GeneBe

CES3

carboxylesterase 3, the group of Carboxylesterases

Basic information

Region (hg38): 16:66961245-66975149

Links

ENSG00000172828 ∙ NCBI:23491 ∙ OMIM:605279 ∙ HGNC:1865 ∙ Uniprot:Q6UWW8 ∙ 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 CES3 gene.

  • not_specified (86 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CES3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000024922.6. 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
2
clinvar
 2
missense
76
clinvar
10
clinvar
 86
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
2
clinvar
 2
Total 0 0 80 10 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CES3protein_codingprotein_codingENST00000303334 1313912
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
2.34e-120.23612555011971257480.000788
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5263193470.9200.00002003726
Missense in Polyphen124125.290.989731522
Synonymous0.01881381380.9980.000008811136
Loss of Function0.9732126.40.7960.00000132272

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.004650.00459
Ashkenazi Jewish0.000.00
East Asian0.002610.00261
Finnish0.000.00
European (Non-Finnish)0.0004320.000431
Middle Eastern0.002610.00261
South Asian0.0005560.000523
Other0.0003260.000326

dbNSFP

Source: dbNSFP

Function
FUNCTION: Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. Shows low catalytic efficiency for hydrolysis of CPT-11 (7-ethyl-10-[4-(1-piperidino)- 1-piperidino]-carbonyloxycamptothecin), a prodrug for camptothecin used in cancer therapeutics.;
Pathway
Aryl Hydrocarbon Receptor Pathway;Nuclear Receptors Meta-Pathway;NRF2 pathway;Phase I - Functionalization of compounds;Biological oxidations;Metabolism;LDL clearance;Plasma lipoprotein clearance;Transport of small molecules;Plasma lipoprotein assembly, remodeling, and clearance;E2F transcription factor network (Consensus)

Intolerance Scores

loftool
0.935
rvis_EVS
0.23
rvis_percentile_EVS
68.52

Haploinsufficiency Scores

pHI
0.0560
hipred
N
hipred_score
0.153
ghis
0.402

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.672

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Ces3b
Phenotype

Zebrafish Information Network

Gene name
ces3
Affected structure
otolith
Phenotype tag
abnormal
Phenotype quality
morphology

Gene ontology

Biological process
xenobiotic metabolic process;lipid catabolic process;low-density lipoprotein particle clearance
Cellular component
extracellular space;endoplasmic reticulum lumen;cytosol;extracellular exosome
Molecular function
sterol esterase activity;triglyceride lipase activity;carboxylic ester hydrolase activity