IER5

Chr 1

immediate early response 5

Also known as: SBBI48

NCBI Gene: 51278 ENSG00000162783 UniProt: Q5VY09 OMIM: 607177

This gene encodes a protein that is similar to other immediate early response proteins. In the mouse, a similar gene may play an important role in mediating the cellular response to mitogenic signals. Studies in rats found the expression of a similar gene to be increased after waking and sleep deprivation. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

LOFmechanismLOEUF 0.45

Clinical Summary— IER5

⚡

Population Constraint (gnomAD)

Moderately constrained gene (pLI 0.87) — some intolerance to loss-of-function variants.

📋

ClinVar Variants

57 VUS of 60 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?

0.45LOEUF

pLI 0.869

Z-score 2.39

OE 0.00 (0.00–0.45)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

-0.00Z-score

OE missense 1.00 (0.88–1.14)

159 obs / 158.9 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?0.00 (0.00–0.45)

0≤0.351.4

Missense OE?1.00 (0.88–1.14)

0≤0.61.4

Synonymous OE?1.45

0≤1.21.6

LoF obs/exp: 0 / 6.6Missense obs/exp: 159 / 158.9Syn Z: -2.99

This gene — mechanism propensity

0.2499th %ile

GOF

0.3987th %ile

LOF

0.74top 10%

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

LOFprediction above median · LOEUF 0.45

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

60 submitted variants in ClinVar

ClinVar

Classification Summary

VUS57

Likely Benign3

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0
Likely Pathogenic	0	0	0
VUS	57	0	57
Likely Benign	2	1	3
Benign	0	0	0
Total	59	1	60

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

View in ClinVar →

28 pathogenic / likely-pathogenic (of 35) ClinVar copy-number / structural variants overlap IER5 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →