FAAH (fatty acid amide hydrolase) - Rat Genome Database

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Gene: FAAH (fatty acid amide hydrolase) Homo sapiens
Analyze
Symbol: FAAH
Name: fatty acid amide hydrolase
RGD ID: 737052
HGNC Page HGNC:3553
Description: Enables fatty acid amide hydrolase activity. Involved in fatty acid catabolic process. Predicted to be located in organelle membrane. Implicated in obesity and substance-related disorder.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: anandamide amidohydrolase 1; FAAH-1; FAAH1; fatty acid ester hydrolase; fatty-acid amide hydrolase 1; MGC102823; MGC138146; oleamide hydrolase 1; PSAB
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: FAAHP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38146,394,317 - 46,413,845 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl146,394,317 - 46,413,848 (+)EnsemblGRCh38hg38GRCh38
GRCh37146,859,989 - 46,879,517 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36146,632,575 - 46,652,104 (+)NCBINCBI36Build 36hg18NCBI36
Build 34146,572,011 - 46,591,536NCBI
Celera145,147,299 - 45,166,880 (+)NCBICelera
Cytogenetic Map1p33NCBI
HuRef144,975,524 - 44,995,057 (+)NCBIHuRef
CHM1_1146,976,965 - 46,996,516 (+)NCBICHM1_1
T2T-CHM13v2.0146,271,530 - 46,291,059 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dinitrobenzenesulfonic acid  (ISO)
2,4-dinitrotoluene  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
4-phenylbutyric acid  (EXP)
5-methoxy-2-\{[(4-methoxy-3,5-dimethylpyridin-2-yl)methyl]sulfinyl\}-1H-benzimidazole  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (ISO)
amiodarone  (ISO)
ammonium chloride  (ISO)
amphetamine  (EXP,ISO)
anandamide  (ISO)
antalarmin  (ISO)
arachidonic acid  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
atrazine  (EXP)
benzbromarone  (ISO)
benzo[a]pyrene  (EXP)
Benzyl parahydroxybenzoate  (EXP,ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
Butylparaben  (EXP,ISO)
cannabidiol  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cisplatin  (ISO)
clofibrate  (ISO)
corticosterone  (ISO)
Cuprizon  (ISO)
Cyclopamine  (ISO)
dextran sulfate  (ISO)
diazinon  (ISO)
dichlorine  (ISO)
diuron  (ISO)
dizocilpine maleate  (ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fenitrothion  (ISO)
fenthion  (ISO)
flavonoids  (ISO)
fluoxetine  (ISO)
flurbiprofen  (ISO)
flutamide  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
heptachlor  (ISO)
Heptachlor epoxide  (ISO)
ibuprofen  (ISO)
indometacin  (ISO)
L-ethionine  (ISO)
leflunomide  (ISO)
lipopolysaccharide  (ISO)
maneb  (ISO)
mechlorethamine  (ISO)
methamidophos  (ISO)
methamphetamine  (ISO)
methidathion  (ISO)
Methylazoxymethanol acetate  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
Niflumic acid  (ISO)
nimesulide  (ISO)
nitroglycerin  (ISO)
omeprazole  (ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraoxon  (ISO)
paraquat  (ISO)
parathion  (ISO)
pentachlorophenol  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
phenylmethanesulfonyl fluoride  (ISO)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
profenofos  (ISO)
progesterone  (EXP)
propylparaben  (EXP)
rimonabant  (ISO)
SCH 23390  (ISO)
selenium atom  (EXP)
serotonin  (ISO)
silibinin  (ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sunitinib  (EXP)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thapsigargin  (ISO)
thioacetamide  (ISO)
tribufos  (ISO)
triptonide  (ISO)
trovafloxacin  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
WIN 55212-2  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Overweight  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. The fatty acid amide hydrolase 385 A/A (P129T) variant: haplotype analysis of an ancient missense mutation and validation of risk for drug addiction. Flanagan JM, etal., Hum Genet. 2006 Nov;120(4):581-8. Epub 2006 Sep 14.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. Overweight and obesity associated with a missense polymorphism in fatty acid amide hydrolase (FAAH). Sipe JC, etal., Int J Obes (Lond). 2005 Jul;29(7):755-9.
7. A missense mutation in human fatty acid amide hydrolase associated with problem drug use. Sipe JC, etal., Proc Natl Acad Sci U S A 2002 Jun 11;99(12):8394-9.
