DAO (D-amino acid oxidase) - Rat Genome Database

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Gene: DAO (D-amino acid oxidase) Homo sapiens
Analyze
Symbol: DAO
Name: D-amino acid oxidase
RGD ID: 1350103
HGNC Page HGNC:2671
Description: Enables D-amino-acid oxidase activity; FAD binding activity; and identical protein binding activity. Involved in alpha-amino acid catabolic process and dopamine biosynthetic process. Located in cytosol; mitochondrial outer membrane; and peroxisomal matrix. Implicated in schizophrenia.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: D-amino-acid oxidase; DAAO; DAMOX; MGC35381; OXDA
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
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
GRCh3812108,880,092 - 108,901,043 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12108,858,932 - 108,901,043 (+)EnsemblGRCh38hg38GRCh38
GRCh3712109,273,868 - 109,294,819 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612107,797,986 - 107,818,839 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412107,776,332 - 107,797,162NCBI
Celera12108,942,740 - 108,963,590 (+)NCBICelera
Cytogenetic Map12q24.11NCBI
HuRef12106,338,463 - 106,359,320 (+)NCBIHuRef
CHM1_112109,241,476 - 109,262,347 (+)NCBICHM1_1
T2T-CHM13v2.012108,854,786 - 108,875,798 (+)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
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,2,2-tetramine  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-methyl-pyrazole-3-carboxylic acid  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP)
ammonium chloride  (ISO)
benzene  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bisphenol A  (ISO)
chlorpromazine  (EXP)
chromium(6+)  (ISO)
clofibrate  (ISO)
clofibric acid  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
cyclosporin A  (EXP)
diquat  (ISO)
epoxomicin  (EXP)
ethanol  (ISO)
flutamide  (ISO)
furan  (ISO)
gentamycin  (ISO)
glafenine  (ISO)
glycidol  (ISO)
indometacin  (ISO)
L-ascorbic acid  (ISO)
lead diacetate  (ISO)
levetiracetam  (ISO)
methapyrilene  (EXP,ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
O-methyleugenol  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
PCB138  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
pirinixic acid  (EXP,ISO)
Propiverine  (ISO)
resveratrol  (EXP)
rotenone  (ISO)
sodium arsenite  (EXP,ISO)
sodium azide  (EXP)
sodium benzoate  (EXP,ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
streptozocin  (ISO)
thioacetamide  (ISO)
triptonide  (ISO)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. The human gene for diamine oxidase, an amiloride binding protein. Molecular cloning, sequencing, and characterization of the promoter. Chassande O, etal., J Biol Chem 1994 May 20;269(20):14484-9.
2. Molecular cloning and chromosomal localization of a human gene encoding D-amino-acid oxidase. Fukui K and Miyake Y, J Biol Chem 1992 Sep 15;267(26):18631-8.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. Examination of G72 and D-amino-acid oxidase as genetic risk factors for schizophrenia and bipolar affective disorder. Schumacher J, etal., Mol Psychiatry 2004 Feb;9(2):203-7.
Additional References at PubMed
PMID:2885296   PMID:2901986   PMID:8195119   PMID:8889548   PMID:11452983   PMID:12053066   PMID:12364586   PMID:12477932   PMID:15464270   PMID:15489334   PMID:15956068   PMID:16344560  
PMID:16380905   PMID:16616139   PMID:16828464   PMID:17055463   PMID:17088322   PMID:17179078   PMID:17250995   PMID:17303072   PMID:17336946   PMID:17408693   PMID:17492767   PMID:17627036  
PMID:17629951   PMID:17684499   PMID:17728673   PMID:17880399   PMID:17890006   PMID:18165970   PMID:18544534   PMID:18560437   PMID:18583979   PMID:18715757   PMID:19156168   PMID:19223009  
PMID:19240061   PMID:19309736   PMID:19367581   PMID:19439994   PMID:19586533   PMID:19670078   PMID:19685198   PMID:19693267   PMID:19729970   PMID:19823762   PMID:20178365   PMID:20178891  
PMID:20301623   PMID:20368421   PMID:20483168   PMID:20521334   PMID:20567862   PMID:20602615   PMID:20603179   PMID:20712760   PMID:20855273   PMID:21421061   PMID:21471957   PMID:21679769  
PMID:21700703   PMID:21873635   PMID:21988832   PMID:22239582   PMID:22802136   PMID:22865246   PMID:23152756   PMID:23219954   PMID:23497497   PMID:23555897   PMID:23859606   PMID:24085347  
