BAD
BCL2 associated agonist of cell death, the group of BCL2 homology region 3 (BH3) only
Basic information
Region (hg38): 11:64269829-64284704
Links
Phenotypes
GenCC
Source:
No genCC data.
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 BAD 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 | 10 | 11 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 11 | 1 | 0 |
Variants in BAD
This is a list of pathogenic ClinVar variants found in the BAD region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 11-64270237-C-A | not specified | Uncertain significance (Apr 05, 2023) | ||
| 11-64270238-C-G | not specified | Uncertain significance (Apr 01, 2024) | ||
| 11-64270261-T-C | not specified | Uncertain significance (Oct 22, 2021) | ||
| 11-64270285-C-T | not specified | Uncertain significance (Nov 10, 2022) | ||
| 11-64270328-G-A | not specified | Uncertain significance (May 10, 2024) | ||
| 11-64271745-G-C | not specified | Likely benign (Feb 16, 2023) | ||
| 11-64271747-C-T | not specified | Uncertain significance (Mar 21, 2022) | ||
| 11-64271755-C-A | not specified | Uncertain significance (Feb 07, 2023) | ||
| 11-64271798-C-T | not specified | Uncertain significance (Mar 01, 2023) | ||
| 11-64284223-C-T | not specified | Uncertain significance (Dec 23, 2022) | ||
| 11-64284272-C-T | not specified | Uncertain significance (Dec 19, 2022) | ||
| 11-64284275-A-C | not specified | Uncertain significance (Feb 12, 2024) | ||
| 11-64284391-T-C | not specified | Uncertain significance (Aug 16, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| BAD | protein_coding | protein_coding | ENST00000394532 | 3 | 14875 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00462 | 0.697 | 124273 | 0 | 3 | 124276 | 0.0000121 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.552 | 98 | 83.8 | 1.17 | 0.00000385 | 1079 |
| Missense in Polyphen | 36 | 34.332 | 1.0486 | 484 | ||
| Synonymous | -1.08 | 42 | 34.0 | 1.24 | 0.00000169 | 324 |
| Loss of Function | 0.686 | 4 | 5.78 | 0.692 | 2.50e-7 | 65 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000281 | 0.0000267 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Promotes cell death. Successfully competes for the binding to Bcl-X(L), Bcl-2 and Bcl-W, thereby affecting the level of heterodimerization of these proteins with BAX. Can reverse the death repressor activity of Bcl-X(L), but not that of Bcl-2 (By similarity). Appears to act as a link between growth factor receptor signaling and the apoptotic pathways. {ECO:0000250}.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);Non-small cell lung cancer - Homo sapiens (human);Chronic myeloid leukemia - Homo sapiens (human);Focal adhesion - Homo sapiens (human);Renal cell carcinoma - Homo sapiens (human);VEGF signaling pathway - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);Melanoma - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);Autophagy - animal - Homo sapiens (human);Alzheimer,s disease - Homo sapiens (human);Amyotrophic lateral sclerosis (ALS) - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Thyroid hormone signaling pathway - Homo sapiens (human);Prostate cancer - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);Toxoplasmosis - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Hepatitis B - Homo sapiens (human);cGMP-PKG signaling pathway - Homo sapiens (human);Apoptosis - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Endometrial cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);Intracellular Signalling Through Adenosine Receptor A2b and Adenosine;Intracellular Signalling Through Adenosine Receptor A2a and Adenosine;Apoptosis Modulation and Signaling;Angiogenesis overview;Leptin signaling pathway;IL-7 Signaling Pathway;Alzheimers Disease;TNF alpha Signaling Pathway;Brain-Derived Neurotrophic Factor (BDNF) signaling pathway;Amyotrophic lateral sclerosis (ALS);Apoptosis;JAK-STAT;IL-3 Signaling Pathway;Kit receptor signaling pathway;Focal Adhesion;Rac1-Pak1-p38-MMP-2 pathway;Apoptotic Signaling Pathway;IL-6 signaling pathway;PI3K-AKT-mTOR signaling pathway and therapeutic opportunities;IL-4 Signaling Pathway;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;Oxidative Damage;miRNA regulation of prostate cancer signaling pathways;NO-cGMP-PKG mediated Neuroprotection;apoptotic signaling in response to dna damage;Endometrial cancer;PI3K-Akt Signaling Pathway;MET in type 1 papillary renal cell carcinoma;Chromosomal and microsatellite instability in colorectal cancer;Ras Signaling;ErbB Signaling Pathway;DNA Damage Response (only ATM dependent);TWEAK;Disease;Signal Transduction;trefoil factors initiate mucosal healing;akt signaling pathway;ras signaling pathway;regulation of bad phosphorylation;multiple antiapoptotic