Additional References at PubMed
PMID:9122178   PMID:9790682   PMID:9822713   PMID:9871570   PMID:9878243   PMID:10036136   PMID:10431820   PMID:10788462   PMID:10806398   PMID:11352748   PMID:11390466   PMID:11818522  
PMID:12008024   PMID:12153574   PMID:12477932   PMID:12556536   PMID:12665801   PMID:12799380   PMID:14657172   PMID:15219977   PMID:15254019   PMID:15489334   PMID:15721218   PMID:16710414  
PMID:17065342   PMID:17216208   PMID:17290447   PMID:17342744   PMID:17449448   PMID:17553686   PMID:17621164   PMID:17712725   PMID:17962356   PMID:17991615   PMID:18029348   PMID:18068305  
PMID:18295974   PMID:18493729   PMID:18497731   PMID:18566995   PMID:18705688   PMID:18805581   PMID:18819056   PMID:19002671   PMID:19014633   PMID:19053981   PMID:19086053   PMID:19095868  
PMID:19103437   PMID:19165169   PMID:19193342   PMID:19419760   PMID:19659925   PMID:19801960   PMID:19859057   PMID:19874574   PMID:19890266   PMID:19913121   PMID:19958092   PMID:20010552  
PMID:20010914   PMID:20015515   PMID:20044928   PMID:20054193   PMID:20056290   PMID:20065978   PMID:20080186   PMID:20098695   PMID:20099163   PMID:20102775   PMID:20189896   PMID:20369362  
PMID:20628086   PMID:20631561   PMID:20716455   PMID:20808855   PMID:20870184   PMID:20976246   PMID:21037510   PMID:21118518   PMID:21442624   PMID:21477106   PMID:21519771   PMID:21873635  
PMID:21930339   PMID:22035053   PMID:22068813   PMID:22442717   PMID:22609216   PMID:22701012   PMID:22776995   PMID:22826533   PMID:22827915   PMID:22832737   PMID:23122699   PMID:23211960  
PMID:23333123   PMID:23347118   PMID:23372171   PMID:23556448   PMID:23616186   PMID:23926887   PMID:24042479   PMID:24172113   PMID:24223930   PMID:24407958   PMID:24444427   PMID:24445122  
PMID:24593280   PMID:24616451   PMID:24811863   PMID:25270105   PMID:25416956   PMID:25444073   PMID:25456842   PMID:25558980   PMID:25731744   PMID:26036940   PMID:26106535   PMID:26111155  
PMID:26561012   PMID:26738935   PMID:26806592   PMID:26808012   PMID:26857901   PMID:26923505   PMID:26930716   PMID:26948343   PMID:27005594   PMID:27074158   PMID:27240888   PMID:27345297  
PMID:27346075   PMID:27394933   PMID:27716956   PMID:28132572   PMID:28150397   PMID:28243972   PMID:28481838   PMID:29478914   PMID:29652995   PMID:30126012   PMID:30159798   PMID:30291441  
PMID:30929760   PMID:31013550   PMID:31286394   PMID:31292037   PMID:31335650   PMID:31377429   PMID:31382124   PMID:31775159   PMID:31789429   PMID:31914367   PMID:32041998   PMID:32387132  
PMID:32398646   PMID:32968163   PMID:33038759   PMID:33460184   PMID:33729738   PMID:33961781   PMID:34037083   PMID:34051704   PMID:34171108   PMID:34893921   PMID:35064143   PMID:35537858  
PMID:35900294   PMID:36300805   PMID:36372184   PMID:36868890   PMID:37018974   PMID:37253733   PMID:37372343   PMID:37433211   PMID:37761966   PMID:38114812  


Genomics

Comparative Map Data
FAAH
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38146,394,317 - 46,413,845 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl146,394,317 - 46,413,848 (+)EnsemblGRCh38hg38GRCh38
GRCh37146,859,989 - 46,879,517 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36146,632,575 - 46,652,104 (+)NCBINCBI36Build 36hg18NCBI36
Build 34146,572,011 - 46,591,536NCBI
Celera145,147,299 - 45,166,880 (+)NCBICelera
Cytogenetic Map1p33NCBI
HuRef144,975,524 - 44,995,057 (+)NCBIHuRef
CHM1_1146,976,965 - 46,996,516 (+)NCBICHM1_1
T2T-CHM13v2.0146,271,530 - 46,291,059 (+)NCBIT2T-CHM13v2.0
Faah
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm394115,853,866 - 115,876,034 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl4115,824,342 - 115,875,123 (-)EnsemblGRCm39 Ensembl
