PRB2

proline rich protein BstNI subfamily 2, the group of Proline rich proteins

Basic information

Region (hg38): 12:11391540-11501041

Links

ENSG00000121335 ∙ NCBI:653247 ∙ OMIM:168810 ∙ HGNC:9338 ∙ Uniprot:P02812 ∙ 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 PRB2 gene.

• not_specified (116 variants)
• not_provided (6 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRB2 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000006248.4. 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				5		5
missense			112	4		116
nonsense			1			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	113	9	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRB2	protein_coding	protein_coding	ENST00000389362	3	109500

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.30e-8	0.0161	125709	0	31	125740	0.000123

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-3.90	378	217	1.75	0.0000100	2522
Missense in Polyphen
Synonymous	-3.97	117	73.7	1.59	0.00000317	964
Loss of Function	-2.54	9	3.71	2.42	1.57e-7	44

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000181	0.000177
Ashkenazi Jewish	0.000893	0.000893
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.00	0.00
South Asian	0.0000655	0.0000653
Other	0.000491	0.000489

dbNSFP

Source: dbNSFP

• Pathway: Salivary secretion - Homo sapiens (human) (Consensus)

Intolerance Scores

• loftool: 0.954
• rvis_EVS: 1.93
• rvis_percentile_EVS: 97.48

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.401

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0934

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prb1

Gene ontology

• Biological process: biological_process
• Cellular component: cellular_component;extracellular region
• Molecular function: molecular_function