pathways from igf-1r signaling lead to bad phosphorylation;phosphoinositides and their downstream targets;Alpha6Beta4Integrin;Activation of BAD and translocation to mitochondria ;Activation of BH3-only proteins;Intrinsic Pathway for Apoptosis;Apoptosis;Programmed Cell Death;insulin Mam;ceramide signaling pathway;IL-7 signaling;role of nicotinic acetylcholine receptors in the regulation of apoptosis;BDNF;EGFR1;CXCR4-mediated signaling events;ErbB1 downstream signaling;NRAGE signals death through JNK;PIP3 activates AKT signaling;EPO signaling;Death Receptor Signalling;IL3;p75 NTR receptor-mediated signalling;IL4;Constitutive Signaling by AKT1 E17K in Cancer;PI3K/AKT Signaling in Cancer;BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members;IL6;IL-7;AKT phosphorylates targets in the cytosol;VEGF;ErbB2/ErbB3 signaling events;Intracellular signaling by second messengers;Diseases of signal transduction;Signaling events mediated by Hepatocyte Growth Factor Receptor (c-Met);p75(NTR)-mediated signaling;Cell death signalling via NRAGE, NRIF and NADE;IGF1 pathway;Signaling events mediated by Stem cell factor receptor (c-Kit);Alpha-synuclein signaling;Role of Calcineurin-dependent NFAT signaling in lymphocytes;Class I PI3K signaling events mediated by Akt;Trk receptor signaling mediated by PI3K and PLC-gamma;Nephrin/Neph1 signaling in the kidney podocyte;Ceramide signaling pathway;insulin
(Consensus)
Recessive Scores
- pRec
- 0.534
Intolerance Scores
- loftool
- 0.645
- rvis_EVS
- -0.32
- rvis_percentile_EVS
- 31.46
Haploinsufficiency Scores
- pHI
- 0.185
- hipred
- Y
- hipred_score
- 0.551
- ghis
- 0.590
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.971
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Bad
- Phenotype
- immune system phenotype; 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); neoplasm; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; hematopoietic system phenotype; cellular phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype;
Gene ontology
- Biological process
- release of cytochrome c from mitochondria;protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;glucose catabolic process;apoptotic process;activation of cysteine-type endopeptidase activity involved in apoptotic process;spermatogenesis;extrinsic apoptotic signaling pathway via death domain receptors;intrinsic apoptotic signaling pathway in response to DNA damage;response to glucose;positive regulation of autophagy;positive regulation of mitochondrial membrane potential;suppression by virus of host apoptotic process;cytokine-mediated signaling pathway;cerebral cortex development;positive regulation of insulin secretion;response to estradiol;response to progesterone;positive regulation of glucokinase activity;response to testosterone;response to oleic acid;positive regulation of insulin secretion involved in cellular response to glucose stimulus;response to hydrogen peroxide;glucose homeostasis;positive regulation of apoptotic process;response to amino acid;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;type B pancreatic cell proliferation;response to ethanol;positive regulation of B cell differentiation;positive regulation of T cell differentiation;positive regulation of proteolysis;ADP metabolic process;ATP metabolic process;regulation of mitochondrial membrane permeability;pore complex assembly;positive regulation of epithelial cell proliferation;response to glucocorticoid;response to calcium ion;positive regulation of apoptotic process by virus;cellular process regulating host cell cycle in response to virus;cellular response to chromate;cellular response to mechanical stimulus;cellular response to nicotine;cellular response to lipid;cellular response to hypoxia;positive regulation of release of cytochrome c from mitochondria;extrinsic apoptotic signaling pathway;extrinsic apoptotic signaling pathway in absence of ligand;intrinsic apoptotic signaling pathway;activation of cysteine-type endopeptidase activity;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;positive regulation of neuron death;positive regulation of intrinsic apoptotic signaling pathway in response to osmotic stress;positive regulation of granulosa cell apoptotic process;positive regulation of type B pancreatic cell development;positive regulation of intrinsic apoptotic signaling pathway
- Cellular component
- mitochondrion;mitochondrial outer membrane;cytosol
- Molecular function
- protein binding;phospholipid binding;lipid binding;cysteine-type endopeptidase activator activity involved in apoptotic process;protein kinase binding;protein phosphatase binding;protein phosphatase 2B binding;protein kinase B binding;protein heterodimerization activity;14-3-3 protein binding