PMAIP1
phorbol-12-myristate-13-acetate-induced protein 1, the group of BCL2 homology region 3 (BH3) only
Basic information
Region (hg38): 18:59899995-59904305
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the PMAIP1 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 | 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 | 0 | 0 |
Variants in PMAIP1
This is a list of pathogenic ClinVar variants found in the PMAIP1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 18-59900205-G-A | not specified | Uncertain significance (Dec 15, 2022) | ||
| 18-59900212-C-T | not specified | Uncertain significance (Aug 08, 2023) | ||
| 18-59902683-T-G | not specified | Uncertain significance (Oct 17, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PMAIP1 | protein_coding | protein_coding | ENST00000316660 | 2 | 4359 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.112 | 0.614 | 125596 | 0 | 1 | 125597 | 0.00000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.282 | 25 | 29.3 | 0.854 | 0.00000151 | 337 |
| Missense in Polyphen | 3 | 4.507 | 0.66563 | 63 | ||
| Synonymous | -0.493 | 14 | 11.8 | 1.18 | 5.84e-7 | 110 |
| Loss of Function | 0.317 | 1 | 1.41 | 0.712 | 5.94e-8 | 17 |
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) | 0.00000881 | 0.00000881 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Promotes activation of caspases and apoptosis. Promotes mitochondrial membrane changes and efflux of apoptogenic proteins from the mitochondria. Contributes to p53/TP53-dependent apoptosis after radiation exposure. Promotes proteasomal degradation of MCL1. Competes with BAK1 for binding to MCL1 and can displace BAK1 from its binding site on MCL1 (By similarity). Competes with BIM/BCL2L11 for binding to MCL1 and can displace BIM/BCL2L11 from its binding site on MCL1. {ECO:0000250, ECO:0000269|PubMed:10807576, ECO:0000269|PubMed:15694340, ECO:0000269|PubMed:15705586, ECO:0000269|PubMed:17374615, ECO:0000269|PubMed:17389404}.;
- Pathway
- p53 signaling pathway - Homo sapiens (human);Apoptosis - multiple species - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Apoptosis - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);miRNA Regulation of DNA Damage Response;TP53 Network;Apoptosis Modulation and Signaling;Intrinsic Pathway for Apoptosis;Apoptosis;Photodynamic therapy-induced HIF-1 survival signaling;Apoptotic Signaling Pathway;TP53 Regulates Transcription of Cell Death Genes;H19 action Rb-E2F1 signaling and CDK-β-catenin activity;miRNA regulation of p53 pathway in prostate cancer;Chromosomal and microsatellite instability in colorectal cancer;DNA Damage Response;DNA Damage Response (only ATM dependent);Gene expression (Transcription);Generic Transcription Pathway;TP53 Regulates Transcription of Cell Death Genes;RNA Polymerase II Transcription;Activation of NOXA and translocation to mitochondria;Activation of BH3-only proteins;Intrinsic Pathway for Apoptosis;Apoptosis;Programmed Cell Death;TP53 Regulates Transcription of Genes Involved in Cytochrome C Release;Validated transcriptional targets of TAp63 isoforms;Transcriptional Regulation by TP53;Direct p53 effectors;BH3-only proteins associate with and inactivate anti-apoptotic BCL-2 members;Validated targets of C-MYC transcriptional activation
(Consensus)
Haploinsufficiency Scores
- pHI
- 0.833
- hipred
- N
- hipred_score
- 0.461
- ghis
- 0.634
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.719
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pmaip1
- 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); hematopoietic system phenotype; immune system phenotype; cellular phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- release of cytochrome c from mitochondria;protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;apoptotic process;activation of cysteine-type endopeptidase activity involved in apoptotic process;cellular response to DNA damage stimulus;proteasomal protein catabolic process;positive regulation of glucose metabolic process;negative regulation of mitochondrial membrane potential;positive regulation of protein oligomerization;cellular response to glucose starvation;regulation of apoptotic process;T cell homeostasis;positive regulation of apoptotic process;positive regulation of cysteine-type endopeptidase activity involved in apoptotic process;response to dsRNA;positive regulation of DNA damage response, signal transduction by p53 class mediator;regulation of mitochondrial membrane permeability;defense response to virus;cellular response to hypoxia;intrinsic apoptotic signaling pathway by p53 class mediator;reactive oxygen species metabolic process;positive regulation of release of cytochrome c from mitochondria;intrinsic apoptotic signaling pathway;positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway;positive regulation of extrinsic apoptotic signaling pathway via death domain receptors;positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway;positive regulation of intrinsic apoptotic signaling pathway
- Cellular component
- nucleus;mitochondrion;mitochondrial outer membrane;cytosol
- Molecular function
- protein binding