SULT1A4

sulfotransferase family 1A member 4, the group of Sulfotransferases, cytosolic

Basic information

Region (hg38): 16:29459913-29464966

Links

ENSG00000213648 ∙ NCBI:445329 ∙ OMIM:615819 ∙ HGNC:30004 ∙ Uniprot:P0DMN0 ∙ 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 SULT1A4 gene.

• not_provided (1 variants)
• not_specified (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SULT1A4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001017390.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			1			1
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	1	1	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SULT1A4	protein_coding	protein_coding	ENST00000395400	7	9174

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.385	0.486	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.980	3	12.9	0.232	6.65e-7	1898
Missense in Polyphen		0	3.3471	0		730
Synonymous	0.476	5	6.55	0.763	3.99e-7	530
Loss of Function	0.893	0	0.928	0.00	3.94e-8	164

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Sulfotransferase that utilizes 3'-phospho-5'-adenylyl sulfate (PAPS) as sulfonate donor to catalyze the sulfate conjugation of phenolic monoamines (neurotransmitters such as dopamine, norepinephrine and serotonin) and phenolic and catechol drugs.
• Pathway: Chemical carcinogenesis - Homo sapiens (human);Pathway_PA165986194 -need delete;Acetaminophen Pathway, Pharmacokinetics;Acetaminophen Metabolism Pathway;Sulfation Biotransformation Reaction;Metapathway biotransformation Phase I and II;Phase II - Conjugation of compounds;dopamine degradation;Biological oxidations;Metabolism;Cytosolic sulfonation of small molecules;serotonin degradation;superpathway of tryptophan utilization (Consensus)

Recessive Scores

• pRec: 0.172

Haploinsufficiency Scores

• pHI: 0.908
• hipred: N
• hipred_score: 0.139
• ghis: 0.429

Essentials

• essential_gene_CRISPR: E
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.207

Gene ontology

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