CES4A

carboxylesterase 4A, the group of Carboxylesterases

Basic information

Region (hg38): 16:66988589-67010417

Previous symbols: [ "CES8" ]

Links

ENSG00000172824 ∙ NCBI:283848 ∙ ∙ HGNC:26741 ∙ Uniprot:Q5XG92 ∙ 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 CES4A gene.

• not_specified (75 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CES4A gene is commonly pathogenic or not. These statistics are base on transcript: NM_001364782.1. 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			61	13		74
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	62	13	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CES4A	protein_coding	protein_coding	ENST00000540947	12	21170

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.90e-7	0.962	124747	0	66	124813	0.000264

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.08	226	277	0.817	0.0000144	3033
Missense in Polyphen		56	75.541	0.74132		906
Synonymous	-0.00735	112	112	1.00	0.00000623	926
Loss of Function	1.97	14	24.5	0.571	0.00000115	264

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000732	0.000732
Ashkenazi Jewish	0.00	0.00
East Asian	0.000612	0.000612
Finnish	0.00	0.00
European (Non-Finnish)	0.000266	0.000238
Middle Eastern	0.000612	0.000612
South Asian	0.0000654	0.0000654
Other	0.000330	0.000330

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probable carboxylesterase. {ECO:0000250}.
• Pathway: Nuclear Receptors Meta-Pathway;NRF2 pathway;retinol biosynthesis;E2F transcription factor network (Consensus)

Intolerance Scores

• rvis_EVS: -0.31
• rvis_percentile_EVS: 31.93

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.212
• ghis: 0.534

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ces4a

Gene ontology

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