DYRK4

dual specificity tyrosine phosphorylation regulated kinase 4

Basic information

Region (hg38): 12:4562207-4615302

Links

ENSG00000010219 ∙ NCBI:8798 ∙ OMIM:609181 ∙ HGNC:3095 ∙ Uniprot:Q9NR20 ∙ 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 DYRK4 gene.

• Inborn genetic diseases (18 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DYRK4 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			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	0

Variants in DYRK4

This is a list of pathogenic ClinVar variants found in the DYRK4 region.

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

Position	Type	Phenotype	Significance	ClinVar
12-4591185-C-T		not specified	Likely benign (Oct 24, 2023)
12-4591275-A-C		not specified	Uncertain significance (May 09, 2023)
12-4591293-C-T		not specified	Uncertain significance (Jul 05, 2022)
12-4593095-A-G		not specified	Uncertain significance (Nov 13, 2023)
12-4593110-C-G		not specified	Uncertain significance (Sep 01, 2021)
12-4596254-G-C		not specified	Uncertain significance (Jul 06, 2021)
12-4596255-T-G		not specified	Uncertain significance (Nov 09, 2021)
12-4596629-G-A		not specified	Uncertain significance (Aug 12, 2021)
12-4596657-C-A		not specified	Uncertain significance (Sep 01, 2021)
12-4599032-A-G		not specified	Uncertain significance (Aug 02, 2023)
12-4599161-A-C		not specified	Uncertain significance (Oct 03, 2023)
12-4599725-C-A		not specified	Uncertain significance (Dec 14, 2021)
12-4599767-A-G		not specified	Uncertain significance (Mar 16, 2022)
12-4604925-A-T		not specified	Uncertain significance (Jan 23, 2024)
12-4604931-A-T		not specified	Uncertain significance (Sep 14, 2022)
12-4607360-A-G		not specified	Uncertain significance (Dec 13, 2023)
12-4610197-A-C		not specified	Uncertain significance (Sep 20, 2023)
12-4610232-G-A		not specified	Uncertain significance (Jan 29, 2024)
12-4610245-A-G		not specified	Uncertain significance (Jul 09, 2021)
12-4610266-T-C		not specified	Uncertain significance (Jan 06, 2023)
12-4612543-A-G		not specified	Likely benign (Jan 12, 2024)
12-4612586-C-A		not specified	Uncertain significance (Jun 11, 2021)
12-4612608-G-A		not specified	Uncertain significance (Jun 22, 2021)
12-4612614-T-C		not specified	Uncertain significance (Aug 13, 2021)
12-4613670-G-A		not specified	Uncertain significance (Aug 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DYRK4	protein_coding	protein_coding	ENST00000540757	11	51956

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.78e-18	0.00173	125537	1	210	125748	0.000839

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.251	295	283	1.04	0.0000146	3440
Missense in Polyphen		111	101.76	1.0908		1268
Synonymous	0.723	104	114	0.914	0.00000646	960
Loss of Function	-0.396	26	23.9	1.09	0.00000111	293

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00197	0.00195
Ashkenazi Jewish	0.00	0.00
East Asian	0.000667	0.000653
Finnish	0.000139	0.000139
European (Non-Finnish)	0.000266	0.000264
Middle Eastern	0.000667	0.000653
South Asian	0.00424	0.00416
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Possible non-essential role in spermiogenesis. {ECO:0000250}.
• Pathway: EGFR1 (Consensus)

Recessive Scores

• pRec: 0.0759

Intolerance Scores

• loftool: 0.943
• rvis_EVS: 0.0000761
• rvis_percentile_EVS: 53.98

Haploinsufficiency Scores

• pHI: 0.0640
• hipred: N
• hipred_score: 0.144
• ghis: 0.470

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.434

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dyrk4

Gene ontology

• Biological process: peptidyl-tyrosine phosphorylation
• Cellular component: nucleus;cytoplasm;intracellular membrane-bounded organelle
• Molecular function: protein serine/threonine kinase activity;protein serine/threonine/tyrosine kinase activity;protein tyrosine kinase activity;protein binding;ATP binding;metal ion binding