AKR1C1
aldo-keto reductase family 1 member C1, the group of Aldo-keto reductases
Basic information
Region (hg38): 10:4963253-4983283
Previous symbols: [ "DDH1" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (46 variants)
- not_provided (4 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the AKR1C1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000001353.6. 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 | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 3 | |||||
| missense | 45 | 47 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 45 | 3 | 2 |
Loading clinvar variants...
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| AKR1C1 | protein_coding | protein_coding | ENST00000380872 | 9 | 90680 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 3.52e-15 | 0.00572 | 125578 | 0 | 170 | 125748 | 0.000676 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -1.42 | 211 | 161 | 1.31 | 0.00000840 | 2083 |
| Missense in Polyphen | 75 | 54.9 | 1.3661 | 715 | ||
| Synonymous | -1.85 | 78 | 59.8 | 1.31 | 0.00000289 | 607 |
| Loss of Function | -0.431 | 21 | 19.0 | 1.11 | 0.00000121 | 221 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00209 | 0.00209 |
| Ashkenazi Jewish | 0.000397 | 0.000397 |
| East Asian | 0.000272 | 0.000272 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000538 | 0.000536 |
| Middle Eastern | 0.000272 | 0.000272 |
| South Asian | 0.00173 | 0.00173 |
| Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Converts progesterone to its inactive form, 20-alpha- dihydroxyprogesterone (20-alpha-OHP). In the liver and intestine, may have a role in the transport of bile. May have a role in monitoring the intrahepatic bile acid concentration. Has a low bile-binding ability. May play a role in myelin formation. {ECO:0000269|PubMed:11013348, ECO:0000269|PubMed:8573067}.;
- Pathway
- Steroid hormone biosynthesis - Homo sapiens (human);Metabolism of xenobiotics by cytochrome P450 - Homo sapiens (human);Benzo(a)pyrene metabolism;Metapathway biotransformation Phase I and II;Prostaglandin Synthesis and Regulation;Signaling by GPCR;Signal Transduction;Metabolism of fat-soluble vitamins;Metabolism of lipids;Androgen and estrogen biosynthesis and metabolism;Metabolism;Synthesis of bile acids and bile salts via 7alpha-hydroxycholesterol;allopregnanolone biosynthesis;Synthesis of bile acids and bile salts via 24-hydroxycholesterol;Synthesis of bile acids and bile salts via 27-hydroxycholesterol;Synthesis of bile acids and bile salts;Bile acid and bile salt metabolism;Metabolism of steroids;Metabolism of vitamins and cofactors;C21-steroid hormone biosynthesis and metabolism;Xenobiotics metabolism;Retinoid metabolism and transport;G alpha (i) signalling events;Visual phototransduction;GPCR downstream signalling
(Consensus)
Intolerance Scores
- loftool
- 0.911
- rvis_EVS
- -0.09
- rvis_percentile_EVS
- 46.92
Haploinsufficiency Scores
- pHI
- 0.0295
- hipred
- N
- hipred_score
- 0.183
- ghis
- 0.417
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.684
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Akr1c21
- Phenotype
Gene ontology
- Biological process
- retinoid metabolic process;xenobiotic metabolic process;digestion;steroid metabolic process;bile acid metabolic process;bile acid and bile salt transport;intestinal cholesterol absorption;epithelial cell differentiation;progesterone metabolic process;retinal metabolic process;cholesterol homeostasis;daunorubicin metabolic process;doxorubicin metabolic process;response to organophosphorus;protein homooligomerization;oxidation-reduction process;cellular response to jasmonic acid stimulus
- Cellular component
- cytosol;extracellular exosome
- Molecular function
- alditol:NADP+ 1-oxidoreductase activity;aldo-keto reductase (NADP) activity;protein binding;alcohol dehydrogenase (NADP+) activity;steroid dehydrogenase activity;oxidoreductase activity;oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor;phenanthrene 9,10-monooxygenase activity;carboxylic acid binding;bile acid binding;17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity;androsterone dehydrogenase (B-specific) activity;ketosteroid monooxygenase activity;trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity;indanol dehydrogenase activity