PPAN

peter pan homolog, the group of Small nucleolar RNA protein coding host genes

Basic information

Region (hg38): 19:10106362-10112012

Links

ENSG00000130810 ∙ NCBI:56342 ∙ OMIM:607793 ∙ HGNC:9227 ∙ Uniprot:Q9NQ55 ∙ 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 PPAN gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PPAN 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			7	1		8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	7	2	1

Variants in PPAN

This is a list of pathogenic ClinVar variants found in the PPAN 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)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PPAN	protein_coding	protein_coding	ENST00000556468	13	8450

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.

Recessive Scores

• pRec: 0.183

Intolerance Scores

• loftool: 0.719
• rvis_EVS: -0.86
• rvis_percentile_EVS: 10.85

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.173
• ghis: 0.411

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.946

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ppan

Gene ontology

• Biological process: ribosomal large subunit assembly
• Cellular component: nucleus;nucleolus;preribosome, large subunit precursor
• Molecular function: RNA binding