ADH6

alcohol dehydrogenase 6 (class V), the group of Alcohol dehydrogenases

Basic information

Region (hg38): 4:99202638-99219537

Links

ENSG00000172955 ∙ NCBI:130 ∙ OMIM:103735 ∙ HGNC:255 ∙ Uniprot:P28332 ∙ 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 ADH6 gene.

• not_specified (44 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADH6 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001102470.2. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			42	2		44
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	42	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADH6	protein_coding	protein_coding	ENST00000394899	9	16900

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000164	0.665	125657	0	89	125746	0.000354

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.595	174	198	0.881	0.00000940	2434
Missense in Polyphen		64	70.171	0.91206		880
Synonymous	0.135	69	70.4	0.980	0.00000347	735
Loss of Function	1.06	11	15.5	0.709	6.52e-7	219

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00351	0.00345
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000890	0.0000879
Middle Eastern	0.00	0.00
South Asian	0.000382	0.000359
Other	0.000167	0.000163

dbNSFP

Source: dbNSFP

• 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;Phase I - Functionalization of compounds;Ethanol oxidation;Biological oxidations;Metabolism;serotonin degradation;superpathway of tryptophan utilization;Tyrosine metabolism;noradrenaline and adrenaline degradation (Consensus)

Recessive Scores

• pRec: 0.0911

Intolerance Scores

• rvis_EVS: -0.32
• rvis_percentile_EVS: 31.69

Haploinsufficiency Scores

• pHI: 0.0751
• hipred: N
• hipred_score: 0.112
• ghis: 0.427

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.124

Gene Damage Prediction

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

Gene ontology

• Biological process: ethanol oxidation;retinol metabolic process;retinoic acid metabolic process;response to ethanol
• Cellular component: cytosol;extracellular exosome
• Molecular function: alcohol dehydrogenase (NAD) activity;alcohol dehydrogenase activity, zinc-dependent;retinol dehydrogenase activity;zinc ion binding