GRCm384115,996,668 - 116,018,837 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl4115,967,145 - 116,017,926 (-)EnsemblGRCm38mm10GRCm38
MGSCv374115,669,261 - 115,690,507 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv364115,494,600 - 115,515,834 (-)NCBIMGSCv36mm8
Celera4114,735,873 - 114,757,118 (-)NCBICelera
Cytogenetic Map4D1NCBI
cM Map453.08NCBI
Faah
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr85134,716,545 - 134,735,396 (-)NCBIGRCr8
mRatBN7.25129,479,774 - 129,499,018 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl5129,479,824 - 129,498,677 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx5132,096,062 - 132,114,937 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.05133,850,947 - 133,869,822 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.05133,873,084 - 133,891,959 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.05134,852,899 - 134,872,095 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl5134,852,875 - 134,871,775 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.0 Ensembl5134,331,929 - 134,348,995 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.05138,636,638 - 138,655,831 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.45136,310,965 - 136,329,817 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.15136,316,189 - 136,333,987 (+)NCBI
Celera5128,010,075 - 128,029,275 (-)NCBICelera
Cytogenetic Map5q35NCBI
Faah
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546411,873,368 - 11,885,369 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495546411,873,368 - 11,885,366 (-)NCBIChiLan1.0ChiLan1.0
FAAH
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21180,394,843 - 180,414,348 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11179,536,454 - 179,555,961 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0145,697,173 - 45,716,629 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1147,053,436 - 47,072,283 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl147,053,436 - 47,072,283 (+)Ensemblpanpan1.1panPan2
FAAH
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11514,023,111 - 14,040,156 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1514,023,299 - 14,040,212 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1514,143,619 - 14,160,572 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01514,173,706 - 14,190,680 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1514,171,285 - 14,190,759 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11513,974,934 - 13,991,885 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01514,043,437 - 14,060,387 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01514,112,894 - 14,129,901 (-)NCBIUU_Cfam_GSD_1.0
Faah
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440505861,594,374 - 61,616,279 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647427,419,078 - 27,441,039 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647427,419,211 - 27,441,061 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FAAH
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl6165,060,285 - 165,079,767 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.16165,060,279 - 165,079,340 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.26152,539,044 - 152,558,004 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Faah
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046249062,287,985 - 2,313,172 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046249062,288,251 - 2,313,172 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FAAH
38 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001441.3(FAAH):c.385C>A (p.Pro129Thr) single nucleotide variant FAAH POLYMORPHISM [RCV000007116]|FAAH-related condition [RCV003974803]|Polysubstance abuse, susceptibility to [RCV002496290] Chr1:46405089 [GRCh38]
