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.

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				14	6	20
missense			6	3	2	11
nonsense				1		1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			4		1	5
Total	0	0	10	18	9

Variants in PPAN-P2RY11

This is a list of pathogenic ClinVar variants found in the PPAN-P2RY11 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-10107354-C-T		Cataplexy and narcolepsy	association (Dec 10, 2014)
19-10107977-G-A		not specified	Uncertain significance (Aug 28, 2023)
19-10108067-A-G		not specified	Uncertain significance (Nov 17, 2022)
19-10108124-A-G		not specified	Uncertain significance (Oct 29, 2021)
19-10110243-C-T			Likely benign (Aug 01, 2022)
19-10110738-G-T		not specified	Uncertain significance (Dec 20, 2023)
19-10110972-G-A			Likely benign (Jun 01, 2022)
19-10111092-G-A		not specified	Uncertain significance (Jan 30, 2024)
19-10111127-G-C		not specified	Uncertain significance (Oct 05, 2023)
19-10111137-G-A		not specified	Uncertain significance (Sep 26, 2024)
19-10111142-C-T		not specified	Uncertain significance (Sep 27, 2021)
19-10111519-A-G		Cataplexy and narcolepsy	association (Dec 10, 2014)
19-10111734-G-A			Benign (Dec 31, 2019)
19-10113670-C-T		not specified	Likely benign (Jul 26, 2024)
19-10113754-C-A		PPAN-P2RY11-related disorder	Benign (Dec 31, 2019)
19-10113793-A-G			Likely benign (Apr 01, 2023)
19-10113805-C-T		not specified	Likely benign (Aug 08, 2023)
19-10113811-C-A			Likely benign (Jun 13, 2018)
19-10113811-C-T		PPAN-P2RY11-related disorder	Likely benign (Apr 10, 2020)
19-10113820-C-A		P2RY11-related disorder	Likely benign (Jan 12, 2023)
19-10113826-G-A		not specified	Likely benign (Nov 11, 2024)
19-10113847-C-T			Benign/Likely benign (Jul 01, 2022)
19-10113863-C-T		not specified	Uncertain significance (Mar 14, 2023)
19-10113871-C-T			Likely benign (Jun 12, 2018)
19-10113872-G-A		P2RY11-related disorder	Benign (Oct 21, 2019)

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