ADCK5

aarF domain containing kinase 5

Basic information

Region (hg38): 8:144373101-144393242

Links

ENSG00000173137 ∙ NCBI:203054 ∙ ∙ HGNC:21738 ∙ Uniprot:Q3MIX3 ∙ 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 ADCK5 gene.

• not_specified (81 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADCK5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000174922.5. 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				2		2
missense			74	5		79
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	74	7	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADCK5	protein_coding	protein_coding	ENST00000308860	15	21668

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00437	0.995	125567	0	22	125589	0.0000876

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.18	250	368	0.680	0.0000254	3664
Missense in Polyphen		46	113.55	0.4051		1163
Synonymous	-0.135	165	163	1.01	0.0000117	1197
Loss of Function	3.18	9	26.7	0.337	0.00000131	291

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000151	0.000151
Ashkenazi Jewish	0.000100	0.0000994
East Asian	0.0000579	0.0000544
Finnish	0.0000931	0.0000924
European (Non-Finnish)	0.000105	0.0000969
Middle Eastern	0.0000579	0.0000544
South Asian	0.0000691	0.0000653
Other	0.000164	0.000163

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: 0.111

Intolerance Scores

• loftool: 0.342
• rvis_EVS: 0
• rvis_percentile_EVS: 53.73

Haploinsufficiency Scores

• pHI: 0.171
• hipred: Y
• hipred_score: 0.662
• ghis: 0.518

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.942

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adck5

Gene ontology

• Biological process: protein phosphorylation
• Cellular component: integral component of membrane
• Molecular function: protein serine/threonine kinase activity;protein binding