PRR36

proline rich 36

Basic information

Region (hg38): 19:7868719-7874390

Links

ENSG00000183248 ∙ NCBI:80164 ∙ ∙ HGNC:26172 ∙ Uniprot:Q9H6K5 ∙ 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 PRR36 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR36 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				4		4
missense			69	3		72
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	69	7	0

Variants in PRR36

This is a list of pathogenic ClinVar variants found in the PRR36 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-7869077-G-A		not specified	Uncertain significance (May 31, 2022)
19-7869248-C-T		not specified	Uncertain significance (Dec 01, 2022)
19-7869325-C-T		not specified	Uncertain significance (Aug 07, 2024)
19-7869359-G-C		not specified	Uncertain significance (Aug 22, 2023)
19-7869796-G-T		not specified	Uncertain significance (Oct 02, 2023)
19-7869804-G-A		not specified	Uncertain significance (Sep 26, 2024)
19-7869804-G-C		not specified	Uncertain significance (Apr 07, 2022)
19-7869825-G-C		not specified	Uncertain significance (May 20, 2024)
19-7869981-G-A		not specified	Uncertain significance (Nov 30, 2022)
19-7870041-G-A		not specified	Uncertain significance (May 13, 2024)
19-7870111-G-C		not specified	Uncertain significance (Jan 26, 2022)
19-7870171-G-A		not specified	Uncertain significance (Dec 08, 2023)
19-7870225-G-A		not specified	Uncertain significance (Apr 01, 2024)
19-7870235-C-G		not specified	Uncertain significance (Feb 14, 2023)
19-7870277-C-A		not specified	Uncertain significance (Feb 03, 2022)
19-7870296-A-T		not specified	Uncertain significance (Aug 17, 2021)
19-7870350-G-A		not specified	Uncertain significance (Nov 17, 2022)
19-7870364-T-C			Likely benign (Apr 01, 2022)
19-7870401-G-A		not specified	Uncertain significance (Jan 03, 2024)
19-7870471-G-A		not specified	Uncertain significance (Jan 10, 2023)
19-7870528-G-A		not specified	Uncertain significance (Nov 26, 2024)
19-7870588-G-A		not specified	Uncertain significance (Sep 26, 2022)
19-7870621-G-C		not specified	Uncertain significance (May 09, 2023)
19-7870681-G-A		not specified	Uncertain significance (Sep 22, 2023)
19-7870707-G-A		not specified	Uncertain significance (Nov 08, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRR36	protein_coding	protein_coding	ENST00000539422	5	5722

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.144	0.855	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.878	436	491	0.888	0.0000262	8063
Missense in Polyphen		36	49.348	0.72951		1182
Synonymous	1.45	193	220	0.876	0.0000121	3542
Loss of Function	2.95	5	18.8	0.265	0.00000106	267

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

• ghis: 0.505

Mouse Genome Informatics

• Gene name: Prr36