PRR35

proline rich 35

Basic information

Region (hg38): 16:560394-565529

Previous symbols: [ "C16orf11" ]

Links

ENSG00000161992 ∙ NCBI:146325 ∙ ∙ HGNC:14139 ∙ Uniprot:P0CG20 ∙ 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 PRR35 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRR35 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			67	7		74
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	67	7	0

Variants in PRR35

This is a list of pathogenic ClinVar variants found in the PRR35 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-563301-C-T		not specified	Uncertain significance (Sep 17, 2021)
16-563304-G-A		not specified	Uncertain significance (Jul 17, 2023)
16-563343-C-T		not specified	Uncertain significance (Jun 02, 2023)
16-563350-G-A		not specified	Uncertain significance (Jun 01, 2023)
16-563355-C-T		not specified	Uncertain significance (Jan 20, 2023)
16-563520-T-C		not specified	Uncertain significance (Nov 08, 2021)
16-563523-C-T		not specified	Uncertain significance (Jun 21, 2021)
16-563524-G-A		not specified	Uncertain significance (Nov 21, 2024)
16-563539-C-G		not specified	Uncertain significance (Feb 15, 2023)
16-563539-C-T		not specified	Uncertain significance (Nov 12, 2021)
16-563569-G-A		not specified	Uncertain significance (May 08, 2024)
16-563586-C-T		not specified	Uncertain significance (May 20, 2024)
16-563589-G-A		not specified	Uncertain significance (Jan 23, 2023)
16-563611-G-A		not specified	Likely benign (Jun 27, 2022)
16-563613-C-T		not specified	Uncertain significance (Mar 06, 2023)
16-563631-G-A		not specified	Likely benign (Feb 27, 2023)
16-563632-C-T		not specified	Uncertain significance (Sep 20, 2023)
16-563676-G-A		not specified	Likely benign (Jul 20, 2021)
16-563683-C-T		not specified	Uncertain significance (Dec 11, 2023)
16-563739-C-T		not specified	Uncertain significance (Jul 06, 2022)
16-563746-G-A		not specified	Uncertain significance (Aug 10, 2021)
16-563761-G-A		not specified	Uncertain significance (Nov 24, 2024)
16-563785-C-T		not specified	Likely benign (Sep 10, 2024)
16-563811-G-A		not specified	Uncertain significance (Jan 29, 2025)
16-563875-C-T		not specified	Uncertain significance (Aug 04, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRR35	protein_coding	protein_coding	ENST00000409413	2	5107

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0212	0.914	124104	0	14	124118	0.0000564

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.719	293	330	0.889	0.0000212	3470
Missense in Polyphen		65	98.229	0.66172		1151
Synonymous	-0.104	163	161	1.01	0.0000114	1332
Loss of Function	1.57	4	9.12	0.439	4.54e-7	116

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000908	0.0000908
Ashkenazi Jewish	0.000200	0.000200
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000619	0.0000535
Middle Eastern	0.00	0.00
South Asian	0.000103	0.0000981
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.180

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: A930017K11Rik