PPAN-P2RY11

PPAN-P2RY11 readthrough

Basic information

Region (hg38): 19:10106223-10114780

Links

ENSG00000243207 ∙ NCBI:692312 ∙ ∙ HGNC:33526 ∙ ∙ ∙ 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 PPAN-P2RY11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPAN-P2RY11 gene is commonly pathogenic or not. These statistics are base on transcript: . Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				14	6	20
missense			6	3	2	11
nonsense				1		1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	6	18	8

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPAN-P2RY11	protein_coding	protein_coding	ENST00000393796	13	8558

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.72e-12	0.201	125401	4	342	125747	0.00138

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.77	647	532	1.22	0.0000365	5061
Missense in Polyphen		253	214.83	1.1777		2151
Synonymous	-4.30	321	237	1.36	0.0000168	1650
Loss of Function	0.911	21	26.0	0.807	0.00000128	285

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00316	0.00305
Ashkenazi Jewish	0.00	0.00
East Asian	0.000395	0.000381
Finnish	0.000141	0.000139
European (Non-Finnish)	0.000713	0.000695
Middle Eastern	0.000395	0.000381
South Asian	0.00644	0.00626
Other	0.00148	0.00147

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May have a role in cell growth.

Intolerance Scores

• rvis_EVS: -0.62
• rvis_percentile_EVS: 17.17

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.173
• ghis: 0.399

Essentials

• essential_gene_CRISPR: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.914

Gene ontology

• Biological process: ribosomal large subunit assembly;G protein-coupled purinergic nucleotide receptor signaling pathway
• Cellular component: integral component of membrane;preribosome, large subunit precursor
• Molecular function: G protein-coupled purinergic nucleotide receptor activity