AOX1 (aldehyde oxidase 1) - Rat Genome Database

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Gene: AOX1 (aldehyde oxidase 1) Homo sapiens
Analyze
Symbol: AOX1
Name: aldehyde oxidase 1
RGD ID: 733539
HGNC Page HGNC:553
Description: Enables several functions, including 2 iron, 2 sulfur cluster binding activity; ion binding activity; and molybdopterin cofactor binding activity. Involved in xenobiotic metabolic process. Located in cytosol. Implicated in amyotrophic lateral sclerosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: aldehyde oxidase; AO; AOH1; azaheterocycle hydroxylase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382200,586,014 - 200,682,241 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2200,586,014 - 200,677,064 (+)EnsemblGRCh38hg38GRCh38
GRCh372201,450,737 - 201,536,218 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362201,158,976 - 201,244,463 (+)NCBINCBI36Build 36hg18NCBI36
Build 342201,276,043 - 201,361,720NCBI
Celera2195,205,613 - 195,291,094 (+)NCBICelera
Cytogenetic Map2q33.1NCBI
HuRef2193,302,067 - 193,387,763 (+)NCBIHuRef
CHM1_12201,456,717 - 201,542,113 (+)NCBICHM1_1
T2T-CHM13v2.02201,069,494 - 201,165,683 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(1->4)-beta-D-glucan  (ISO)
1,1-dichloroethene  (ISO)
1,4-dioxane  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-dichloroaniline  (EXP)
3-chloropropane-1,2-diol  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxynon-2-enal  (ISO)
6alpha-methylprednisolone  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinol  (ISO)
alpha-D-galactose  (EXP)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
atrazine  (ISO)
azathioprine  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
Bisphenol B  (EXP)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
cadmium sulfide  (EXP)
caffeine  (EXP)
carbon nanotube  (ISO)
carbonyl sulfide  (ISO)
cerium trichloride  (EXP)
CGP 52608  (EXP)
chenodeoxycholic acid  (EXP)
chitosan  (ISO)
chlorohydrocarbon  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clobetasol  (ISO)
cobalt dichloride  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP,ISO)
cyfluthrin  (EXP)
deoxycholic acid  (EXP)
dexamethasone  (EXP,ISO)
diallyl trisulfide  (EXP)
dibenzofurans  (ISO)
dicrotophos  (EXP)
dieldrin  (ISO)
dioxygen  (ISO)
diquat  (ISO)
diuron  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (ISO)
epoxiconazole  (ISO)
ethanol  (EXP,ISO)
fipronil  (ISO)
flutamide  (ISO)
fulvestrant  (EXP)
galactose  (EXP)
glycidol  (ISO)
glycochenodeoxycholic acid  (EXP)
glycocholic acid  (EXP)
glycodeoxycholic acid  (EXP)
indometacin  (EXP,ISO)
inulin  (ISO)
isobutanol  (EXP)
isoflavones  (EXP)
isoprenaline  (ISO)
ketoconazole  (ISO)
leflunomide  (ISO)
melatonin  (EXP)
menadione  (EXP)
mercury dibromide  (EXP)
methapyrilene  (ISO)
methotrexate  (EXP)
methylmercury chloride  (EXP,ISO)
microcystin-LR  (ISO)
mitomycin C  (EXP)
mono(2-ethylhexyl) phthalate  (EXP)
N-methylformamide  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (EXP,ISO)
nickel sulfate  (EXP)
nitrogen dioxide  (EXP)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
p-toluidine  (ISO)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pentachlorophenol  (ISO)
pentanal  (EXP)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
permethrin  (EXP,ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
phlorizin  (ISO)
phytoestrogen  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
prednisolone  (EXP)
progesterone  (EXP,ISO)
propanal  (EXP)
quercetin  (EXP)
raloxifene  (EXP)
resveratrol  (ISO)
rofecoxib  (EXP)
SB 431542  (EXP)
selenium atom  (ISO)
silicon dioxide  (EXP,ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium aurothiomalate  (EXP)
succimer  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
topotecan  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
tungstate  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vincaleukoblastine  (EXP)
zaleplon  (EXP)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component
cytoplasm  (IEA)
cytosol  (IDA,TAS)
extracellular exosome  (HDA)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Analysis of aldehyde oxidase and xanthine dehydrogenase/oxidase as possible candidate genes for autosomal recessive familial amyotrophic lateral sclerosis. Berger R, etal., Somat Cell Mol Genet 1995 Mar;21(2):121-31.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:8043023   PMID:8248161   PMID:8889548   PMID:11302742   PMID:12054535   PMID:12477932   PMID:16712791   PMID:17992631   PMID:18029348   PMID:19056867   PMID:19500084   PMID:19741035  
PMID:19898482   PMID:20351267   PMID:20379614   PMID:20444863   PMID:20800603   PMID:21873635   PMID:21988832   PMID:22031625   PMID:22279051   PMID:22449649   PMID:22495427   PMID:22522748  
PMID:22996261   PMID:23263164   PMID:23857892   PMID:23918943   PMID:25537183   PMID:25845827   PMID:26032640   PMID:26322824   PMID:26842593   PMID:26845356   PMID:28606603   PMID:28750088  
PMID:30097533   PMID:30289108   PMID:30293322   PMID:30367827   PMID:30985987   PMID:31383940   PMID:31753913   PMID:31768259   PMID:31993760   PMID:32470878   PMID:35354150   PMID:35944360  
PMID:37827455   PMID:38199597  


Genomics

Comparative Map Data
