MOK

MOK protein kinase

Basic information

Region (hg38): 14:102224500-102305190

Previous symbols: [ "RAGE" ]

Links

ENSG00000080823 ∙ NCBI:5891 ∙ OMIM:605762 ∙ HGNC:9833 ∙ Uniprot:Q9UQ07 ∙ 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 MOK gene.

• not_specified (66 variants)
• not_provided (2 variants)
• Mucopolysaccharidosis,_MPS-III-D (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MOK gene is commonly pathogenic or not. These statistics are base on transcript: NM_000014226.3. 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			63	3	1	67
nonsense						0
start loss						0
frameshift			1			1
splice donor/acceptor (+/-2bp)						0
Total	0	0	64	4	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MOK	protein_coding	protein_coding	ENST00000361847	12	80701

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.84e-22	0.000140	100657	981	24110	125748	0.105

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.333	232	247	0.940	0.0000144	2728
Missense in Polyphen		68	87.766	0.77478		999
Synonymous	-0.448	110	104	1.06	0.00000710	796
Loss of Function	-1.05	29	23.5	1.23	0.00000120	287

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.229	0.227
Ashkenazi Jewish	0.0968	0.0923
East Asian	0.0247	0.0240
Finnish	0.110	0.108
European (Non-Finnish)	0.121	0.117
Middle Eastern	0.0247	0.0240
South Asian	0.158	0.139
Other	0.115	0.108

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Able to phosphorylate several exogenous substrates and to undergo autophosphorylation. Negatively regulates cilium length in a cAMP and mTORC1 signaling-dependent manner. {ECO:0000250|UniProtKB:Q9WVS4}.

Intolerance Scores

• rvis_EVS: 1.02
• rvis_percentile_EVS: 91.05

Haploinsufficiency Scores

• pHI: 0.144
• hipred: N
• hipred_score: 0.167
• ghis: 0.460

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Mok

Gene ontology

• Biological process: protein phosphorylation;signal transduction;regulation of gene expression;intracellular signal transduction;regulation of cell cycle
• Cellular component: nucleus;cytoplasm;cilium;ciliary base
• Molecular function: protein kinase activity;protein serine/threonine kinase activity;cyclin-dependent protein serine/threonine kinase activity;ATP binding;metal ion binding