BID
BH3 interacting domain death agonist, the group of BCL2 homology region 3 (BH3) only|MicroRNA protein coding host genes|Receptor ligands
Basic information
Region (hg38): 22:17734138-17774770
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 BID 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 | 18 | 19 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 18 | 1 | 0 |
Variants in BID
This is a list of pathogenic ClinVar variants found in the BID region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 22-17738046-G-A | not specified | Uncertain significance (Sep 01, 2021) | ||
| 22-17738093-A-G | not specified | Uncertain significance (Jun 03, 2022) | ||
| 22-17738102-G-A | not specified | Uncertain significance (Apr 15, 2024) | ||
| 22-17738105-G-A | not specified | Uncertain significance (Sep 14, 2022) | ||
| 22-17738149-C-T | not specified | Uncertain significance (Sep 29, 2023) | ||
| 22-17738208-T-C | not specified | Likely benign (Feb 27, 2023) | ||
| 22-17738219-C-T | not specified | Uncertain significance (Apr 20, 2024) | ||
| 22-17738225-C-T | not specified | Uncertain significance (Oct 30, 2023) | ||
| 22-17739395-A-C | not specified | Uncertain significance (Feb 22, 2023) | ||
| 22-17739401-C-A | not specified | Uncertain significance (Apr 17, 2024) | ||
| 22-17739404-G-A | not specified | Uncertain significance (Jun 16, 2023) | ||
| 22-17739407-G-A | not specified | Uncertain significance (Aug 13, 2021) | ||
| 22-17739449-C-T | not specified | Uncertain significance (Apr 26, 2023) | ||
| 22-17739462-G-A | not specified | Uncertain significance (May 16, 2022) | ||
| 22-17739485-G-C | not specified | Uncertain significance (Feb 05, 2024) | ||
| 22-17743838-C-G | not specified | Uncertain significance (Feb 14, 2024) | ||
| 22-17743848-C-T | not specified | Uncertain significance (May 13, 2022) | ||
| 22-17743926-G-A | not specified | Uncertain significance (Sep 01, 2021) | ||
| 22-17750131-G-A | not specified | Uncertain significance (Mar 19, 2024) | ||
| 22-17750139-C-T | not specified | Uncertain significance (Aug 17, 2021) | ||
| 22-17750149-C-T | not specified | Uncertain significance (Feb 02, 2022) | ||
| 22-17773637-G-T | not specified | Uncertain significance (Sep 25, 2023) | ||
| 22-17773658-C-A | not specified | Uncertain significance (May 30, 2023) | ||
| 22-17773683-T-C | not specified | Uncertain significance (Dec 15, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| BID | protein_coding | protein_coding | ENST00000317361 | 6 | 40631 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.56e-11 | 0.00818 | 125612 | 0 | 136 | 125748 | 0.000541 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.102 | 153 | 157 | 0.977 | 0.00000979 | 1578 |
| Missense in Polyphen | 40 | 39.931 | 1.0017 | 486 | ||
| Synonymous | 0.356 | 58 | 61.5 | 0.942 | 0.00000384 | 483 |
| Loss of Function | -1.31 | 14 | 9.61 | 1.46 | 4.09e-7 | 111 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00237 | 0.00227 |
| Ashkenazi Jewish | 0.000302 | 0.000298 |
| East Asian | 0.00127 | 0.00120 |
| Finnish | 0.000853 | 0.000832 |
| European (Non-Finnish) | 0.000379 | 0.000369 |
| Middle Eastern | 0.00127 | 0.00120 |
| South Asian | 0.000229 | 0.000229 |
| Other | 0.000834 | 0.000815 |
dbNSFP
Source:
- Function
- FUNCTION: The major proteolytic product p15 BID allows the release of cytochrome c (By similarity). Isoform 1, isoform 2 and isoform 4 induce ICE-like proteases and apoptosis. Isoform 3 does not induce apoptosis. Counters the protective effect of Bcl-2. {ECO:0000250|UniProtKB:P70444, ECO:0000269|PubMed:14583606}.;
- Pathway
- Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Non-alcoholic fatty liver disease (NAFLD) - Homo sapiens (human);Viral myocarditis - Homo sapiens (human);p53 signaling pathway - Homo sapiens (human);Apoptosis - multiple species - Homo sapiens (human);Alzheimer,s disease - Homo sapiens (human);Amyotrophic lateral sclerosis (ALS) - Homo sapiens (human);Necroptosis - Homo sapiens (human);Tuberculosis - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Apoptosis - Homo sapiens (human);miRNA Regulation of DNA Damage Response;TP53 Network;Apoptosis Modulation and Signaling;Alzheimers Disease;TNF alpha Signaling Pathway;Amyotrophic lateral sclerosis (ALS);Nanomaterial induced apoptosis;Apoptosis;Photodynamic therapy-induced AP-1 survival signaling.;Photodynamic therapy-induced HIF-1 survival signaling;Apoptotic Signaling Pathway;TP53 Regulates Transcription of Cell Death Genes;Apoptosis Modulation by HSP70;Regulation of Apoptosis by Parathyroid Hormone-related Protein;miRNA regulation of p53 pathway in prostate cancer;apoptotic signaling in response to dna damage;DNA Damage Response;Gene expression (Transcription);role of mitochondria in apoptotic signaling;induction of apoptosis through dr3 and dr4/5 death receptors;hiv-1 nef: negative effector of fas and tnf;Generic Transcription Pathway;Fas;TP53 Regulates Transcription of Cell Death Genes;RNA Polymerase II Transcription;Activation of BAD and translocation to mitochondria ;Activation of BH3-only proteins;Activation, translocation and oligomerization of BAX;Activation and oligomerization of BAK protein;Intrinsic Pathway for Apoptosis;Apoptosis;Programmed Cell Death;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;Activation, myristolyation of BID and translocation to mitochondria;Transcriptional Regulation by TP53;Direct p53 effectors;BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members;TNFalpha;TNF;Caspase Cascade in Apoptosis;HIV-1 Nef: Negative effector of Fas and TNF-alpha;FAS (CD95) signaling pathway;ATM pathway;Ceramide signaling pathway
(Consensus)
Recessive Scores
- pRec
- 0.116
Intolerance Scores
- loftool
- 0.957
- rvis_EVS
- -0.14
- rvis_percentile_EVS
- 43.57
Haploinsufficiency Scores
- pHI
- 0.0603
- hipred
- N
- hipred_score
- 0.398
- ghis
- 0.528
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.769
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Bid
- Phenotype
- cellular phenotype; homeostasis/metabolism phenotype; muscle phenotype; endocrine/exocrine gland phenotype; immune system phenotype; vision/eye 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); 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); hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); respiratory system phenotype; liver/biliary system phenotype;
Gene ontology
- Biological process
- release of cytochrome c from mitochondria;protein targeting to mitochondrion;activation of cysteine-type endopeptidase activity involved in apoptotic process;extrinsic apoptotic signaling pathway via death domain receptors;apoptotic mitochondrial changes;positive regulation of mitochondrial membrane potential;positive regulation of protein oligomerization;positive regulation of protein homooligomerization;regulation of cell population proliferation;signal transduction in response to DNA damage;mitochondrial ATP synthesis coupled electron transport;regulation of apoptotic process;positive regulation of apoptotic process;negative regulation of apoptotic process;protein homooligomerization;neuron apoptotic process;establishment of protein localization to membrane;positive regulation of release of cytochrome c from mitochondria;hepatocyte apoptotic process;mitochondrial outer membrane permeabilization;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway;negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage;regulation of G1/S transition of mitotic cell cycle;positive regulation of fibroblast apoptotic process;positive regulation of extrinsic apoptotic signaling pathway;positive regulation of intrinsic apoptotic signaling pathway
- Cellular component
- mitochondrion;mitochondrial outer membrane;cytosol;membrane;integral component of mitochondrial membrane
- Molecular function
- death receptor binding;protein binding;ubiquitin protein ligase binding;protein heterodimerization activity