PMID:24237903   PMID:24256253   PMID:24722188   PMID:25416956   PMID:25982580   PMID:26871637   PMID:26986737   PMID:27130307   PMID:27400736   PMID:28285246   PMID:28514442   PMID:28750137  
PMID:29093468   PMID:29274788   PMID:29987050   PMID:30659069   PMID:31515488   PMID:32456898   PMID:32623917   PMID:32730563   PMID:32818236   PMID:32824107   PMID:32997559   PMID:33051492  
PMID:33961781   PMID:34983973   PMID:35430632   PMID:37558109   PMID:38134563  


Genomics

Comparative Map Data
DAO
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3812108,880,092 - 108,901,043 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl12108,858,932 - 108,901,043 (+)EnsemblGRCh38hg38GRCh38
GRCh3712109,273,868 - 109,294,819 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3612107,797,986 - 107,818,839 (+)NCBINCBI36Build 36hg18NCBI36
Build 3412107,776,332 - 107,797,162NCBI
Celera12108,942,740 - 108,963,590 (+)NCBICelera
Cytogenetic Map12q24.11NCBI
HuRef12106,338,463 - 106,359,320 (+)NCBIHuRef
CHM1_112109,241,476 - 109,262,347 (+)NCBICHM1_1
T2T-CHM13v2.012108,854,786 - 108,875,798 (+)NCBIT2T-CHM13v2.0
Dao
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm395114,137,696 - 114,163,736 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl5114,141,764 - 114,163,743 (+)EnsemblGRCm39 Ensembl
GRCm385113,999,635 - 114,025,675 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl5114,003,703 - 114,025,682 (+)EnsemblGRCm38mm10GRCm38
MGSCv375114,453,835 - 114,475,469 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv365114,270,835 - 114,285,905 (+)NCBIMGSCv36mm8
Celera5111,106,565 - 111,127,023 (+)NCBICelera
Cytogenetic Map5FNCBI
cM Map555.93NCBI
Dao
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81248,252,900 - 48,275,964 (-)NCBIGRCr8
mRatBN7.21242,592,342 - 42,613,046 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1242,592,343 - 42,612,741 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1243,758,494 - 43,778,668 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01244,372,084 - 44,392,254 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01243,432,603 - 43,452,773 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01248,353,691 - 48,373,647 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1248,354,196 - 48,365,784 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01250,135,334 - 50,157,417 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41243,627,593 - 43,648,332 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11243,490,980 - 43,511,720 (-)NCBI
Celera1244,196,549 - 44,215,768 (-)NCBICelera
Cytogenetic Map12q16NCBI
Dao
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545510,095,300 - 10,127,666 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495545510,095,597 - 10,127,244 (+)NCBIChiLan1.0ChiLan1.0
DAO
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v210116,932,153 - 116,965,615 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan112116,928,929 - 116,962,014 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v012106,453,807 - 106,475,409 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.112109,849,995 - 109,870,065 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl12109,849,995 - 109,870,065 (+)Ensemblpanpan1.1panPan2
DAO
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12618,032,663 - 18,057,277 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2618,033,392 - 18,057,238 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2617,744,673 - 17,773,938 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02618,371,860 - 18,401,188 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2618,376,518 - 18,395,445 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12617,954,290 - 17,983,467 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02618,362,722 - 18,391,870 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02618,381,507 - 18,410,821 (-)NCBIUU_Cfam_GSD_1.0
Dao
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024405118144,717,426 - 144,736,206 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936769744,864 - 758,452 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936769744,862 - 758,086 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
DAO