AOX1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382200,586,014 - 200,682,241 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2200,586,014 - 200,677,064 (+)EnsemblGRCh38hg38GRCh38
GRCh372201,450,737 - 201,536,218 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 362201,158,976 - 201,244,463 (+)NCBINCBI36Build 36hg18NCBI36
Build 342201,276,043 - 201,361,720NCBI
Celera2195,205,613 - 195,291,094 (+)NCBICelera
Cytogenetic Map2q33.1NCBI
HuRef2193,302,067 - 193,387,763 (+)NCBIHuRef
CHM1_12201,456,717 - 201,542,113 (+)NCBICHM1_1
T2T-CHM13v2.02201,069,494 - 201,165,683 (+)NCBIT2T-CHM13v2.0
Aox1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39158,068,963 - 58,145,569 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl158,069,090 - 58,145,572 (+)EnsemblGRCm39 Ensembl
GRCm38158,029,809 - 58,106,410 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl158,029,931 - 58,106,413 (+)EnsemblGRCm38mm10GRCm38
MGSCv37158,086,813 - 58,163,254 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36157,974,550 - 58,050,959 (+)NCBIMGSCv36mm8
Celera158,543,669 - 58,620,236 (+)NCBICelera
Cytogenetic Map1C1.3NCBI
cM Map128.86NCBI
Aox1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8967,073,831 - 67,152,980 (+)NCBIGRCr8
mRatBN7.2959,579,621 - 59,658,772 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl959,579,649 - 59,658,770 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx968,079,746 - 68,155,526 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0973,195,659 - 73,271,431 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0971,513,768 - 71,589,528 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0964,929,682 - 65,007,872 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl964,929,721 - 65,007,870 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0964,726,609 - 64,804,786 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4956,693,698 - 56,774,115 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1956,840,679 - 56,921,097 (+)NCBI
Celera957,025,110 - 57,102,310 (+)NCBICelera
Cytogenetic Map9q31NCBI
Aox1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_004955403828,066 - 872,218 (-)EnsemblChiLan1.0
ChiLan1.0NW_004955403827,538 - 875,856 (-)NCBIChiLan1.0ChiLan1.0
AOX1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v213103,208,614 - 103,294,161 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12B103,223,614 - 103,309,164 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v02B87,839,376 - 87,924,823 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.12B205,996,604 - 206,083,897 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2B205,996,604 - 206,083,897 (+)Ensemblpanpan1.1panPan2
AOX2
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1379,912,731 - 9,992,322 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl379,913,675 - 9,992,319 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3710,799,110 - 10,877,517 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0379,818,121 - 9,897,733 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl379,819,065 - 9,897,732 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1379,800,648 - 9,879,251 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0379,778,952 - 9,857,094 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0379,772,362 - 9,850,965 (+)NCBIUU_Cfam_GSD_1.0
Aox1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405303157,695,152 - 157,763,851 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936825263,081 - 332,622 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936825263,725 - 332,424 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
AOX1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl15104,157,527 - 104,236,006 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.115104,157,748 - 104,234,533 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.215115,429,739 - 115,506,114 (+)NCBISscrofa10.2Sscrofa10.2susScr3

Variants

.
Variants in AOX1
63 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1 copy number loss See cases [RCV000050980] Chr2:174898848..203941548 [GRCh38]
Chr2:175763576..204806271 [GRCh37]
Chr2:175471822..204514516 [NCBI36]
Chr2:2q31.1-33.2		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3 copy number gain See cases [RCV000051119] Chr2:194898783..236473913 [GRCh38]
Chr2:195763507..237382556 [GRCh37]
Chr2:195471752..237047295 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:198095810-211803453)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052603]|See cases [RCV000052603] Chr2:198095810..211803453 [GRCh38]
Chr2:198960534..212668178 [GRCh37]
Chr2:198668779..212376423 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q33.1-33.2(chr2:200520961-203566211)x1 copy number loss See cases [RCV000052605] Chr2:200520961..203566211 [GRCh38]
Chr2:201385684..204430934 [GRCh37]
Chr2:201093929..204139179 [NCBI36]
Chr2:2q33.1-33.2		 pathogenic
GRCh38/hg38 2q31.1-33.1(chr2:176304445-202039790)x1 copy number loss See cases [RCV000052558] Chr2:176304445..202039790 [GRCh38]
Chr2:177169173..202904513 [GRCh37]
Chr2:176877419..202612758 [NCBI36]
Chr2:2q31.1-33.1		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3 copy number gain See cases [RCV000052958] Chr2:188818195..242065208 [GRCh38]
