RERE

Chr 1

arginine-glutamic acid dipeptide repeats

Also known as: ARG, ARP, ATN1L, DNB1, NEDBEH

NCBI Gene: 473ENSG00000142599UniProt: Q9P2R6

This gene encodes a member of the atrophin family of arginine-glutamic acid (RE) dipeptide repeat-containing proteins. The encoded protein co-localizes with a transcription factor in the nucleus, and its overexpression triggers apoptosis. A similar protein in mouse associates with histone deacetylase and is thought to function as a transcriptional co-repressor during embryonic development. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtNeurodevelopmental disorder with or without anomalies of the brain, eye, or heart

Clinical highlights

Gene-disease validity (ClinGen)
complex neurodevelopmental disorder with or without congenital anomalies · ADDefinitivesufficient evidence for diagnostic panels
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
30
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.12
LOEUF· LoF intol.
LOF
Mechanism· G2P
📖
GeneReview available — RERE
Authoritative clinical overview · Recommended first read
Open GeneReview ↗
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.12LOEUF
pLI 1.000
Z-score 7.11
OE 0.05 (0.02–0.12)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
2.03Z-score
OE missense 0.81 (0.76–0.86)
737 obs / 909.5 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.05 (0.02–0.12)
0≤0.351.4
Missense OE?0.81 (0.76–0.86)
0≤0.61.4
Synonymous OE?1.18
0≤1.21.6
LoF obs/exp: 3 / 64.7Missense obs/exp: 737 / 909.5Syn Z: -2.83

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RERE · protein map & ClinVar variants

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

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