Chr1:46870761 [GRCh37]
Chr1:1p33		 risk factor|benign|likely benign
GRCh38/hg38 1p34.3-33(chr1:39479787-47688131)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051817]|See cases [RCV000051817] Chr1:39479787..47688131 [GRCh38]
Chr1:39945459..48153803 [GRCh37]
Chr1:39718046..47926390 [NCBI36]
Chr1:1p34.3-33		 pathogenic
GRCh38/hg38 1p33(chr1:46366996-46483577)x3 copy number gain See cases [RCV000141210] Chr1:46366996..46483577 [GRCh38]
Chr1:46832668..46949249 [GRCh37]
Chr1:46605255..46721836 [NCBI36]
Chr1:1p33		 uncertain significance
GRCh37/hg19 1p36.12-12(chr1:20608823-120546301)x3 copy number loss not provided [RCV000762767] Chr1:20608823..120546301 [GRCh37]
Chr1:1p36.12-12		 likely benign
GRCh37/hg19 1p34.1-33(chr1:46747177-47280720)x3 copy number gain See cases [RCV000449344] Chr1:46747177..47280720 [GRCh37]
Chr1:1p34.1-33		 uncertain significance
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856)x1 copy number loss See cases [RCV000448358] Chr1:45303358..52157856 [GRCh37]
Chr1:1p34.1-32.3		 likely pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3 copy number gain See cases [RCV000510383] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p34.1-33(chr1:46541307-47088882)x3 copy number gain See cases [RCV000511609] Chr1:46541307..47088882 [GRCh37]
Chr1:1p34.1-33		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684) copy number gain See cases [RCV000510926] Chr1:849467..249224684 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
NM_001441.3(FAAH):c.491C>T (p.Ala164Val) single nucleotide variant Inborn genetic diseases [RCV003272466] Chr1:46405418 [GRCh38]
Chr1:46871090 [GRCh37]
Chr1:1p33		 uncertain significance
NM_001441.3(FAAH):c.1645G>A (p.Val549Met) single nucleotide variant Inborn genetic diseases [RCV003262624] Chr1:46413480 [GRCh38]
Chr1:46879152 [GRCh37]
Chr1:1p33		 uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3 copy number gain not provided [RCV000736295] Chr1:47851..249228449 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3 copy number gain not provided [RCV000736305] Chr1:82154..249218992 [GRCh37]
Chr1:1p36.33-q44		 pathogenic
GRCh37/hg19 1p34.1-33(chr1:46372688-47188150)x3 copy number gain not provided [RCV000736482] Chr1:46372688..47188150 [GRCh37]
Chr1:1p34.1-33		 uncertain significance
NM_001441.3(FAAH):c.693C>G (p.Pro231=) single nucleotide variant not provided [RCV000970945] Chr1:46405702 [GRCh38]
Chr1:46871374 [GRCh37]
Chr1:1p33		 benign
NM_001441.3(FAAH):c.1678T>C (p.Leu560=) single nucleotide variant not provided [RCV000904270] Chr1:46413513 [GRCh38]
Chr1:46879185 [GRCh37]
Chr1:1p33		 benign
NM_001441.3(FAAH):c.927G>A (p.Val309=) single nucleotide variant not provided [RCV000925819] Chr1:46406344 [GRCh38]
Chr1:46872016 [GRCh37]
Chr1:1p33		 likely benign
NM_001441.3(FAAH):c.897= (p.Cys299=) variation not provided [RCV000946463] Chr1:46406314 [GRCh38]
Chr1:46871986 [GRCh37]
Chr1:1p33		 benign
NM_001441.3(FAAH):c.884G>A (p.Arg295Gln) single nucleotide variant not provided [RCV000924671] Chr1:46406301 [GRCh38]
Chr1:46871973 [GRCh37]
Chr1:1p33		 likely benign
NM_001441.3(FAAH):c.789G>A (p.Lys263=) single nucleotide variant not provided [RCV000894668] Chr1:46406041 [GRCh38]
Chr1:46871713 [GRCh37]
Chr1:1p33		 benign
NM_001441.3(FAAH):c.921C>T (p.Pro307=) single nucleotide variant not provided [RCV000938253] Chr1:46406338 [GRCh38]
Chr1:46872010 [GRCh37]
Chr1:1p33		 likely benign
NM_001441.3(FAAH):c.1431T>C (p.Pro477=) single nucleotide variant not provided [RCV000921823] Chr1:46412217 [GRCh38]
Chr1:46877889 [GRCh37]
Chr1:1p33		 likely benign
NM_001441.3(FAAH):c.1316+3A>G single nucleotide variant not provided [RCV000894671] Chr1:46410857 [GRCh38]
Chr1:46876529 [GRCh37]
