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Gene

POPDC1

popeye domain cAMP effector 1

Summary

Cytogenetic location
6q21
Coordinates
Chromosome 6: 105,096,822–105,137,157 (GRCh38)
Exons
8 exons across 40.3 kb
Protein
360 amino acids
Also known as
POP1, HBVES
Previous symbols
BVES
MANE Select transcript
ENST00000314641.10NM_001199563.2
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

  • Limb-Girdle Muscular Dystrophy

    • Limb-girdle Muscular Dystrophy is defined as a collection of numerous subtypes with differing inheritance patterns (with diagnostic sufficiency being varied too). Carriers of variants related to the condition should seek guidance from a muscular-skeletal specialist for a definitive diagnosis.

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

How POPDC1 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 6, with a bracket where POPDC1 sits. POPDC1 and 4 genes near it on chromosome 6, from 104,616,990 to 105,616,989.Chromosome 66q21p25.3p25.2p25.1p24.3p24.2p24.1p23p22.3p22.2p22.1p21.33p21.32p21.31p21.2p21.1p12.3p12.2p12.1p11.2p11.1q11.1q11.2q12q13q14.1q14.2q14.3q15q16.1q16.2q16.3q21q22.1q22.2q22.31q22.32q22.33q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q26q27104.8 Mb105 Mb105.2 Mb105.4 Mb105.6 MbHACE1: 104,728,093–104,859,947, reverse strandHACE1LIN28B: 104,936,616–105,083,332, forward strandLIN28BPOPDC1: 105,096,822–105,137,157, reverse strandPOPDC1POPDC3: 105,157,892–105,180,447, reverse strandPOPDC3PREP: 105,273,218–105,454,062, reverse strandPREPDiagram of POPDC1: 8 exons on the reverse strand of chromosome 6Exon 5: 2 known disease-causing sitesExon 4: 1 known disease-causing siteExon 3: 1 known disease-causing siteExon 8: 105,096,822–105,101,213, 4,392 basesExon 7: 105,115,686–105,115,827, 142 basesExon 6: 105,116,701–105,116,868, 168 basesExon 5: 105,124,547–105,124,655, 109 basesExon 4: 105,125,391–105,125,578, 188 basesExon 3: 105,129,379–105,129,503, 125 basesExon 2: 105,133,352–105,133,588, 237 basesExon 1: 105,136,969–105,137,157, 189 bases876543215′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 5.6 kb of the gene's 40.3 kb; 1,083 of those bases code for the protein.

How a genome test reads POPDC1

5

positions in POPDC1 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 40.3 kb of POPDC1, introns included, not only the 5.6 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.
  • 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.). POPDC1 gene: popeye domain cAMP effector 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/popdc1

Vancouver

Dante Labs. POPDC1 gene: popeye domain cAMP effector 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/popdc1

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