ADH7
alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide, the group of Alcohol dehydrogenases
Basic information
Region (hg38): 4:99412261-99435510
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (59 variants)
- ADH7-related_disorder (10 variants)
- not_provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADH7 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000673.7. 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 | 3 | |||||
| missense | 59 | 64 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 60 | 6 | 1 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| ADH7 | protein_coding | protein_coding | ENST00000476959 | 9 | 23477 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.51e-11 | 0.0295 | 125700 | 0 | 47 | 125747 | 0.000187 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.613 | 245 | 219 | 1.12 | 0.0000110 | 2566 |
| Missense in Polyphen | 89 | 74.546 | 1.1939 | 895 | ||
| Synonymous | 0.630 | 70 | 77.0 | 0.909 | 0.00000395 | 781 |
| Loss of Function | -0.263 | 16 | 14.9 | 1.07 | 6.20e-7 | 216 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000609 | 0.000608 |
| Ashkenazi Jewish | 0.00120 | 0.00119 |
| East Asian | 0.000218 | 0.000217 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000442 | 0.0000439 |
| Middle Eastern | 0.000218 | 0.000217 |
| South Asian | 0.000399 | 0.000392 |
| Other | 0.000329 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Could function in retinol oxidation for the synthesis of retinoic acid, a hormone important for cellular differentiation. Medium-chain (octanol) and aromatic (m-nitrobenzaldehyde) compounds are the best substrates. Ethanol is not a good substrate but at the high ethanol concentrations reached in the digestive tract, it plays a role in the ethanol oxidation and contributes to the first pass ethanol metabolism.;
- Pathway
- Retinol metabolism - Homo sapiens (human);Glycolysis / Gluconeogenesis - Homo sapiens (human);Fatty acid degradation - Homo sapiens (human);Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Drug metabolism - cytochrome P450 - Homo sapiens (human);Chemical carcinogenesis - Homo sapiens (human);Tyrosine metabolism - Homo sapiens (human);Cyclophosphamide Pathway, Pharmacodynamics;Ifosfamide Pathway, Pharmacodynamics;Fatty Acid Omega Oxidation;Nuclear Receptors Meta-Pathway;NRF2 pathway;Amino Acid metabolism;Phase I - Functionalization of compounds;Ethanol oxidation;Biological oxidations;Metabolism;Tyrosine metabolism
(Consensus)
Recessive Scores
- pRec
- 0.267
Intolerance Scores
- loftool
- 0.972
- rvis_EVS
- 0.22
- rvis_percentile_EVS
- 68.38
Haploinsufficiency Scores
- pHI
- 0.134
- hipred
- N
- hipred_score
- 0.155
- ghis
- 0.399
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.184
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Adh7
- 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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); taste/olfaction phenotype; growth/size/body region phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- retinoid metabolic process;ethanol catabolic process;ethanol oxidation;response to bacterium;fatty acid omega-oxidation;retinol metabolic process;retinoic acid metabolic process;response to ethanol;oxidation-reduction process;extracellular negative regulation of signal transduction
- Cellular component
- extracellular region;cytosol;plasma membrane
- Molecular function
- alcohol dehydrogenase (NAD) activity;alcohol dehydrogenase activity, zinc-dependent;aldehyde oxidase activity;retinol dehydrogenase activity;zinc ion binding;retinol binding;ethanol binding;receptor antagonist activity