Chr2:189682921..243007359 [GRCh37]
Chr2:189391166..242656032 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3 copy number gain See cases [RCV000052959] Chr2:190310736..241892770 [GRCh38]
Chr2:191175462..242834921 [GRCh37]
Chr2:190883707..242483594 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q32.3-37.3(chr2:193122313-241074980)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052960]|See cases [RCV000052960] Chr2:193122313..241074980 [GRCh38]
Chr2:193987039..242014395 [GRCh37]
Chr2:193695284..241663068 [NCBI36]
Chr2:2q32.3-37.3		 pathogenic
NM_001159.3(AOX1):c.3833C>T (p.Ser1278Phe) single nucleotide variant Malignant melanoma [RCV000065356] Chr2:200669609 [GRCh38]
Chr2:201534332 [GRCh37]
Chr2:201242577 [NCBI36]
Chr2:2q33.1		 not provided
NM_001159.3(AOX1):c.3805G>A (p.Gly1269Arg) single nucleotide variant Malignant melanoma [RCV000060452] Chr2:200669581 [GRCh38]
Chr2:201534304 [GRCh37]
Chr2:201242549 [NCBI36]
Chr2:2q33.1		 not provided
GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1 copy number loss See cases [RCV000135341] Chr2:195660594..203969488 [GRCh38]
Chr2:196525318..204834211 [GRCh37]
Chr2:196233563..204542456 [NCBI36]
Chr2:2q32.3-33.2		 pathogenic
GRCh38/hg38 2q33.1(chr2:197400023-202089348)x1 copy number loss See cases [RCV000135665] Chr2:197400023..202089348 [GRCh38]
Chr2:198264747..202954071 [GRCh37]
Chr2:197972992..202662316 [NCBI36]
Chr2:2q33.1		 likely pathogenic
GRCh38/hg38 2q32.1-33.1(chr2:186027472-201059372)x1 copy number loss See cases [RCV000135876] Chr2:186027472..201059372 [GRCh38]
Chr2:186892199..201924095 [GRCh37]
Chr2:186600444..201632340 [NCBI36]
Chr2:2q32.1-33.1		 pathogenic
GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1 copy number loss See cases [RCV000136596] Chr2:198767347..202353840 [GRCh38]
Chr2:199632071..203218563 [GRCh37]
Chr2:199340316..202926808 [NCBI36]
Chr2:2q33.1		 pathogenic
GRCh38/hg38 2q33.1(chr2:200346708-201156417)x1 copy number loss See cases [RCV000136891] Chr2:200346708..201156417 [GRCh38]
Chr2:201211431..202021140 [GRCh37]
Chr2:200919676..201729385 [NCBI36]
Chr2:2q33.1		 pathogenic
GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3 copy number gain See cases [RCV000139446] Chr2:180513793..224302848 [GRCh38]
Chr2:181378520..225167565 [GRCh37]
Chr2:181086765..224875809 [NCBI36]
Chr2:2q31.3-36.2		 pathogenic
GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1 copy number loss See cases [RCV000141254] Chr2:192938826..215705052 [GRCh38]
Chr2:193803552..216569775 [GRCh37]
Chr2:193511797..216278020 [NCBI36]
Chr2:2q32.3-35		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1 copy number loss See cases [RCV000141076] Chr2:199946494..209985195 [GRCh38]
Chr2:200811217..210849919 [GRCh37]
Chr2:200519462..210558164 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3 copy number gain See cases [RCV000142307] Chr2:189436149..241841232 [GRCh38]
Chr2:190300875..242783384 [GRCh37]
Chr2:190009120..242432057 [NCBI36]
Chr2:2q32.2-37.3		 pathogenic
GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1 copy number loss See cases [RCV000143301] Chr2:199937273..210031924 [GRCh38]
Chr2:200801996..210896648 [GRCh37]
Chr2:200510241..210604893 [NCBI36]
Chr2:2q33.1-34		 pathogenic
GRCh37/hg19 2q33.1(chr2:200250898-201845999)x3 copy number gain Premature ovarian failure [RCV000225154] Chr2:200250898..201845999 [GRCh37]
Chr2:2q33.1		 uncertain significance
GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3 copy number gain See cases [RCV000240410] Chr2:200776457..203070949 [GRCh37]
Chr2:2q33.1		 uncertain significance
GRCh37/hg19 2p25.3-q37.3(chr2:14238-243048760)x3 copy number gain not provided [RCV000752802] Chr2:14238..243048760 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2q32.3-33.1(chr2:194581315-201752422)x1 copy number loss See cases [RCV000446984] Chr2:194581315..201752422 [GRCh37]
Chr2:2q32.3-33.1		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)x3 copy number gain See cases [RCV000448271] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384) copy number gain See cases [RCV000512056] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3 copy number gain See cases [RCV000511212] Chr2:12771..242783384 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001159.4(AOX1):c.2044T>G (p.Ser682Ala) single nucleotide variant Inborn genetic diseases [RCV003242530] Chr2:200623903 [GRCh38]
Chr2:201488626 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.596C>T (p.Pro199Leu) single nucleotide variant Inborn genetic diseases [RCV003255038] Chr2:200604024 [GRCh38]
Chr2:201468747 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.2758T>C (p.Phe920Leu) single nucleotide variant Inborn genetic diseases [RCV003291039] Chr2:200642712 [GRCh38]
Chr2:201507435 [GRCh37]
Chr2:2q33.1		 likely benign
NM_001159.4(AOX1):c.1961G>A (p.Cys654Tyr) single nucleotide variant Inborn genetic diseases [RCV003241674] Chr2:200621206 [GRCh38]
Chr2:201485929 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.634C>G (p.Pro212Ala) single nucleotide variant Inborn genetic diseases [RCV003266766] Chr2:200604062 [GRCh38]
Chr2:201468785 [GRCh37]
Chr2:2q33.1		 uncertain significance
GRCh37/hg19 2q33.1(chr2:201504289-201633941)x3 copy number gain not provided [RCV000682011] Chr2:201504289..201633941 [GRCh37]
