IER5L

Chr 9

immediate early response 5 like

Also known as: bA247A12.2

NCBI Gene: 389792ENSG00000188483UniProt: Q5T953

I cannot provide a clinical gene summary for IER5L based on the limited information provided. The data only includes predicted loss-of-function mechanism and constraint scores (pLI and LOEUF), but lacks essential clinical information such as the protein's specific function, associated diseases or phenotypes, inheritance patterns, and confirmed pathogenic variants in patients.

ResearchSummary from Mechanism
LOFmechanismLOEUF 0.72
Clinical Summary— IER5L
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.55) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
35 unique Pathogenic / Likely Pathogenic· 87 VUS of 125 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint
0.72LOEUF
pLI 0.554
Z-score 2.02
OE 0.15 (0.05–0.72)
Moderately constrained

Typical tolerance to LoF variation

Missense Constraint
0.57Z-score
OE missense 0.85 (0.73–1.00)
106 obs / 124.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.15 (0.05–0.72)
0≤0.351.4
Missense OE0.85 (0.73–1.00)
0≤0.61.4
Synonymous OE1.67
0≤1.21.6
LoF obs/exp: 1 / 6.6Missense obs/exp: 106 / 124.0Syn Z: -3.91
DN
0.3792th %ile
GOF
0.4776th %ile
LOF
0.71top 10%

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

LOFprediction above median

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

125 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic33
Likely Pathogenic2
VUS87
Likely Benign1
Benign2
33
Pathogenic
2
Likely Pathogenic
87
VUS
1
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
33
0
33
Likely Pathogenic
0
0
2
0
2
VUS
0
78
9
0
87
Likely Benign
0
1
0
0
1
Benign
0
0
0
2
2
Total079442125

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

View in ClinVar →

Protein Context — Lollipop Plot

IER5L · 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 3 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