EI24

EI24 autophagy associated transmembrane protein

Basic information

Region (hg38): 11:125569279-125584684

Links

ENSG00000149547 ∙ NCBI:9538 ∙ OMIM:605170 ∙ HGNC:13276 ∙ Uniprot:O14681 ∙ 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 EI24 gene.

• Inborn genetic diseases (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EI24 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in EI24

This is a list of pathogenic ClinVar variants found in the EI24 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-125572568-G-A		not specified	Uncertain significance (Aug 20, 2023)
11-125577510-C-T		not specified	Uncertain significance (Nov 10, 2022)
11-125578163-C-T		not specified	Uncertain significance (Jun 27, 2023)
11-125578234-G-A		not specified	Uncertain significance (Dec 19, 2022)
11-125578973-G-A		not specified	Uncertain significance (Jan 20, 2023)
11-125579006-G-A		not specified	Uncertain significance (Dec 28, 2022)
11-125580144-C-T		not specified	Uncertain significance (Sep 20, 2023)
11-125581279-C-T		Intellectual disability	Likely pathogenic (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EI24	protein_coding	protein_coding	ENST00000278903	11	15464

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.733	0.267	124628	0	10	124638	0.0000401

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.00	105	181	0.582	0.00000965	2209
Missense in Polyphen		18	44.611	0.40349		608
Synonymous	2.20	42	64.5	0.651	0.00000339	637
Loss of Function	3.54	4	21.9	0.183	0.00000123	234

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000123	0.000123
Ashkenazi Jewish	0.0000994	0.0000994
East Asian	0.000167	0.000167
Finnish	0.00	0.00
European (Non-Finnish)	0.0000266	0.0000265
Middle Eastern	0.000167	0.000167
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Acts as a negative growth regulator via p53-mediated apoptosis pathway. Regulates formation of degradative autolysosomes during autophagy (By similarity). {ECO:0000250}.
• Disease: DISEASE: Note=EI24 is on a chromosomal region frequently deleted in solid tumors, and it is thought to play a role in breast and cervical cancer. Particularly, expression analysis of EI24 in cancerous tissues shows that EI24 loss is associated with tumor invasiveness.
• Pathway: p53 signaling pathway - Homo sapiens (human);miRNA regulation of p53 pathway in prostate cancer (Consensus)

Recessive Scores

• pRec: 0.105

Haploinsufficiency Scores

• pHI: 0.741
• hipred: Y
• hipred_score: 0.654

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.349

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ei24
• Phenotype: growth/size/body region phenotype; cellular phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype

Gene ontology

• Biological process: apoptotic process;macroautophagy;negative regulation of cell growth
• Cellular component: endoplasmic reticulum;endoplasmic reticulum membrane;Golgi apparatus;cytosol;membrane;integral component of membrane;nuclear membrane