Chr1:1p33		 benign
NM_001441.3(FAAH):c.1427C>G (p.Ala476Gly) single nucleotide variant not provided [RCV000894673] Chr1:46412213 [GRCh38]
Chr1:46877885 [GRCh37]
Chr1:1p33		 benign
NM_001441.3(FAAH):c.820G>C (p.Glu274Gln) single nucleotide variant Inborn genetic diseases [RCV003248307] Chr1:46406072 [GRCh38]
Chr1:46871744 [GRCh37]
Chr1:1p33		 uncertain significance
NM_001441.3(FAAH):c.1278G>C (p.Leu426=) single nucleotide variant not provided [RCV000894670] Chr1:46410816 [GRCh38]
Chr1:46876488 [GRCh37]
Chr1:1p33		 benign
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3 copy number gain Global developmental delay [RCV000787285] Chr1:103343285..103455144 [GRCh37]
Chr1:1p36.22-21.1		 uncertain significance
GRCh37/hg19 1p34.1-33(chr1:46501759-46898503)x3 copy number gain not provided [RCV001005084] Chr1:46501759..46898503 [GRCh37]
Chr1:1p34.1-33		 uncertain significance
NM_001441.3(FAAH):c.1237T>C (p.Trp413Arg) single nucleotide variant Inborn genetic diseases [RCV003291318] Chr1:46410459 [GRCh38]
Chr1:46876131 [GRCh37]
Chr1:1p33		 uncertain significance
NM_001441.3(FAAH):c.1317T>G (p.Arg439=) single nucleotide variant not provided [RCV000894672] Chr1:46411612 [GRCh38]
Chr1:46877284 [GRCh37]
Chr1:1p33		 benign
NM_001441.3(FAAH):c.1632G>A (p.Gly544=) single nucleotide variant not provided [RCV000894674] Chr1:46413467 [GRCh38]
Chr1:46879139 [GRCh37]
Chr1:1p33		 benign
NM_001441.3(FAAH):c.329G>A (p.Gly110Glu) single nucleotide variant not provided [RCV000879514] Chr1:46405033 [GRCh38]
Chr1:46870705 [GRCh37]
Chr1:1p33		 benign
NM_001441.3(FAAH):c.1067C>T (p.Ala356Val) single nucleotide variant not provided [RCV000894669] Chr1:46408574 [GRCh38]
Chr1:46874246 [GRCh37]
Chr1:1p33		 benign
NM_001441.3(FAAH):c.1353C>T (p.Ile451=) single nucleotide variant not provided [RCV000933758] Chr1:46411648 [GRCh38]
Chr1:46877320 [GRCh37]
Chr1:1p33		 likely benign
GRCh37/hg19 1p34.1-33(chr1:46768408-47174149)x3 copy number gain See cases [RCV001007440] Chr1:46768408..47174149 [GRCh37]
Chr1:1p34.1-33		 uncertain significance
NM_001441.3(FAAH):c.1001A>G (p.Asn334Ser) single nucleotide variant not provided [RCV001726754] Chr1:46408508 [GRCh38]
Chr1:46874180 [GRCh37]
Chr1:1p33		 uncertain significance
GRCh37/hg19 1p34.1-32.3(chr1:45303358-52157856) copy number loss not specified [RCV002053281] Chr1:45303358..52157856 [GRCh37]
Chr1:1p34.1-32.3		 likely pathogenic
GRCh37/hg19 1p35.1-33(chr1:33285582-47891811) copy number gain not specified [RCV002052781] Chr1:33285582..47891811 [GRCh37]
Chr1:1p35.1-33		 pathogenic
NM_001441.3(FAAH):c.469A>C (p.Ser157Arg) single nucleotide variant Inborn genetic diseases [RCV003300211] Chr1:46405396 [GRCh38]
Chr1:46871068 [GRCh37]
Chr1:1p33		 uncertain significance
NM_001441.3(FAAH):c.1687C>T (p.Arg563Trp) single nucleotide variant Inborn genetic diseases [RCV002727525] Chr1:46413522 [GRCh38]
Chr1:46879194 [GRCh37]
Chr1:1p33		 uncertain significance
NM_001441.3(FAAH):c.958A>T (p.Thr320Ser) single nucleotide variant Inborn genetic diseases [RCV002840736] Chr1:46408465 [GRCh38]
Chr1:46874137 [GRCh37]
Chr1:1p33		 uncertain significance
NM_001441.3(FAAH):c.892C>A (p.Leu298Met) single nucleotide variant Inborn genetic diseases [RCV002728981] Chr1:46406309 [GRCh38]
Chr1:46871981 [GRCh37]
Chr1:1p33		 uncertain significance
NM_001441.3(FAAH):c.1480A>C (p.Thr494Pro) single nucleotide variant Inborn genetic diseases [RCV002772897] Chr1:46413089 [GRCh38]
Chr1:46878761 [GRCh37]
Chr1:1p33		 uncertain significance
NM_001441.3(FAAH):c.911G>T (p.Arg304Leu) single nucleotide variant Inborn genetic diseases [RCV002737993] Chr1:46406328 [GRCh38]
Chr1:46872000 [GRCh37]
Chr1:1p33		 uncertain significance
NM_001441.3(FAAH):c.94T>G (p.Ser32Ala) single nucleotide variant Inborn genetic diseases [RCV002738157] Chr1:46394442 [GRCh38]
