EDRF1

erythroid differentiation regulatory factor 1

Basic information

Region (hg38): 10:125719515-125764143

Previous symbols: [ "C10orf137" ]

Links

ENSG00000107938 ∙ NCBI:26098 ∙ ∙ HGNC:24640 ∙ Uniprot:Q3B7T1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	4	5
missense			91	2		93
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	92	3	4

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EDRF1	protein_coding	protein_coding	ENST00000356792	25	44629

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00437	0.996	125714	0	34	125748	0.000135

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.70	452	645	0.701	0.0000339	8176
Missense in Polyphen		88	181.01	0.48617		2372
Synonymous	0.0326	245	246	0.997	0.0000145	2273
Loss of Function	5.50	18	66.4	0.271	0.00000354	823

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000330	0.000329
Ashkenazi Jewish	0.0000992	0.0000992
East Asian	0.0000544	0.0000544
Finnish	0.0000463	0.0000462
European (Non-Finnish)	0.000161	0.000158
Middle Eastern	0.0000544	0.0000544
South Asian	0.000131	0.000131
Other	0.000163	0.000163

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

• 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_gene_trap: N

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Edrf1

Gene ontology

• Biological process: positive regulation of transcription, DNA-templated
• Cellular component: cellular_component;nucleus