P2RX5-TAX1BP3

P2RX5-TAX1BP3 readthrough (NMD candidate)

Basic information

Region (hg38): 17:3663062-3696194

Links

ENSG00000257950 ∙ NCBI:100533970 ∙ ∙ HGNC:49191 ∙ ∙ ∙ 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 P2RX5-TAX1BP3 gene.

• Inborn genetic diseases (41 variants)
• not provided (11 variants)
• TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy (1 variants)
• Ocular cystinosis (1 variants)
• not specified (1 variants)
• Primary familial dilated cardiomyopathy (1 variants)
• Nephropathic cystinosis (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the P2RX5-TAX1BP3 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						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)			1	1		2
splice region						0
non coding			44	2	5	51
Total	0	0	45	3	5

Variants in P2RX5-TAX1BP3

This is a list of pathogenic ClinVar variants found in the P2RX5-TAX1BP3 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
17-3663086-A-G		Nephropathic cystinosis • Ocular cystinosis	Uncertain significance (Jan 13, 2018)
17-3663755-A-G			Benign (Jan 22, 2024)
17-3663765-G-T		not specified	Uncertain significance (Jun 21, 2023)
17-3663767-T-C			Uncertain significance (Jul 13, 2023)
17-3663771-C-T		not specified	Uncertain significance (Sep 20, 2023)
17-3663792-G-A		not specified	Uncertain significance (Aug 14, 2023)
17-3663794-G-A			Uncertain significance (Jul 07, 2023)
17-3663869-A-G		not specified	Uncertain significance (Feb 13, 2024)
17-3664199-A-G		TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy • Primary familial dilated cardiomyopathy	Conflicting classifications of pathogenicity (Apr 16, 2020)
17-3664222-C-G			Benign (Jan 29, 2024)
17-3664257-G-A		not specified	Uncertain significance (Sep 14, 2022)
17-3664265-T-C		not specified	Uncertain significance (Jan 16, 2024)
17-3664270-A-G			Benign (Nov 12, 2022)
17-3664289-C-A			Likely benign (Aug 25, 2023)
17-3664679-C-A			Uncertain significance (May 12, 2023)
17-3664705-G-T		not specified	Uncertain significance (Dec 27, 2022)
17-3664718-A-G			Benign (Jan 31, 2024)
17-3664723-G-C			Uncertain significance (Oct 03, 2023)
17-3664731-C-A		not specified	Uncertain significance (Jun 06, 2023)
17-3664740-A-G			Uncertain significance (May 01, 2020)
17-3664774-G-A		not specified	Uncertain significance (Nov 17, 2022)
17-3664792-C-A		not specified	Uncertain significance (Sep 22, 2023)
17-3668479-C-T			Benign (Sep 12, 2023)
17-3668493-C-A		not specified	Uncertain significance (Jan 06, 2023)
17-3669169-G-T		not specified	Uncertain significance (Mar 13, 2023)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.410