NRK

Nik related kinase

Basic information

Region (hg38): X:105822539-105958610

Links

ENSG00000123572 ∙ NCBI:203447 ∙ OMIM:300791 ∙ HGNC:25391 ∙ Uniprot:Q7Z2Y5 ∙ 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 NRK gene.

• not_specified (150 variants)
• not_provided (17 variants)
• NRK-related_condition (2 variants)
• Autism (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the NRK gene is commonly pathogenic or not. These statistics are base on transcript: NM_000198465.4. 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			16	8	2	26
missense			204	10	4	218
nonsense			14			14
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			24			24
Total	0	0	258	18	6

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
NRK	protein_coding	protein_coding	ENST00000428173	29	136067

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.993	0.00726	124606	7	6	124619	0.0000522

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.660	481	524	0.919	0.0000385	10260
Missense in Polyphen		142	176.76	0.80334		3614
Synonymous	0.892	174	190	0.918	0.0000136	3026
Loss of Function	5.70	9	54.4	0.165	0.00000437	990

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000733	0.0000733
Ashkenazi Jewish	0.000145	0.0000994
East Asian	0.000152	0.000111
Finnish	0.000136	0.0000928
European (Non-Finnish)	0.0000507	0.0000354
Middle Eastern	0.000152	0.000111
South Asian	0.000108	0.0000654
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May phosphorylate cofilin-1 and induce actin polymerization through this process, during the late stages of embryogenesis. Involved in the TNF-alpha-induced signaling pathway (By similarity). {ECO:0000250}.
• Pathway: NAD+ metabolism;TNF receptor signaling pathway (Consensus)

Recessive Scores

• pRec: 0.312

Haploinsufficiency Scores

• pHI: 0.326
• hipred: N
• hipred_score: 0.313
• ghis: 0.387

Essentials

• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0872

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Nrk
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; embryo phenotype

Gene ontology

• Biological process: MAPK cascade;activation of JNKK activity;parturition;negative regulation of cell population proliferation;signal transduction by protein phosphorylation;stress-activated protein kinase signaling cascade;actin cytoskeleton reorganization;activation of protein kinase activity;neuron projection morphogenesis;regulation of spongiotrophoblast cell proliferation
• Cellular component: cytoplasm
• Molecular function: protein serine/threonine kinase activity;ATP binding