FAAH

fatty acid amide hydrolase

Basic information

Region (hg38): 1:46394316-46413848

Links

ENSG00000117480 ∙ NCBI:2166 ∙ OMIM:602935 ∙ HGNC:3553 ∙ Uniprot:O00519 ∙ 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 FAAH gene.

• Inborn genetic diseases (19 variants)
• not provided (17 variants)
• Polysubstance abuse, susceptibility to (1 variants)
• FAAH POLYMORPHISM (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAAH 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				4	4	8
missense			20	2	3	25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					3	3
non coding					1	1
Total	0	0	20	6	8

Variants in FAAH

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

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

Position	Type	Phenotype	Significance	ClinVar
1-46394398-C-T		not specified	Uncertain significance (Dec 19, 2022)
1-46394427-G-C		not specified	Uncertain significance (Apr 25, 2023)
1-46394428-T-C		not specified	Uncertain significance (Oct 20, 2023)
1-46394442-T-G		not specified	Uncertain significance (Nov 08, 2021)
1-46394451-C-G		not specified	Uncertain significance (Sep 13, 2023)
1-46394454-A-C		not specified	Uncertain significance (Sep 17, 2021)
1-46405032-G-A		not specified	Uncertain significance (Jan 26, 2023)
1-46405033-G-A			Benign (Jul 18, 2018)
1-46405089-C-A		FAAH POLYMORPHISM • Polysubstance abuse, susceptibility to • FAAH-related disorder	Benign/Likely benign (Oct 08, 2021)
1-46405097-G-C		not specified	Uncertain significance (Oct 17, 2023)
1-46405396-A-C		not specified	Uncertain significance (Jun 07, 2023)
1-46405416-G-A		FAAH-related disorder	Likely benign (Jun 03, 2019)
1-46405418-C-T		not specified	Uncertain significance (May 05, 2023)
1-46405426-G-A		not specified	Uncertain significance (Dec 16, 2023)
1-46405474-G-A		not specified	Uncertain significance (Jun 07, 2023)
1-46405475-TG-T		Polysubstance abuse, susceptibility to	Likely pathogenic (Mar 29, 2024)
1-46405631-T-C		not specified	Uncertain significance (Apr 13, 2022)
1-46405702-C-G			Benign (Dec 31, 2019)
1-46406041-G-A			Benign (Mar 30, 2018)
1-46406072-G-C		not specified	Uncertain significance (Apr 11, 2023)
1-46406255-G-T		not specified	Uncertain significance (Mar 01, 2023)
1-46406301-G-A			Likely benign (Jul 11, 2018)
1-46406309-C-A		not specified	Uncertain significance (May 27, 2022)
1-46406314-T-T			Benign (Dec 31, 2019)
1-46406328-G-T		not specified	Uncertain significance (Aug 16, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
FAAH	protein_coding	protein_coding	ENST00000243167	15	19584

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.44e-11	0.557	125656	0	92	125748	0.000366

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.638	276	307	0.898	0.0000182	3670
Missense in Polyphen		110	128.47	0.85623		1532
Synonymous	-0.362	139	134	1.04	0.00000834	1216
Loss of Function	1.34	20	27.6	0.725	0.00000130	331

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000335	0.000335
Ashkenazi Jewish	0.000298	0.000298
East Asian	0.000489	0.000489
Finnish	0.00171	0.00171
European (Non-Finnish)	0.000230	0.000229
Middle Eastern	0.000489	0.000489
South Asian	0.000329	0.000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Degrades bioactive fatty acid amides like oleamide, the endogenous cannabinoid, anandamide and myristic amide to their corresponding acids, thereby serving to terminate the signaling functions of these molecules. Hydrolyzes polyunsaturated substrate anandamide preferentially as compared to monounsaturated substrates. {ECO:0000269|PubMed:17015445}.
• Pathway: Retrograde endocannabinoid signaling - Homo sapiens (human);Cannabinoid receptor signaling;Gastric ulcer formation;metabolism of anandamide an endogenous cannabinoid;Metabolism of lipids;anandamide degradation;Arachidonic acid metabolism;Metabolism;Fatty acid metabolism (Consensus)

Recessive Scores

• pRec: 0.162

Intolerance Scores

• loftool: 0.812
• rvis_EVS: -0.47
• rvis_percentile_EVS: 23.43

Haploinsufficiency Scores

• pHI: 0.112
• hipred: N
• hipred_score: 0.387
• ghis: 0.553

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.754

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Faah
• Phenotype: integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype; muscle 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); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan)

Gene ontology

• Biological process: fatty acid catabolic process;arachidonic acid metabolic process
• Cellular component: endoplasmic reticulum membrane;cytoskeleton;integral component of membrane;organelle membrane
• Molecular function: amidase activity;protein binding;fatty acid amide hydrolase activity;acylglycerol lipase activity;oleamide hydrolase activity;anandamide amidohydrolase activity