Chr2:2q33.1		 uncertain significance
GRCh37/hg19 2q32.3-33.1(chr2:193537927-202027736)x1 copy number loss not provided [RCV000682162] Chr2:193537927..202027736 [GRCh37]
Chr2:2q32.3-33.1		 pathogenic
GRCh37/hg19 2q32.2-33.1(chr2:191750202-202297376)x1 copy number loss not provided [RCV000682165] Chr2:191750202..202297376 [GRCh37]
Chr2:2q32.2-33.1		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:15672-243101834)x3 copy number gain not provided [RCV000752804] Chr2:15672..243101834 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001159.4(AOX1):c.2010T>C (p.Cys670=) single nucleotide variant not provided [RCV000916839] Chr2:200623869 [GRCh38]
Chr2:201488592 [GRCh37]
Chr2:2q33.1		 likely benign
Single allele duplication Neurodevelopmental disorder [RCV000787403] Chr2:188926928..225298653 [GRCh37]
Chr2:2q32.1-36.2		 pathogenic
NM_001159.4(AOX1):c.1793T>A (p.Ile598Asn) single nucleotide variant not provided [RCV000948612] Chr2:200620738 [GRCh38]
Chr2:201485461 [GRCh37]
Chr2:2q33.1		 benign
NM_001159.4(AOX1):c.3735C>T (p.Pro1245=) single nucleotide variant not provided [RCV000973314] Chr2:200668740 [GRCh38]
Chr2:201533463 [GRCh37]
Chr2:2q33.1		 benign
NM_001159.4(AOX1):c.907+3G>A single nucleotide variant not provided [RCV000946660] Chr2:200605631 [GRCh38]
Chr2:201470354 [GRCh37]
Chr2:2q33.1		 benign
NM_001159.4(AOX1):c.941A>G (p.Gln314Arg) single nucleotide variant not provided [RCV000946661] Chr2:200609017 [GRCh38]
Chr2:201473740 [GRCh37]
Chr2:2q33.1		 benign
NM_001159.4(AOX1):c.717G>A (p.Glu239=) single nucleotide variant not provided [RCV000917584] Chr2:200604743 [GRCh38]
Chr2:201469466 [GRCh37]
Chr2:2q33.1		 likely benign
GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3 copy number gain not provided [RCV001005349] Chr2:163233162..211927188 [GRCh37]
Chr2:2q24.2-34		 pathogenic
NM_001159.4(AOX1):c.1094A>T (p.Asp365Val) single nucleotide variant Inborn genetic diseases [RCV003271584] Chr2:200609355 [GRCh38]
Chr2:201474078 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.3120C>T (p.Val1040=) single nucleotide variant not provided [RCV000952830] Chr2:200656886 [GRCh38]
Chr2:201521609 [GRCh37]
Chr2:2q33.1		 benign|likely benign
NM_001159.4(AOX1):c.1657T>C (p.Leu553=) single nucleotide variant not provided [RCV000901115] Chr2:200616016 [GRCh38]
Chr2:201480739 [GRCh37]
Chr2:2q33.1		 benign
NM_001159.4(AOX1):c.2211A>G (p.Gln737=) single nucleotide variant not provided [RCV000974940] Chr2:200627439 [GRCh38]
Chr2:201492162 [GRCh37]
Chr2:2q33.1		 benign
NM_001159.4(AOX1):c.3792A>G (p.Ser1264=) single nucleotide variant not provided [RCV000973315] Chr2:200668797 [GRCh38]
Chr2:201533520 [GRCh37]
Chr2:2q33.1		 benign
NM_001159.4(AOX1):c.390G>A (p.Arg130=) single nucleotide variant not provided [RCV000890958] Chr2:200599700 [GRCh38]
Chr2:201464423 [GRCh37]
Chr2:2q33.1		 benign
NM_001159.4(AOX1):c.1449G>A (p.Arg483=) single nucleotide variant not provided [RCV000912945] Chr2:200613804 [GRCh38]
Chr2:201478527 [GRCh37]
Chr2:2q33.1		 likely benign
NM_001159.4(AOX1):c.3248C>G (p.Ala1083Gly) single nucleotide variant not provided [RCV000956027] Chr2:200659241 [GRCh38]
Chr2:201523964 [GRCh37]
Chr2:2q33.1		 benign
Single allele deletion Pulmonary arterial hypertension [RCV001004033] Chr2:201106432..204901548 [GRCh37]
Chr2:2q33.1-33.3		 pathogenic
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3 copy number gain See cases [RCV001263052] Chr2:178397959..243007457 [GRCh37]
Chr2:2q31.2-37.3		 pathogenic
GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373) copy number gain Mosaic trisomy 2 [RCV002280628] Chr2:1..243199373 [GRCh37]
Chr2:2p25.3-q37.3		 pathogenic
NM_001159.4(AOX1):c.1303G>T (p.Glu435Ter) single nucleotide variant not specified [RCV001732869] Chr2:200612648 [GRCh38]
Chr2:201477371 [GRCh37]
Chr2:2q33.1		 uncertain significance
GRCh37/hg19 2q32.1-34(chr2:185697659-213002074) copy number loss Chromosome 2q32-q33 deletion syndrome [RCV002280608] Chr2:185697659..213002074 [GRCh37]
Chr2:2q32.1-34		 pathogenic
GRCh37/hg19 2q31.1-35(chr2:169829974-215521436) copy number gain not specified [RCV002053265] Chr2:169829974..215521436 [GRCh37]
Chr2:2q31.1-35		 pathogenic
GRCh37/hg19 2q33.1-34(chr2:200851079-209054267) copy number loss not specified [RCV002053275] Chr2:200851079..209054267 [GRCh37]
Chr2:2q33.1-34		 pathogenic
NM_001159.4(AOX1):c.350G>A (p.Cys117Tyr) single nucleotide variant Inborn genetic diseases [RCV003242701] Chr2:200599660 [GRCh38]
Chr2:201464383 [GRCh37]
Chr2:2q33.1		 uncertain significance
GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1 copy number loss not provided [RCV002473800] Chr2:189909904..209468383 [GRCh37]
Chr2:2q32.2-34		 pathogenic
NM_001159.4(AOX1):c.1756C>A (p.His586Asn) single nucleotide variant Inborn genetic diseases [RCV002684890] Chr2:200620701 [GRCh38]
Chr2:201485424 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.1483A>G (p.Arg495Gly) single nucleotide variant Inborn genetic diseases [RCV002901351] Chr2:200613838 [GRCh38]
Chr2:201478561 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.2402G>A (p.Arg801Lys) single nucleotide variant Inborn genetic diseases [RCV002684789] Chr2:200636966 [GRCh38]
Chr2:201501689 [GRCh37]
