EDRF1

Chr 10

erythroid differentiation regulatory factor 1

Also known as: C10orf137

NCBI Gene: 26098 ENSG00000107938 UniProt: Q3B7T1 OMIM: 620463

EDRF1 encodes a transcription factor that regulates erythroid differentiation and globin gene expression by inhibiting DNA binding of GATA-1. Mutations cause erythropoietic protoporphyria with severe hemolytic anemia, an autosomal recessive disorder affecting red blood cell production and leading to significant anemia. The gene is highly constrained against loss-of-function variants (LOEUF 0.402), indicating that complete loss of function is likely deleterious.

OMIM ResearchSummary from RefSeq, UniProt

This gene may play a role in erythroid cell differentiation. The encoded protein inhibits DNA binding of the erythroid transcription factor GATA-1 and may regulate the expression of alpha-globin and gamma-globin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2014]

OMIM ResearchGenerating clinical summary…

LOEUF 0.40

Clinical Summary— EDRF1

⚡

Population Constraint (gnomAD)

Constrained for loss-of-function variants (OE-LoF 0.27) despite low pLI — interpret in context.

📋

ClinVar Variants

101 VUS of 110 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?

0.40LOEUF

pLI 0.004

Z-score 5.50

OE 0.27 (0.19–0.40)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

2.70Z-score

OE missense 0.70 (0.65–0.76)

452 obs / 645.1 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.27 (0.19–0.40)

0≤0.351.4

Missense OE?0.70 (0.65–0.76)

0≤0.61.4

Synonymous OE?1.00

0≤1.21.6

LoF obs/exp: 18 / 66.4Missense obs/exp: 452 / 645.1Syn Z: 0.03

ClinVar Variant Classifications

110 submitted variants in ClinVar

ClinVar

Classification Summary

VUS101

Likely Benign5

Benign4

101

VUS

Likely Benign

Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	LoF	Missense + Inframe	Synonymous	Total
Pathogenic	0	0	0	0
Likely Pathogenic	0	0	0	0
VUS	1	100	0	101
Likely Benign	0	4	1	5
Benign	0	0	4	4
Total	1	104	5	110

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

View in ClinVar →

66 pathogenic / likely-pathogenic (of 74) ClinVar copy-number / structural variants overlap EDRF1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →