EML1

Chr 14AR

EMAP like 1

Also known as: BH, ELP79, EMAP, EMAP-1, EMAPL

NCBI Gene: 2009ENSG00000066629UniProt: O00423OMIM: 602033

The EML1 protein modulates microtubule cytoskeleton assembly and organization, regulates mitotic spindle orientation, and is required for normal neuronal progenitor cell proliferation during brain development. Mutations cause band heterotopia (a neuronal migration disorder) with autosomal recessive inheritance. This gene is highly constrained against loss-of-function variants, indicating its critical role in normal development.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 0.281 OMIM phenotype
Clinical Summary— EML1
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Gene-Disease Validity (ClinGen)
band heterotopia of brain · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

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Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
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ClinVar Variants
40 unique Pathogenic / Likely Pathogenic· 110 VUS of 288 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.28LOEUF
pLI 0.996
Z-score 5.63
OE 0.15 (0.09–0.28)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
2.45Z-score
OE missense 0.68 (0.62–0.75)
326 obs / 476.6 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios
LoF OE0.15 (0.09–0.28)
0≤0.351.4
Missense OE0.68 (0.62–0.75)
0≤0.61.4
Synonymous OE0.93
0≤1.21.6
LoF obs/exp: 8 / 51.6Missense obs/exp: 326 / 476.6Syn Z: 0.74
DN
0.4487th %ile
GOF
0.4085th %ile
LOF
0.68top 25%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · 20% of P/LP variants are LoF · LOEUF 0.28

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

288 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic36
Likely Pathogenic4
VUS110
Likely Benign76
Benign52
36
Pathogenic
4
Likely Pathogenic
110
VUS
76
Likely Benign
52
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
6
1
29
0
36
Likely Pathogenic
2
1
1
0
4
VUS
1
99
9
1
110
Likely Benign
0
2
26
48
76
Benign
0
3
40
9
52
Total910610558278

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

View in ClinVar →

Protein Context — Lollipop Plot

EML1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 4 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients