AKR7A3

aldo-keto reductase family 7 member A3, the group of Aldo-keto reductases

Basic information

Region (hg38): 1:19282572-19288770

Links

ENSG00000162482 ∙ NCBI:22977 ∙ OMIM:608477 ∙ HGNC:390 ∙ Uniprot:O95154 ∙ 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 AKR7A3 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKR7A3 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				1		1
missense			29	3	1	33
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				1	1	2
non coding						0
Total	0	0	29	4	1

Variants in AKR7A3

This is a list of pathogenic ClinVar variants found in the AKR7A3 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-19282736-G-A		not specified	Uncertain significance (Dec 26, 2023)
1-19282768-T-C			Benign (Mar 01, 2018)
1-19282775-C-A		not specified	Uncertain significance (Nov 29, 2021)
1-19282787-C-T		not specified	Uncertain significance (Sep 15, 2021)
1-19282813-C-T		not specified	Uncertain significance (Feb 01, 2023)
1-19282839-C-G		not specified	Uncertain significance (Feb 05, 2024)
1-19282883-C-G		not specified	Uncertain significance (Apr 26, 2023)
1-19284022-A-T		not specified	Uncertain significance (Jan 26, 2023)
1-19284031-T-C		not specified	Likely benign (Aug 15, 2023)
1-19284042-A-G		not specified	Uncertain significance (Dec 15, 2022)
1-19284067-C-T		not specified	Uncertain significance (May 09, 2022)
1-19284687-G-A		not specified	Uncertain significance (Sep 17, 2021)
1-19284696-A-G		not specified	Uncertain significance (May 01, 2023)
1-19284732-C-T		not specified	Uncertain significance (Apr 19, 2024)
1-19284759-A-G		not specified	Uncertain significance (Jan 27, 2022)
1-19284771-C-T		not specified	Uncertain significance (Apr 25, 2022)
1-19284773-G-A		not specified	Uncertain significance (Aug 12, 2021)
1-19285032-A-T		not specified	Likely benign (Jul 13, 2022)
1-19285093-G-A		not specified	Uncertain significance (Apr 12, 2022)
1-19285111-T-A		not specified	Uncertain significance (Mar 17, 2023)
1-19285901-G-T		not specified	Uncertain significance (Jun 17, 2024)
1-19285914-C-T		not specified	Uncertain significance (Jul 25, 2023)
1-19285921-C-G		not specified	Uncertain significance (Oct 16, 2023)
1-19285934-C-T		not specified	Uncertain significance (May 11, 2022)
1-19285938-T-A		not specified	Uncertain significance (Jan 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKR7A3	protein_coding	protein_coding	ENST00000361640	7	6693

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.02e-19	0.0000867	125617	0	131	125748	0.000521

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.166	217	210	1.03	0.0000131	2132
Missense in Polyphen		59	52.461	1.1246		596
Synonymous	-1.64	112	92.0	1.22	0.00000604	664
Loss of Function	-2.01	24	15.5	1.55	7.48e-7	166

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00159	0.00159
Ashkenazi Jewish	0.00	0.00
East Asian	0.000382	0.000326
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000221	0.000220
Middle Eastern	0.000382	0.000326
South Asian	0.00196	0.00196
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Can reduce the dialdehyde protein-binding form of aflatoxin B1 (AFB1) to the non-binding AFB1 dialcohol. May be involved in protection of liver against the toxic and carcinogenic effects of AFB1, a potent hepatocarcinogen. {ECO:0000269|PubMed:18416522}.
• Pathway: Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Aflatoxin B1 metabolism;Metapathway biotransformation Phase I and II;Biological oxidations;Metabolism;Aflatoxin activation and detoxification (Consensus)

Recessive Scores

• pRec: 0.114

Intolerance Scores

• loftool: 0.935
• rvis_EVS: 1.89
• rvis_percentile_EVS: 97.3

Haploinsufficiency Scores

• pHI: 0.177
• hipred: N
• hipred_score: 0.131

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.729

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Akr7a5

Gene ontology

• Biological process: cellular aldehyde metabolic process;xenobiotic metabolic process;electron transport chain;aflatoxin catabolic process
• Cellular component: cytosol;extracellular exosome
• Molecular function: alditol:NADP+ 1-oxidoreductase activity;aldo-keto reductase (NADP) activity;protein binding;electron transfer activity;identical protein binding