BAX
BCL2 associated X, apoptosis regulator, the group of BCL2 family
Basic information
Region (hg38): 19:48954815-48961798
Links
Phenotypes
GenCC
Source:
- leukemia, acute lymphocytic, susceptibility to, 1 (Limited), mode of inheritance: Unknown
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 BAX 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 | 3 | |||||
| missense | 11 | 12 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 1 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 1 | |||||
| Total | 0 | 0 | 13 | 3 | 1 |
Variants in BAX
This is a list of pathogenic ClinVar variants found in the BAX region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 19-48954935-G-T | not specified | Uncertain significance (May 30, 2024) | ||
| 19-48954938-T-C | not specified | Uncertain significance (Nov 12, 2021) | ||
| 19-48955556-A-G | not specified | Uncertain significance (Sep 01, 2021) | ||
| 19-48955582-G-A | Likely benign (Jul 16, 2018) | |||
| 19-48955713-TG-T | Carcinoma of colon | Pathogenic (Feb 14, 1997) | ||
| 19-48955713-TGGGGGGG-T | T-cell acute lymphoblastic leukemia | Pathogenic (Apr 15, 1998) | ||
| 19-48955713-T-TG | Carcinoma of colon • Inborn genetic diseases | Uncertain significance (Jan 18, 2018) | ||
| 19-48955714-G-C | not specified | Uncertain significance (Dec 17, 2023) | ||
| 19-48955714-G-T | not specified | Uncertain significance (Jul 13, 2022) | ||
| 19-48955767-C-A | not specified | Uncertain significance (May 04, 2023) | ||
| 19-48955767-C-T | not specified | Uncertain significance (Mar 19, 2024) | ||
| 19-48955773-A-G | not specified | Likely benign (May 24, 2023) | ||
| 19-48955796-A-G | not specified | Uncertain significance (May 31, 2023) | ||
| 19-48955799-G-A | T-cell acute lymphoblastic leukemia | Pathogenic (Apr 15, 1998) | ||
| 19-48956205-G-C | not specified | Uncertain significance (Nov 22, 2023) | ||
| 19-48956242-T-C | not specified | Uncertain significance (Jun 05, 2024) | ||
| 19-48956261-G-C | not specified | Uncertain significance (Dec 12, 2023) | ||
| 19-48956270-C-T | Benign (May 21, 2018) | |||
| 19-48960990-G-A | not specified | Uncertain significance (Mar 07, 2023) | ||
| 19-48961009-G-C | not specified | Uncertain significance (Feb 17, 2024) | ||
| 19-48961065-G-A | not specified | Uncertain significance (Sep 25, 2023) | ||
| 19-48961558-G-A | Likely benign (Apr 10, 2018) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| BAX | protein_coding | protein_coding | ENST00000293288 | 5 | 6984 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.317 | 0.667 | 125693 | 0 | 5 | 125698 | 0.0000199 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.299 | 120 | 130 | 0.926 | 0.00000802 | 1390 |
| Missense in Polyphen | 23 | 36.846 | 0.62423 | 437 | ||
| Synonymous | -0.268 | 57 | 54.5 | 1.05 | 0.00000357 | 450 |
| Loss of Function | 2.04 | 2 | 8.38 | 0.239 | 6.37e-7 | 73 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.0000994 | 0.0000994 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.0000465 | 0.0000462 |
| European (Non-Finnish) | 0.0000279 | 0.0000264 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Plays a role in the mitochondrial apoptotic process. Under normal conditions, BAX is largely cytosolic via constant retrotranslocation from mitochondria to the cytosol mediated by BCL2L1/Bcl-xL, which avoids accumulation of toxic BAX levels at the mitochondrial outer membrane (MOM) (PubMed:21458670). Under stress conditions, undergoes a conformation change that causes translocation to the mitochondrion membrane, leading to the release of cytochrome c that then triggers apoptosis. Promotes activation of CASP3, and thereby apoptosis. {ECO:0000269|PubMed:10772918, ECO:0000269|PubMed:16113678, ECO:0000269|PubMed:18948948, ECO:0000269|PubMed:21199865, ECO:0000269|PubMed:21458670, ECO:0000269|PubMed:8358790, ECO:0000269|PubMed:8521816}.;
- Pathway
