EBAG9
Basic information
Region (hg38): 8:109539711-109570072
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 EBAG9 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 | |||||
| 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 | 5 | 0 | 0 |
Variants in EBAG9
This is a list of pathogenic ClinVar variants found in the EBAG9 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 8-109550835-C-T | not specified | Uncertain significance (Apr 08, 2024) | ||
| 8-109553878-C-T | not specified | Uncertain significance (Apr 11, 2023) | ||
| 8-109553948-G-T | Benign (Apr 30, 2018) | |||
| 8-109554733-A-C | not specified | Uncertain significance (Mar 28, 2024) | ||
| 8-109554786-G-A | not specified | Uncertain significance (May 28, 2024) | ||
| 8-109556954-A-G | not specified | Uncertain significance (Apr 16, 2024) | ||
| 8-109556979-T-G | not specified | Uncertain significance (Jul 14, 2023) | ||
| 8-109557013-A-G | not specified | Uncertain significance (Oct 25, 2023) | ||
| 8-109557014-C-T | not specified | Uncertain significance (Mar 31, 2024) | ||
| 8-109564476-G-A | not specified | Uncertain significance (Apr 24, 2024) | ||
| 8-109564479-C-G | not specified | Uncertain significance (Jul 25, 2023) | ||
| 8-109564525-A-G | not specified | Uncertain significance (Mar 07, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| EBAG9 | protein_coding | protein_coding | ENST00000337573 | 6 | 26286 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0771 | 0.913 | 125697 | 0 | 6 | 125703 | 0.0000239 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.969 | 76 | 104 | 0.732 | 0.00000496 | 1388 |
| Missense in Polyphen | 21 | 31.847 | 0.65941 | 425 | ||
| Synonymous | -0.348 | 39 | 36.3 | 1.07 | 0.00000171 | 378 |
| Loss of Function | 2.24 | 4 | 12.6 | 0.318 | 5.32e-7 | 158 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000110 | 0.000109 |
| Finnish | 0.0000463 | 0.0000462 |
| European (Non-Finnish) | 0.0000270 | 0.0000264 |
| Middle Eastern | 0.000110 | 0.000109 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May participate in suppression of cell proliferation and induces apoptotic cell death through activation of interleukin-1- beta converting enzyme (ICE)-like proteases. {ECO:0000269|PubMed:12054692, ECO:0000269|PubMed:12138241, ECO:0000269|PubMed:12672804}.;
- Pathway
- Estrogen signaling pathway - Homo sapiens (human);Signal Transduction;Signaling by Nuclear Receptors;Estrogen-dependent gene expression;ESR-mediated signaling;Validated nuclear estrogen receptor alpha network
(Consensus)
Recessive Scores
- pRec
- 0.136
Intolerance Scores
- loftool
- 0.286
- rvis_EVS
- -0.1
- rvis_percentile_EVS
- 46.2
Haploinsufficiency Scores
- pHI
- 0.213
- hipred
- Y
- hipred_score
- 0.595
- ghis
- 0.642
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.330
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ebag9
- Phenotype
- immune system phenotype; hematopoietic system phenotype;
Gene ontology
- Biological process
- regulation of cell growth;apoptotic process
- Cellular component
- Golgi membrane;integral component of membrane;secretory granule
- Molecular function
- peptidase activator activity involved in apoptotic process