PAWR
pro-apoptotic WT1 regulator
Basic information
Region (hg38): 12:79574979-79690964
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 PAWR 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 | 1 | |||||
| missense | 16 | 16 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 16 | 0 | 1 |
Variants in PAWR
This is a list of pathogenic ClinVar variants found in the PAWR region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 12-79592625-C-A | Benign (Dec 31, 2019) | |||
| 12-79596633-C-A | not specified | Uncertain significance (Nov 09, 2022) | ||
| 12-79621119-T-G | not specified | Uncertain significance (Nov 30, 2022) | ||
| 12-79621158-C-T | not specified | Uncertain significance (Jun 22, 2021) | ||
| 12-79689821-G-A | not specified | Uncertain significance (Jan 29, 2024) | ||
| 12-79689863-C-T | not specified | Uncertain significance (Oct 06, 2022) | ||
| 12-79689874-T-A | not specified | Uncertain significance (May 02, 2023) | ||
| 12-79689896-C-T | not specified | Uncertain significance (Jun 07, 2024) | ||
| 12-79689911-G-T | not specified | Uncertain significance (Nov 03, 2022) | ||
| 12-79689914-C-T | not specified | Uncertain significance (Dec 22, 2023) | ||
| 12-79689946-C-T | not specified | Uncertain significance (Jan 09, 2024) | ||
| 12-79689982-C-T | not specified | Uncertain significance (Aug 17, 2021) | ||
| 12-79690054-G-A | not specified | Uncertain significance (Jun 28, 2022) | ||
| 12-79690060-G-C | not specified | Uncertain significance (Jan 16, 2024) | ||
| 12-79690097-C-T | not specified | Uncertain significance (Dec 16, 2023) | ||
| 12-79690184-C-G | not specified | Uncertain significance (Sep 01, 2021) | ||
| 12-79690240-G-A | not specified | Uncertain significance (Feb 10, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| PAWR | protein_coding | protein_coding | ENST00000328827 | 6 | 116119 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0895 | 0.903 | 125662 | 0 | 4 | 125666 | 0.0000159 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.495 | 117 | 133 | 0.879 | 0.00000623 | 2138 |
| Missense in Polyphen | 45 | 60.504 | 0.74375 | 908 | ||
| Synonymous | -0.666 | 59 | 52.8 | 1.12 | 0.00000250 | 693 |
| Loss of Function | 2.31 | 4 | 13.0 | 0.307 | 7.13e-7 | 175 |
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) | 0.0000192 | 0.0000176 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000821 | 0.0000653 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Pro-apoptopic protein capable of selectively inducing apoptosis in cancer cells, sensitizing the cells to diverse apoptotic stimuli and causing regression of tumors in animal models. Induces apoptosis in certain cancer cells by activation of the Fas prodeath pathway and coparallel inhibition of NF-kappa-B transcriptional activity. Inhibits the transcriptional activation and augments the transcriptional repression mediated by WT1. Down- regulates the anti-apoptotic protein BCL2 via its interaction with WT1. Seems also to be a transcriptional repressor by itself. May be directly involved in regulating the amyloid precursor protein (APP) cleavage activity of BACE1. {ECO:0000269|PubMed:11585763}.;
- Pathway
- Coregulation of Androgen receptor activity;Ceramide signaling pathway
(Consensus)
Recessive Scores
- pRec
- 0.291
Haploinsufficiency Scores
- pHI
- 0.849
- hipred
- Y
- hipred_score
- 0.693
- ghis
- 0.500
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.894
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Pawr
- Phenotype
- behavior/neurological phenotype (the observable actions or reactions of mammalian organisms 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); normal phenotype; hematopoietic system phenotype; cellular phenotype; homeostasis/metabolism phenotype; immune system phenotype;
Gene ontology
- Biological process
- negative regulation of transcription by RNA polymerase II;apoptotic process;positive regulation of gene expression;negative regulation of B cell proliferation;interleukin-2 biosynthetic process;negative regulation of T cell proliferation;positive regulation of amyloid precursor protein biosynthetic process;positive regulation of apoptotic process;negative regulation of fibroblast proliferation;negative regulation of T cell receptor signaling pathway;actin filament bundle assembly;apoptotic signaling pathway;positive regulation of hydrogen peroxide-mediated programmed cell death;positive regulation of cellular senescence
- Cellular component
- nuclear chromatin;nucleus;cytoplasm;actin filament
- Molecular function
- transcription corepressor activity;actin binding;protein binding;enzyme binding;leucine zipper domain binding