ABHD1

abhydrolase domain containing 1, the group of Abhydrolase domain containing

Basic information

Region (hg38): 2:27123789-27130812

Links

ENSG00000143994 ∙ NCBI:84696 ∙ OMIM:612195 ∙ HGNC:17553 ∙ Uniprot:Q96SE0 ∙ 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 ABHD1 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ABHD1 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			39	2		41
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	39	2	0

Variants in ABHD1

This is a list of pathogenic ClinVar variants found in the ABHD1 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-27123973-C-A		not specified	Uncertain significance (Apr 04, 2023)
2-27124021-G-T		not specified	Uncertain significance (May 03, 2023)
2-27124060-C-A		not specified	Uncertain significance (Feb 16, 2023)
2-27128475-C-T		not specified	Uncertain significance (Apr 29, 2024)
2-27128495-T-C		not specified	Likely benign (Jan 29, 2024)
2-27128496-C-T		not specified	Uncertain significance (Oct 02, 2023)
2-27128499-T-C		not specified	Uncertain significance (May 18, 2023)
2-27128507-G-A		not specified	Uncertain significance (May 23, 2024)
2-27128508-A-G		not specified	Uncertain significance (Mar 03, 2022)
2-27128523-C-T		not specified	Uncertain significance (May 09, 2024)
2-27128956-A-C		not specified	Uncertain significance (Oct 20, 2021)
2-27128983-T-C		not specified	Uncertain significance (Aug 22, 2023)
2-27129077-G-C		not specified	Uncertain significance (Oct 04, 2022)
2-27129105-C-G		not specified	Uncertain significance (Aug 02, 2021)
2-27129514-A-C		not specified	Uncertain significance (May 17, 2023)
2-27129523-G-A		not specified	Uncertain significance (Jun 19, 2024)
2-27129562-G-A		not specified	Uncertain significance (Apr 20, 2024)
2-27129581-G-A		not specified	Uncertain significance (Jan 08, 2024)
2-27129822-C-G		not specified	Uncertain significance (Jan 03, 2024)
2-27130113-A-G		not specified	Uncertain significance (Dec 20, 2023)
2-27130122-A-G		not specified	Uncertain significance (Oct 17, 2024)
2-27130139-G-A		not specified	Uncertain significance (Sep 04, 2024)
2-27130254-C-T		not specified	Uncertain significance (Mar 19, 2024)
2-27130263-C-T		not specified	Uncertain significance (Nov 29, 2024)
2-27130264-G-A		not specified	Uncertain significance (Jul 06, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ABHD1	protein_coding	protein_coding	ENST00000316470	9	6999

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.38e-25	0.00000503	125509	0	239	125748	0.000951

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.948	269	229	1.18	0.0000135	2600
Missense in Polyphen		84	71.492	1.175		862
Synonymous	0.0573	94	94.7	0.993	0.00000548	861
Loss of Function	-2.23	31	20.2	1.53	0.00000105	200

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00204	0.00204
Ashkenazi Jewish	0.00	0.00
East Asian	0.00381	0.00376
Finnish	0.00	0.00
European (Non-Finnish)	0.000909	0.000906
Middle Eastern	0.00381	0.00376
South Asian	0.000523	0.000523
Other	0.000653	0.000652

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0841

Intolerance Scores

• rvis_EVS: -0.11
• rvis_percentile_EVS: 45.49

Haploinsufficiency Scores

• pHI: 0.0247
• hipred: N
• hipred_score: 0.123
• ghis: 0.488

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: 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: Abhd1

Gene ontology

• Biological process: biological_process;cellular lipid metabolic process;medium-chain fatty acid biosynthetic process;medium-chain fatty acid catabolic process
• Cellular component: integral component of membrane
• Molecular function: molecular_function;protein binding;lipase activity;short-chain carboxylesterase activity;acylglycerol lipase activity