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Gene

MCPH1

microcephalin 1

Summary

Cytogenetic location
8p23.1
Coordinates
Chromosome 8: 6,406,627–6,648,508 (GRCh38)
Exons
14 exons across 241.9 kb
Protein
835 amino acids
Also known as
FLJ12847, BRIT1
MANE Select transcript
ENST00000344683.10NM_024596.5
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 MCPH1 yet. The test sequences your whole genome, so your data includes it all the same.

How MCPH1 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 MCPH1 sits. MCPH1 and 9 genes near it on chromosome 8, from 6,027,568 to 7,027,567.Chromosome 88p23.1p23.3p23.2p23.1p22p21.3p21.2p21.1p12p11.23p11.22p11.21p11.1q11.1q11.21q11.22q11.23q12.1q12.2q12.3q13.1q13.2q13.3q21.11q21.12q21.13q21.2q21.3q22.1q22.2q22.3q23.1q23.2q23.3q24.11q24.12q24.13q24.21q24.22q24.23q24.36.2 Mb6.4 Mb6.6 Mb6.8 Mb7 MbMCPH1: 6,406,627–6,648,508, forward strandMCPH1ANGPT2: 6,499,632–6,563,436, reverse strandANGPT2AGPAT5: 6,708,334–6,761,604, forward strandAGPAT5XKR5: 6,805,013–6,835,536, reverse strandXKR5DEFB1: 6,870,592–6,877,943, reverse strandDEFB1DEFA6: 6,924,697–6,926,076, reverse strandDEFA6DEFA4: 6,935,820–6,938,313, reverse strandDEFA4DEFA1: 6,977,649–6,980,094, reverse strandDEFA1DEFA1B: 6,996,766–6,999,206, reverse strandDEFA1BDEFA3: 7,015,868–7,018,359, reverse strandDEFA3Diagram of MCPH1: 14 exons on the forward strand of chromosome 8Exon 2: 4 known disease-causing sitesExon 3: 8 known disease-causing sitesExon 4: 6 known disease-causing sitesExon 5: 4 known disease-causing sitesExon 6: 5 known disease-causing sitesExon 7: 3 known disease-causing sitesExon 8: 24 known disease-causing sitesExon 9: 4 known disease-causing sitesExon 10: 1 known disease-causing siteExon 11: 7 known disease-causing sitesExon 12: 2 known disease-causing sitesExon 13: 7 known disease-causing sitesExon 1: 6,406,627–6,406,689, 63 basesExon 2: 6,409,279–6,409,370, 92 basesExon 3: 6,414,765–6,414,883, 119 basesExon 4: 6,431,499–6,431,586, 88 basesExon 5: 6,436,048–6,436,162, 115 basesExon 6: 6,438,953–6,439,096, 144 basesExon 7: 6,442,067–6,442,156, 90 basesExon 8: 6,444,393–6,445,547, 1,155 basesExon 9: 6,455,143–6,455,252, 110 basesExon 10: 6,477,594–6,477,631, 38 basesExon 11: 6,480,714–6,480,876, 163 basesExon 12: 6,499,852–6,499,929, 78 basesExon 13: 6,621,454–6,621,691, 238 basesExon 14: 6,642,994–6,648,508, 5,515 bases1510145′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 8 kb of the gene's 241.9 kb; 2,508 of those bases code for the protein.

How a genome test reads MCPH1

91

positions in MCPH1 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 241.9 kb of MCPH1, introns included, not only the 8 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.). MCPH1 gene: microcephalin 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/mcph1

Vancouver

Dante Labs. MCPH1 gene: microcephalin 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/mcph1

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