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1441,931,541 - 41,950,633 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11441,931,549 - 41,950,628 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21444,473,515 - 44,492,595 (-)NCBISscrofa10.2Sscrofa10.2susScr3
Pig Cytomap14q2.1-q2.3NCBI
DAO
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.111104,080,915 - 104,104,017 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl11104,081,672 - 104,106,222 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037140,993,522 - 141,016,334 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Dao
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474712,105,133 - 12,116,604 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474712,094,658 - 12,117,000 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in DAO
58 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1 copy number loss See cases [RCV000050807] Chr12:105234677..112194686 [GRCh38]
Chr12:105628455..112632490 [GRCh37]
Chr12:104152585..111116873 [NCBI36]
Chr12:12q23.3-24.13		 pathogenic
NM_001917.4(DAO):c.57C>T (p.Ile19=) single nucleotide variant Malignant melanoma [RCV000069800] Chr12:108885063 [GRCh38]
Chr12:109278839 [GRCh37]
Chr12:107802968 [NCBI36]
Chr12:12q24.11		 not provided
GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1 copy number loss See cases [RCV000138537] Chr12:105644967..108994840 [GRCh38]
Chr12:106038745..109432645 [GRCh37]
Chr12:104562875..107917026 [NCBI36]
Chr12:12q23.3-24.11		 uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 copy number gain See cases [RCV000142447] Chr12:91044318..109133210 [GRCh38]
Chr12:91438095..109571015 [GRCh37]
Chr12:89962226..108055398 [NCBI36]
Chr12:12q21.33-24.11		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)x1 copy number loss See cases [RCV000445832] Chr12:103044333..111639805 [GRCh37]
Chr12:12q23.2-24.11		 likely pathogenic
GRCh37/hg19 12q24.11(chr12:109190922-109989416)x3 copy number gain See cases [RCV000510377] Chr12:109190922..109989416 [GRCh37]
Chr12:12q24.11		 likely benign
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_001917.5(DAO):c.279G>A (p.Ser93=) single nucleotide variant DAO-related condition [RCV003975995]|not provided [RCV001691142] Chr12:108887534 [GRCh38]
Chr12:109281310 [GRCh37]
Chr12:12q24.11		 benign
NM_001917.5(DAO):c.913-129G>A single nucleotide variant not provided [RCV001668944] Chr12:108900275 [GRCh38]
Chr12:109294051 [GRCh37]
Chr12:12q24.11		 benign
NM_001917.5(DAO):c.309+10C>T single nucleotide variant not provided [RCV000967286] Chr12:108887574 [GRCh38]
Chr12:109281350 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.300A>G (p.Glu100=) single nucleotide variant DAO-related condition [RCV003912842]|not provided [RCV000899516] Chr12:108887555 [GRCh38]
Chr12:109281331 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_001917.5(DAO):c.814-4C>G single nucleotide variant not provided [RCV000920617] Chr12:108899373 [GRCh38]
Chr12:109293149 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.33C>T (p.Ile11=) single nucleotide variant DAO-related condition [RCV003910811]|not provided [RCV000904896] Chr12:108885039 [GRCh38]
Chr12:109278815 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.45C>T (p.Thr15=) single nucleotide variant DAO-related condition [RCV003968184]|not provided [RCV000895408] Chr12:108885051 [GRCh38]
Chr12:109278827 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.927T>C (p.Tyr309=) single nucleotide variant not provided [RCV000916948] Chr12:108900418 [GRCh38]
Chr12:109294194 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.430T>C (p.Tyr144His) single nucleotide variant DAO-related condition [RCV003932958]|not provided [RCV000909570] Chr12:108890251 [GRCh38]
Chr12:109284027 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_001917.5(DAO):c.962G>A (p.Gly321Glu) single nucleotide variant Amyotrophic lateral sclerosis [RCV001095495] Chr12:108900453 [GRCh38]
Chr12:109294229 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.490G>T (p.Val164Leu) single nucleotide variant not specified [RCV001095494] Chr12:108893019 [GRCh38]
Chr12:109286795 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.212C>T (p.Thr71Ile) single nucleotide variant Amyotrophic lateral sclerosis [RCV001095493] Chr12:108887467 [GRCh38]
