BZW2
Basic information
Region (hg38): 7:16646130-16706523
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 BZW2 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 | 1 | |||||
| missense | 13 | 13 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 13 | 1 | 0 |
Variants in BZW2
This is a list of pathogenic ClinVar variants found in the BZW2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-16665481-G-A | not specified | Uncertain significance (Jun 22, 2021) | ||
| 7-16674557-C-T | Likely benign (Jun 01, 2020) | |||
| 7-16681349-A-G | not specified | Uncertain significance (Aug 02, 2023) | ||
| 7-16681376-A-G | not specified | Uncertain significance (Apr 15, 2024) | ||
| 7-16682820-A-G | not specified | Uncertain significance (Feb 14, 2024) | ||
| 7-16685909-T-C | not specified | Uncertain significance (Aug 19, 2023) | ||
| 7-16685934-A-C | not specified | Uncertain significance (Mar 07, 2024) | ||
| 7-16685987-C-T | not specified | Uncertain significance (Mar 19, 2024) | ||
| 7-16685995-G-A | not specified | Uncertain significance (Feb 23, 2023) | ||
| 7-16694846-G-A | not specified | Uncertain significance (Dec 27, 2023) | ||
| 7-16694850-A-T | not specified | Uncertain significance (Feb 10, 2022) | ||
| 7-16694930-C-A | not specified | Uncertain significance (Apr 15, 2024) | ||
| 7-16694971-G-T | not specified | Uncertain significance (Jan 23, 2024) | ||
| 7-16694985-A-G | not specified | Uncertain significance (Jan 24, 2024) | ||
| 7-16696952-A-T | not specified | Uncertain significance (Jan 16, 2024) | ||
| 7-16696997-T-C | not specified | Uncertain significance (Jun 29, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| BZW2 | protein_coding | protein_coding | ENST00000433922 | 11 | 60393 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.105 | 0.895 | 125715 | 0 | 27 | 125742 | 0.000107 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.95 | 143 | 226 | 0.634 | 0.0000120 | 2771 |
| Missense in Polyphen | 33 | 70.447 | 0.46844 | 960 | ||
| Synonymous | -1.29 | 104 | 88.6 | 1.17 | 0.00000532 | 764 |
| Loss of Function | 3.20 | 6 | 22.3 | 0.269 | 0.00000111 | 278 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000259 | 0.000227 |
| Ashkenazi Jewish | 0.000471 | 0.000298 |
| East Asian | 0.000176 | 0.000163 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000190 | 0.000149 |
| Middle Eastern | 0.000176 | 0.000163 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: May be involved in neuronal differentiation. {ECO:0000250}.;
Recessive Scores
- pRec
- 0.124
Intolerance Scores
- loftool
- 0.184
- rvis_EVS
- -0.4
- rvis_percentile_EVS
- 26.53
Haploinsufficiency Scores
- pHI
- 0.219
- hipred
- Y
- hipred_score
- 0.662
- ghis
- 0.570
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.957
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Bzw2
- Phenotype
- homeostasis/metabolism phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan);
Gene ontology
- Biological process
- nervous system development;cell differentiation
- Cellular component
- cytoplasm;membrane
- Molecular function
- protein binding;cadherin binding