AKR1B15

aldo-keto reductase family 1 member B15, the group of Aldo-keto reductases

Basic information

Region (hg38): 7:134549110-134579875

Links

ENSG00000227471 ∙ NCBI:441282 ∙ OMIM:616336 ∙ HGNC:37281 ∙ Uniprot:C9JRZ8 ∙ 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 AKR1B15 gene.

• not_specified (53 variants)
• not_provided (4 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKR1B15 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001080538.3. 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					2	2
missense			49	5		54
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	49	5	2

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
AKR1B15	protein_coding	protein_coding	ENST00000457545	10	30740

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.68e-22	0.0000225	125658	1	84	125743	0.000338

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.933	218	183	1.19	0.00000924	2278
Missense in Polyphen		62	61.66	1.0055		848
Synonymous	-0.418	72	67.6	1.06	0.00000365	611
Loss of Function	-2.17	27	17.3	1.56	7.28e-7	224

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000508	0.000508
Ashkenazi Jewish	0.00	0.00
East Asian	0.00104	0.00103
Finnish	0.00	0.00
European (Non-Finnish)	0.000335	0.000325
Middle Eastern	0.00104	0.00103
South Asian	0.000523	0.000490
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Isoform 1: Mainly acts as a reductive enzyme that catalyzes the reduction of androgens and estrogens with high positional selectivity (shows 17-beta-hydroxysteroid dehydrogenase activity) as well as 3-keto-acyl-CoAs. Has a strong selectivity towards NADP(H) (PubMed:25577493). {ECO:0000269|PubMed:21276782, ECO:0000269|PubMed:25577493}.
• Pathway: Metabolism of lipids;Metabolism;Estrogen biosynthesis;Metabolism of steroid hormones;Metabolism of steroids;Steroid hormones (Consensus)

Intolerance Scores

• loftool: 0.894
• rvis_EVS: 0.02
• rvis_percentile_EVS: 55.69

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.112
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Akr1b8
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: estrogen biosynthetic process;oxidation-reduction process
• Cellular component: mitochondrion;mitochondrial matrix;cytosol
• Molecular function: alditol:NADP+ 1-oxidoreductase activity;estradiol 17-beta-dehydrogenase activity;alcohol dehydrogenase (NADP+) activity;oxidoreductase activity