MAGOH

Chr 1

mago homolog, exon junction complex subunit

Also known as: MAGOH1, MAGOHA

NCBI Gene: 4116 ENSG00000162385 UniProt: P61326 OMIM: 602603

The protein is a core component of the exon junction complex that is required for pre-mRNA splicing, mRNA export, and nonsense-mediated decay pathways. Mutations cause microcephaly with simplified gyral pattern, intellectual disability, and seizures, following an autosomal recessive inheritance pattern. The gene is highly constrained against loss-of-function variants, indicating intolerance to protein-disrupting mutations.

OMIM ResearchSummary from RefSeq, UniProt

Drosophila that have mutations in their mago nashi (grandchildless) gene produce progeny with defects in germplasm assembly and germline development. This gene encodes the mammalian mago nashi homolog. In mammals, mRNA expression is not limited to the germ plasm, but is expressed ubiquitously in adult tissues and can be induced by serum stimulation of quiescent fibroblasts. [provided by RefSeq, Jul 2008]

OMIM ResearchGenerating clinical summary…

LOEUF 0.49

Clinical Summary— MAGOH

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Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.80) — some intolerance to loss-of-function variants.

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ClinVar Variants

5 VUS of 18 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.49LOEUF

pLI 0.797

Z-score 2.58

OE 0.10 (0.04–0.49)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

2.57Z-score

OE missense 0.19 (0.13–0.29)

15 obs / 79.4 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.10 (0.04–0.49)

0≤0.351.4

Missense OE?0.19 (0.13–0.29)

0≤0.61.4

Synonymous OE?0.70

0≤1.21.6

LoF obs/exp: 1 / 9.6Missense obs/exp: 15 / 79.4Syn Z: 1.27

ClinVar Variant Classifications

18 submitted variants in ClinVar

ClinVar

Classification Summary

VUS5

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	5	5
Likely Benign	0	0
Benign	0	0
Total	5	5

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

10 pathogenic / likely-pathogenic (of 14) ClinVar copy-number / structural variants overlap MAGOH — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →