ADH1A

alcohol dehydrogenase 1A (class I), alpha polypeptide, the group of Alcohol dehydrogenases

Basic information

Region (hg38): 4:99276369-99291003

Previous symbols: [ "ADH1" ]

Links

ENSG00000187758

∙ NCBI:124 ∙ OMIM:103700 ∙ HGNC:249 ∙ Uniprot:P07327 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ADH1A gene.

not_specified (42 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADH1A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000000667.4. 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				1 clinvar		1
missense			40 clinvar	1 clinvar		41
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	40	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADH1A	protein_coding	protein_coding	ENST00000209668	9	14662

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.71e-11	0.0317	125585	0	163	125748	0.000648

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.00663	211	211	0.999	0.0000107	2459
Missense in Polyphen		87	80.673	1.0784		937
Synonymous	-0.0526	77	76.4	1.01	0.00000410	747
Loss of Function	-0.229	16	15.0	1.06	6.33e-7	213

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00155	0.00149
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000915	0.000906
Middle Eastern	0.000163	0.000163
South Asian	0.000163	0.000163
Other	0.000326	0.000326

dbNSFP

Source: dbNSFP

Pathway: Celecoxib Pathway, Pharmacokinetics;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);Abacavir Pathway, Pharmacokinetics/Pharmacodynamics;Cyclophosphamide Pathway, Pharmacodynamics;Ifosfamide Pathway, Pharmacodynamics;Tyrosinemia, transient, of the newborn;Dopamine beta-hydroxylase deficiency;Disulfiram Action Pathway;Tyrosine Metabolism;Alkaptonuria;Celecoxib Action Pathway;Monoamine oxidase-a deficiency (MAO-A);Hawkinsinuria;Tyrosinemia Type I;Felbamate Metabolism Pathway;Vitamin A Deficiency;Celecoxib Metabolism Pathway;Retinol Metabolism;Fatty Acid Omega Oxidation;Ethanol effects on histone modifications;Vitamin A and Carotenoid Metabolism;Signal Transduction;Phase I - Functionalization of compounds;RA biosynthesis pathway;Ethanol oxidation;Biological oxidations;Abacavir metabolism;Abacavir transport and metabolism;Metabolism;Signaling by Retinoic Acid;Signaling by Nuclear Receptors;Tyrosine metabolism (Consensus)

Intolerance Scores

loftool: 0.895
rvis_EVS: -0.45
rvis_percentile_EVS: 24

Haploinsufficiency Scores

pHI
hipred: N
hipred_score: 0.112
ghis: 0.513

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.227

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Adh1
Phenotype: growth/size/body region phenotype; homeostasis/metabolism 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: alcohol metabolic process;ethanol oxidation;drug metabolic process;retinol metabolic process;retinoic acid metabolic process
Cellular component: nucleoplasm;cytosol;plasma membrane
Molecular function: alcohol dehydrogenase (NAD) activity;alcohol dehydrogenase activity, zinc-dependent;retinol dehydrogenase activity;protein binding;zinc ion binding