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Gene

PAX7

paired box 7

Summary

Cytogenetic location
1p36.13
Coordinates
Chromosome 1: 18,630,846–18,748,866 (GRCh38)
Exons
9 exons across 118 kb
Protein
505 amino acids
Also known as
Hup1
MANE Select transcript
ENST00000420770.7NM_001135254.2
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 reports relevant to this gene

No Genome Test report reads PAX7 yet. The test sequences your whole genome, so your data includes it all the same.

How PAX7 is laid out

  • Coding sequence
  • Untranslated region
  • Intron
  • Direction of transcription
  • Known disease-causing sites
  • Stretches short reads find hard
Chromosome 1, with a bracket where PAX7 sits. PAX7 and 6 genes near it on chromosome 1, from 18,189,856 to 19,189,855.Chromosome 11p36.13p36.33p36.32p36.31p36.23p36.22p36.21p36.13p36.12p36.11p35.3p35.2p35.1p34.3p34.2p34.1p33p32.3p32.2p32.1p31.3p31.2p31.1p22.3p22.2p22.1p21.3p21.2p21.1p13.3p13.2p13.1p12p11.2p11.1q11q12q21.1q21.2q21.3q22q23.1q23.2q23.3q24.1q24.2q24.3q25.1q25.2q25.3q31.1q31.2q31.3q32.1q32.2q32.3q41q42.11q42.12q42.13q42.2q42.3q43q4418.2 Mb18.4 Mb18.6 Mb18.8 Mb19 MbIGSF21: 18,107,490–18,378,483, forward strandIGSF21KLHDC7A: 18,480,930–18,485,974, forward strandKLHDC7APAX7: 18,630,846–18,748,866, forward strandPAX7TAS1R2: 18,839,599–18,859,660, reverse strandTAS1R2ALDH4A1: 18,871,425–18,902,799, reverse strandALDH4A1IFFO2: 18,904,280–18,956,676, reverse strandIFFO2UBR4: 19,074,510–19,210,329, reverse strandUBR4Diagram of PAX7: 9 exons on the forward strand of chromosome 1Exon 2: 1 known disease-causing siteExon 5: 1 known disease-causing siteExon 1: 18,630,846–18,631,688, 843 basesExon 2: 18,634,303–18,634,538, 236 basesExon 3: 18,635,111–18,635,240, 130 basesExon 4: 18,636,237–18,636,371, 135 basesExon 5: 18,691,754–18,691,953, 200 basesExon 6: 18,700,653–18,700,818, 166 basesExon 7: 18,703,094–18,703,296, 203 basesExon 8: 18,735,632–18,735,878, 247 basesExon 9: 18,744,814–18,748,866, 4,053 bases1246895′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 6.2 kb of the gene's 118 kb; 1,518 of those bases code for the protein.

How a genome test reads PAX7

3

positions in PAX7 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 118 kb of PAX7, introns included, not only the 6.2 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.). PAX7 gene: paired box 7. Retrieved 16 October 2026, from https://dantelabs.com/genes/pax7

Vancouver

Dante Labs. PAX7 gene: paired box 7 [Internet]. [cited 16 October 2026]. Available from: https://dantelabs.com/genes/pax7

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