AK9
Basic information
Region (hg38): 6:109492855-109691217
Previous symbols: [ "C6orf224", "AKD2", "C6orf199", "AKD1" ]
Links
Phenotypes
GenCC
Source:
- postsynaptic congenital myasthenic syndrome (Supportive), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Spermatogenic failure 89 | 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 | 37713809 |
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (169 variants)
- not_provided (18 variants)
- Spermatogenic_failure_89 (4 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AK9 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001145128.3. 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 | 8 | |||||
missense | 160 | 173 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 2 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 3 | 0 | 160 | 12 | 8 |
Highest pathogenic variant AF is 7.14596e-7
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
AK9 | protein_coding | protein_coding | ENST00000424296 | 40 | 198362 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
3.69e-26 | 1.00 | 125607 | 0 | 141 | 125748 | 0.000561 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.19 | 725 | 911 | 0.795 | 0.0000445 | 12605 |
Missense in Polyphen | 259 | 308.46 | 0.83965 | 4256 | ||
Synonymous | 2.34 | 254 | 306 | 0.830 | 0.0000152 | 3325 |
Loss of Function | 3.71 | 57 | 96.3 | 0.592 | 0.00000453 | 1418 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.00134 | 0.00134 |
Ashkenazi Jewish | 0.00129 | 0.00129 |
East Asian | 0.000283 | 0.000272 |
Finnish | 0.000237 | 0.000231 |
European (Non-Finnish) | 0.000501 | 0.000492 |
Middle Eastern | 0.000283 | 0.000272 |
South Asian | 0.000673 | 0.000621 |
Other | 0.00102 | 0.000978 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Has both nucleoside monophosphate and diphosphate kinase activities. Catalyzes the phosphorylation of AMP, dAMP, CMP and dCMP with ATP as phosphate donor and of CMP with GTP as phosphate donor. Also catalyzes the production of ATP, CTP, GTP, UTP, dATP, dCTP, dGTP and TTP from the corresponding diphosphate substrates with either ATP or GTP as phosphate donor. Shows substrate preference of CDP > UDP > ADP > GDP > TDP. {ECO:0000269|PubMed:23416111}.;
- Pathway
- Pyrimidine metabolism - Homo sapiens (human);Purine metabolism - Homo sapiens (human);Metabolism of nucleotides;Interconversion of nucleotide di- and triphosphates;Metabolism
(Consensus)
Recessive Scores
- pRec
- 0.0711
Intolerance Scores
- loftool
- rvis_EVS
- 1.72
- rvis_percentile_EVS
- 96.5
Haploinsufficiency Scores
- pHI
- 0.207
- hipred
- N
- hipred_score
- 0.195
- ghis
- 0.472
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- gene_indispensability_score
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | High | High | High |
Primary Immunodeficiency | High | High | High |
Cancer | High | High | High |
Mouse Genome Informatics
- Gene name
- Ak9
- Phenotype
Zebrafish Information Network
- Gene name
- ak9
- Affected structure
- otolith
- Phenotype tag
- abnormal
- Phenotype quality
- morphology
Gene ontology
- Biological process
- dADP phosphorylation;dGDP phosphorylation;AMP phosphorylation;ATP generation from ADP;nucleobase-containing small molecule interconversion;CDP phosphorylation;dAMP phosphorylation;CMP phosphorylation;dCMP phosphorylation;GDP phosphorylation;UDP phosphorylation;dCDP phosphorylation;TDP phosphorylation
- Cellular component
- nucleus;nucleoplasm;cytoplasm;cytosol;nuclear membrane
- Molecular function
- nucleoside diphosphate kinase activity;ATP binding;nucleoside kinase activity;nucleoside monophosphate kinase activity