ALDH9A1
aldehyde dehydrogenase 9 family member A1, the group of Aldehyde dehydrogenases
Basic information
Region (hg38): 1:165662216-165698562
Previous symbols: [ "ALDH7", "ALDH4", "ALDH9" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (58 variants)
- not_provided (3 variants)
- Prostate_cancer (1 variants)
- ALDH9A1*2_POLYMORPHISM (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ALDH9A1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000696.4. 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 | 2 | |||||
| missense | 59 | 61 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 59 | 4 | 0 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ALDH9A1 | protein_coding | protein_coding | ENST00000354775 | 11 | 36648 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.10e-11 | 0.296 | 125619 | 0 | 129 | 125748 | 0.000513 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.416 | 312 | 292 | 1.07 | 0.0000144 | 3352 |
| Missense in Polyphen | 117 | 110.34 | 1.0603 | 1297 | ||
| Synonymous | -0.856 | 119 | 108 | 1.10 | 0.00000563 | 1029 |
| Loss of Function | 1.01 | 20 | 25.5 | 0.783 | 0.00000141 | 297 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000392 | 0.000388 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000403 | 0.000381 |
| Finnish | 0.00147 | 0.00143 |
| European (Non-Finnish) | 0.000698 | 0.000668 |
| Middle Eastern | 0.000403 | 0.000381 |
| South Asian | 0.000105 | 0.0000980 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Converts gamma-trimethylaminobutyraldehyde into gamma- butyrobetaine. Catalyzes the irreversible oxidation of a broad range of aldehydes to the corresponding acids in an NAD-dependent reaction. {ECO:0000269|PubMed:10702312}.;
- Pathway
- Tryptophan metabolism - Homo sapiens (human);Pyruvate metabolism - Homo sapiens (human);Arginine and proline metabolism - Homo sapiens (human);Glycolysis / Gluconeogenesis - Homo sapiens (human);Glycerolipid metabolism - Homo sapiens (human);beta-Alanine metabolism - Homo sapiens (human);Lysine degradation - Homo sapiens (human);Histidine metabolism - Homo sapiens (human);Fatty acid degradation - Homo sapiens (human);Ascorbate and aldarate metabolism - Homo sapiens (human);Valine, leucine and isoleucine degradation - Homo sapiens (human);Carnitine Synthesis;GABA receptor Signaling;Tryptophan metabolism;Branched-chain amino acid catabolism;Glutamate Glutamine metabolism;Metabolism of amino acids and derivatives;Tyrosine metabolism;Glycolysis and Gluconeogenesis;Leukotriene metabolism;Metabolism;Lysine degradation;Propanoate metabolism;Histidine metabolism;Lysine metabolism;Urea cycle and metabolism of arginine, proline, glutamate, aspartate and asparagine;Valine, leucine and isoleucine degradation;Bile acid biosynthesis;Glycerophospholipid metabolism;Arginine Proline metabolism;Carnitine synthesis;Pyruvate metabolism;Tryptophan degradation;L-carnitine biosynthesis;Valine Leucine Isoleucine degradation;Histidine degradation;Validated targets of C-MYC transcriptional repression
(Consensus)
Recessive Scores
- pRec
- 0.247
Intolerance Scores
- loftool
- 0.405
- rvis_EVS
- -0.02
- rvis_percentile_EVS
- 52.15
Haploinsufficiency Scores
- pHI
- 0.0437
- hipred
- N
- hipred_score
- 0.289
- ghis
- 0.468
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.536
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Aldh9a1
- Phenotype
- integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);
Gene ontology
- Biological process
- cellular aldehyde metabolic process;neurotransmitter biosynthetic process;hormone metabolic process;carnitine biosynthetic process;oxidation-reduction process
- Cellular component
- cytoplasm;cytosol;extracellular exosome
- Molecular function
- 3-chloroallyl aldehyde dehydrogenase activity;aldehyde dehydrogenase (NAD) activity;aminobutyraldehyde dehydrogenase activity;1-pyrroline dehydrogenase activity;glyceraldehyde-3-phosphate dehydrogenase (NAD+) (non-phosphorylating) activity;4-trimethylammoniobutyraldehyde dehydrogenase activity