EOLA2

endothelium and lymphocyte associated ASCH domain 2

Basic information

Region (hg38): X:149929527-149938700

Previous symbols: [ "CXorf40B" ]

Links

ENSG00000197021NCBI:541578HGNC:17402Uniprot:Q96DE9AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the EOLA2 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the EOLA2 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
3
clinvar
3
missense
1
clinvar
1
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 1 3 0

Variants in EOLA2

This is a list of pathogenic ClinVar variants found in the EOLA2 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-149929950-C-T Likely benign (Nov 01, 2022)2661623
X-149931042-C-T Likely benign (Dec 01, 2022)2661624
X-149932622-G-A Likely benign (Dec 01, 2022)2661625
X-149932625-C-T Likely benign (Jun 01, 2022)2661626
X-149932706-C-T Likely benign (Jan 01, 2023)2661627
X-149933793-G-A not specified Conflicting classifications of pathogenicity (Nov 01, 2022)2661628
X-149933852-A-G not specified Uncertain significance (Sep 15, 2021)3089264

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
EOLA2protein_codingprotein_codingENST00000370406 29285
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.02440.5681254887261255210.000131
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.6398166.31.220.000005551008
Missense in Polyphen2117.0781.2297293
Synonymous-0.5433127.41.130.00000228327
Loss of Function-0.031521.951.021.23e-734

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0006730.000629
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.0001250.0000924
European (Non-Finnish)0.0001470.000106
Middle Eastern0.000.00
South Asian0.00005270.0000327
Other0.0006790.000490

dbNSFP

Source: dbNSFP

Intolerance Scores

loftool
0.504
rvis_EVS
0.75
rvis_percentile_EVS
86.48

Haploinsufficiency Scores

pHI
hipred
N
hipred_score
0.164
ghis
0.514

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
essential_gene_gene_trap
N
gene_indispensability_pred
gene_indispensability_score

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
1110012L19Rik
Phenotype