ADCK1

aarF domain containing kinase 1

Basic information

Region (hg38): 14:77800109-77935014

Links

ENSG00000063761 ∙ NCBI:57143 ∙ ∙ HGNC:19038 ∙ Uniprot:Q86TW2 ∙ 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 ADCK1 gene.

• not_specified (74 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADCK1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020421.4. 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				1		1
missense			70	3		73
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	70	4	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADCK1	protein_coding	protein_coding	ENST00000238561	10	134930

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
9.48e-15	0.0375	125640	0	108	125748	0.000430

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.305	340	325	1.05	0.0000203	3435
Missense in Polyphen		116	112.35	1.0325		1157
Synonymous	0.204	133	136	0.978	0.00000893	1031
Loss of Function	0.442	23	25.4	0.905	0.00000143	278

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00146	0.00146
Ashkenazi Jewish	0.00	0.00
East Asian	0.000435	0.000435
Finnish	0.000141	0.000139
European (Non-Finnish)	0.000257	0.000255
Middle Eastern	0.000435	0.000435
South Asian	0.000949	0.000948
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: The function of this protein is not yet clear. It is not known if it has protein kinase activity and what type of substrate it would phosphorylate (Ser, Thr or Tyr).

Recessive Scores

• pRec: 0.134

Intolerance Scores

• loftool: 0.895
• rvis_EVS: -1.15
• rvis_percentile_EVS: 6.27

Haploinsufficiency Scores

• pHI: 0.150
• hipred: N
• hipred_score: 0.466
• ghis: 0.559

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.735

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adck1

Gene ontology

• Biological process: protein phosphorylation
• Cellular component: extracellular region
• Molecular function: protein serine/threonine kinase activity;protein binding;ATP binding