- Prion diseases - Homo sapiens (human);Non-small cell lung cancer - Homo sapiens (human);Chronic myeloid leukemia - Homo sapiens (human);Gastric cancer - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);Melanoma - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);p53 signaling pathway - Homo sapiens (human);Small cell lung cancer - Homo sapiens (human);Apoptosis - multiple species - Homo sapiens (human);Breast cancer - Homo sapiens (human);Protein processing in endoplasmic reticulum - Homo sapiens (human);Amyotrophic lateral sclerosis (ALS) - Homo sapiens (human);Huntington,s disease - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Basal cell carcinoma - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Glioma - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);Necroptosis - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Transcriptional misregulation in cancer - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Apoptosis - Homo sapiens (human);Thyroid cancer - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Endometrial cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Human papillomavirus infection - Homo sapiens (human);Vinka Alkaloid Pathway, Pharmacokinetics;miRNA Regulation of DNA Damage Response;TP53 Network;Apoptosis Modulation and Signaling;Integrated Breast Cancer Pathway;Leptin signaling pathway;TNF alpha Signaling Pathway;Amyotrophic lateral sclerosis (ALS);Nanomaterial induced apoptosis;Apoptosis;JAK-STAT;Mammary gland development pathway - Involution (Stage 4 of 4);Aryl Hydrocarbon Receptor Pathway;Nuclear Receptors Meta-Pathway;Overview of nanoparticle effects;Rac1-Pak1-p38-MMP-2 pathway;Photodynamic therapy-induced AP-1 survival signaling.;Photodynamic therapy-induced HIF-1 survival signaling;Apoptotic Signaling Pathway;TP53 Regulates Transcription of Cell Death Genes;Regulation of Apoptosis by Parathyroid Hormone-related Protein;Protein alkylation leading to liver fibrosis;miRNA regulation of p53 pathway in prostate cancer;apoptotic signaling in response to dna damage;Endometrial cancer;Chromosomal and microsatellite instability in colorectal cancer;DNA Damage Response;DNA Damage Response (only ATM dependent);Transcriptional regulation by RUNX2;Gene expression (Transcription);hypoxia and p53 in the cardiovascular system;role of mitochondria in apoptotic signaling;regulation of bad phosphorylation;regulation of cell cycle progression by plk3;Generic Transcription Pathway;Fas;TP53 Regulates Transcription of Cell Death Genes;RNA Polymerase II Transcription;Activation, translocation and oligomerization of BAX;Release of apoptotic factors from the mitochondria;Intrinsic Pathway for Apoptosis;Apoptosis;Programmed Cell Death;p73 transcription factor network;BCR;ceramide signaling pathway;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest;TP53 Regulates Transcription of Cell Cycle Genes;Glucocorticoid receptor regulatory network;Validated transcriptional targets of TAp63 isoforms;Transcriptional Regulation by TP53;Direct p53 effectors;IL5;TNF;Caspase Cascade in Apoptosis;Validated targets of C-MYC transcriptional activation;Signaling events mediated by HDAC Class III;Role of Calcineurin-dependent NFAT signaling in lymphocytes;Ceramide signaling pathway;Syndecan-2-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.852
Intolerance Scores
- loftool
- 0.854
- rvis_EVS
- -0.6
- rvis_percentile_EVS
- 17.75
Haploinsufficiency Scores
- pHI
- 0.846
- hipred
- Y
- hipred_score
- 0.709
- ghis
- 0.601
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.990
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Bax
- Phenotype
- cellular phenotype; homeostasis/metabolism phenotype; muscle phenotype; growth/size/body region phenotype; endocrine/exocrine gland phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; immune system phenotype; skeleton phenotype; renal/urinary 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); hearing/vestibular/ear phenotype; limbs/digits/tail phenotype; 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; neoplasm;
Gene ontology
- Biological process
