EOLA1

endothelium and lymphocyte associated ASCH domain 1

Basic information

Region (hg38): X:149540355-149550510

Previous symbols: [ "CXorf40", "CXorf40A" ]

Links

ENSG00000197620 ∙ NCBI:91966 ∙ OMIM:300954 ∙ HGNC:28089 ∙ Uniprot:Q8TE69 ∙ 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 EOLA1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EOLA1 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			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1		1
non coding						0
Total	0	0	2	0	0

Variants in EOLA1

This is a list of pathogenic ClinVar variants found in the EOLA1 region.

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

Position	Type	Phenotype	Significance	ClinVar
X-149545740-G-A		not specified	Uncertain significance (Sep 01, 2021)
X-149546731-G-C			Likely benign (Apr 01, 2023)
X-149546949-G-A		not specified	Uncertain significance (Sep 09, 2021)
X-149548464-G-A			Likely benign (Jun 01, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
EOLA1	protein_coding	protein_coding	ENST00000441248	2	10156

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.590	0.373	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.447	52	61.9	0.840	0.00000509	1011
Missense in Polyphen		11	18.835	0.58402		332
Synonymous	-0.472	29	25.9	1.12	0.00000212	327
Loss of Function	1.54	0	2.78	0.00	2.16e-7	45

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: May have an important role of cell protection in inflammation reaction.

Recessive Scores

• pRec: 0.0731

Intolerance Scores

• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.76

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.218
• ghis: 0.509

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: 1110012L19Rik

Gene ontology

• Molecular function: protein binding