CES3

carboxylesterase 3, the group of Carboxylesterases

Basic information

Region (hg38): 16:66961244-66975149

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.

• Inborn genetic diseases (27 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.

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						0
missense			21	6		27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	6	0

Variants in CES3

This is a list of pathogenic ClinVar variants found in the CES3 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-66963184-G-A		not specified	Likely benign (May 11, 2022)
16-66963187-G-A		not specified	Uncertain significance (Aug 17, 2022)
16-66963205-G-T		not specified	Uncertain significance (May 23, 2023)
16-66963227-G-A		not specified	Uncertain significance (Apr 18, 2023)
16-66963283-A-G		not specified	Uncertain significance (Jan 24, 2023)
16-66963299-C-T		not specified	Uncertain significance (Jun 29, 2022)
16-66963316-C-T		not specified	Uncertain significance (Feb 27, 2023)
16-66963492-T-G		not specified	Uncertain significance (Dec 08, 2023)
16-66963537-A-G		not specified	Uncertain significance (Jan 23, 2024)
16-66963587-C-A		not specified	Uncertain significance (Dec 28, 2023)
16-66963881-G-A		not specified	Uncertain significance (Oct 26, 2021)
16-66963910-C-T		not specified	Uncertain significance (Apr 22, 2022)
16-66963911-G-A		not specified	Likely benign (Jan 31, 2022)
16-66964404-T-A		not specified	Uncertain significance (Apr 26, 2023)
16-66964415-C-T		not specified	Uncertain significance (Dec 07, 2021)
16-66964436-G-A		not specified	Likely benign (Jun 07, 2023)
16-66964437-C-T		not specified	Uncertain significance (Feb 15, 2023)
16-66964485-C-G		not specified	Uncertain significance (Mar 04, 2024)
16-66964704-T-C		not specified	Uncertain significance (Jul 14, 2021)
16-66966317-G-A		not specified	Uncertain significance (Mar 23, 2022)
16-66966749-G-A		not specified	Likely benign (Jul 19, 2023)
16-66966758-A-T		not specified	Uncertain significance (Apr 25, 2022)
16-66966785-C-A		not specified	Uncertain significance (Sep 01, 2021)
16-66969745-G-A		not specified	Uncertain significance (Jun 30, 2022)
16-66971293-C-T		not specified	Uncertain significance (Dec 28, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CES3	protein_coding	protein_coding	ENST00000303334	13	13912

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.34e-12	0.236	125550	1	197	125748	0.000788

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.526	319	347	0.920	0.0000200	3726
Missense in Polyphen		124	125.29	0.98973		1522
Synonymous	0.0188	138	138	0.998	0.00000881	1136
Loss of Function	0.973	21	26.4	0.796	0.00000132	272

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00465	0.00459
Ashkenazi Jewish	0.00	0.00
East Asian	0.00261	0.00261
Finnish	0.00	0.00
European (Non-Finnish)	0.000432	0.000431
Middle Eastern	0.00261	0.00261
South Asian	0.000556	0.000523
Other	0.000326	0.000326

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

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

Mouse Genome Informatics

• Gene name: Ces3b

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