Chr2:2q33.1		 likely benign
NM_001159.4(AOX1):c.3478G>A (p.Glu1160Lys) single nucleotide variant Inborn genetic diseases [RCV002779820] Chr2:200662904 [GRCh38]
Chr2:201527627 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.227T>C (p.Ile76Thr) single nucleotide variant Inborn genetic diseases [RCV002732760] Chr2:200597423 [GRCh38]
Chr2:201462146 [GRCh37]
Chr2:2q33.1		 likely benign
NM_001159.4(AOX1):c.10G>C (p.Ala4Pro) single nucleotide variant Inborn genetic diseases [RCV002733717] Chr2:200586118 [GRCh38]
Chr2:201450841 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.3599A>G (p.Asp1200Gly) single nucleotide variant Inborn genetic diseases [RCV002748847] Chr2:200666742 [GRCh38]
Chr2:201531465 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.113C>T (p.Thr38Ile) single nucleotide variant Inborn genetic diseases [RCV002859563] Chr2:200595281 [GRCh38]
Chr2:201460004 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.3337A>C (p.Ile1113Leu) single nucleotide variant Inborn genetic diseases [RCV002902778] Chr2:200660031 [GRCh38]
Chr2:201524754 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.2477A>G (p.Asn826Ser) single nucleotide variant Inborn genetic diseases [RCV002970012] Chr2:200637041 [GRCh38]
Chr2:201501764 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.1163G>A (p.Arg388Gln) single nucleotide variant Inborn genetic diseases [RCV002794360] Chr2:200611393 [GRCh38]
Chr2:201476116 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.1708A>G (p.Ile570Val) single nucleotide variant Inborn genetic diseases [RCV002778058] Chr2:200620653 [GRCh38]
Chr2:201485376 [GRCh37]
Chr2:2q33.1		 likely benign
NM_001159.4(AOX1):c.1522C>T (p.Pro508Ser) single nucleotide variant Inborn genetic diseases [RCV002861182] Chr2:200613877 [GRCh38]
Chr2:201478600 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.2348A>T (p.Asp783Val) single nucleotide variant Inborn genetic diseases [RCV002783009] Chr2:200636912 [GRCh38]
Chr2:201501635 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.2920A>G (p.Ile974Val) single nucleotide variant Inborn genetic diseases [RCV002762020] Chr2:200651046 [GRCh38]
Chr2:201515769 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.377A>G (p.Tyr126Cys) single nucleotide variant Inborn genetic diseases [RCV002783206] Chr2:200599687 [GRCh38]
Chr2:201464410 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.2621G>A (p.Ser874Asn) single nucleotide variant Inborn genetic diseases [RCV002768639] Chr2:200641150 [GRCh38]
Chr2:201505873 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.920G>A (p.Gly307Asp) single nucleotide variant Inborn genetic diseases [RCV002743238] Chr2:200608996 [GRCh38]
Chr2:201473719 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.2020C>T (p.Leu674Phe) single nucleotide variant Inborn genetic diseases [RCV002669073] Chr2:200623879 [GRCh38]
Chr2:201488602 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.1166A>T (p.Gln389Leu) single nucleotide variant Inborn genetic diseases [RCV002854728] Chr2:200611396 [GRCh38]
Chr2:201476119 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.1585G>C (p.Glu529Gln) single nucleotide variant Inborn genetic diseases [RCV002722547] Chr2:200613940 [GRCh38]
Chr2:201478663 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.1507C>G (p.Leu503Val) single nucleotide variant Inborn genetic diseases [RCV002680241] Chr2:200613862 [GRCh38]
Chr2:201478585 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.3061C>T (p.Arg1021Cys) single nucleotide variant Inborn genetic diseases [RCV003299857] Chr2:200651187 [GRCh38]
Chr2:201515910 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.2666T>C (p.Met889Thr) single nucleotide variant Inborn genetic diseases [RCV003220849] Chr2:200642620 [GRCh38]
Chr2:201507343 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.764T>G (p.Phe255Cys) single nucleotide variant Inborn genetic diseases [RCV003199109] Chr2:200604790 [GRCh38]
Chr2:201469513 [GRCh37]
Chr2:2q33.1		 uncertain significance
GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3 copy number gain See cases [RCV003329558] Chr2:186698504..223918111 [GRCh37]
Chr2:2q32.1-36.1		 pathogenic
NM_001159.4(AOX1):c.46G>A (p.Val16Met) single nucleotide variant Inborn genetic diseases [RCV003379208] Chr2:200593146 [GRCh38]
Chr2:201457869 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.3439T>G (p.Ser1147Ala) single nucleotide variant Inborn genetic diseases [RCV003379531] Chr2:200662865 [GRCh38]
Chr2:201527588 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.2309A>G (p.Asp770Gly) single nucleotide variant Inborn genetic diseases [RCV003384848] Chr2:200634878 [GRCh38]
Chr2:201499601 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.546T>A (p.Asp182Glu) single nucleotide variant Inborn genetic diseases [RCV003365002] Chr2:200603314 [GRCh38]
Chr2:201468037 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.3088G>C (p.Val1030Leu) single nucleotide variant Inborn genetic diseases [RCV003385703] Chr2:200656854 [GRCh38]
Chr2:201521577 [GRCh37]
Chr2:2q33.1		 uncertain significance
NM_001159.4(AOX1):c.2106G>A (p.Pro702=) single nucleotide variant not provided [RCV003440127] Chr2:200623965 [GRCh38]
Chr2:201488688 [GRCh37]
Chr2:2q33.1		 likely benign
