RSKR

ribosomal protein S6 kinase related

Basic information

Region (hg38): 17:28455752-28614197

Links

ENSG00000167524 ∙ NCBI:124923 ∙ ∙ HGNC:26314 ∙ Uniprot:Q96LW2 ∙ 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 RSKR gene.

• not_specified (72 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RSKR gene is commonly pathogenic or not. These statistics are base on transcript: NM_001174103.2. 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			67	5		72
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	67	5	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RSKR	protein_coding	protein_coding	ENST00000301037	12	6237

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.28e-10	0.681	124651	16	1081	125748	0.00437

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.269	220	232	0.950	0.0000126	2660
Missense in Polyphen		75	76.21	0.98413		980
Synonymous	0.441	81	86.2	0.940	0.00000449	819
Loss of Function	1.41	18	25.7	0.701	0.00000144	254

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00134	0.00133
Ashkenazi Jewish	0.00133	0.00129
East Asian	0.000221	0.000217
Finnish	0.0316	0.0254
European (Non-Finnish)	0.00417	0.00410
Middle Eastern	0.000221	0.000217
South Asian	0.000350	0.000327
Other	0.00534	0.00506

dbNSFP

Source: dbNSFP

Haploinsufficiency Scores

• ghis: 0.483

Essentials

• essential_gene_gene_trap: N

Mouse Genome Informatics

• Gene name: BC030499