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Gene

PIGP

phosphatidylinositol glycan anchor biosynthesis class P

Summary

Cytogenetic location
21q22.13
Coordinates
Chromosome 21: 37,065,374–37,073,071 (GRCh38)
Exons
5 exons across 7.7 kb
Protein
134 amino acids
Also known as
DCRC, DSRC
Previous symbols
DSCR5
MANE Select transcript
ENST00000360525.9NM_153682.3
Locus type
Protein-coding
  • Very high
  • Confident
  • Low
  • Very low

Curated reports relevant to this gene

  • GPI Anchor Biosynthesis Defects

    • Disorders of GPI Anchor Biosynthesis

      A group of inherited conditions caused by variants in the PIG, PGAP and related genes needed to make and attach the GPI anchor, typically causing developmental delay, low muscle tone and epilepsy.

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

Broader groupings

  • Epilepsy (Full Panel)

    • Epilepsy

      One of 171 genes linked to it

      A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.

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

How PIGP is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 21, with a bracket where PIGP sits. PIGP and 7 genes near it on chromosome 21, from 36,569,223 to 37,569,222.Chromosome 2121q22.13p13p12p11.2p11.1q11.1q11.2q21.1q21.2q21.3q22.11q22.12q22.13q22.2q22.336.6 Mb36.8 Mb37 Mb37.2 Mb37.4 MbCLDN14: 36,460,616–36,576,569, reverse strandCLDN14SIM2: 36,699,104–36,751,135, forward strandSIM2HLCS: 36,748,626–36,990,236, reverse strandHLCSRIPPLY3: 37,006,150–37,019,662, forward strandRIPPLY3PIGP: 37,065,374–37,073,071, reverse strandPIGPTTC3: 37,073,206–37,203,112, forward strandTTC3VPS26C: 37,221,749–37,268,104, reverse strandVPS26CDYRK1A: 37,365,573–37,526,358, forward strandDYRK1ADiagram of PIGP: 5 exons on the reverse strand of chromosome 21Exon 5: 1 known disease-causing siteExon 2: 1 known disease-causing siteExon 5: 37,065,374–37,065,712, 339 basesExon 4: 37,067,262–37,067,380, 119 basesExon 3: 37,069,552–37,069,624, 73 basesExon 2: 37,072,434–37,072,537, 104 basesExon 1: 37,073,000–37,073,071, 72 bases543215′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 0.7 kb of the gene's 7.7 kb; 405 of those bases code for the protein.

Sequencing PIGP

4Easy

How hard PIGP is to sequence with short reads, out of 100

Almost all of PIGP's exons sit where short reads map cleanly.

What adds to it: the share of PIGP's exons in each kind of hard region

  • Mappability0%
  • Homology0%
  • Repeats0%
  • GC content42%
  • Reference coverage0%

A Dante Labs score from our own research, built on NIST's Genome in a Bottle maps of hard-to-sequence regions.How it's scored

2

positions in PIGP 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 7.7 kb of PIGP, introns included, not only the 0.7 kb of exons.

ClinVar pathogenic variants (2)

The PIGP variants ClinVar classifies pathogenic or likely pathogenic for any condition, reviewed by at least one submitter with criteria, and the most reviewed of them. It is ClinVar's public record of the gene, never a result.

  • Pathogenic/likely pathogenic 1
  • Likely pathogenic 1
VariantConditionsClinVar classificationReview status
NM_153682.3(PIGP):c.384del (p.Glu129fs) (opens in a new tab)developmental and epileptic encephalopathy, 55Pathogenic/likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts
NM_153682.3(PIGP):c.2T>C (p.Met1Thr) (opens in a new tab)developmental and epileptic encephalopathy, 55Likely pathogenic2 stars out of 4 criteria provided, multiple submitters, no conflicts

Genes linked to the same conditions

Traits linked to PIGP

The Human Phenotype Ontology lists these as features of the rare conditions PIGP can cause. Each trait's page lists the other genes linked to it.

Abnormality of the nervous system

Show 37 more traits

External links

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 2026-10-17: 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 Genome in a Bottle genome stratifications, from NIST: the sequencing difficulty score.
  • The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
  • Data release 2026.10.17-8666dff2.

Cite this page

APA

Dante Labs. (n.d.). PIGP gene: phosphatidylinositol glycan anchor biosynthesis class P. Retrieved 18 October 2026, from https://dantelabs.com/genes/pigp

Vancouver

Dante Labs. PIGP gene: phosphatidylinositol glycan anchor biosynthesis class P [Internet]. [cited 18 October 2026]. Available from: https://dantelabs.com/genes/pigp

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