NM_001159.4(AOX1):c.2400A>G (p.Val800=) single nucleotide variant not provided [RCV003440128] Chr2:200636964 [GRCh38]
Chr2:201501687 [GRCh37]
Chr2:2q33.1		 likely benign
GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1 copy number loss not specified [RCV003986323] Chr2:194305623..215261531 [GRCh37]
Chr2:2q32.3-34		 pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:949
Count of miRNA genes:625
Interacting mature miRNAs:694
Transcripts:ENST00000260930, ENST00000374700, ENST00000439380, ENST00000454629, ENST00000465297, ENST00000472553, ENST00000485106, ENST00000485965
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
RH11649  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372201,535,956 - 201,536,106UniSTSGRCh37
Build 362201,244,201 - 201,244,351RGDNCBI36
Celera2195,290,834 - 195,290,982RGD
Cytogenetic Map2q33UniSTS
HuRef2193,387,503 - 193,387,651UniSTS
GeneMap99-GB4 RH Map2624.57UniSTS
G31889  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372201,477,606 - 201,477,827UniSTSGRCh37
Build 362201,185,851 - 201,186,072RGDNCBI36
Celera2195,232,487 - 195,232,716RGD
Cytogenetic Map2q33UniSTS
HuRef2193,329,172 - 193,329,401UniSTS
WI-9291  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372201,535,876 - 201,535,984UniSTSGRCh37
Build 362201,244,121 - 201,244,229RGDNCBI36
Celera2195,290,754 - 195,290,862RGD
Cytogenetic Map2q33UniSTS
HuRef2193,387,423 - 193,387,531UniSTS
Whitehead-YAC Contig Map2 UniSTS


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 adipose tissue appendage entire extraembryonic component
High 15 13 13
Medium 1552 1452 1316 520 169 404 3253 1109 679 242 1023 1228 120 1204 2132
Low 769 821 367 86 521 42 1042 983 1683 133 349 276 48 642 1
Below cutoff 87 701 23 3 917 5 57 97 1344 35 71 86 3 14 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001159 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011511062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017003947 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341644 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054341646 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_007073113 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_008486352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB046692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC080164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF010260 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH005616 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297930 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK301052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL079797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC117181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM681054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB153864 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB789700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB794625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB798872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB811643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB848178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB866440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB885306 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB890693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB896453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GN364811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB659759 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB664684 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB668931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB681702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB718237 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB736499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB755365 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB760752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HB766512 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L11005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MF667933 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000260930   ⟹   ENSP00000260930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,660,037 - 200,670,650 (+)Ensembl
RefSeq Acc Id: ENST00000374700   ⟹   ENSP00000363832
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,586,014 - 200,671,495 (+)Ensembl
RefSeq Acc Id: ENST00000439380   ⟹   ENSP00000413326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,662,907 - 200,677,064 (+)Ensembl
RefSeq Acc Id: ENST00000454629   ⟹   ENSP00000392485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,588,174 - 200,603,297 (+)Ensembl
RefSeq Acc Id: ENST00000465297
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,609,220 - 200,670,872 (+)Ensembl
RefSeq Acc Id: ENST00000472553
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,638,132 - 200,642,803 (+)Ensembl
RefSeq Acc Id: ENST00000485106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,609,243 - 200,671,136 (+)Ensembl
RefSeq Acc Id: ENST00000485965
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2200,609,209 - 200,613,967 (+)Ensembl
RefSeq Acc Id: NM_001159   ⟹   NP_001150
