EID2B

EP300 interacting inhibitor of differentiation 2B

Basic information

Region (hg38): 19:39530986-39532852

Links

ENSG00000176401 ∙ NCBI:126272 ∙ OMIM:617355 ∙ HGNC:26796 ∙ Uniprot:Q96D98 ∙ 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 EID2B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EID2B gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			10			10
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	10	0	0

Variants in EID2B

This is a list of pathogenic ClinVar variants found in the EID2B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-39532376-C-A		not specified	Uncertain significance (Dec 18, 2023)
19-39532388-T-C		not specified	Uncertain significance (Dec 08, 2023)
19-39532411-G-A		not specified	Uncertain significance (Feb 17, 2022)
19-39532447-C-T		not specified	Uncertain significance (Nov 13, 2023)
19-39532484-G-A		not specified	Uncertain significance (Mar 19, 2024)
19-39532486-A-T		not specified	Uncertain significance (Jun 21, 2021)
19-39532552-T-C		not specified	Uncertain significance (Nov 18, 2022)
19-39532609-G-A		not specified	Uncertain significance (Jun 17, 2024)
19-39532669-G-A		not specified	Uncertain significance (Oct 10, 2023)
19-39532670-C-T		not specified	Uncertain significance (Jul 12, 2023)
19-39532774-A-G		not specified	Uncertain significance (Sep 22, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EID2B	protein_coding	protein_coding	ENST00000326282	1	1865

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.125	104	100	1.04	0.00000451	1025
Missense in Polyphen		26	20.612	1.2614		180
Synonymous	1.15	38	48.1	0.790	0.00000221	370
Loss of Function

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish
East Asian
Finnish
European (Non-Finnish)
Middle Eastern
South Asian
Other

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a repressor of MYOD-dependent transcription, glucocorticoid receptor-dependent transcription, and muscle differentiation. {ECO:0000269|PubMed:15970276}.

Recessive Scores

• pRec: 0.0860

Intolerance Scores

• loftool: 0.420
• rvis_EVS: 0.19
• rvis_percentile_EVS: 66.57

Haploinsufficiency Scores

• pHI: 0.0650
• hipred: N
• hipred_score: 0.139
• ghis: 0.531

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.534

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Eid2b

Gene ontology

• Biological process: muscle organ development;cell differentiation;negative regulation of myoblast differentiation;negative regulation of transcription, DNA-templated
• Cellular component: nucleus
• Molecular function: protein binding;identical protein binding