Chr12:109281243 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.696-25C>T single nucleotide variant not provided [RCV001655382] Chr12:108898654 [GRCh38]
Chr12:109292430 [GRCh37]
Chr12:12q24.11		 benign
NM_001917.5(DAO):c.*102T>C single nucleotide variant not provided [RCV001680267] Chr12:108900637 [GRCh38]
Chr12:109294413 [GRCh37]
Chr12:12q24.11		 benign
NM_001917.5(DAO):c.840T>A (p.Thr280=) single nucleotide variant not provided [RCV000931554] Chr12:108899403 [GRCh38]
Chr12:109293179 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.308C>T (p.Pro103Leu) single nucleotide variant not provided [RCV000882175] Chr12:108887563 [GRCh38]
Chr12:109281339 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.618C>T (p.Asp206=) single nucleotide variant not provided [RCV000917860] Chr12:108897011 [GRCh38]
Chr12:109290787 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.723C>T (p.Ile241=) single nucleotide variant DAO-related condition [RCV003933002]|not provided [RCV000912454] Chr12:108898706 [GRCh38]
Chr12:109292482 [GRCh37]
Chr12:12q24.11		 benign|likely benign
NM_001917.5(DAO):c.912+69A>G single nucleotide variant not provided [RCV001618178] Chr12:108899544 [GRCh38]
Chr12:109293320 [GRCh37]
Chr12:12q24.11		 benign
NM_001917.5(DAO):c.814-180A>G single nucleotide variant not provided [RCV001638748] Chr12:108899197 [GRCh38]
Chr12:109292973 [GRCh37]
Chr12:12q24.11		 benign
NM_001917.5(DAO):c.386+282A>C single nucleotide variant not provided [RCV001597734] Chr12:108889827 [GRCh38]
Chr12:109283603 [GRCh37]
Chr12:12q24.11		 benign
NM_001917.5(DAO):c.912+166C>T single nucleotide variant not provided [RCV001616753] Chr12:108899641 [GRCh38]
Chr12:109293417 [GRCh37]
Chr12:12q24.11		 benign
NM_001917.5(DAO):c.508-311T>C single nucleotide variant not provided [RCV001656577] Chr12:108893952 [GRCh38]
Chr12:109287728 [GRCh37]
Chr12:12q24.11		 benign
NM_001917.5(DAO):c.195-99C>T single nucleotide variant not provided [RCV001710982] Chr12:108887351 [GRCh38]
Chr12:109281127 [GRCh37]
Chr12:12q24.11		 benign
NM_001917.5(DAO):c.508-55A>G single nucleotide variant not provided [RCV001684062] Chr12:108894208 [GRCh38]
Chr12:109287984 [GRCh37]
Chr12:12q24.11		 benign
NM_001917.5(DAO):c.507+98G>A single nucleotide variant not provided [RCV001695430] Chr12:108893134 [GRCh38]
Chr12:109286910 [GRCh37]
Chr12:12q24.11		 benign
NM_001917.5(DAO):c.-9-234C>T single nucleotide variant not provided [RCV001678640] Chr12:108884764 [GRCh38]
Chr12:109278540 [GRCh37]
Chr12:12q24.11		 benign
GRCh37/hg19 12q24.11(chr12:109199902-110267493)x3 copy number gain not provided [RCV001006530] Chr12:109199902..110267493 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.-9-27T>G single nucleotide variant not provided [RCV001646030] Chr12:108884971 [GRCh38]
Chr12:109278747 [GRCh37]
Chr12:12q24.11		 benign
NM_001917.5(DAO):c.453-182G>C single nucleotide variant not provided [RCV001694954] Chr12:108892800 [GRCh38]
Chr12:109286576 [GRCh37]
Chr12:12q24.11		 benign
NM_001917.5(DAO):c.46G>A (p.Ala16Thr) single nucleotide variant Amyotrophic lateral sclerosis [RCV001095492]|DAO-related condition [RCV003396745] Chr12:108885052 [GRCh38]
Chr12:109278828 [GRCh37]
Chr12:12q24.11		 likely benign|uncertain significance
NM_001917.5(DAO):c.309+337A>G single nucleotide variant not provided [RCV001641440] Chr12:108887901 [GRCh38]
Chr12:109281677 [GRCh37]
Chr12:12q24.11		 benign
NM_001917.5(DAO):c.250G>A (p.Ala84Thr) single nucleotide variant Amyotrophic lateral sclerosis [RCV001260559]|DAO-related condition [RCV003399030] Chr12:108887505 [GRCh38]
Chr12:109281281 [GRCh37]
Chr12:12q24.11		 likely pathogenic|uncertain significance
GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1 copy number loss not provided [RCV001270637] Chr12:107197584..109830564 [GRCh37]
Chr12:12q23.3-24.11		 uncertain significance
NM_001917.5(DAO):c.387-258A>G single nucleotide variant not provided [RCV001689514] Chr12:108889950 [GRCh38]
Chr12:109283726 [GRCh37]
Chr12:12q24.11		 benign
GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1 copy number loss not provided [RCV001834231] Chr12:104230462..111984801 [GRCh37]
Chr12:12q23.3-24.12		 pathogenic
NM_001917.5(DAO):c.34G>A (p.Gly12Arg) single nucleotide variant Amyotrophic lateral sclerosis [RCV001843917] Chr12:108885040 [GRCh38]
