CEL

carboxyl ester lipase, the group of Lipases

Basic information

Region (hg38): 9:133061981-133071861

Links

ENSG00000170835 ∙ NCBI:1056 ∙ OMIM:114840 ∙ HGNC:1848 ∙ Uniprot:P19835 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• maturity-onset diabetes of the young type 8 (Strong), mode of inheritance: AD
• maturity-onset diabetes of the young (Supportive), mode of inheritance: AD
• maturity-onset diabetes of the young type 8 (Moderate), mode of inheritance: AD
• maturity-onset diabetes of the young type 8 (Limited), mode of inheritance: Unknown
• maturity-onset diabetes of the young type 8 (Moderate), mode of inheritance: AD

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Maturity-onset diabetes of the young, type 8, with exocrine dysfunction	AD	Endocrine; Gastrointestinal	In addition to endocrine manifestations (diabetes mellitus), recognition and specific treatment for exocrine dysfunction may be beneficial	Endocrine; Gastrointestinal	16369531; 18544793; 17989309; 19760265; 21784842; 21521318

ClinVar

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

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CEL 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			3	52	6	61
missense			77	19	6	102
nonsense		1				1
start loss						0
frameshift		3	2			5
inframe indel				2	1	3
splice donor/acceptor (+/-2bp)			1			1
splice region			1	3		4
non coding			3	15	5	23
Total	0	4	86	88	18

Variants in CEL

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

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

Position	Type	Phenotype	Significance	ClinVar
9-133061990-G-A		not specified	Uncertain significance (Apr 12, 2019)
9-133062009-C-T		not specified	Benign/Likely benign (Apr 01, 2024)
9-133062056-G-A		not specified	Benign/Likely benign (Oct 01, 2020)
9-133062063-G-T		not specified	Benign/Likely benign (Oct 01, 2020)
9-133064098-C-T			Likely benign (Jul 10, 2018)
9-133064283-A-C			Benign (Jul 05, 2018)
9-133064358-C-T			Likely benign (Jul 10, 2018)
9-133064377-CT-C			Likely benign (Nov 27, 2018)
9-133064410-G-A		Inborn genetic diseases	Uncertain significance (Mar 01, 2023)
9-133064422-G-A		Inborn genetic diseases	Uncertain significance (Jun 05, 2023)
9-133064436-G-C		not specified • Maturity-onset diabetes of the young type 8	Likely benign (Nov 13, 2021)
9-133064469-T-C		not specified	Likely benign (Feb 13, 2018)
9-133064515-A-G		not specified	Uncertain significance (Aug 07, 2020)
9-133064540-A-T		Maturity-onset diabetes of the young type 8	Uncertain significance (Sep 22, 2023)
9-133064588-C-T		Maturity-onset diabetes of the young type 8	Uncertain significance (Aug 07, 2018)
9-133064589-G-A			Likely benign (Jul 10, 2018)
9-133064661-T-C			Uncertain significance (Sep 13, 2024)
9-133064662-C-A			Uncertain significance (Jan 13, 2022)
9-133064687-A-G		Inborn genetic diseases	Uncertain significance (Nov 17, 2023)
9-133064699-A-C		Maturity-onset diabetes of the young type 8	Uncertain significance (Oct 09, 2023)
9-133064759-C-T		Maturity-onset diabetes of the young type 8	Conflicting classifications of pathogenicity (Mar 25, 2024)
9-133064762-G-A			Uncertain significance (Jul 01, 2023)
9-133064957-C-T		Maturity-onset diabetes of the young type 8	Uncertain significance (Apr 03, 2023)
9-133064992-C-G			Likely benign (Jul 10, 2018)
9-133065038-A-G		Maturity-onset diabetes of the young type 8	Uncertain significance (Nov 30, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CEL	protein_coding	protein_coding	ENST00000372080	11	9884

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000154	0.963	124740	0	69	124809	0.000276

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.112	415	421	0.985	0.0000279	4819
Missense in Polyphen		136	162.42	0.83732		1883
Synonymous	-2.22	236	196	1.20	0.0000160	1617
Loss of Function	1.96	13	23.2	0.561	0.00000118	259

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000692	0.000690
Ashkenazi Jewish	0.000100	0.0000993
East Asian	0.000688	0.000668
Finnish	0.0000937	0.0000928
European (Non-Finnish)	0.000225	0.000221
Middle Eastern	0.000688	0.000668
South Asian	0.000229	0.000229
Other	0.000166	0.000165

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes fat and vitamin absorption. Acts in concert with pancreatic lipase and colipase for the complete digestion of dietary triglycerides.
• Pathway: Glycerolipid metabolism - Homo sapiens (human);Fat digestion and absorption - Homo sapiens (human);Steroid biosynthesis - Homo sapiens (human);Pancreatic secretion - Homo sapiens (human);triacylglycerol degradation;Digestion of dietary lipid;Digestion;Digestion and absorption (Consensus)

Recessive Scores

• pRec: 0.368

Haploinsufficiency Scores

• pHI: 0.369
• hipred: N
• hipred_score: 0.271

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.148

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cel
• Phenotype: homeostasis/metabolism phenotype; growth/size/body region phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); liver/biliary system phenotype; digestive/alimentary phenotype

Gene ontology

• Biological process: lipid metabolic process;cholesterol catabolic process;neuron cell-cell adhesion;fatty acid catabolic process;protein esterification;pancreatic juice secretion;intestinal cholesterol absorption;lipid digestion;intestinal lipid catabolic process;synaptic vesicle endocytosis;modulation of chemical synaptic transmission;postsynaptic membrane assembly;presynaptic membrane assembly
• Cellular component: extracellular region;extracellular space;cytoplasm;integral component of plasma membrane;cell surface;synapse;extracellular exosome;presynapse
• Molecular function: catalytic activity;sterol esterase activity;triglyceride lipase activity;protein binding;heparin binding;hydrolase activity;signaling receptor activity;neurexin family protein binding;acylglycerol lipase activity