DAGLA

diacylglycerol lipase alpha, the group of Lipases

Basic information

Region (hg38): 11:61680391-61747001

Previous symbols: [ "C11orf11" ]

Links

ENSG00000134780 ∙ NCBI:747 ∙ OMIM:614015 ∙ HGNC:1165 ∙ Uniprot:Q9Y4D2 ∙ 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 DAGLA gene.

• Benign paroxysmal tonic upgaze of childhood with ataxia (1 variants)
• See cases (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DAGLA 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				10	6	16
missense			36	4	3	43
nonsense		1				1
start loss						0
frameshift	1	1	1			3
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region				3		3
non coding					1	1
Total	1	2	37	14	10

Variants in DAGLA

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

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

Position	Type	Phenotype	Significance	ClinVar
11-61720167-C-T		DAGLA-related disorder	Likely benign (Jan 10, 2020)
11-61720218-G-A		DAGLA-related disorder	Benign (Oct 17, 2019)
11-61720679-G-A			Uncertain significance (Jan 10, 2024)
11-61720707-G-A		Inborn genetic diseases	Uncertain significance (Jul 10, 2023)
11-61720744-A-G		Inborn genetic diseases	Uncertain significance (Jul 19, 2023)
11-61720749-G-A		Inborn genetic diseases	Uncertain significance (Jul 12, 2023)
11-61720762-G-A		Inborn genetic diseases	Uncertain significance (Jun 26, 2024)
11-61720792-T-C		Inborn genetic diseases	Uncertain significance (Jun 25, 2024)
11-61720824-A-G			Uncertain significance (Mar 28, 2024)
11-61720829-C-T		DAGLA-related disorder	Likely benign (Jun 13, 2019)
11-61722931-A-G		DAGLA-related disorder	Uncertain significance (Dec 01, 2023)
11-61723430-G-A		DAGLA-related disorder	Likely benign (Aug 19, 2019)
11-61723495-C-T			Benign (Apr 03, 2018)
11-61728163-C-G		Autism	Uncertain significance (-)
11-61728259-G-A		Inborn genetic diseases	Uncertain significance (May 18, 2022)
11-61728273-G-A		Inborn genetic diseases	Uncertain significance (Aug 08, 2023)
11-61728285-G-A		Inborn genetic diseases	Uncertain significance (Oct 30, 2023)
11-61728939-T-C			Likely benign (Mar 29, 2018)
11-61728994-G-A		Inborn genetic diseases	Uncertain significance (Sep 10, 2024)
11-61731323-A-T		DAGLA-related disorder	Uncertain significance (Dec 27, 2023)
11-61731348-A-G			Uncertain significance (Dec 06, 2022)
11-61731402-A-G		Inborn genetic diseases	Uncertain significance (Jan 17, 2024)
11-61734872-C-T		DAGLA-related disorder	Uncertain significance (Jul 08, 2024)
11-61734879-C-T		DAGLA-related disorder	Benign (May 09, 2018)
11-61734895-A-G		Inborn genetic diseases	Uncertain significance (Dec 15, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DAGLA	protein_coding	protein_coding	ENST00000257215	19	66569

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.00	0.0000105	125735	0	7	125742	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	4.01	402	700	0.574	0.0000494	6687
Missense in Polyphen		136	328.41	0.41412		3149
Synonymous	-0.0920	317	315	1.01	0.0000237	2217
Loss of Function	5.83	3	45.4	0.0660	0.00000213	505

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000547	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000451	0.0000439
Middle Eastern	0.0000547	0.0000544
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the hydrolysis of diacylglycerol (DAG) to 2- arachidonoyl-glycerol (2-AG), the most abundant endocannabinoid in tissues. Required for axonal growth during development and for retrograde synaptic signaling at mature synapses. {ECO:0000269|PubMed:14610053}.
• Pathway: Aldosterone synthesis and secretion - Homo sapiens (human);Retrograde endocannabinoid signaling - Homo sapiens (human);Cell-type Dependent Selectivity of CCK2R Signaling;Cannabinoid receptor signaling;Signaling by GPCR;Signal Transduction;Effects of PIP2 hydrolysis;Platelet activation, signaling and aggregation;Arachidonate production from DAG;Hemostasis;G alpha (q) signalling events;GPCR downstream signalling;N-cadherin signaling events (Consensus)

Recessive Scores

• pRec: 0.120

Intolerance Scores

• loftool: 0.141
• rvis_EVS: -0.57
• rvis_percentile_EVS: 18.96

Haploinsufficiency Scores

• pHI: 0.393
• hipred: Y
• hipred_score: 0.655
• ghis: 0.546

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.369

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Dagla
• Phenotype: normal phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; liver/biliary system phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); skeleton phenotype; immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; endocrine/exocrine gland phenotype; growth/size/body region phenotype; cellular phenotype; homeostasis/metabolism phenotype

Zebrafish Information Network

• Gene name: dagla
• Affected structure: retinal ganglion cell
• Phenotype tag: abnormal
• Phenotype quality: hypoplastic

Gene ontology

• Biological process: G protein-coupled glutamate receptor signaling pathway;neuroblast proliferation;arachidonic acid metabolic process;neurogenesis;neurotransmitter biosynthetic process;diacylglycerol catabolic process;endocannabinoid signaling pathway;retrograde trans-synaptic signaling by endocannabinoid
• Cellular component: plasma membrane;varicosity;postsynaptic membrane;integral component of postsynaptic membrane
• Molecular function: metal ion binding;acylglycerol lipase activity