AK7
Basic information
Region (hg38): 14:96392128-96489427
Links
Phenotypes
GenCC
Source:
- 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:
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
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 | 68 | 78 | ||||
missense | 148 | 160 | ||||
nonsense | 7 | |||||
start loss | 0 | |||||
frameshift | 2 | |||||
inframe indel | 5 | |||||
splice donor/acceptor (+/-2bp) | 7 | |||||
splice region | 10 | 7 | 3 | 20 | ||
non coding | 59 | 10 | 71 | |||
Total | 0 | 0 | 172 | 134 | 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 (Apr 30, 2024) | |||
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 (Mar 16, 2024) | |||
14-96392187-G-C | Likely benign (Aug 09, 2022) | |||
14-96392198-T-C | Uncertain significance (Aug 03, 2021) | |||
14-96392205-C-A | Benign (Feb 02, 2025) | |||
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 (Nov 19, 2024) | |||
14-96392268-C-T | Likely benign (Dec 20, 2022) | |||
14-96392269-G-T | Likely benign (Nov 24, 2024) | |||
14-96392275-G-A | Likely benign (Dec 26, 2022) | |||
14-96392275-G-T | Likely benign (Jun 15, 2022) | |||
14-96392277-C-T | Likely benign (Jul 27, 2024) | |||
14-96398061-C-G | Likely benign (Dec 25, 2023) | |||
14-96398068-C-A | Uncertain significance (Mar 18, 2023) | |||
14-96398104-G-A | Likely benign (Apr 03, 2024) | |||
14-96398104-G-C | Likely benign (Nov 07, 2023) | |||
14-96398118-CAGAGGA-C | Uncertain significance (Jan 25, 2024) |
GnomAD
Source:
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:
- 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