EOLA2
Basic information
Region (hg38): X:149929527-149938700
Previous symbols: [ "CXorf40B" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
missense | 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) | |||
X-149931042-C-T | Likely benign (Dec 01, 2022) | |||
X-149932622-G-A | Likely benign (Dec 01, 2022) | |||
X-149932625-C-T | Likely benign (Jun 01, 2022) | |||
X-149932706-C-T | Likely benign (Jan 01, 2023) | |||
X-149933793-G-A | not specified | Conflicting classifications of pathogenicity (Nov 01, 2022) | ||
X-149933852-A-G | not specified | Uncertain significance (Sep 15, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
EOLA2 | protein_coding | protein_coding | ENST00000370406 | 2 | 9285 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0244 | 0.568 | 125488 | 7 | 26 | 125521 | 0.000131 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.639 | 81 | 66.3 | 1.22 | 0.00000555 | 1008 |
Missense in Polyphen | 21 | 17.078 | 1.2297 | 293 | ||
Synonymous | -0.543 | 31 | 27.4 | 1.13 | 0.00000228 | 327 |
Loss of Function | -0.0315 | 2 | 1.95 | 1.02 | 1.23e-7 | 34 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000673 | 0.000629 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.00 | 0.00 |
Finnish | 0.000125 | 0.0000924 |
European (Non-Finnish) | 0.000147 | 0.000106 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000527 | 0.0000327 |
Other | 0.000679 | 0.000490 |
dbNSFP
Source:
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
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- 1110012L19Rik
- Phenotype