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,586,014 - 200,671,495 (+)NCBI
GRCh372201,450,731 - 201,536,218 (+)ENTREZGENE
Build 362201,158,976 - 201,244,463 (+)NCBI Archive
HuRef2193,302,067 - 193,387,763 (+)ENTREZGENE
CHM1_12201,456,717 - 201,542,113 (+)NCBI
T2T-CHM13v2.02201,069,494 - 201,154,937 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011511062   ⟹   XP_011509364
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,586,014 - 200,677,064 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003946   ⟹   XP_016859435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,586,014 - 200,677,064 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017003947   ⟹   XP_016859436
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,586,014 - 200,671,495 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054341644   ⟹   XP_054197619
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02201,069,494 - 201,165,683 (+)NCBI
RefSeq Acc Id: XM_054341645   ⟹   XP_054197620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02201,069,494 - 201,165,683 (+)NCBI
RefSeq Acc Id: XM_054341646   ⟹   XP_054197621
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02201,069,494 - 201,154,937 (+)NCBI
RefSeq Acc Id: XR_007073113
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,586,014 - 200,682,241 (+)NCBI
RefSeq Acc Id: XR_008486352
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.02201,069,494 - 201,165,683 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001150 (Get FASTA)   NCBI Sequence Viewer  
  XP_011509364 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859435 (Get FASTA)   NCBI Sequence Viewer  
  XP_016859436 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197619 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197620 (Get FASTA)   NCBI Sequence Viewer  
  XP_054197621 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA96650 (Get FASTA)   NCBI Sequence Viewer  
  AAB83966 (Get FASTA)   NCBI Sequence Viewer  
  AAB83968 (Get FASTA)   NCBI Sequence Viewer  
  AAI17180 (Get FASTA)   NCBI Sequence Viewer  
  AAI17182 (Get FASTA)   NCBI Sequence Viewer  
  AAX93285 (Get FASTA)   NCBI Sequence Viewer  
  AAY24265 (Get FASTA)   NCBI Sequence Viewer  
  ASV51292 (Get FASTA)   NCBI Sequence Viewer  
  BAB40305 (Get FASTA)   NCBI Sequence Viewer  
  BAG60247 (Get FASTA)   NCBI Sequence Viewer  
  BAG62663 (Get FASTA)   NCBI Sequence Viewer  
  CAW36666 (Get FASTA)   NCBI Sequence Viewer  
  CAW39000 (Get FASTA)   NCBI Sequence Viewer  
  CAW41181 (Get FASTA)   NCBI Sequence Viewer  
  CAW47197 (Get FASTA)   NCBI Sequence Viewer  
  CAW63617 (Get FASTA)   NCBI Sequence Viewer  
  CAW71847 (Get FASTA)   NCBI Sequence Viewer  
  CAW80339 (Get FASTA)   NCBI Sequence Viewer  
  CAW82831 (Get FASTA)   NCBI Sequence Viewer  
  CAW86206 (Get FASTA)   NCBI Sequence Viewer  
  CAY77140 (Get FASTA)   NCBI Sequence Viewer  
  CBC02619 (Get FASTA)   NCBI Sequence Viewer  
  CBC04872 (Get FASTA)   NCBI Sequence Viewer  
  CBC06832 (Get FASTA)   NCBI Sequence Viewer  
  CBC12951 (Get FASTA)   NCBI Sequence Viewer  
  CBC45781 (Get FASTA)   NCBI Sequence Viewer  
  CBC62201 (Get FASTA)   NCBI Sequence Viewer  
  CBC79136 (Get FASTA)   NCBI Sequence Viewer  
  CBC84084 (Get FASTA)   NCBI Sequence Viewer  
  CBC89038 (Get FASTA)   NCBI Sequence Viewer  
  EAW70208 (Get FASTA)   NCBI Sequence Viewer  
  EAW70209 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000260930.6
  ENSP00000363832
  ENSP00000363832.2
  ENSP00000392485.1
  ENSP00000413326.1
GenBank Protein Q06278 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001150   ⟸   NM_001159
- UniProtKB: Q9BYF0 (UniProtKB/Swiss-Prot),   Q53TV3 (UniProtKB/Swiss-Prot),   Q53RR8 (UniProtKB/Swiss-Prot),   O14765 (UniProtKB/Swiss-Prot),   Q9UPG6 (UniProtKB/Swiss-Prot),   Q06278 (UniProtKB/Swiss-Prot),   A0A286LWX1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011509364   ⟸   XM_011511062
- Peptide Label: isoform X1
- UniProtKB: A0A286LWX1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016859435   ⟸   XM_017003946
- Peptide Label: isoform X2
- UniProtKB: A0A286LWX1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016859436   ⟸   XM_017003947
- Peptide Label: isoform X3
- UniProtKB: A0A286LWX1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000413326   ⟸   ENST00000439380
RefSeq Acc Id: ENSP00000363832   ⟸   ENST00000374700
RefSeq Acc Id: ENSP00000392485   ⟸   ENST00000454629
RefSeq Acc Id: ENSP00000260930   ⟸   ENST00000260930
RefSeq Acc Id: XP_054197619   ⟸   XM_054341644
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054197620   ⟸   XM_054341645
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054197621   ⟸   XM_054341646
- Peptide Label: isoform X3
Protein Domains
2Fe-2S ferredoxin-type   Aldehyde oxidase/xanthine dehydrogenase second   FAD-binding PCMH-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q06278-F1-model_v2 AlphaFold Q06278 1-1338 view protein structure

Promoters
RGD ID:6862478
Promoter ID:EPDNEW_H4404
Type:initiation region
Name:AOX1_3
Description:aldehyde oxidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4405  EPDNEW_H4407  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,585,952 - 200,586,012EPDNEW
RGD ID:6862480
Promoter ID:EPDNEW_H4405
