AK7

adenylate kinase 7, the group of Adenylate kinases|Cilia and flagella associated

Basic information

Region (hg38): 14:96392127-96489427

Links

ENSG00000140057 ∙ NCBI:122481 ∙ OMIM:615364 ∙ HGNC:20091 ∙ Uniprot:Q96M32 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• spermatogenic failure 27 (Limited), mode of inheritance: AR
• non-syndromic male infertility due to sperm motility disorder (Supportive), mode of inheritance: AR
• primary ciliary dyskinesia (Limited), mode of inheritance: AR
• spermatogenic failure 27 (Limited), mode of inheritance: AR
• primary ciliary dyskinesia (Disputed Evidence), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Spermatogenic failure 27	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Genitourinary	29365104

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the AK7 gene.

• not provided (213 variants)
• Inborn genetic diseases (27 variants)
• not specified (4 variants)
• Spermatogenic failure 27 (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AK7 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			1	47	9	57
missense			91	6	5	102
nonsense			3			3
start loss						0
frameshift			1			1
inframe indel			4			4
splice donor/acceptor (+/-2bp)			3			3
splice region			4	5	2	11
non coding			2	37	10	49
Total	0	0	105	90	24

Variants in AK7

This is a list of pathogenic ClinVar variants found in the AK7 region.

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

Position	Type	Phenotype	Significance	ClinVar
14-96392161-G-A			Uncertain significance (Oct 24, 2023)
14-96392176-G-C			Uncertain significance (Oct 20, 2023)
14-96392179-G-C			Uncertain significance (Apr 14, 2023)
14-96392184-C-G			Likely benign (Jul 12, 2021)
14-96392184-C-T			Likely benign (Jun 07, 2022)
14-96392187-G-C			Likely benign (Aug 09, 2022)
14-96392198-T-C			Uncertain significance (Aug 03, 2021)
14-96392205-C-A			Benign (Jan 25, 2024)
14-96392208-G-A			Likely benign (Aug 24, 2022)
14-96392214-G-T			Likely benign (Aug 06, 2022)
14-96392236-T-A			Uncertain significance (Dec 09, 2023)
14-96392253-C-A			Likely benign (Dec 31, 2023)
14-96392254-G-A			Uncertain significance (Jul 13, 2022)
14-96392259-G-A			Uncertain significance (Jan 22, 2024)
14-96392262-G-GAGCGGC			Benign (Oct 10, 2022)
14-96392268-C-T			Likely benign (Dec 20, 2022)
14-96392269-G-T			Likely benign (Jan 08, 2023)
14-96392275-G-A			Likely benign (Dec 26, 2022)
14-96392275-G-T			Likely benign (Jun 15, 2022)
14-96398061-C-G			Likely benign (Dec 25, 2023)
14-96398068-C-A			Uncertain significance (Mar 18, 2023)
14-96398104-G-A			Likely benign (Jun 06, 2023)
14-96398104-G-C			Likely benign (Nov 07, 2023)
14-96398118-CAGAGGA-C			Uncertain significance (Jan 25, 2024)
14-96398118-CAGAGGAAGAGGA-C			Uncertain significance (Jan 26, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AK7	protein_coding	protein_coding	ENST00000267584	18	97317

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.06e-13	0.970	125624	0	124	125748	0.000493

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.487	377	405	0.932	0.0000221	4778
Missense in Polyphen		93	115.49	0.80529		1423
Synonymous	0.763	142	154	0.922	0.00000923	1317
Loss of Function	2.33	27	43.6	0.619	0.00000254	500

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000730	0.000722
Ashkenazi Jewish	0.000412	0.000397
East Asian	0.00152	0.00152
Finnish	0.00116	0.00116
European (Non-Finnish)	0.000296	0.000290
Middle Eastern	0.00152	0.00152
South Asian	0.000493	0.000490
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. Involved in maintaining ciliary structure and function. {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: 0.160

Intolerance Scores

• loftool: 0.514
• rvis_EVS: -0.24
• rvis_percentile_EVS: 36.28

Haploinsufficiency Scores

• pHI: 0.166
• hipred: N
• hipred_score: 0.462
• ghis: 0.518

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0413

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ak7
• Phenotype: cellular phenotype; craniofacial phenotype; growth/size/body region phenotype; respiratory system phenotype; immune system 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); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype

Gene ontology

• Biological process: nucleoside diphosphate phosphorylation;nucleoside triphosphate biosynthetic process;nucleobase-containing small molecule interconversion;cell projection organization;nucleoside monophosphate phosphorylation
• Cellular component: cytosol;motile cilium
• Molecular function: adenylate kinase activity;cytidylate kinase activity;nucleoside diphosphate kinase activity;ATP binding;nucleoside kinase activity