AK8

adenylate kinase 8, the group of Adenylate kinases

Basic information

Region (hg38): 9:132725578-132878777

Previous symbols: [ "C9orf98" ]

Links

ENSG00000165695

∙ NCBI:158067 ∙ OMIM:615365 ∙ HGNC:26526 ∙ Uniprot:Q96MA6 ∙ 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 AK8 gene.

not_specified (70 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AK8 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152572.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			66 clinvar	4 clinvar		70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	66	4	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AK8	protein_coding	protein_coding	ENST00000298545	13	153200

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.01e-11	0.227	125655	0	93	125748	0.000370

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.714	240	273	0.878	0.0000155	3135
Missense in Polyphen		100	113.43	0.88162		1246
Synonymous	0.130	111	113	0.984	0.00000709	905
Loss of Function	0.848	19	23.4	0.811	9.98e-7	286

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000915	0.000859
Ashkenazi Jewish	0.00	0.00
East Asian	0.000603	0.000598
Finnish	0.00	0.00
European (Non-Finnish)	0.000477	0.000475
Middle Eastern	0.000603	0.000598
South Asian	0.000375	0.000359
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Nucleoside monophosphate (NMP) kinase that catalyzes the reversible transfer of the terminal phosphate group between nucleoside triphosphates and monophosphates. Has highest activity toward AMP, and weaker activity toward dAMP, CMP and dCMP. Also displays broad nucleoside diphosphate kinase activity. {ECO:0000269|PubMed:21080915, ECO:0000269|PubMed:23416111}.;
Pathway: Purine metabolism - Homo sapiens (human);Thiamine metabolism - Homo sapiens (human);adenosine ribonucleotides <i>de novo</i> biosynthesis;Metabolism of nucleotides;Interconversion of nucleotide di- and triphosphates;Metabolism;superpathway of purine nucleotide salvage;purine nucleotides <i>de novo</i> biosynthesis (Consensus)

Recessive Scores

pRec: 0.159

Intolerance Scores

loftool
rvis_EVS: 0.07
rvis_percentile_EVS: 59.04

Haploinsufficiency Scores

pHI: 0.139
hipred: N
hipred_score: 0.197
ghis: 0.504

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Ak8
Phenotype: nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan);

Gene ontology

Biological process: nucleoside diphosphate phosphorylation;nucleoside triphosphate biosynthetic process;nucleobase-containing small molecule interconversion;ventricular system development;nucleoside monophosphate phosphorylation
Cellular component: cytosol;axoneme;sperm flagellum
Molecular function: adenylate kinase activity;cytidylate kinase activity;nucleoside diphosphate kinase activity;protein binding;ATP binding;nucleoside kinase activity