ADCK1
Basic information
Region (hg38): 14:77800109-77935014
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | 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) | ||
14-77822454-A-G | not specified | Uncertain significance (Jan 30, 2024) | ||
14-77822459-C-T | not specified | Uncertain significance (Jun 07, 2023) | ||
14-77822513-T-C | not specified | Uncertain significance (May 30, 2024) | ||
14-77859124-C-T | not specified | Uncertain significance (Jan 03, 2024) | ||
14-77859233-G-T | not specified | Uncertain significance (Sep 26, 2023) | ||
14-77859236-T-C | not specified | Uncertain significance (Jan 06, 2023) | ||
14-77887093-C-G | not specified | Uncertain significance (Jan 24, 2024) | ||
14-77887190-G-A | not specified | Uncertain significance (Mar 01, 2024) | ||
14-77887215-G-A | not specified | Likely benign (May 31, 2023) | ||
14-77887244-A-G | not specified | Uncertain significance (Oct 12, 2021) | ||
14-77899106-G-A | not specified | Likely benign (Apr 20, 2024) | ||
14-77899173-A-G | not specified | Uncertain significance (Jan 16, 2024) | ||
14-77899242-A-G | not specified | Uncertain significance (Jul 13, 2021) | ||
14-77907803-G-T | not specified | Uncertain significance (May 20, 2024) | ||
14-77907858-T-C | not specified | Uncertain significance (May 29, 2024) | ||
14-77907876-A-G | not specified | Uncertain significance (Aug 08, 2023) | ||
14-77924511-G-A | not specified | Uncertain significance (Feb 11, 2022) | ||
14-77924520-G-A | not specified | Uncertain significance (Dec 28, 2022) | ||
14-77924547-C-T | not specified | Uncertain significance (Aug 02, 2021) | ||
14-77924563-C-T | not specified | Uncertain significance (Sep 14, 2022) | ||
14-77924569-A-C | not specified | Uncertain significance (Oct 31, 2022) | ||
14-77925771-C-T | not specified | Uncertain significance (Dec 28, 2022) | ||
14-77925839-A-G | not specified | Uncertain significance (Jan 04, 2022) | ||
14-77925855-G-A | not specified | Uncertain significance (Dec 06, 2023) |
GnomAD
Source:
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:
- 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
- Phenotype
Gene ontology
- Biological process
- protein phosphorylation
- Cellular component
- extracellular region
- Molecular function
- protein serine/threonine kinase activity;protein binding;ATP binding