UST

uronyl 2-sulfotransferase, the group of Sulfotransferases, membrane bound

Basic information

Region (hg38): 6:148747029-149076990

Links

ENSG00000111962 ∙ NCBI:10090 ∙ OMIM:610752 ∙ HGNC:17223 ∙ Uniprot:Q9Y2C2 ∙ 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 UST gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UST 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	2
missense			19	1		20
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	2	1

Variants in UST

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

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

Position	Type	Phenotype	Significance	ClinVar
6-148747455-G-C		not specified	Uncertain significance (May 26, 2024)
6-148747461-G-C		not specified	Uncertain significance (Aug 12, 2021)
6-148747509-G-T		not specified	Uncertain significance (Jul 20, 2022)
6-148747518-A-G		not specified	Uncertain significance (Feb 10, 2022)
6-148747564-T-C		not specified	Uncertain significance (May 18, 2023)
6-148747575-G-A		not specified	Uncertain significance (Feb 28, 2024)
6-148747585-T-G		not specified	Uncertain significance (Nov 12, 2021)
6-148941324-T-C		not specified	Uncertain significance (Sep 06, 2022)
6-148941370-A-G		not specified	Uncertain significance (Jul 13, 2022)
6-148941375-G-A		not specified	Uncertain significance (Nov 18, 2022)
6-148953948-C-T		not specified	Uncertain significance (Jun 05, 2023)
6-148964460-A-G		not specified	Likely benign (Dec 21, 2022)
6-148964544-G-A		not specified	Uncertain significance (Dec 12, 2023)
6-149019160-G-A		not specified	Uncertain significance (Jun 03, 2024)
6-149019172-G-A		not specified	Uncertain significance (Jun 07, 2023)
6-149021372-A-C		not specified	Uncertain significance (Mar 14, 2023)
6-149073833-A-G		not specified	Uncertain significance (Aug 02, 2022)
6-149073913-C-T		not specified	Uncertain significance (Dec 09, 2023)
6-149073931-G-A		not specified	Uncertain significance (Jan 26, 2022)
6-149073984-A-G			Likely benign (Nov 01, 2022)
6-149073985-C-G		not specified	Uncertain significance (Aug 02, 2021)
6-149073992-C-G		not specified	Uncertain significance (Oct 12, 2021)
6-149074008-C-T			Benign (Jul 06, 2018)
6-149074037-C-T		not specified	Uncertain significance (Jan 08, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
UST	protein_coding	protein_coding	ENST00000367463	8	329663

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.439	0.560	125739	0	9	125748	0.0000358

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.14	174	222	0.785	0.0000122	2651
Missense in Polyphen		34	50.985	0.66687		554
Synonymous	-0.757	100	90.8	1.10	0.00000551	770
Loss of Function	3.13	4	18.5	0.216	8.43e-7	237

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000629	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.0000577	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Sulfotransferase that catalyzes the transfer of sulfate to the position 2 of uronyl residues. Has mainly activity toward iduronyl residues in dermatan sulfate, and weaker activity toward glucuronyl residues of chondroitin sulfate. Has no activity toward desulfated N-resulfated heparin.
• Pathway: Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate - Homo sapiens (human);Metabolism of carbohydrates;Dermatan sulfate biosynthesis;Chondroitin sulfate/dermatan sulfate metabolism;Glycosaminoglycan metabolism;dermatan sulfate biosynthesis (late stages);chondroitin sulfate biosynthesis (late stages);chondroitin sulfate biosynthesis;dermatan sulfate biosynthesis;Metabolism (Consensus)

Recessive Scores

• pRec: 0.126

Intolerance Scores

• loftool: 0.183
• rvis_EVS: -0.51
• rvis_percentile_EVS: 21.41

Haploinsufficiency Scores

• pHI: 0.208
• hipred: Y
• hipred_score: 0.654
• ghis: 0.537

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.450

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ust

Gene ontology

• Biological process: protein sulfation;establishment of cell polarity;dermatan sulfate biosynthetic process;regulation of axonogenesis
• Cellular component: Golgi membrane;integral component of membrane
• Molecular function: sulfotransferase activity