1l1

Vancouver

Dante Labs. PKHD1L1 gene: PKHD1 like 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pkhd1l1

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