PRR9

proline rich 9

Basic information

Region (hg38): 1:153217584-153219310

Links

ENSG00000203783 ∙ NCBI:574414 ∙ ∙ HGNC:32057 ∙ Uniprot:Q5T870 ∙ 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 PRR9 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR9 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			5	1		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	1	1

Variants in PRR9

This is a list of pathogenic ClinVar variants found in the PRR9 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-153218152-T-C		not specified	Uncertain significance (Feb 14, 2025)
1-153218161-A-C		not specified	Uncertain significance (Nov 06, 2023)
1-153218175-C-T		not specified	Uncertain significance (Jun 03, 2022)
1-153218253-T-G		not specified	Uncertain significance (Mar 18, 2024)
1-153218400-G-C		not specified	Uncertain significance (Oct 16, 2024)
1-153218428-C-T		not specified	Uncertain significance (Dec 28, 2022)
1-153218459-C-T			Benign (May 18, 2018)
1-153218473-C-T		not specified	Likely benign (Mar 03, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRR9	protein_coding	protein_coding	ENST00000368744	1	1734

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000321	0.107	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.453	47	56.6	0.831	0.00000237	762
Missense in Polyphen		11	13.574	0.81035		193
Synonymous	0.916	17	22.5	0.755	9.74e-7	205
Loss of Function	-1.06	7	4.56	1.54	1.96e-7	47

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)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• pHI: 0.164

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.161

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prr9

Gene ontology

• Biological process: peptide cross-linking;keratinocyte differentiation
• Cellular component: cornified envelope;cytoplasm
• Molecular function: structural molecule activity