DCAKD

dephospho-CoA kinase domain containing

Basic information

Region (hg38): 17:45023338-45061131

Links

ENSG00000172992NCBI:79877HGNC:26238Uniprot:Q8WVC6AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

  • not_specified (41 variants)
  • not_provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DCAKD gene is commonly pathogenic or not. These statistics are base on transcript: NM_001288655.2. 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.

EffectPLPVUSLBBSum
synonymous
0
missense
40
clinvar
1
clinvar
41
nonsense
0
start loss
0
frameshift
1
clinvar
1
splice donor/acceptor (+/-2bp)
0
Total 0 0 40 2 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
DCAKDprotein_codingprotein_codingENST00000452796 437766
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.06490.877124370313751257480.00549
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.3331551670.9270.00001201480
Missense in Polyphen5162.6740.81373581
Synonymous-0.08066867.21.010.00000432500
Loss of Function1.6037.820.3843.32e-793

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.009960.00997
Ashkenazi Jewish0.01330.0133
East Asian0.0008710.000816
Finnish0.007310.00733
European (Non-Finnish)0.006240.00623
Middle Eastern0.0008710.000816
South Asian0.001240.00124
Other0.006850.00670

dbNSFP

Source: dbNSFP

Recessive Scores

pRec
0.144

Intolerance Scores

loftool
0.903
rvis_EVS
0.24
rvis_percentile_EVS
69.37

Haploinsufficiency Scores

pHI
0.227
hipred
N
hipred_score
0.398
ghis
0.542

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.866

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Dcakd
Phenotype

Gene ontology

Biological process
coenzyme A biosynthetic process;phosphorylation
Cellular component
membrane
Molecular function
dephospho-CoA kinase activity;ATP binding