PAWR

pro-apoptotic WT1 regulator

Basic information

Region (hg38): 12:79574978-79690964

Links

ENSG00000177425 ∙ NCBI:5074 ∙ OMIM:601936 ∙ HGNC:8614 ∙ Uniprot:Q96IZ0 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the PAWR gene.

• Inborn genetic diseases (11 variants)
• not provided (1 variants)

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	1
missense			11			11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	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 (Apr 28, 2022)
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: gnomAD

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: dbNSFP

• 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