SULT6B1

sulfotransferase family 6B member 1, the group of Sulfotransferases, cytosolic

Basic information

Region (hg38): 2:37167820-37196598

Links

ENSG00000138068 ∙ NCBI:391365 ∙ OMIM:617152 ∙ HGNC:33433 ∙ Uniprot:Q6IMI4 ∙ 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 SULT6B1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SULT6B1 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						0
missense			17	2		19
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	17	2	0

Variants in SULT6B1

This is a list of pathogenic ClinVar variants found in the SULT6B1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-37167973-C-G		not specified	Uncertain significance (Aug 09, 2021)
2-37167981-G-A		not specified	Uncertain significance (Sep 07, 2022)
2-37167981-G-C		not specified	Uncertain significance (Jul 25, 2023)
2-37167999-T-C		not specified	Uncertain significance (Apr 27, 2023)
2-37168003-A-C		not specified	Uncertain significance (Dec 14, 2022)
2-37168011-T-C		not specified	Uncertain significance (Mar 14, 2023)
2-37168043-A-C		not specified	Uncertain significance (Jun 22, 2021)
2-37168054-C-G		not specified	Uncertain significance (Jun 09, 2022)
2-37171452-G-T		not specified	Uncertain significance (May 31, 2023)
2-37171487-C-T		not specified	Uncertain significance (Oct 14, 2023)
2-37171491-T-C		not specified	Uncertain significance (May 07, 2024)
2-37171500-A-G		not specified	Uncertain significance (Jan 05, 2022)
2-37171511-A-G		not specified	Likely benign (Dec 15, 2021)
2-37171535-C-G		not specified	Uncertain significance (Jul 29, 2023)
2-37171558-C-G		not specified	Likely benign (Sep 22, 2022)
2-37171580-G-T		not specified	Uncertain significance (Jun 05, 2024)
2-37175143-C-A		not specified	Uncertain significance (May 13, 2022)
2-37175197-T-C		not specified	Uncertain significance (May 30, 2023)
2-37187381-C-T		not specified	Uncertain significance (Sep 17, 2021)
2-37187425-G-A		not specified	Uncertain significance (Jan 02, 2024)
2-37188523-A-C		not specified	Uncertain significance (Nov 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SULT6B1	protein_coding	protein_coding	ENST00000260637	7	28779

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.06e-20	0.0000426	125664	1	82	125747	0.000330

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.710	165	141	1.17	0.00000726	1752
Missense in Polyphen		44	42.9	1.0256		574
Synonymous	0.533	48	52.9	0.907	0.00000312	455
Loss of Function	-2.43	24	14.1	1.70	6.64e-7	176

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00100	0.000987
Ashkenazi Jewish	0.00	0.00
East Asian	0.00149	0.00147
Finnish	0.0000941	0.0000924
European (Non-Finnish)	0.000224	0.000220
Middle Eastern	0.00149	0.00147
South Asian	0.000351	0.000294
Other	0.000166	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of thyroxine. Involved in the metabolism of thyroxine (By similarity). {ECO:0000250}.
• 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: 0.0884

Intolerance Scores

• loftool: 0.548
• rvis_EVS: 2.02
• rvis_percentile_EVS: 97.68

Haploinsufficiency Scores

• pHI: 0.0877
• hipred: N
• hipred_score: 0.167

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0183

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Sult6b1

Gene ontology

• Biological process: 3'-phosphoadenosine 5'-phosphosulfate metabolic process
• Cellular component: cytosol
• Molecular function: aryl sulfotransferase activity