EDRF1

erythroid differentiation regulatory factor 1

Basic information

Region (hg38): 10:125719515-125764143

Previous symbols: [ "C10orf137" ]

Links

ENSG00000107938NCBI:26098HGNC:24640Uniprot:Q3B7T1AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EDRF1 gene.

  • not_specified (93 variants)
  • not_provided (5 variants)
  • See_cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EDRF1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001202438.2. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
4
clinvar
5
missense
91
clinvar
2
clinvar
93
nonsense
1
clinvar
1
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 92 3 4
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
EDRF1protein_codingprotein_codingENST00000356792 2544629
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.004370.9961257140341257480.000135
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.704526450.7010.00003398176
Missense in Polyphen88181.010.486172372
Synonymous0.03262452460.9970.00001452273
Loss of Function5.501866.40.2710.00000354823

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003300.000329
Ashkenazi Jewish0.00009920.0000992
East Asian0.00005440.0000544
Finnish0.00004630.0000462
European (Non-Finnish)0.0001610.000158
Middle Eastern0.00005440.0000544
South Asian0.0001310.000131
Other0.0001630.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Transcription factor involved in erythroid differentiation. Involved in transcriptional activation of the globin gene. {ECO:0000269|PubMed:12609092}.;

Recessive Scores

pRec
0.109

Intolerance Scores

loftool
rvis_EVS
-0.77
rvis_percentile_EVS
13.15

Haploinsufficiency Scores

pHI
0.355
hipred
Y
hipred_score
0.614
ghis
0.625

Essentials

essential_gene_CRISPR
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Edrf1
Phenotype

Gene ontology

Biological process
positive regulation of transcription, DNA-templated
Cellular component
cellular_component;nucleus
Molecular function