AZIN1
Basic information
Region (hg38): 8:102826111-102893864
Previous symbols: [ "OAZIN" ]
Links
Phenotypes
GenCC
Source:
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 AZIN1 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 | |||||
| missense | 10 | 10 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 10 | 1 | 0 |
Variants in AZIN1
This is a list of pathogenic ClinVar variants found in the AZIN1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 8-102829327-C-G | not specified | Uncertain significance (Dec 22, 2023) | ||
| 8-102829336-C-G | not specified | Uncertain significance (Feb 14, 2023) | ||
| 8-102829386-T-C | not specified | Uncertain significance (Mar 30, 2024) | ||
| 8-102829459-T-C | not specified | Uncertain significance (Mar 30, 2024) | ||
| 8-102829482-T-C | not specified | Uncertain significance (Aug 13, 2021) | ||
| 8-102829863-A-C | not specified | Uncertain significance (Aug 12, 2021) | ||
| 8-102829918-T-C | not specified | Uncertain significance (Jan 19, 2022) | ||
| 8-102834214-G-A | not specified | Uncertain significance (Sep 29, 2023) | ||
| 8-102836295-T-C | not specified | Uncertain significance (Nov 12, 2021) | ||
| 8-102838862-T-C | not specified | Uncertain significance (Jul 14, 2021) | ||
| 8-102838873-T-C | not specified | Uncertain significance (Nov 18, 2022) | ||
| 8-102839749-C-T | Benign/Likely benign (Nov 01, 2021) | |||
| 8-102839822-G-A | not specified | Uncertain significance (Oct 06, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AZIN1 | protein_coding | protein_coding | ENST00000337198 | 10 | 67508 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.995 | 0.00515 | 125683 | 0 | 2 | 125685 | 0.00000796 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.80 | 155 | 232 | 0.667 | 0.0000108 | 2993 |
| Missense in Polyphen | 38 | 84.101 | 0.45184 | 1086 | ||
| Synonymous | -0.0101 | 81 | 80.9 | 1.00 | 0.00000410 | 802 |
| Loss of Function | 3.94 | 1 | 20.0 | 0.0499 | 9.07e-7 | 273 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00 | 0.00 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000177 | 0.0000176 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Antizyme inhibitor (AZI) protein that positively regulates ornithine decarboxylase (ODC) activity and polyamine uptake. AZI is an enzymatically inactive ODC homolog that counteracts the negative effect of ODC antizymes (AZs) OAZ1, OAZ2 and OAZ3 on ODC activity by competing with ODC for antizyme- binding (PubMed:17900240, PubMed:26305948). Inhibits antizyme- dependent ODC degradation and releases ODC monomers from their inactive complex with antizymes, leading to formation of the catalytically active ODC homodimer and restoring polyamine production (PubMed:17900240). {ECO:0000269|PubMed:17900240, ECO:0000269|PubMed:26305948}.;
- Pathway
- Exercise-induced Circadian Regulation;Regulation of ornithine decarboxylase (ODC);Metabolism of polyamines;Metabolism of amino acids and derivatives;Metabolism
(Consensus)
Recessive Scores
- pRec
- 0.115
Intolerance Scores
- loftool
- rvis_EVS
- -0.36
- rvis_percentile_EVS
- 28.93
Haploinsufficiency Scores
- pHI
- 0.691
- hipred
- Y
- hipred_score
- 0.654
- ghis
- 0.637
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- H
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.835
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Azin1
- Phenotype
- growth/size/body region phenotype; liver/biliary system phenotype; 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);
Gene ontology
- Biological process
- regulation of cellular amino acid metabolic process;putrescine biosynthetic process from ornithine;negative regulation of protein catabolic process;positive regulation of catalytic activity;positive regulation of polyamine transmembrane transport
- Cellular component
- nucleus;cytoplasm;cytosol
- Molecular function
- ornithine decarboxylase activity;protein binding;ornithine decarboxylase activator activity