PRKRIP1

PRKR interacting protein 1

Basic information

Region (hg38): 7:102363871-102426676

Links

ENSG00000128563 ∙ NCBI:79706 ∙ OMIM:617458 ∙ HGNC:21894 ∙ Uniprot:Q9H875 ∙ 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 PRKRIP1 gene.

• Inborn genetic diseases (5 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the PRKRIP1 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			5			5
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	0	0

Variants in PRKRIP1

This is a list of pathogenic ClinVar variants found in the PRKRIP1 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-102396425-C-T		not specified	Uncertain significance (Jan 29, 2024)
7-102396433-T-G		not specified	Uncertain significance (Dec 06, 2022)
7-102396484-A-C		not specified	Uncertain significance (Feb 06, 2023)
7-102396508-C-G		not specified	Uncertain significance (Dec 17, 2023)
7-102396526-A-G		not specified	Uncertain significance (Aug 04, 2023)
7-102404674-G-A		not specified	Uncertain significance (Jan 04, 2024)
7-102404680-A-G		not specified	Uncertain significance (Nov 21, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
PRKRIP1	protein_coding	protein_coding	ENST00000496391	6	62805

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.23e-11	0.0193	125711	0	37	125748	0.000147

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.285	100	108	0.923	0.00000624	1189
Missense in Polyphen		17	28.762	0.59105		293
Synonymous	-0.540	43	38.7	1.11	0.00000214	331
Loss of Function	-0.608	15	12.7	1.18	7.72e-7	134

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000324	0.000307
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000173	0.000167
Middle Eastern	0.000163	0.000163
South Asian	0.000230	0.000229
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Binds double-stranded RNA. Inhibits EIF2AK2 kinase activity (By similarity). {ECO:0000250}.

Intolerance Scores

• loftool: 0.747
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.56

Haploinsufficiency Scores

• pHI: 0.130
• hipred: N
• hipred_score: 0.216
• ghis: 0.553

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: H
• gene_indispensability_pred: E
• gene_indispensability_score: 0.706

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Prkrip1

Gene ontology

• Biological process: renal system process;negative regulation of protein kinase activity;negative regulation of phosphorylation
• Cellular component: nucleolus;extracellular exosome
• Molecular function: double-stranded RNA binding;protein kinase inhibitor activity;protein binding;protein kinase binding