SULT1B1

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

Basic information

Region (hg38): 4:69721167-69787961

Links

ENSG00000173597 ∙ NCBI:27284 ∙ OMIM:608436 ∙ HGNC:17845 ∙ Uniprot:O43704 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SULT1B1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SULT1B1 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					1	1
missense			8	2	1	11
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	2	2

Variants in SULT1B1

This is a list of pathogenic ClinVar variants found in the SULT1B1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
4-69727102-G-A		not specified	Uncertain significance (Oct 10, 2023)
4-69727131-G-A		not specified	Uncertain significance (Mar 31, 2024)
4-69727141-T-C		not specified	Uncertain significance (Jan 19, 2024)
4-69727143-G-A		not specified	Uncertain significance (Dec 27, 2023)
4-69727197-G-A			Likely benign (Jan 01, 2023)
4-69730614-T-C		not specified	Uncertain significance (Mar 16, 2022)
4-69730651-T-C		not specified	Uncertain significance (Oct 20, 2021)
4-69733441-A-T		not specified	Uncertain significance (May 22, 2023)
4-69734207-A-C			Benign (Mar 30, 2018)
4-69734248-C-G		not specified	Uncertain significance (Aug 15, 2023)
4-69740308-A-G		Levothyroxine response	other (-)
4-69749810-G-T		not specified	Uncertain significance (Mar 31, 2024)
4-69749818-C-T		not specified	Uncertain significance (May 20, 2024)
4-69754675-G-A		not specified	Likely benign (Jan 02, 2024)
4-69754755-A-G			Benign (Jul 31, 2018)
4-69755140-G-T		not specified	Uncertain significance (Apr 20, 2024)
4-69755208-G-A		not specified	Uncertain significance (Mar 06, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SULT1B1	protein_coding	protein_coding	ENST00000310613	7	66800

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.26e-8	0.327	125659	0	79	125738	0.000314

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.445	172	156	1.10	0.00000764	1980
Missense in Polyphen		72	61.294	1.1747		747
Synonymous	-1.36	62	49.8	1.25	0.00000237	504
Loss of Function	0.645	13	15.8	0.825	8.33e-7	194

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000725	0.000724
Ashkenazi Jewish	0.000199	0.000198
East Asian	0.000332	0.000326
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000300	0.000299
Middle Eastern	0.000332	0.000326
South Asian	0.000368	0.000359
Other	0.000816	0.000815

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of many hormones, neurotransmitters, drugs and xenobiotic compounds. Sulfonation increases the water solubility of most compounds, and therefore their renal excretion, but it can also result in bioactivation to form active metabolites. Sulfates dopamine, small phenols such as 1-naphthol and p-nitrophenol and thyroid hormones, including 3,3'-diiodothyronine, triidothyronine, reverse triiodothyronine and thyroxine. {ECO:0000269|PubMed:9443824, ECO:0000269|PubMed:9463486}.
• Pathway: Sulfation Biotransformation Reaction;Metapathway biotransformation Phase I and II;Phase II - Conjugation of compounds;Biological oxidations;Metabolism;Cytosolic sulfonation of small molecules (Consensus)

Recessive Scores

• pRec: 0.148

Intolerance Scores

• loftool: 0.552
• rvis_EVS: 0.11
• rvis_percentile_EVS: 61.73

Haploinsufficiency Scores

• pHI: 0.0599
• hipred: N
• hipred_score: 0.190
• ghis: 0.486

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.700

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Sult1b1
• Phenotype: behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: ethanol catabolic process;cellular biogenic amine metabolic process;xenobiotic metabolic process;steroid metabolic process;flavonoid metabolic process;phenol-containing compound metabolic process;epithelial cell differentiation;thyroid hormone metabolic process;3'-phosphoadenosine 5'-phosphosulfate metabolic process;sulfation
• Cellular component: cytosol
• Molecular function: aryl sulfotransferase activity;protein binding;sulfotransferase activity