- ovarian follicle development;neuron migration;T cell homeostatic proliferation;B cell homeostasis;B cell apoptotic process;kidney development;release of cytochrome c from mitochondria;protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;blood vessel remodeling;myeloid cell homeostasis;B cell negative selection;B cell homeostatic proliferation;positive regulation of B cell apoptotic process;transcription initiation from RNA polymerase II promoter;glycosphingolipid metabolic process;regulation of nitrogen utilization;apoptotic process;activation of cysteine-type endopeptidase activity involved in apoptotic process;DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest;germ cell development;mitochondrial fusion;extrinsic apoptotic signaling pathway via death domain receptors;intrinsic apoptotic signaling pathway in response to DNA damage;activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c;apoptotic mitochondrial changes;fertilization;response to toxic substance;response to salt stress;establishment or maintenance of transmembrane electrochemical gradient;response to gamma radiation;viral process;hypothalamus development;cerebral cortex development;negative regulation of protein binding;positive regulation of protein oligomerization;endoplasmic reticulum calcium ion homeostasis;negative regulation of endoplasmic reticulum calcium ion concentration;release of matrix enzymes from mitochondria;negative regulation of peptidyl-serine phosphorylation;regulation of mammary gland epithelial cell proliferation;cellular response to unfolded protein;cellular response to UV;ectopic germ cell programmed cell death;odontogenesis of dentin-containing tooth;regulation of apoptotic process;positive regulation of apoptotic process;regulation of protein homodimerization activity;regulation of protein heterodimerization activity;negative regulation of neuron apoptotic process;positive regulation of neuron apoptotic process;mitochondrial fragmentation involved in apoptotic process;development of secondary sexual characteristics;retinal cell programmed cell death;positive regulation of developmental pigmentation;negative regulation of fibroblast proliferation;spermatid differentiation;post-embryonic camera-type eye morphogenesis;response to axon injury;homeostasis of number of cells within a tissue;protein complex oligomerization;protein homooligomerization;positive regulation of release of sequestered calcium ion into cytosol;neuron apoptotic process;regulation of mitochondrial membrane potential;Sertoli cell proliferation;retina development in camera-type eye;positive regulation of apoptotic process involved in mammary gland involution;vagina development;intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress;thymocyte apoptotic process;mitochondrion morphogenesis;intrinsic apoptotic signaling pathway by p53 class mediator;positive regulation of release of cytochrome c from mitochondria;apoptotic signaling pathway;extrinsic apoptotic signaling pathway;extrinsic apoptotic signaling pathway in absence of ligand;intrinsic apoptotic signaling pathway;activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway;positive regulation of endoplasmic reticulum unfolded protein response;positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;apoptotic process involved in blood vessel morphogenesis;apoptotic process involved in embryonic digit morphogenesis;regulation of mitochondrial membrane permeability involved in programmed necrotic cell death;positive regulation of apoptotic DNA fragmentation;positive regulation of IRE1-mediated unfolded protein response;B cell receptor apoptotic signaling pathway;negative regulation of apoptotic signaling pathway;positive regulation of intrinsic apoptotic signaling pathway
- Cellular component
- nucleus;nuclear envelope;cytoplasm;mitochondrion;mitochondrial outer membrane;mitochondrial permeability transition pore complex;endoplasmic reticulum;endoplasmic reticulum membrane;cytosol;membrane;pore complex;extracellular exosome;cell periphery;Bcl-2 family protein complex;BAX complex
- Molecular function
- protein binding;lipid binding;channel activity;Hsp70 protein binding;identical protein binding;protein homodimerization activity;protein heterodimerization activity;chaperone binding;BH3 domain binding