UGT3A1

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous						0
missense			74 clinvar	4 clinvar		78
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	75	4	0	79

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 30 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152404.4	RefSeq	NP_689617.3	7	MANE Select
ENST00000274278.8	Ensembl	ENSP00000274278.3	7	MANE Select
NM_001171873.2	RefSeq	NP_001165344.1	4	Standard
ENST00000333811.5	Ensembl	ENSP00000328033.4	4	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Glucuronidation
Phase II - Conjugation of compounds
Biological oxidations
Metabolism

Molecular Function

UDP-glycosyltransferase activity
glucuronosyltransferase activity

Cellular Component

integral component of membrane
intracellular membrane-bounded organelle
UDP-N-acetylglucosamine transferase complex

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000274278
Coding exons: 7
Length: 50019
Individuals with no LoFs: 125539
Homozygous LoFs: 0
Heterozygous LoFs: 209
Defined: 125748
p: 0.000831

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.147	290	283	1.02	0.0000141	3453
Missense (PolyPhen)		97	98.461	0.98517		1328
Synonymous	-1.02	120	107	1.13	0.00000525	1036
Loss of Function	-0.0555	19	18.7	1.01	9.67e-7	215

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0066	0.0066	notable
Latino/Admixed American	0.00084	0.00084	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00071	0.00071	rare
Finnish	0.00018	0.00018	rare
European (Non-Finnish)	0.00041	0.00041	rare
South Asian	0.00026	0.00026	rare
Other	0.00016	0.00016	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: UDP-glucuronosyltransferases catalyze phase II biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds (By similarity). {ECO:0000250}.;

Recessive Scores

pRec: 0.0701

Intolerance Scores

LoFtool: 0.934
RVIS EVS: 0.31
RVIS percentile EVS: 72.6

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0798

Gene Damage Prediction

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