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.

• not_specified (107 variants)

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. These statistics are base on transcript: NM_000145270.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			94	13		107
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	94	13	0

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