ABHD1

protein-coding

abhydrolase domain containing 1, the group of Abhydrolase domain containing

Gene summary

This gene is a member of the AB hydrolase superfamily and encodes a protein with an alpha/beta hydrolase fold. This domain is common to a number of hydrolytic enzymes of widely differing phylogenetic origins and catalytic functions. [provided by RefSeq, Jul 2008]

MANE transcript

NM_032604.4

Inheritance

—

ClinVar variants

U:77B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 1.53

Max pathogenic AF

—

Genomic locus

chr2:27,123,789-27,130,812

External References & Databases

Ensembl (ENSG00000143994)

Transcript & Mutation Effects

hg38 • Region Span ~7.0 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ABHD1 variants in ClinVar

1 Conditions Cataloged

not specifiedTotal: 75

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_032604.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			1 clinvar			1
missense			75 clinvar	2 clinvar		77
nonsense			1 clinvar			1
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	77	2	0	79

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_032604.4	RefSeq	NP_115993.3	9	MANE Select
ENST00000316470.9	Ensembl	ENSP00000326491.4	9	MANE Select
ENST00000416071.1	Ensembl	ENSP00000397522.1	5	Standard
ENST00000420647.5	Ensembl	ENSP00000390390.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

biological_process
cellular lipid metabolic process
medium-chain fatty acid biosynthetic process
medium-chain fatty acid catabolic process

Molecular Function

molecular_function
protein binding
lipase activity
short-chain carboxylesterase activity
acylglycerol lipase activity

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000316470
Coding exons: 9
Length: 6999
Individuals with no LoFs: 125509
Homozygous LoFs: 0
Heterozygous LoFs: 239
Defined: 125748
p: 0.000951

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.948	269	229	1.18	0.0000135	2600
Missense (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

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0013	0.0013	notable
Latino/Admixed American	0.00075	0.00075	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0038	0.0038	notable
Finnish	0	0.0	absent
European (Non-Finnish)	0.00091	0.00091	rare
South Asian	0.00052	0.00052	rare
Other	0.00065	0.00065	rare

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0841

Intolerance Scores

RVIS EVS: -0.11
RVIS percentile EVS: 45.49

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.114

Gene Damage Prediction

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