Chr1:46860114 [GRCh37]
Chr1:1p33		 uncertain significance
NM_001441.3(FAAH):c.106A>C (p.Thr36Pro) single nucleotide variant Inborn genetic diseases [RCV002764568] Chr1:46394454 [GRCh38]
Chr1:46860126 [GRCh37]
Chr1:1p33		 uncertain significance
NM_001441.3(FAAH):c.50C>T (p.Ala17Val) single nucleotide variant Inborn genetic diseases [RCV002989612] Chr1:46394398 [GRCh38]
Chr1:46860070 [GRCh37]
Chr1:1p33		 uncertain significance
NM_001441.3(FAAH):c.622T>C (p.Trp208Arg) single nucleotide variant Inborn genetic diseases [RCV002652922] Chr1:46405631 [GRCh38]
Chr1:46871303 [GRCh37]
Chr1:1p33		 uncertain significance
NM_001441.3(FAAH):c.838G>T (p.Val280Leu) single nucleotide variant Inborn genetic diseases [RCV003218189] Chr1:46406255 [GRCh38]
Chr1:46871927 [GRCh37]
Chr1:1p33		 uncertain significance
NM_001441.3(FAAH):c.328G>A (p.Gly110Arg) single nucleotide variant Inborn genetic diseases [RCV003191054] Chr1:46405032 [GRCh38]
Chr1:46870704 [GRCh37]
Chr1:1p33		 uncertain significance
NM_001441.3(FAAH):c.547G>A (p.Val183Met) single nucleotide variant Inborn genetic diseases [RCV003300406] Chr1:46405474 [GRCh38]
Chr1:46871146 [GRCh37]
Chr1:1p33		 uncertain significance
NM_001441.3(FAAH):c.79G>C (p.Val27Leu) single nucleotide variant Inborn genetic diseases [RCV003283821] Chr1:46394427 [GRCh38]
Chr1:46860099 [GRCh37]
Chr1:1p33		 uncertain significance
NM_001441.3(FAAH):c.103C>G (p.Arg35Gly) single nucleotide variant Inborn genetic diseases [RCV003342563] Chr1:46394451 [GRCh38]
Chr1:46860123 [GRCh37]
Chr1:1p33		 uncertain significance
Single allele inversion Bilateral polymicrogyria [RCV003459046] Chr1:33246132..61045156 [GRCh38]
Chr1:1p35.1-31.3		 likely pathogenic
NM_001441.3(FAAH):c.489G>A (p.Pro163=) single nucleotide variant FAAH-related condition [RCV003939831] Chr1:46405416 [GRCh38]
Chr1:46871088 [GRCh37]
Chr1:1p33		 likely benign
NM_001441.3(FAAH):c.1357-5C>T single nucleotide variant FAAH-related condition [RCV003974093] Chr1:46412138 [GRCh38]
Chr1:46877810 [GRCh37]
Chr1:1p33		 benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2028
Count of miRNA genes:816
Interacting mature miRNAs:989
Transcripts:ENST00000243167, ENST00000468718, ENST00000484697, ENST00000489366, ENST00000493636, ENST00000493735
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
SHGC-74781  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37146,879,393 - 46,879,517UniSTSGRCh37
Build 36146,651,980 - 46,652,104RGDNCBI36
Celera145,166,753 - 45,166,877RGD
Cytogenetic Map1p35-p34UniSTS
HuRef144,994,930 - 44,995,054UniSTS
TNG Radiation Hybrid Map125649.0UniSTS
GeneMap99-GB4 RH Map1145.3UniSTS
Whitehead-RH Map1162.3UniSTS
FAAH  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37146,871,264 - 46,871,459UniSTSGRCh37
Celera145,158,624 - 45,158,819UniSTS
HuRef144,986,893 - 44,987,088UniSTS
MARC_26106-26107:1032553127:3  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37146,877,855 - 46,878,789UniSTSGRCh37
Celera145,165,215 - 45,166,149UniSTS
HuRef144,993,392 - 44,994,326UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 1739 769 1665 579 371 419 3187 739 3427 335 1231 1430 169 835 1949 3
Low 696 2210 57 43 1550 44 1135 1444 303 81 224 168 6 1 369 839 2 2
Below cutoff 4 12 3 1 27 1 34 14 2 3 4 15

Sequence


Reference Sequences
RefSeq Acc Id: ENST00000243167   ⟹   ENSP00000243167
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,394,317 - 46,413,845 (+)Ensembl
RefSeq Acc Id: ENST00000468718
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,394,329 - 46,405,789 (+)Ensembl
RefSeq Acc Id: ENST00000484697   ⟹   ENSP00000481641
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,405,723 - 46,413,848 (+)Ensembl
