ADHFE1

alcohol dehydrogenase iron containing 1, the group of Alcohol dehydrogenases

Basic information

Region (hg38): 8:66432491-66468907

Links

ENSG00000147576 ∙ NCBI:137872 ∙ OMIM:611083 ∙ HGNC:16354 ∙ Uniprot:Q8IWW8 ∙ 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 ADHFE1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ADHFE1 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						0
missense			21	1		22
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	22	1	0

Variants in ADHFE1

This is a list of pathogenic ClinVar variants found in the ADHFE1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
8-66432533-G-A		not specified	Uncertain significance (Jun 13, 2024)
8-66432541-G-C		not specified	Uncertain significance (Jun 03, 2022)
8-66440191-A-G		not specified	Uncertain significance (Feb 11, 2022)
8-66444700-T-C		not specified	Uncertain significance (Jan 06, 2023)
8-66445271-C-A		not specified	Uncertain significance (Jan 03, 2024)
8-66445403-C-T		not specified	Uncertain significance (Dec 20, 2021)
8-66447269-A-G		not specified	Uncertain significance (Oct 25, 2022)
8-66447339-T-A		not specified	Uncertain significance (Sep 17, 2021)
8-66448897-G-A		not specified	Uncertain significance (Jan 03, 2024)
8-66448927-A-C		not specified	Uncertain significance (May 14, 2024)
8-66448937-G-A		not specified	Likely benign (Jun 21, 2022)
8-66451970-A-G		not specified	Uncertain significance (Sep 17, 2021)
8-66451994-G-A		not specified	Uncertain significance (Sep 16, 2021)
8-66452024-G-A		not specified	Uncertain significance (Sep 14, 2022)
8-66454063-G-T		not specified	Uncertain significance (May 02, 2024)
8-66454139-A-T		not specified	Uncertain significance (Sep 14, 2022)
8-66454144-G-A		not specified	Uncertain significance (May 13, 2024)
8-66456830-T-TA			Uncertain significance (Aug 01, 2018)
8-66457073-C-T		not specified	Uncertain significance (Apr 12, 2023)
8-66457085-G-A		not specified	Uncertain significance (Jun 29, 2023)
8-66457104-C-T		not specified	Uncertain significance (Dec 13, 2021)
8-66457115-T-C		not specified	Uncertain significance (Nov 28, 2023)
8-66457121-G-A		not specified	Uncertain significance (Jun 23, 2023)
8-66460319-C-T		not specified	Uncertain significance (Feb 28, 2023)
8-66460464-A-T		not specified	Uncertain significance (Jan 23, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ADHFE1	protein_coding	protein_coding	ENST00000396623	14	41417

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
8.52e-9	0.730	125161	14	573	125748	0.00234

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.0612	265	262	1.01	0.0000139	2994
Missense in Polyphen		78	79.912	0.97608		856
Synonymous	0.442	100	106	0.945	0.00000621	974
Loss of Function	1.39	16	23.3	0.688	0.00000116	286

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00106	0.00105
Ashkenazi Jewish	0.000397	0.000397
East Asian	0.000381	0.000381
Finnish	0.00	0.00
European (Non-Finnish)	0.000424	0.000422
Middle Eastern	0.000381	0.000381
South Asian	0.0165	0.0162
Other	0.00130	0.00130

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the cofactor-independent reversible oxidation of gamma-hydroxybutyrate (GHB) to succinic semialdehyde (SSA) coupled to reduction of 2-ketoglutarate (2-KG) to D-2- hydroxyglutarate (D-2-HG). D,L-3-hydroxyisobutyrate and L-3- hydroxybutyrate (L-3-OHB) are also substrates for HOT with 10-fold lower activities. {ECO:0000269|PubMed:16435184}.
• Pathway: Interconversion of 2-oxoglutarate and 2-hydroxyglutarate;Pyruvate metabolism and Citric Acid (TCA) cycle;The citric acid (TCA) cycle and respiratory electron transport;Glycolysis and Gluconeogenesis;Leukotriene metabolism;Metabolism;Tryptophan metabolism;Bile acid biosynthesis;Glycerophospholipid metabolism;Tyrosine metabolism (Consensus)

Recessive Scores

• pRec: 0.594

Intolerance Scores

• loftool: 0.649
• rvis_EVS: -0.45
• rvis_percentile_EVS: 24.33

Haploinsufficiency Scores

• pHI: 0.243
• hipred: N
• hipred_score: 0.237
• ghis: 0.504

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0293

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Adhfe1

Gene ontology

• Biological process: 2-oxoglutarate metabolic process;glutamate catabolic process via 2-oxoglutarate;oxidation-reduction process
• Cellular component: mitochondrion;mitochondrial matrix
• Molecular function: alcohol dehydrogenase (NAD) activity;metal ion binding;hydroxyacid-oxoacid transhydrogenase activity