PRRC1

proline rich coiled-coil 1

Basic information

Region (hg38): 5:127517617-127555085

Links

ENSG00000164244 ∙ NCBI:133619 ∙ ∙ HGNC:28164 ∙ Uniprot:Q96M27 ∙ 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 PRRC1 gene.

• not_specified (73 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRRC1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000130809.5. 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				1		1
missense			68	4		72
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	68	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRRC1	protein_coding	protein_coding	ENST00000296666	8	37481

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.09e-12	0.0341	125629	0	119	125748	0.000473

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0175	246	247	0.997	0.0000124	2821
Missense in Polyphen		60	76.214	0.78726		901
Synonymous	0.795	77	86.4	0.891	0.00000417	997
Loss of Function	0.0105	18	18.0	0.997	9.16e-7	212

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00210	0.00210
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000468	0.000466
Middle Eastern	0.00	0.00
South Asian	0.000230	0.000229
Other	0.000991	0.000978

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0856

Intolerance Scores

• loftool: 0.256
• rvis_EVS: -0.91
• rvis_percentile_EVS: 9.96

Haploinsufficiency Scores

• pHI: 0.119
• hipred: N
• hipred_score: 0.204
• ghis: 0.650

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.501

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prrc1

Zebrafish Information Network

• Gene name: prrc1
• Affected structure: cell
• Phenotype tag: abnormal
• Phenotype quality: decreased amount

Gene ontology

• Biological process: activation of protein kinase A activity
• Cellular component: cytoplasm;Golgi apparatus
• Molecular function: protein binding;protein kinase A regulatory subunit binding