CES5A

carboxylesterase 5A, the group of Carboxylesterases

Basic information

Region (hg38): 16:55846154-55956031

Previous symbols: [ "CES7" ]

Links

ENSG00000159398 ∙ NCBI:221223 ∙ OMIM:618678 ∙ HGNC:26459 ∙ Uniprot:Q6NT32 ∙ 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 CES5A gene.

• not_specified (70 variants)
• not_provided (1 variants)

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. These statistics are base on transcript: NM_001143685.2. 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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					1	1
missense			63	7		70
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	63	7	1

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CES5A	protein_coding	protein_coding	ENST00000521992	14	109878

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.94e-29	0.00000694	101869	1421	22458	125748	0.0999

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.111	337	331	1.02	0.0000179	3896
Missense in Polyphen		140	124.52	1.1243		1556
Synonymous	-0.411	142	136	1.04	0.00000793	1210
Loss of Function	-1.10	39	32.3	1.21	0.00000205	332

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.203	0.203
Ashkenazi Jewish	0.135	0.135
East Asian	0.0375	0.0376
Finnish	0.189	0.188
European (Non-Finnish)	0.113	0.113
Middle Eastern	0.0375	0.0376
South Asian	0.0372	0.0368
Other	0.113	0.113

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

• rvis_EVS: 1.81
• rvis_percentile_EVS: 96.95

Haploinsufficiency Scores

• pHI: 0.146
• hipred: N
• hipred_score: 0.123

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

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Mouse Genome Informatics

• Gene name: Ces5a

Gene ontology

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