DCAKD

dephospho-CoA kinase domain containing

Basic information

Region (hg38): 17:45023338-45061131

Links

ENSG00000172992 ∙ NCBI:79877 ∙ ∙ HGNC:26238 ∙ Uniprot:Q8WVC6 ∙ 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 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			40	1		41
nonsense						0
start loss						0
frameshift				1		1
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DCAKD	protein_coding	protein_coding	ENST00000452796	4	37766

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0649	0.877	124370	3	1375	125748	0.00549

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.333	155	167	0.927	0.0000120	1480
Missense in Polyphen		51	62.674	0.81373		581
Synonymous	-0.0806	68	67.2	1.01	0.00000432	500
Loss of Function	1.60	3	7.82	0.384	3.32e-7	93

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00996	0.00997
Ashkenazi Jewish	0.0133	0.0133
East Asian	0.000871	0.000816
Finnish	0.00731	0.00733
European (Non-Finnish)	0.00624	0.00623
Middle Eastern	0.000871	0.000816
South Asian	0.00124	0.00124
Other	0.00685	0.00670

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

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

Mouse Genome Informatics

• Gene name: Dcakd

Gene ontology

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