ABHD6

abhydrolase domain containing 6, acylglycerol lipase, the group of Abhydrolase domain containing

Basic information

Region (hg38): 3:58237531-58295693

Links

ENSG00000163686

∙ NCBI:57406 ∙ OMIM:616966 ∙ HGNC:21398 ∙ Uniprot:Q9BV23 ∙ 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 ABHD6 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABHD6 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						0
missense			14 clinvar			14
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding						0
Total	0	0	14	0	0

Variants in ABHD6

This is a list of pathogenic ClinVar variants found in the ABHD6 region.

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

Position	Phenotype	Significance	ClinVar
3-58256608-A-T	not specified	Uncertain significance (Aug 12, 2021)	2390096
3-58256621-C-T	not specified	Uncertain significance (Jan 03, 2024)	3131116
3-58256689-A-C	not specified	Uncertain significance (Nov 30, 2022)	2329718
3-58267221-G-A	not specified	Uncertain significance (Mar 30, 2024)	2369328
3-58267295-A-C	not specified	Uncertain significance (Mar 31, 2024)	3323259
3-58269330-A-G	not specified	Uncertain significance (Oct 27, 2021)	2257746
3-58269367-A-G	not specified	Uncertain significance (Oct 05, 2023)	3131115
3-58270986-A-G	not specified	Uncertain significance (Jun 17, 2024)	3323517
3-58274711-G-C	not specified	Uncertain significance (Sep 29, 2022)	2314484
3-58274720-G-A	not specified	Uncertain significance (Feb 05, 2024)	3131122
3-58274820-C-T		Benign (Dec 13, 2017)	708984
3-58285110-G-A	not specified	Uncertain significance (Mar 20, 2024)	3323343
3-58285126-C-A	not specified	Uncertain significance (Dec 17, 2023)	3131124
3-58285134-G-A	not specified	Uncertain significance (Dec 02, 2022)	2332092
3-58285415-A-G	not specified	Uncertain significance (May 30, 2024)	3323430
3-58293598-G-A	not specified	Uncertain significance (Sep 14, 2023)	2623954
3-58293643-G-T	not specified	Uncertain significance (Dec 16, 2022)	2336009
3-58293742-G-C	not specified	Uncertain significance (May 30, 2023)	2552585
3-58293743-A-G	not specified	Uncertain significance (Oct 04, 2022)	2374532

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABHD6	protein_coding	protein_coding	ENST00000478253	8	58188

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000223	0.915	125728	0	20	125748	0.0000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.763	167	197	0.847	0.0000109	2216
Missense in Polyphen		49	60.207	0.81385		636
Synonymous	0.423	74	78.8	0.939	0.00000459	657
Loss of Function	1.62	10	17.2	0.580	8.17e-7	200

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000868	0.0000868
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.000163	0.000163
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Function: FUNCTION: Lipase that preferentially hydrolysis medium-chain saturated monoacylglycerols including 2-arachidonoylglycerol (PubMed:22969151). Through 2-arachidonoylglycerol degradation may regulate endocannabinoid signaling pathways. May also have a lysophosphatidyl lipase activity with a preference for lysophosphatidylglycerol among other lysophospholipids (By similarity). {ECO:0000250|UniProtKB:Q8R2Y0, ECO:0000269|PubMed:22969151}.;
Pathway: Retrograde endocannabinoid signaling - Homo sapiens (human);Signaling by GPCR;Signal Transduction;Effects of PIP2 hydrolysis;Platelet activation, signaling and aggregation;Arachidonate production from DAG;Hemostasis;triacylglycerol degradation;G alpha (q) signalling events;GPCR downstream signalling (Consensus)

Recessive Scores

pRec: 0.419

Intolerance Scores

loftool: 0.448
rvis_EVS: -0.49
rvis_percentile_EVS: 22.09

Haploinsufficiency Scores

pHI: 0.0485
hipred: N
hipred_score: 0.394
ghis: 0.623

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: N
gene_indispensability_score: 0.179

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Abhd6
Phenotype

Gene ontology

Biological process: phospholipid catabolic process;negative regulation of cell migration;acylglycerol catabolic process;positive regulation of lipid biosynthetic process;long-term synaptic depression;negative regulation of cold-induced thermogenesis;regulation of endocannabinoid signaling pathway
Cellular component: mitochondrion;plasma membrane;integral component of membrane;AMPA glutamate receptor complex;glutamatergic synapse;GABA-ergic synapse;integral component of postsynaptic membrane
Molecular function: phospholipase activity;acylglycerol lipase activity