DAGLB

diacylglycerol lipase beta, the group of Lipases

Basic information

Region (hg38): 7:6409126-6484190

Links

ENSG00000164535 ∙ NCBI:221955 ∙ OMIM:614016 ∙ HGNC:28923 ∙ Uniprot:Q8NCG7 ∙ 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 DAGLB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the DAGLB 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				5	2	7
missense			58	3	3	64
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	58	8	6

Variants in DAGLB

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

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

Position	Type	Phenotype	Significance	ClinVar
7-6409845-C-T		not specified	Uncertain significance (Aug 02, 2021)
7-6409853-C-T		not specified	Likely benign (Sep 29, 2023)
7-6409860-C-T		not specified	Uncertain significance (Oct 08, 2024)
7-6409881-C-T			Benign (Nov 09, 2018)
7-6409890-C-T			Benign (Jul 23, 2018)
7-6409905-C-T		not specified	Uncertain significance (Jul 20, 2021)
7-6409921-C-T		not specified	Uncertain significance (Oct 12, 2022)
7-6409929-T-C		not specified	Likely benign (Sep 17, 2021)
7-6409958-G-A		not specified	Uncertain significance (Sep 22, 2023)
7-6409959-G-C		not specified	Uncertain significance (Oct 08, 2024)
7-6409960-A-G			Benign/Likely benign (Dec 01, 2022)
7-6409973-T-C		not specified	Likely benign (Sep 20, 2024)
7-6409977-T-A		not specified	Uncertain significance (Mar 23, 2022)
7-6410004-C-T		not specified	Uncertain significance (Jul 27, 2024)
7-6410027-C-T		not specified	Uncertain significance (Sep 29, 2023)
7-6410136-G-A		not specified	Uncertain significance (May 07, 2024)
7-6410163-A-G			Benign (Dec 31, 2019)
7-6410248-G-A		not specified	Uncertain significance (Oct 10, 2023)
7-6410272-G-C		not specified	Uncertain significance (Mar 02, 2023)
7-6410280-T-C		not specified	Uncertain significance (Sep 22, 2023)
7-6410283-G-A		not specified	Uncertain significance (Aug 12, 2021)
7-6410316-G-T		not specified	Uncertain significance (Mar 02, 2023)
7-6410327-G-T		not specified	Uncertain significance (Feb 26, 2024)
7-6410329-T-C		not specified	Likely benign (May 02, 2023)
7-6410350-C-T		not specified	Uncertain significance (Jul 09, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
DAGLB	protein_coding	protein_coding	ENST00000297056	15	75065

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
2.63e-12	0.668	125673	0	75	125748	0.000298

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.28	484	411	1.18	0.0000243	4355
Missense in Polyphen		162	135.1	1.1991		1429
Synonymous	-1.78	211	181	1.17	0.0000130	1360
Loss of Function	1.58	23	32.7	0.702	0.00000149	378

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000797	0.000789
Ashkenazi Jewish	0.00	0.00
East Asian	0.000716	0.000707
Finnish	0.000185	0.000185
European (Non-Finnish)	0.000263	0.000255
Middle Eastern	0.000716	0.000707
South Asian	0.000337	0.000327
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);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: 0.104

Intolerance Scores

• loftool: 0.889
• rvis_EVS: 0.03
• rvis_percentile_EVS: 55.86

Haploinsufficiency Scores

• pHI: 0.120
• hipred: N
• hipred_score: 0.289
• ghis: 0.489

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.965

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Daglb
• Phenotype: cellular phenotype; homeostasis/metabolism 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)

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: nucleus;lysosomal membrane;plasma membrane;integral component of membrane;postsynaptic membrane
• Molecular function: metal ion binding;acylglycerol lipase activity