AKR1B1
aldo-keto reductase family 1 member B, the group of Aldo-keto reductases
Basic information
Region (hg38): 7:134442356-134459284
Previous symbols: [ "ALDR1" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKR1B1 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 | 7 | |||||
| missense | 10 | 10 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 10 | 4 | 3 |
Variants in AKR1B1
This is a list of pathogenic ClinVar variants found in the AKR1B1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 7-134442743-G-A | Likely benign (Dec 31, 2019) | |||
| 7-134445282-G-A | Likely benign (Apr 07, 2018) | |||
| 7-134447320-T-C | not specified | Uncertain significance (May 27, 2022) | ||
| 7-134447336-T-C | not specified | Uncertain significance (Aug 17, 2021) | ||
| 7-134448001-C-T | Benign (Dec 31, 2019) | |||
| 7-134448018-T-C | not specified | Uncertain significance (Jun 06, 2023) | ||
| 7-134448391-G-A | not specified | Uncertain significance (Apr 12, 2022) | ||
| 7-134448403-A-G | not specified | Uncertain significance (Dec 27, 2022) | ||
| 7-134448407-G-A | Likely benign (Dec 31, 2019) | |||
| 7-134449020-T-C | not specified | Uncertain significance (Feb 17, 2024) | ||
| 7-134449714-T-C | Benign (Dec 31, 2019) | |||
| 7-134449726-C-T | Benign (Dec 31, 2019) | |||
| 7-134449765-C-T | Likely benign (Dec 31, 2019) | |||
| 7-134450812-G-C | not specified | Uncertain significance (May 11, 2022) | ||
| 7-134450843-G-A | Benign (Dec 31, 2019) | |||
| 7-134451594-C-T | not specified | Uncertain significance (Jul 12, 2022) | ||
| 7-134451635-T-C | not specified | Uncertain significance (May 24, 2023) | ||
| 7-134451734-G-A | not specified | Uncertain significance (Aug 17, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AKR1B1 | protein_coding | protein_coding | ENST00000285930 | 10 | 16935 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000202 | 0.905 | 125727 | 0 | 21 | 125748 | 0.0000835 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.405 | 157 | 172 | 0.913 | 0.0000100 | 2093 |
| Missense in Polyphen | 29 | 48.17 | 0.60204 | 642 | ||
| Synonymous | -0.214 | 70 | 67.8 | 1.03 | 0.00000423 | 572 |
| Loss of Function | 1.57 | 10 | 17.0 | 0.588 | 7.54e-7 | 209 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000121 | 0.000119 |
| Ashkenazi Jewish | 0.000198 | 0.000198 |
| East Asian | 0.00 | 0.00 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000889 | 0.0000879 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.000166 | 0.000163 |
| Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Catalyzes the NADPH-dependent reduction of a wide variety of carbonyl-containing compounds to their corresponding alcohols with a broad range of catalytic efficiencies.;
- Pathway
- Folate biosynthesis - Homo sapiens (human);Fructose and mannose metabolism - Homo sapiens (human);Glycerolipid metabolism - Homo sapiens (human);Galactose metabolism - Homo sapiens (human);Pentose and glucuronate interconversions - Homo sapiens (human);Cyclophosphamide Pathway, Pharmacodynamics;Ifosfamide Pathway, Pharmacodynamics;Sepiapterin reductase deficiency;Segawa syndrome;Pyruvate Dehydrogenase Complex Deficiency;Fructose intolerance, hereditary;Galactose Metabolism;Familial lipoprotein lipase deficiency;Pterine Biosynthesis;Primary hyperoxaluria II, PH2;Pyruvate kinase deficiency;Leigh Syndrome;Glycerolipid Metabolism;Fructose and Mannose Degradation;Pyruvate Metabolism;Glycerol Kinase Deficiency;Galactosemia;Pyruvate Decarboxylase E1 Component Deficiency (PDHE1 Deficiency);Dopa-responsive dystonia;Hyperphenylalaniemia due to guanosine triphosphate cyclohydrolase deficiency;Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency (ptps);Hyperphenylalaninemia due to dhpr-deficiency;Fructosuria;D-glyceric acidura;Polyol Pathway;Metapathway biotransformation Phase I and II;Fructose biosynthesis;Fructose metabolism;Metabolism of carbohydrates;Metabolism of lipids;Fructose Mannose metabolism;acetone degradation I (to methylglyoxal);Metabolism;Pregnenolone biosynthesis;Metabolism of steroid hormones;Metabolism of steroids;Galactose metabolism;Glycerophospholipid metabolism;methylglyoxal degradation III;Steroid hormones
(Consensus)
Recessive Scores
- pRec
- 0.481
Intolerance Scores
- loftool
- 0.763
- rvis_EVS
- -0.18
- rvis_percentile_EVS
- 40.16
Haploinsufficiency Scores
- pHI
- 0.315
- hipred
- N
- hipred_score
- 0.170
- ghis
- 0.432
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.826
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Akr1b3
- Phenotype
- renal/urinary system phenotype; skeleton 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; growth/size/body region phenotype;
Gene ontology
- Biological process
- tissue homeostasis;renal water homeostasis;carbohydrate metabolic process;sorbitol biosynthetic process;C21-steroid hormone biosynthetic process;response to water deprivation;naphthalene metabolic process;electron transport chain;stress-activated protein kinase signaling cascade;regulation of urine volume;norepinephrine metabolic process;negative regulation of apoptotic process;daunorubicin metabolic process;doxorubicin metabolic process;fructose biosynthetic process;positive regulation of JAK-STAT cascade;positive regulation of smooth muscle cell proliferation;oxidation-reduction process;maternal process involved in female pregnancy;cellular hyperosmotic salinity response;inner medullary collecting duct development;response to thyroid hormone;cellular response to methylglyoxal;cellular response to peptide
- Cellular component
- extracellular space;nucleoplasm;cytosol;plasma membrane bounded cell projection cytoplasm;paranodal junction;mast cell granule;Schmidt-Lanterman incisure;perinuclear region of cytoplasm;extracellular exosome;Schwann cell microvillus
- Molecular function
- alditol:NADP+ 1-oxidoreductase activity;alcohol dehydrogenase (NADP+) activity;electron transfer activity;oxidoreductase activity;glyceraldehyde oxidoreductase activity