ADCK1

aarF domain containing kinase 1

Basic information

Region (hg38): 14:77800109-77935014

Links

ENSG00000063761NCBI:57143HGNC:19038Uniprot:Q86TW2AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADCK1 gene.

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.

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
29
clinvar
1
clinvar
30
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 29 1 0

Variants in ADCK1

This is a list of pathogenic ClinVar variants found in the ADCK1 region.

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

Position Type Phenotype Significance ClinVar
14-77819069-C-T not specified Uncertain significance (Oct 26, 2021)2256814
14-77822454-A-G not specified Uncertain significance (Jan 30, 2024)3080749
14-77822459-C-T not specified Uncertain significance (Jun 07, 2023)2559139
14-77822513-T-C not specified Uncertain significance (May 30, 2024)3269018
14-77859124-C-T not specified Uncertain significance (Jan 03, 2024)3080752
14-77859233-G-T not specified Uncertain significance (Sep 26, 2023)3080757
14-77859236-T-C not specified Uncertain significance (Jan 06, 2023)2473864
14-77887093-C-G not specified Uncertain significance (Jan 24, 2024)3080767
14-77887190-G-A not specified Uncertain significance (Mar 01, 2024)3080771
14-77887215-G-A not specified Likely benign (May 31, 2023)2558353
14-77887244-A-G not specified Uncertain significance (Oct 12, 2021)2376402
14-77899106-G-A not specified Likely benign (Apr 20, 2024)3269008
14-77899173-A-G not specified Uncertain significance (Jan 16, 2024)3080781
14-77899242-A-G not specified Uncertain significance (Jul 13, 2021)2218378
14-77907803-G-T not specified Uncertain significance (May 20, 2024)3268989
14-77907858-T-C not specified Uncertain significance (May 29, 2024)2377296
14-77907876-A-G not specified Uncertain significance (Aug 08, 2023)2616871
14-77924511-G-A not specified Uncertain significance (Feb 11, 2022)2218825
14-77924520-G-A not specified Uncertain significance (Dec 28, 2022)2365444
14-77924547-C-T not specified Uncertain significance (Aug 02, 2021)2341748
14-77924563-C-T not specified Uncertain significance (Sep 14, 2022)2379475
14-77924569-A-C not specified Uncertain significance (Oct 31, 2022)2209648
14-77925771-C-T not specified Uncertain significance (Dec 28, 2022)2339792
14-77925839-A-G not specified Uncertain significance (Jan 04, 2022)2297245
14-77925855-G-A not specified Uncertain significance (Dec 06, 2023)3080726

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ADCK1protein_codingprotein_codingENST00000238561 10134930
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
9.48e-150.037512564001081257480.000430
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.3053403251.050.00002033435
Missense in Polyphen116112.351.03251157
Synonymous0.2041331360.9780.000008931031
Loss of Function0.4422325.40.9050.00000143278

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.001460.00146
Ashkenazi Jewish0.000.00
East Asian0.0004350.000435
Finnish0.0001410.000139
European (Non-Finnish)0.0002570.000255
Middle Eastern0.0004350.000435
South Asian0.0009490.000948
Other0.0003260.000326

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Adck1
Phenotype

Gene ontology

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