AK8

adenylate kinase 8, the group of Adenylate kinases

Basic information

Region (hg38): 9:132725577-132878777

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.

• Inborn genetic diseases (29 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.

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			25	4		29
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	25	4	0

Variants in AK8

This is a list of pathogenic ClinVar variants found in the AK8 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
9-132725722-C-T		not specified	Uncertain significance (Jun 11, 2021)
9-132725913-C-A		not specified	Uncertain significance (Oct 06, 2022)
9-132727512-A-G		not specified	Likely benign (Jul 25, 2023)
9-132792641-G-T		not specified	Uncertain significance (Jun 24, 2022)
9-132792655-C-T		not specified	Uncertain significance (Dec 22, 2023)
9-132792677-C-T		not specified	Uncertain significance (Jul 13, 2022)
9-132792685-C-T		not specified	Uncertain significance (Nov 18, 2023)
9-132792695-C-T		not specified	Uncertain significance (Nov 23, 2021)
9-132792698-G-A		not specified	Uncertain significance (Dec 20, 2023)
9-132792724-T-C		not specified	Uncertain significance (Mar 07, 2023)
9-132792732-G-T		not specified	Uncertain significance (Dec 27, 2023)
9-132792767-T-C		not specified	Uncertain significance (Oct 30, 2023)
9-132792775-A-G		not specified	Uncertain significance (Jun 13, 2023)
9-132814658-A-C		not specified	Uncertain significance (Feb 26, 2024)
9-132823252-T-C		not specified	Uncertain significance (Jul 25, 2023)
9-132823267-G-A		not specified	Uncertain significance (Sep 01, 2021)
9-132823301-C-T		not specified	Uncertain significance (Dec 19, 2023)
9-132826866-C-T		not specified	Uncertain significance (Feb 10, 2023)
9-132826877-G-T		not specified	Uncertain significance (Oct 20, 2023)
9-132826920-G-A		not specified	Uncertain significance (May 16, 2023)
9-132826955-A-T		not specified	Uncertain significance (Feb 01, 2023)
9-132826967-G-A		not specified	Uncertain significance (Dec 11, 2023)
9-132827004-G-A		not specified	Uncertain significance (Sep 26, 2023)
9-132827022-C-T		not specified	Uncertain significance (Jun 22, 2021)
9-132828028-C-T		not specified	Uncertain significance (May 05, 2023)

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

• 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