RefSeq Acc Id: ENST00000489366
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,406,038 - 46,409,288 (+)Ensembl
RefSeq Acc Id: ENST00000493636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,410,052 - 46,411,651 (+)Ensembl
RefSeq Acc Id: ENST00000493735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl146,394,371 - 46,409,198 (+)Ensembl
RefSeq Acc Id: NM_001441   ⟹   NP_001432
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,394,317 - 46,413,845 (+)NCBI
GRCh37146,859,939 - 46,879,520 (+)ENTREZGENE
GRCh37146,859,939 - 46,879,520 (+)NCBI
Build 36146,632,575 - 46,652,104 (+)NCBI Archive
HuRef144,975,524 - 44,995,057 (+)ENTREZGENE
CHM1_1146,976,965 - 46,996,516 (+)NCBI
T2T-CHM13v2.0146,271,530 - 46,291,059 (+)NCBI
Sequence:
Reference Protein Sequences
RefSeq Acc Id: NP_001432   ⟸   NM_001441
- UniProtKB: Q52M86 (UniProtKB/Swiss-Prot),   D3DQ19 (UniProtKB/Swiss-Prot),   Q5TDF8 (UniProtKB/Swiss-Prot),   O00519 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000243167   ⟸   ENST00000243167
RefSeq Acc Id: ENSP00000481641   ⟸   ENST00000484697
Protein Domains
Amidase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00519-F1-model_v2 AlphaFold O00519 1-579 view protein structure

Promoters
RGD ID:6855420
Promoter ID:EPDNEW_H875
Type:initiation region
Name:FAAH_4
Description:fatty acid amide hydrolase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H874  EPDNEW_H876  EPDNEW_H877  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,393,789 - 46,393,849EPDNEW
RGD ID:6855422
Promoter ID:EPDNEW_H876
Type:multiple initiation site
Name:FAAH_3
Description:fatty acid amide hydrolase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H874  EPDNEW_H875  EPDNEW_H877  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,394,047 - 46,394,107EPDNEW
RGD ID:6855424
Promoter ID:EPDNEW_H877
Type:initiation region
Name:FAAH_1
Description:fatty acid amide hydrolase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H874  EPDNEW_H875  EPDNEW_H876  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38146,394,317 - 46,394,377EPDNEW
RGD ID:6785538
Promoter ID:HG_KWN:2561
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:ENST00000396325,   OTTHUMT00000021443,   OTTHUMT00000021445,   OTTHUMT00000021446
Position:
Human AssemblyChrPosition (strand)Source
Build 36146,632,376 - 46,632,876 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3553 AgrOrtholog
COSMIC FAAH COSMIC
Ensembl Genes ENSG00000117480 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000243167 ENTREZGENE
  ENST00000243167.9 UniProtKB/Swiss-Prot
  ENST00000484697.5 UniProtKB/TrEMBL
Gene3D-CATH 3.90.1300.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000117480 GTEx
HGNC ID HGNC:3553 ENTREZGENE
Human Proteome Map FAAH Human Proteome Map
InterPro Amidase_CS UniProtKB/Swiss-Prot
  Amidase_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AS_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:2166 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 2166 ENTREZGENE
OMIM 602935 OMIM
PANTHER FATTY ACID AMIDE HYDROLASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FATTY ACID AMIDE HYDROLASE UniProtKB/TrEMBL
  PTHR45847:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Amidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27955 PharmGKB
PIRSF Amidase_fungi UniProtKB/Swiss-Prot
PROSITE AMIDASES UniProtKB/Swiss-Prot
Superfamily-SCOP SSF75304 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087WYA0_HUMAN UniProtKB/TrEMBL
  D3DQ19 ENTREZGENE
  FAAH1_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q52M86 ENTREZGENE
  Q5TDF8 ENTREZGENE
  Q9UG55_HUMAN UniProtKB/TrEMBL
UniProt Secondary D3DQ19 UniProtKB/Swiss-Prot
  Q52M86 UniProtKB/Swiss-Prot
  Q5TDF8 UniProtKB/Swiss-Prot