FAAH

fatty acid amide hydrolase

Basic information

Region (hg38): 1:46394317-46413848

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.

• not_specified (60 variants)
• not_provided (16 variants)
• FAAH-related_disorder (2 variants)
• Polysubstance_abuse,_susceptibility_to (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. These statistics are base on transcript: NM_000001441.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			2	5	6	13
missense			56	6	3	65
nonsense			2			2
start loss						0
frameshift		1	1			2
splice donor/acceptor (+/-2bp)			7			7
Total	0	1	68	11	9

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
		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

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

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