FAAH2
Basic information
Region (hg38): X:57286705-57489193
Previous symbols: [ "AMDD" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (25 variants)
- not provided (15 variants)
- not specified (3 variants)
- FAAH2-related condition (2 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAAH2 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 | 3 | |||||
| missense | 29 | 35 | ||||
| nonsense | 1 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 1 | |||||
| splice region ? | 1 | 1 | 2 | |||
| non coding ? | 1 | |||||
| Total | 1 | 0 | 30 | 6 | 4 |
Variants in FAAH2
This is a list of pathogenic ClinVar variants found in the FAAH2 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| FAAH2 | protein_coding | protein_coding | ENST00000374900 | 11 | 202491 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 1.89e-21 | 0.0000307 | 125393 | 118 | 232 | 125743 | 0.00139 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -3.63 | 325 | 186 | 1.75 | 0.0000129 | 3428 |
| Missense in Polyphen | 93 | 60.035 | 1.5491 | 1027 | ||
| Synonymous | -4.66 | 115 | 66.6 | 1.73 | 0.00000445 | 1054 |
| Loss of Function | -2.20 | 26 | 16.4 | 1.59 | 0.00000117 | 319 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.00379 | 0.00357 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.00187 | 0.00136 |
| Finnish | 0.0000635 | 0.0000462 |
| European (Non-Finnish) | 0.00267 | 0.00191 |
| Middle Eastern | 0.00187 | 0.00136 |
| South Asian | 0.000746 | 0.000425 |
| Other | 0.00137 | 0.000978 |
dbNSFP
Source:
- 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 monounsaturated substrate anandamide preferentially as compared to polyunsaturated substrates. {ECO:0000269|PubMed:17015445}.;
- Pathway
- Metabolism of lipids;anandamide degradation;Arachidonic acid metabolism;Metabolism;Fatty acid metabolism
(Consensus)
Recessive Scores
- pRec
- 0.110
Intolerance Scores
- loftool
- 0.922
- rvis_EVS
- -0.29
- rvis_percentile_EVS
- 33.42
Haploinsufficiency Scores
- pHI
- 0.171
- hipred
- N
- hipred_score
- 0.187
- ghis
- 0.495
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.180
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Gene ontology
- Biological process
- arachidonic acid metabolic process
- Cellular component
- lipid droplet;integral component of membrane
- Molecular function
- fatty acid amide hydrolase activity;oleamide hydrolase activity;anandamide amidohydrolase activity