UXS1

UDP-glucuronate decarboxylase 1, the group of Short chain dehydrogenase/reductase superfamily

Basic information

Region (hg38): 2:106093308-106194301

Links

ENSG00000115652NCBI:80146OMIM:609749HGNC:17729Uniprot:Q8NBZ7AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

  • skeletal dysplasia (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the UXS1 gene.

  • not_specified (42 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the UXS1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001253875.2. 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.

EffectPLPVUSLBBSum
synonymous
1
clinvar
1
missense
41
clinvar
41
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 41 1 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
UXS1protein_codingprotein_codingENST00000283148 15101037
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.002940.9971246450151246600.0000602
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.091482390.6200.00001432776
Missense in Polyphen52109.80.473581154
Synonymous-0.3689691.51.050.00000634766
Loss of Function3.05925.70.3510.00000134307

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002900.0000290
Ashkenazi Jewish0.000.00
East Asian0.00005920.0000556
Finnish0.000.00
European (Non-Finnish)0.00007400.0000708
Middle Eastern0.00005920.0000556
South Asian0.0001310.000131
Other0.0001650.000165

dbNSFP

Source: dbNSFP

Function
FUNCTION: Catalyzes the NAD-dependent decarboxylation of UDP- glucuronic acid to UDP-xylose. Necessary for the biosynthesis of the core tetrasaccharide in glycosaminoglycan biosynthesis.;
Pathway
Amino sugar and nucleotide sugar metabolism - Homo sapiens (human);Galactosemia III;Galactosemia II (GALK);Nucleotide Sugars Metabolism;UDP-D-xylose and UDP-D-glucuronate biosynthesis (Consensus)

Recessive Scores

pRec
0.147

Intolerance Scores

loftool
0.601
rvis_EVS
-0.56
rvis_percentile_EVS
19.31

Haploinsufficiency Scores

pHI
0.198
hipred
Y
hipred_score
0.685
ghis
0.611

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
S
essential_gene_gene_trap
K
gene_indispensability_pred
E
gene_indispensability_score
0.879

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Uxs1
Phenotype
immune system phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span);

Zebrafish Information Network

Gene name
uxs1
Affected structure
chondrocyte
Phenotype tag
abnormal
Phenotype quality
morphology

Gene ontology

Biological process
UDP-D-xylose biosynthetic process;protein tetramerization
Cellular component
cytoplasm;integral component of membrane;Golgi cisterna membrane;extracellular exosome
Molecular function
protein homodimerization activity;UDP-glucuronate decarboxylase activity;NAD+ binding