BTG1
protein-codingBTG anti-proliferation factor 1, the group of BTG/Tob family
Gene summary
This gene is a member of an anti-proliferative gene family that regulates cell growth and differentiation. Expression of this gene is highest in the G0/G1 phases of the cell cycle and downregulated when cells progressed through G1. The encoded protein interacts with several nuclear receptors, and functions as a coactivator of cell differentiation. This locus has been shown to be involved in a t(8;12)(q24;q22) chromosomal translocation in a case of B-cell chronic lymphocytic leukemia. [provided by RefSeq, Oct 2008]
MANE transcript
Inheritance
ClinVar variants
Top phenotype
gnomAD constraint
Max pathogenic AF
Genomic locus
External References & Databases
Transcript & Mutation Effects
hg38 • Region Span ~5.6 kbGenCC Phenotypes & Disease Associations
Curated gene-disease validity assertions and inheritance patterns
No GenCC data available for this gene.
ClinVar Associated Diseases & Phenotypes
Reported disease conditions connected to BTG1 variants in ClinVar
ClinVar Variants & Pathogenicity by Type
Statistics based on transcript NM_001731.3. Only rare variants are included.
We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.
Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.
| Effect | PathogenicP | Likely pathogenicLP | VUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 1 | 1 | ||||
| missense | 15 | 15 | ||||
| nonsense | 1 | 1 | ||||
| start loss | 0 | |||||
| frameshift | 1 | 1 | ||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 17 | 1 | 0 | 18 |
Transcript Catalog
Annotated transcript isoforms across RefSeq and Ensembl databases
| Transcript ID | Source | Protein ID | Coding Exons | MANE Status |
|---|---|---|---|---|
| RefSeq | NP_001722.1 | 2 | MANE Select | |
| Ensembl | ENSP00000256015.3 | 2 | MANE Select | |
| Ensembl | ENSP00000769154.1 | 2 | Standard | |
| Ensembl | ENSP00000788388.1 | 2 | Standard |
Gene Ontology (GO) Annotations & Pathways
Biological processes, molecular functions, cellular components and pathways
Pathways ConsensusPathDB
- RNA degradation - Homo sapiens (human)
- Exercise-induced Circadian Regulation
- btg family proteins and cell cycle regulation
Biological Process
- regulation of transcription, DNA-templated
- response to oxidative stress
- spermatogenesis
- negative regulation of cell population proliferation
- cell migration
Molecular Function
- transcription coregulator activity
- protein binding
- enzyme binding
- kinase binding
Cellular Component
- nucleus
- cytoplasm
gnomAD Constraint
Source:
- Gene type
- protein_coding
- Transcript type
- protein_coding
- Transcript
- ENST00000256015
- Coding exons
- 2
- Length
- 3388
- Individuals with no LoFs
- 115096
- Homozygous LoFs
- 0
- Heterozygous LoFs
- 4
- Defined
- 115100
- p
- 0.0000174
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible | |
|---|---|---|---|---|---|---|
| Missense | 1.36 | 56 | 92.8 | 0.603 | 0.00000406 | 1101 |
| Missense (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 |
Population LoF Frequency
| Population | CAF | p-value | Status |
|---|---|---|---|
| African | 0 | 0.0 | absent |
| Latino/Admixed American | 0 | 0.0 | absent |
| Ashkenazi Jewish | 0 | 0.0 | absent |
| East Asian | 0.000071 | 0.000066 | rare |
| Finnish | 0 | 0.0 | absent |
| European (Non-Finnish) | 0.000020 | 0.000019 | rare |
| South Asian | 0.000035 | 0.000035 | rare |
| Other | 0 | 0.0 | absent |
dbNSFP Gene Annotations
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}.;
Recessive Scores
- pRec
- 0.212
Intolerance Scores
- LoFtool
- 0.295
- RVIS EVS
- 0.13
- RVIS percentile EVS
- 62.74
Essentials
- Essential (CRISPR)
- N
- Essential (CRISPR2)
- N
- Essential (gene trap)
- N
- Indispensability pred.
- E
- Indispensability score
- 0.914
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |