PRR13

proline rich 13

Basic information

Region (hg38): 12:53441678-53446645

Links

ENSG00000205352 ∙ NCBI:54458 ∙ OMIM:610459 ∙ HGNC:24528 ∙ Uniprot:Q9NZ81 ∙ 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 PRR13 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR13 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			7			7
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	7	0	0

Variants in PRR13

This is a list of pathogenic ClinVar variants found in the PRR13 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-53443424-T-C		not specified	Uncertain significance (Jan 20, 2023)
12-53443459-C-T		not specified	Uncertain significance (Jan 18, 2023)
12-53443474-C-T		not specified	Uncertain significance (Sep 13, 2023)
12-53443555-C-T		not specified	Uncertain significance (Jul 30, 2024)
12-53443567-C-T		not specified	Uncertain significance (Jan 22, 2025)
12-53443682-T-C		not specified	Uncertain significance (Feb 06, 2024)
12-53443763-A-C		not specified	Uncertain significance (Jun 29, 2023)
12-53443765-C-A		not specified	Uncertain significance (Oct 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRR13	protein_coding	protein_coding	ENST00000429243	3	5041

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0136	0.685	125741	0	7	125748	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.407	76	66.7	1.14	0.00000310	962
Missense in Polyphen
Synonymous	0.706	19	23.3	0.814	0.00000117	303
Loss of Function	0.580	3	4.30	0.698	1.81e-7	63

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000352	0.0000352
Middle Eastern	0.00	0.00
South Asian	0.0000330	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Negatively regulates TSP1 expression at the level of transcription. This down-regulation was shown to reduce taxane- induced apoptosis. {ECO:0000269|PubMed:16847352}.

Recessive Scores

• pRec: 0.0948

Intolerance Scores

• loftool: 0.560
• rvis_EVS: 0.08
• rvis_percentile_EVS: 59.43

Haploinsufficiency Scores

• pHI: 0.0445
• hipred: N
• hipred_score: 0.210
• ghis: 0.613

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.373

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prr13

Gene ontology

• Cellular component: nucleoplasm;cytosol
• Molecular function: protein binding