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Gene

PLD1

phospholipase D1

Summary

Cytogenetic location
3q26.31
Coordinates
Chromosome 3: 171,600,404–171,810,483 (GRCh38)
Exons
27 exons across 210.1 kb
Protein
1,074 amino acids
MANE Select transcript
ENST00000351298.9NM_002662.5
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 reports relevant to this gene

No Genome Test report reads PLD1 yet. The test sequences your whole genome, so your data includes it all the same.

How PLD1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 3, with a bracket where PLD1 sits. PLD1 and 3 genes near it on chromosome 3, from 171,205,444 to 172,205,443.Chromosome 33q26.31p26.3p26.2p26.1p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p14.3p14.2p14.1p13p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12.1q12.2q12.3q13.11q13.12q13.13q13.2q13.31q13.32q13.33q21.1q21.2q21.3q22.1q22.2q22.3q23q24q25.1q25.2q25.31q25.32q25.33q26.1q26.2q26.31q26.32q26.33q27.1q27.2q27.3q28q29171.4 Mb171.6 Mb171.8 Mb172 Mb172.2 MbTNIK: 171,058,414–171,460,473, reverse strandTNIKPLD1: 171,600,404–171,810,483, reverse strandPLD1TMEM212: 171,843,338–171,938,715, forward strandTMEM212FNDC3B: 172,039,547–172,405,418, forward strandFNDC3BDiagram of PLD1: 27 exons on the reverse strand of chromosome 3Exon 24: 1 known disease-causing siteExon 22: 1 known disease-causing siteExon 18: 3 known disease-causing sitesExon 15: 1 known disease-causing siteExon 14: 2 known disease-causing sitesExon 12: 1 known disease-causing siteExon 11: 1 known disease-causing siteExon 10: 1 known disease-causing siteExon 9: 1 known disease-causing siteExon 27: 171,600,404–171,603,302, 2,899 basesExon 26: 171,605,299–171,605,416, 118 basesExon 25: 171,612,279–171,612,432, 154 basesExon 24: 171,620,386–171,620,520, 135 basesExon 23: 171,642,840–171,642,889, 50 basesExon 22: 171,644,910–171,645,023, 114 basesExon 21: 171,659,213–171,659,301, 89 basesExon 20: 171,662,060–171,662,170, 111 basesExon 19: 171,674,500–171,674,613, 114 basesExon 18: 171,676,715–171,676,833, 119 basesExon 17: 171,677,566–171,677,694, 129 basesExon 16: 171,686,685–171,686,798, 114 basesExon 15: 171,687,371–171,687,584, 214 basesExon 14: 171,688,676–171,688,876, 201 basesExon 13: 171,692,332–171,692,442, 111 basesExon 12: 171,699,745–171,699,826, 82 basesExon 11: 171,708,755–171,708,838, 84 basesExon 10: 171,709,560–171,709,709, 150 basesExon 9: 171,713,893–171,714,045, 153 basesExon 8: 171,724,696–171,724,788, 93 basesExon 7: 171,726,018–171,726,076, 59 basesExon 6: 171,733,444–171,733,509, 66 basesExon 5: 171,734,865–171,734,970, 106 basesExon 4: 171,735,492–171,735,637, 146 basesExon 3: 171,737,532–171,737,659, 128 basesExon 2: 171,737,892–171,738,082, 191 basesExon 1: 171,810,399–171,810,483, 85 bases2725201510515′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 6 kb of the gene's 210.1 kb; 3,225 of those bases code for the protein.

How a genome test reads PLD1

18

positions in PLD1 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 210.1 kb of PLD1, introns included, not only the 6 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.). PLD1 gene: phospholipase D1. Retrieved 17 October 2026, from https://dantelabs.com/genes/pld1

Vancouver

Dante Labs. PLD1 gene: phospholipase D1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/pld1

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