AK3
Basic information
Region (hg38): 9:4709556-4742043
Previous symbols: [ "AK6", "AK3L1" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (41 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AK3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016282.4. 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 | 41 | 41 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 41 | 0 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AK3 | protein_coding | protein_coding | ENST00000381809 | 5 | 30889 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.000113 | 0.619 | 125718 | 0 | 30 | 125748 | 0.000119 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -1.97 | 185 | 124 | 1.50 | 0.00000647 | 1443 |
| Missense in Polyphen | 46 | 40.86 | 1.1258 | 445 | ||
| Synonymous | -1.55 | 64 | 50.1 | 1.28 | 0.00000261 | 465 |
| Loss of Function | 0.728 | 7 | 9.41 | 0.744 | 4.84e-7 | 108 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000579 | 0.000579 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.0000462 | 0.0000462 |
| European (Non-Finnish) | 0.000112 | 0.000105 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.000163 | 0.000163 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in maintaining the homeostasis of cellular nucleotides by catalyzing the interconversion of nucleoside phosphates. Has GTP:AMP phosphotransferase and ITP:AMP phosphotransferase activities. {ECO:0000255|HAMAP-Rule:MF_03169, ECO:0000269|PubMed:11485571}.;
- Pathway
- Purine metabolism - Homo sapiens (human);Pyrimidine Metabolism;UMP Synthase Deiciency (Orotic Aciduria);MNGIE (Mitochondrial Neurogastrointestinal Encephalopathy);Beta Ureidopropionase Deficiency;Dihydropyrimidinase Deficiency;adenosine ribonucleotides <i>de novo</i> biosynthesis;Factors involved in megakaryocyte development and platelet production;Purine metabolism;Pyrimidine metabolism;Hemostasis;superpathway of purine nucleotide salvage;Pyrimidine nucleotides nucleosides metabolism;purine nucleotides <i>de novo</i> biosynthesis
(Consensus)
Recessive Scores
- pRec
- 0.132
Intolerance Scores
- loftool
- 0.739
- rvis_EVS
- 0.06
- rvis_percentile_EVS
- 58.74
Haploinsufficiency Scores
- pHI
- 0.416
- hipred
- N
- hipred_score
- 0.350
- ghis
- 0.486
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.126
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ak3
- Phenotype
Zebrafish Information Network
- Gene name
- ak3
- Affected structure
- myeloid cell development
- Phenotype tag
- abnormal
- Phenotype quality
- absent
Gene ontology
- Biological process
- ADP biosynthetic process;blood coagulation;phosphorylation;AMP metabolic process;GTP metabolic process;ITP metabolic process;UTP metabolic process;nucleoside monophosphate phosphorylation
- Cellular component
- mitochondrion;mitochondrial matrix
- Molecular function
- adenylate kinase activity;protein binding;ATP binding;GTP binding;nucleoside triphosphate adenylate kinase activity