SULT1E1
sulfotransferase family 1E member 1, the group of Sulfotransferases, cytosolic
Basic information
Region (hg38): 4:69841212-69860145
Previous symbols: [ "STE" ]
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 SULT1E1 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 | 2 | |||||
| missense | 13 | 14 | ||||
| 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 | 13 | 1 | 2 |
Variants in SULT1E1
This is a list of pathogenic ClinVar variants found in the SULT1E1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 4-69844166-C-G | not specified | Uncertain significance (Apr 15, 2024) | ||
| 4-69844170-T-C | not specified | Uncertain significance (Jun 07, 2023) | ||
| 4-69844177-C-T | not specified | Likely benign (Jun 05, 2024) | ||
| 4-69844260-G-A | not specified | Uncertain significance (Jun 27, 2022) | ||
| 4-69844314-T-C | not specified | Uncertain significance (Jun 27, 2022) | ||
| 4-69847709-C-A | not specified | Uncertain significance (Nov 03, 2022) | ||
| 4-69847717-A-G | not specified | Uncertain significance (Aug 10, 2021) | ||
| 4-69847791-A-T | Likely benign (Jul 06, 2018) | |||
| 4-69849474-G-A | Benign (Apr 05, 2018) | |||
| 4-69849485-T-C | not specified | Likely benign (Mar 29, 2022) | ||
| 4-69849518-A-G | not specified | Uncertain significance (Jun 19, 2024) | ||
| 4-69849526-A-G | not specified | Uncertain significance (Dec 22, 2023) | ||
| 4-69849545-T-G | not specified | Uncertain significance (Oct 10, 2023) | ||
| 4-69854222-A-C | not specified | Uncertain significance (Mar 01, 2023) | ||
| 4-69854239-G-A | not specified | Uncertain significance (Mar 15, 2024) | ||
| 4-69854281-C-T | not specified | Uncertain significance (Apr 28, 2022) | ||
| 4-69854304-T-G | not specified | Uncertain significance (Jun 29, 2023) | ||
| 4-69855343-G-T | Benign (May 18, 2018) | |||
| 4-69855358-C-T | not specified | Uncertain significance (Sep 16, 2021) | ||
| 4-69857538-C-G | not specified | Uncertain significance (Apr 04, 2024) | ||
| 4-69857541-G-C | not specified | Uncertain significance (Aug 02, 2021) | ||
| 4-69857593-G-T | not specified | Uncertain significance (Jan 03, 2024) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| SULT1E1 | protein_coding | protein_coding | ENST00000226444 | 7 | 49373 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.97e-7 | 0.451 | 125696 | 0 | 32 | 125728 | 0.000127 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.121 | 148 | 152 | 0.972 | 0.00000732 | 1970 |
| Missense in Polyphen | 57 | 61.827 | 0.92193 | 816 | ||
| Synonymous | 0.519 | 47 | 51.8 | 0.908 | 0.00000272 | 490 |
| Loss of Function | 0.783 | 12 | 15.3 | 0.784 | 7.13e-7 | 191 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000271 | 0.000271 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000382 | 0.000381 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000116 | 0.000114 |
| Middle Eastern | 0.000382 | 0.000381 |
| South Asian | 0.0000328 | 0.0000327 |
| Other | 0.000327 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of estradiol and estrone. May play a role in the regulation of estrogen receptor activity by metabolizing free estradiol. Maximally sulfates beta-estradiol and estrone at concentrations of 20 nM. Also sulfates dehydroepiandrosterone, pregnenolone, ethinylestradiol, equalenin, diethylstilbesterol and 1-naphthol, at significantly higher concentrations; however, cortisol, testosterone and dopamine are not sulfated. {ECO:0000269|PubMed:11884392}.;
- Pathway
- Steroid hormone biosynthesis - Homo sapiens (human);Aromatase Inhibitor Pathway (Multiple Tissues), Pharmacodynamics;Estrogen Metabolism Pathway;Tamoxifen Pathway, Pharmacokinetics;Pathway_PA165986194 -need delete;Acetaminophen Pathway, Pharmacokinetics;17-Beta Hydroxysteroid Dehydrogenase III Deficiency;Sulfate/Sulfite Metabolism;Sulfite oxidase deficiency;Acetaminophen Metabolism Pathway;Androgen and Estrogen Metabolism;Aromatase deficiency;Photodynamic therapy-induced unfolded protein response;Tamoxifen metabolism;Sulfation Biotransformation Reaction;Estrogen metabolism;Metapathway biotransformation Phase I and II;Phase II - Conjugation of compounds;Biological oxidations;Metabolism;Cytosolic sulfonation of small molecules
(Consensus)
Recessive Scores
- pRec
- 0.217
Intolerance Scores
- loftool
- 0.484
- rvis_EVS
- -0.14
- rvis_percentile_EVS
- 43.29
Haploinsufficiency Scores
- pHI
- 0.118
- hipred
- N
- hipred_score
- 0.144
- ghis
- 0.504
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.990
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Sult1e1
- Phenotype
- endocrine/exocrine gland phenotype; homeostasis/metabolism phenotype; reproductive system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; embryo phenotype;
Gene ontology
- Biological process
- ethanol catabolic process;estrogen catabolic process;steroid metabolic process;estrogen metabolic process;positive regulation of fat cell differentiation;3'-phosphoadenosine 5'-phosphosulfate metabolic process;sulfation
- Cellular component
- cytosol;nuclear membrane
- Molecular function
- aryl sulfotransferase activity;estrone sulfotransferase activity;steroid binding;protein binding;sulfotransferase activity;flavonol 3-sulfotransferase activity;steroid sulfotransferase activity