Type:initiation region
Name:AOX1_2
Description:aldehyde oxidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4404  EPDNEW_H4407  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,586,053 - 200,586,113EPDNEW
RGD ID:6862484
Promoter ID:EPDNEW_H4407
Type:initiation region
Name:AOX1_1
Description:aldehyde oxidase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H4404  EPDNEW_H4405  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh382200,609,243 - 200,609,303EPDNEW
RGD ID:6797266
Promoter ID:HG_KWN:36614
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:ENST00000260930,   ENST00000401149,   OTTHUMT00000335844
Position:
Human AssemblyChrPosition (strand)Source
Build 362201,158,669 - 201,159,169 (+)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:553 AgrOrtholog
COSMIC AOX1 COSMIC
Ensembl Genes ENSG00000138356 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000260930.10 UniProtKB/TrEMBL
  ENST00000374700 ENTREZGENE
  ENST00000374700.7 UniProtKB/Swiss-Prot
  ENST00000439380.1 UniProtKB/TrEMBL
  ENST00000454629.1 UniProtKB/TrEMBL
Gene3D-CATH 3.10.20.30 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.43.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.465.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  [2Fe-2S]-binding domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aldehyde oxidase/xanthine dehydrogenase, a/b hammerhead UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aldehyde oxidase/xanthine dehydrogenase, molybdopterin binding domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CO dehydrogenase flavoprotein, C-terminal domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000138356 GTEx
HGNC ID HGNC:553 ENTREZGENE
Human Proteome Map AOX1 Human Proteome Map
InterPro 2Fe-2S-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2Fe-2S-bd_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2Fe-2S_ferredoxin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2Fe-2S_ferredoxin-type UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2Fe2S_fd_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_Oxase/Xan_DH_a/b UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_Oxase/Xan_DH_a/b_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_Oxase/xanthine_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Aldehyde_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AldOxase/xan_DH_MoCoBD2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AldOxase/xan_DH_Mopterin-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AldOxase/xan_DH_Mopterin-bd_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Beta-grasp_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CO_DH_flav_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CO_DH_flav_C_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-bd_PCMH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-bd_PCMH-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-bd_PCMH_sub1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-bd_PCMH_sub2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Mopterin_DH_FAD-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  OxRdtase_Mopterin_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:316 UniProtKB/Swiss-Prot
NCBI Gene 316 ENTREZGENE
OMIM 602841 OMIM
PANTHER ALDEHYDE OXIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  XANTHINE DEHYDROGENASE UniProtKB/Swiss-Prot
  XANTHINE DEHYDROGENASE UniProtKB/TrEMBL
  XANTHINE DEHYDROGENASE UniProtKB/TrEMBL
  XANTHINE DEHYDROGENASE UniProtKB/TrEMBL
Pfam Ald_Xan_dh_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ald_Xan_dh_C2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CO_deh_flav_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD_binding_5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fer2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Fer2_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MoCoBD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB AOX1 RGD, PharmGKB
PIRSF Xanthine_DH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE 2FE2S_FER_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  2FE2S_FER_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD_PCMH UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  MOLYBDOPTERIN_EUK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Ald_Xan_dh_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CO_deh_flav_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF47741 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54292 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54665 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF55447 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56003 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF56176 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A286LWX1 ENTREZGENE, UniProtKB/TrEMBL
  AOXA_HUMAN UniProtKB/Swiss-Prot
  C9J244_HUMAN UniProtKB/TrEMBL
  H7BXF7_HUMAN UniProtKB/TrEMBL
  H7C3Q1_HUMAN UniProtKB/TrEMBL
  O14765 ENTREZGENE
  Q06278 ENTREZGENE
  Q53RR8 ENTREZGENE
  Q53TV3 ENTREZGENE
  Q9BYF0 ENTREZGENE
  Q9UPG6 ENTREZGENE
UniProt Secondary O14765 UniProtKB/Swiss-Prot
  Q53RR8 UniProtKB/Swiss-Prot
  Q53TV3 UniProtKB/Swiss-Prot
  Q9BYF0 UniProtKB/Swiss-Prot
  Q9UPG6 UniProtKB/Swiss-Prot