BCL2L1
BCL2 like 1, the group of BCL2 family|Protein phosphatase 1 regulatory subunits
Basic information
Region (hg38): 20:31664451-31723989
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not provided (2 variants)
- Inborn genetic diseases (1 variants)
- Hereditary breast ovarian cancer syndrome (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the BCL2L1 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 | 2 | |||||
| missense | 2 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region ? | 0 | |||||
| non coding ? | 0 | |||||
| Total | 0 | 0 | 2 | 2 | 0 |
Variants in BCL2L1
This is a list of pathogenic ClinVar variants found in the BCL2L1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 20-31665977-A-G | Hereditary breast ovarian cancer syndrome | Uncertain significance (Aug 01, 2020) | ||
| 20-31666025-C-T | not specified | Uncertain significance (Mar 04, 2024) | ||
| 20-31666043-C-T | not specified | Uncertain significance (Mar 03, 2022) | ||
| 20-31721661-G-A | Likely benign (Jun 23, 2018) | |||
| 20-31721874-G-A | Likely benign (Jun 17, 2018) | |||
| 20-31721977-A-T | not specified | Uncertain significance (Mar 01, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| BCL2L1 | protein_coding | protein_coding | ENST00000307677 | 2 | 59538 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.937 | 0.0631 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.62 | 91 | 146 | 0.623 | 0.00000898 | 1535 |
| Missense in Polyphen | 7 | 35.018 | 0.1999 | 428 | ||
| Synonymous | 0.547 | 57 | 62.5 | 0.912 | 0.00000400 | 473 |
| Loss of Function | 2.74 | 0 | 8.76 | 0.00 | 4.62e-7 | 81 |
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) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Potent inhibitor of cell death. Inhibits activation of caspases. Appears to regulate cell death by blocking the voltage- dependent anion channel (VDAC) by binding to it and preventing the release of the caspase activator, CYC1, from the mitochondrial membrane. Also acts as a regulator of G2 checkpoint and progression to cytokinesis during mitosis.; FUNCTION: Isoform Bcl-X(S) promotes apoptosis.;
- Pathway
- PI3K-Akt signaling pathway - Homo sapiens (human);Chronic myeloid leukemia - Homo sapiens (human);Jak-STAT signaling pathway - Homo sapiens (human);Small cell lung cancer - Homo sapiens (human);Apoptosis - multiple species - Homo sapiens (human);Autophagy - animal - Homo sapiens (human);Amyotrophic lateral sclerosis (ALS) - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Mitophagy - animal - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);Toxoplasmosis - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Transcriptional misregulation in cancer - Homo sapiens (human);Apoptosis - Homo sapiens (human);NF-kappa B signaling pathway - Homo sapiens (human);Busulfan Pathway, Pharmacodynamics;Pancreatic cancer - Homo sapiens (human);Apoptosis Modulation and Signaling;Leptin signaling pathway;IL-7 Signaling Pathway;TNF alpha Signaling Pathway;Amyotrophic lateral sclerosis (ALS);Apoptosis;JAK-STAT;IL-3 Signaling Pathway;Photodynamic therapy-induced AP-1 survival signaling.;Photodynamic therapy-induced HIF-1 survival signaling;Apoptotic Signaling Pathway;IL-6 signaling pathway;Hepatitis C and Hepatocellular Carcinoma;Hematopoietic Stem Cell Gene Regulation by GABP alpha-beta Complex;LncRNA-mediated mechanisms of therapeutic resistance;Regulation of Apoptosis by Parathyroid Hormone-related Protein;VEGFA-VEGFR2 Signaling Pathway;Interleukin-4 and 13 signaling;apoptotic signaling in response to dna damage;PI3K-Akt Signaling Pathway;Ras Signaling;role of mitochondria in apoptotic signaling;il-2 receptor beta chain in t cell activation;ras signaling pathway;regulation of bad phosphorylation;opposing roles of aif in apoptosis and cell survival;The NLRP1 inflammasome;Inflammasomes;Nucleotide-binding domain, leucine rich repeat containing receptor (NLR) signaling pathways;Intrinsic Pathway for Apoptosis;Innate Immune System;Immune System;Apoptosis;Programmed Cell Death;ATF-2 transcription factor network;ErbB1 downstream signaling;Direct p53 effectors;EPO signaling pathway;BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members;TNFalpha;Caspase Cascade in Apoptosis;IL2 signaling events mediated by STAT5;CD40/CD40L signaling;IL2 signaling events mediated by PI3K;Role of Calcineurin-dependent NFAT signaling in lymphocytes;Class I PI3K signaling events mediated by Akt;IL4-mediated signaling events;IL6-mediated signaling events;IL3-mediated signaling events
(Consensus)
Recessive Scores
- pRec
- 0.758
Intolerance Scores
- loftool
- rvis_EVS
- -0.21
- rvis_percentile_EVS
- 38.28
Haploinsufficiency Scores
- pHI
- 0.699
- hipred
- Y
- hipred_score
- 0.798
- ghis
- 0.595
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- E
- essential_gene_gene_trap
- E
- gene_indispensability_pred
- E
- gene_indispensability_score
- 1.00
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Low |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Low | Medium |
Mouse Genome Informatics
- Gene name
- Bcl2l1
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms 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; 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; homeostasis/metabolism phenotype; immune system phenotype; endocrine/exocrine gland phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype;
Zebrafish Information Network
- Gene name
- bcl2l1
- Affected structure
- whole organism
- Phenotype tag
- abnormal
- Phenotype quality
- lacks all parts of type
Gene ontology
- Biological process
- ovarian follicle development;in utero embryonic development;release of cytochrome c from mitochondria;endocytosis;mitotic cell cycle checkpoint;germ cell development;spermatogenesis;cell population proliferation;positive regulation of cell population proliferation;male gonad development;intrinsic apoptotic signaling pathway in response to DNA damage;apoptotic mitochondrial changes;fertilization;suppression by virus of host apoptotic process;cytokine-mediated signaling pathway;regulation of cytokinesis;response to cytokine;regulation of growth;negative regulation of apoptotic process;negative regulation of neuron apoptotic process;response to cycloheximide;regulation of mitochondrial membrane permeability;neuron apoptotic process;regulation of mitochondrial membrane potential;cellular process regulating host cell cycle in response to virus;mitochondrion morphogenesis;cellular response to amino acid stimulus;cellular response to alkaloid;cellular response to gamma radiation;apoptotic process in bone marrow cell;negative regulation of release of cytochrome c from mitochondria;extrinsic apoptotic signaling pathway in absence of ligand;hepatocyte apoptotic process;negative regulation of execution phase of apoptosis;negative regulation of extrinsic apoptotic signaling pathway via death domain receptors;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;negative regulation of protein localization to plasma membrane;negative regulation of extrinsic apoptotic signaling pathway in absence of ligand;negative regulation of intrinsic apoptotic signaling pathway;positive regulation of intrinsic apoptotic signaling pathway
- Cellular component
- cytoplasm;mitochondrion;mitochondrial outer membrane;mitochondrial inner membrane;mitochondrial matrix;endoplasmic reticulum;centrosome;cytosol;integral component of membrane;cell junction;synaptic vesicle membrane;nuclear membrane;Bcl-2 family protein complex
- Molecular function
- protein binding;protein kinase binding;identical protein binding;protein homodimerization activity;protein heterodimerization activity;BH3 domain binding