CES5A

carboxylesterase 5A, the group of Carboxylesterases

Basic information

Region (hg38): 16:55846154-55956031

Previous symbols: [ "CES7" ]

Links

ENSG00000159398NCBI:221223OMIM:618678HGNC:26459Uniprot:Q6NT32AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CES5A gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CES5A 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
1
clinvar
1
missense
34
clinvar
4
clinvar
38
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 34 4 1

Variants in CES5A

This is a list of pathogenic ClinVar variants found in the CES5A region.

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

Position Type Phenotype Significance ClinVar
16-55846471-A-G not specified Uncertain significance (Nov 22, 2023)2352334
16-55846499-T-G not specified Uncertain significance (Dec 22, 2023)2350889
16-55846578-G-A not specified Uncertain significance (Oct 03, 2022)3143265
16-55846598-G-A Benign (Dec 31, 2019)770631
16-55846772-T-C not specified Uncertain significance (Jun 21, 2021)2352789
16-55849626-A-G not specified Uncertain significance (Aug 02, 2022)2304538
16-55849654-C-G not specified Uncertain significance (Mar 12, 2024)3143264
16-55849684-C-T not specified Likely benign (Nov 09, 2021)2244859
16-55849690-C-T not specified Uncertain significance (Dec 03, 2021)2360435
16-55849745-C-A not specified Uncertain significance (Nov 07, 2022)2322578
16-55849749-T-C not specified Uncertain significance (Dec 12, 2023)3143263
16-55849755-T-C not specified Uncertain significance (Aug 02, 2022)2304537
16-55849761-G-A not specified Uncertain significance (Dec 19, 2023)3143262
16-55852887-G-A not specified Uncertain significance (May 11, 2022)2288969
16-55852926-C-T not specified Uncertain significance (Jul 12, 2023)2611609
16-55852977-T-C not specified Uncertain significance (Jan 30, 2024)3143261
16-55856381-A-G not specified Uncertain significance (Oct 27, 2022)2321252
16-55856410-C-A not specified Uncertain significance (Jan 20, 2023)2467907
16-55859560-A-G not specified Uncertain significance (Mar 01, 2024)3143260
16-55859662-A-G not specified Uncertain significance (Jul 05, 2023)2609520
16-55861435-T-C not specified Likely benign (Mar 06, 2023)2458042
16-55861470-T-C not specified Uncertain significance (Nov 10, 2022)2326017
16-55861482-G-A not specified Uncertain significance (May 28, 2023)2552450
16-55863379-A-T not specified Uncertain significance (Oct 31, 2023)3143274
16-55866037-C-T not specified Likely benign (Mar 26, 2024)3266369

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
CES5Aprotein_codingprotein_codingENST00000521992 14109878
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
7.94e-290.000006941018691421224581257480.0999
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense-0.1113373311.020.00001793896
Missense in Polyphen140124.521.12431556
Synonymous-0.4111421361.040.000007931210
Loss of Function-1.103932.31.210.00000205332

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.2030.203
Ashkenazi Jewish0.1350.135
East Asian0.03750.0376
Finnish0.1890.188
European (Non-Finnish)0.1130.113
Middle Eastern0.03750.0376
South Asian0.03720.0368
Other0.1130.113

dbNSFP

Source: dbNSFP

Function
FUNCTION: Involved in the detoxification of xenobiotics and in the activation of ester and amide prodrugs. {ECO:0000250}.;
Pathway
Phase I biotransformations, non P450;Nuclear Receptors Meta-Pathway;NRF2 pathway;retinol biosynthesis;E2F transcription factor network (Consensus)

Recessive Scores

pRec
0.136

Intolerance Scores

loftool
rvis_EVS
1.81
rvis_percentile_EVS
96.95

Haploinsufficiency Scores

pHI
0.146
hipred
N
hipred_score
0.123
ghis

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.796

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Ces5a
Phenotype

Gene ontology

Biological process
lipid catabolic process
Cellular component
extracellular space
Molecular function
sterol esterase activity;triglyceride lipase activity;carboxylic ester hydrolase activity