BTG1
Basic information
Region (hg38): 12:92140278-92145846
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 BTG1 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 | 6 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 6 | 0 | 0 |
Variants in BTG1
This is a list of pathogenic ClinVar variants found in the BTG1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 12-92144118-G-A | not specified | Uncertain significance (Dec 15, 2023) | ||
| 12-92144126-C-T | not specified | Uncertain significance (Nov 29, 2023) | ||
| 12-92144199-T-C | not specified | Uncertain significance (Jan 04, 2022) | ||
| 12-92145403-G-A | Neoplasm | - (-) | ||
| 12-92145428-C-T | EBV-positive nodal T- and NK-cell lymphoma | Likely benign (-) | ||
| 12-92145484-C-A | not specified | Uncertain significance (Aug 21, 2023) | ||
| 12-92145500-T-C | not specified | Uncertain significance (Jan 26, 2022) | ||
| 12-92145520-T-G | not specified | Uncertain significance (Aug 21, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| BTG1 | protein_coding | protein_coding | ENST00000256015 | 2 | 3388 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.536 | 0.450 | 115096 | 0 | 4 | 115100 | 0.0000174 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.36 | 56 | 92.8 | 0.603 | 0.00000406 | 1101 |
| Missense in Polyphen | 7 | 27.603 | 0.25359 | 339 | ||
| Synonymous | -1.76 | 50 | 36.5 | 1.37 | 0.00000161 | 330 |
| Loss of Function | 1.98 | 1 | 6.43 | 0.156 | 2.76e-7 | 72 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000713 | 0.0000661 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000204 | 0.0000190 |
| Middle Eastern | 0.0000713 | 0.0000661 |
| South Asian | 0.0000352 | 0.0000350 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Anti-proliferative protein. {ECO:0000269|PubMed:1373383}.;
- Disease
- DISEASE: Note=A chromosomal aberration involving BTG1 may be a cause of a form of B-cell chronic lymphocytic leukemia. Translocation t(8;12)(q24;q22) with MYC. {ECO:0000269|PubMed:2069907}.;
- Pathway
- RNA degradation - Homo sapiens (human);Exercise-induced Circadian Regulation;btg family proteins and cell cycle regulation
(Consensus)
Recessive Scores
- pRec
- 0.212
Intolerance Scores
- loftool
- 0.295
- rvis_EVS
- 0.13
- rvis_percentile_EVS
- 62.74
Haploinsufficiency Scores
- pHI
- 0.729
- hipred
- Y
- hipred_score
- 0.509
- ghis
- 0.450
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.914
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Btg1
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); cellular phenotype;
Gene ontology
- Biological process
- regulation of transcription, DNA-templated;response to oxidative stress;spermatogenesis;negative regulation of cell population proliferation;cell migration;negative regulation of cell growth;response to peptide hormone;positive regulation of endothelial cell differentiation;positive regulation of myoblast differentiation;positive regulation of angiogenesis;negative regulation of mitotic cell cycle;positive regulation of fibroblast apoptotic process
- Cellular component
- nucleus;cytoplasm
- Molecular function
- transcription coregulator activity;protein binding;enzyme binding;kinase binding