SULT1E1

sulfotransferase family 1E member 1, the group of Sulfotransferases, cytosolic

Basic information

Region (hg38): 4:69841211-69860145

Previous symbols: [ "STE" ]

Links

ENSG00000109193 ∙ NCBI:6783 ∙ OMIM:600043 ∙ HGNC:11377 ∙ Uniprot:P49888 ∙ 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 SULT1E1 gene.

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	2
missense			13	1		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: gnomAD

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: dbNSFP

• 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