EID1

EP300 interacting inhibitor of differentiation 1

Basic information

Region (hg38): 15:48878134-48880173

Previous symbols: [ "C15orf3", "CRI1" ]

Links

ENSG00000255302 ∙ NCBI:23741 ∙ OMIM:605894 ∙ HGNC:1191 ∙ Uniprot:Q9Y6B2 ∙ 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 EID1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EID1 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			11	1		12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	1	0

Variants in EID1

This is a list of pathogenic ClinVar variants found in the EID1 region.

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

Position	Type	Phenotype	Significance	ClinVar
15-48878187-T-C		not specified	Uncertain significance (Jun 26, 2023)
15-48878213-G-C		not specified	Uncertain significance (Feb 06, 2024)
15-48878225-C-G		not specified	Uncertain significance (Jan 17, 2024)
15-48878241-T-C		not specified	Uncertain significance (Dec 16, 2022)
15-48878325-A-C		not specified	Likely benign (Oct 03, 2022)
15-48878328-A-G		not specified	Uncertain significance (Oct 25, 2022)
15-48878346-C-G		not specified	Uncertain significance (Oct 06, 2021)
15-48878360-G-A		not specified	Uncertain significance (Nov 09, 2022)
15-48878370-C-T		not specified	Uncertain significance (Mar 01, 2023)
15-48878374-G-A		not specified	Uncertain significance (Jun 07, 2024)
15-48878393-C-T		not specified	Uncertain significance (Jan 23, 2024)
15-48878416-C-A		not specified	Uncertain significance (Nov 01, 2021)
15-48878691-A-G		not specified	Uncertain significance (Feb 22, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EID1	protein_coding	protein_coding	ENST00000530028	1	2298

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.427	0.543	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.139	112	108	1.04	0.00000480	1243
Missense in Polyphen		29	33.72	0.86002		413
Synonymous	-0.337	46	43.2	1.07	0.00000202	346
Loss of Function	1.74	1	5.32	0.188	2.28e-7	63

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Interacts with RB1 and EP300 and acts as a repressor of MYOD1 transactivation. Inhibits EP300 and CBP histone acetyltransferase activity. May be involved in coupling cell cycle exit to the transcriptional activation of genes required for cellular differentiation. May act as a candidate coinhibitory factor for NR0B2 that can be directly linked to transcription inhibitory mechanisms. {ECO:0000269|PubMed:11073989, ECO:0000269|PubMed:11073990}.

Intolerance Scores

• loftool: 0.419
• rvis_EVS: -0.08
• rvis_percentile_EVS: 47.79

Haploinsufficiency Scores

• pHI: 0.0701
• hipred: N
• hipred_score: 0.172
• ghis: 0.438

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.781

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Eid1

Gene ontology

• Biological process: negative regulation of transcription by RNA polymerase II;cell cycle;cell differentiation;regulation of histone acetylation;regulation of cell differentiation;negative regulation of transcription, DNA-templated
• Cellular component: nucleus;nucleoplasm;cytoplasmic ribonucleoprotein granule
• Molecular function: transcription corepressor activity;protein binding;histone acetyltransferase regulator activity;histone acetyltransferase binding