Chr12:109278816 [GRCh37]
Chr12:12q24.11		 uncertain significance
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805) copy number loss not specified [RCV002053016] Chr12:103044333..111639805 [GRCh37]
Chr12:12q23.2-24.11		 likely pathogenic
NM_001917.5(DAO):c.641T>C (p.Ile214Thr) single nucleotide variant Inborn genetic diseases [RCV002772864] Chr12:108897034 [GRCh38]
Chr12:109290810 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.344G>A (p.Arg115Gln) single nucleotide variant Inborn genetic diseases [RCV002839837] Chr12:108889503 [GRCh38]
Chr12:109283279 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.173A>T (p.Asp58Val) single nucleotide variant Inborn genetic diseases [RCV002830499] Chr12:108885179 [GRCh38]
Chr12:109278955 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.502G>A (p.Glu168Lys) single nucleotide variant Inborn genetic diseases [RCV002708449] Chr12:108893031 [GRCh38]
Chr12:109286807 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.632A>T (p.Lys211Met) single nucleotide variant Inborn genetic diseases [RCV002825922] Chr12:108897025 [GRCh38]
Chr12:109290801 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.1028C>T (p.Pro343Leu) single nucleotide variant Inborn genetic diseases [RCV002680261] Chr12:108900519 [GRCh38]
Chr12:109294295 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.523G>A (p.Ala175Thr) single nucleotide variant Inborn genetic diseases [RCV003185566] Chr12:108894278 [GRCh38]
Chr12:109288054 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.539A>G (p.Asn180Ser) single nucleotide variant Inborn genetic diseases [RCV003356430] Chr12:108894294 [GRCh38]
Chr12:109288070 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.1034C>T (p.Ser345Phe) single nucleotide variant DAO-related condition [RCV003946633]|not provided [RCV003456825] Chr12:108900525 [GRCh38]
Chr12:109294301 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.890G>A (p.Arg297His) single nucleotide variant DAO-related condition [RCV003419090] Chr12:108899453 [GRCh38]
Chr12:109293229 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.869G>A (p.Arg290Gln) single nucleotide variant DAO-related condition [RCV003392849] Chr12:108899432 [GRCh38]
Chr12:109293208 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.4C>A (p.Arg2Ser) single nucleotide variant DAO-related condition [RCV003414528] Chr12:108885010 [GRCh38]
Chr12:109278786 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.113G>A (p.Arg38His) single nucleotide variant DAO-related condition [RCV003414555] Chr12:108885119 [GRCh38]
Chr12:109278895 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.704C>T (p.Thr235Ile) single nucleotide variant DAO-related condition [RCV003402634] Chr12:108898687 [GRCh38]
Chr12:109292463 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.391G>T (p.Gly131Cys) single nucleotide variant DAO-related condition [RCV003400183] Chr12:108890212 [GRCh38]
Chr12:109283988 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.309G>A (p.Pro103=) single nucleotide variant DAO-related condition [RCV003418824] Chr12:108887564 [GRCh38]
Chr12:109281340 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.387-1G>A single nucleotide variant not provided [RCV003490673] Chr12:108890207 [GRCh38]
Chr12:109283983 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.595C>T (p.Arg199Trp) single nucleotide variant DAO-related condition [RCV003919573] Chr12:108894350 [GRCh38]
Chr12:109288126 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.508-6T>C single nucleotide variant DAO-related condition [RCV003969081] Chr12:108894257 [GRCh38]
Chr12:109288033 [GRCh37]
Chr12:12q24.11		 benign
NM_001917.5(DAO):c.268T>G (p.Phe90Val) single nucleotide variant DAO-related condition [RCV003912267] Chr12:108887523 [GRCh38]
Chr12:109281299 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.483G>A (p.Gln161=) single nucleotide variant DAO-related condition [RCV003956731] Chr12:108893012 [GRCh38]
Chr12:109286788 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.384C>T (p.Tyr128=) single nucleotide variant DAO-related condition [RCV003954796] Chr12:108889543 [GRCh38]
Chr12:109283319 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.108G>A (p.Ala36=) single nucleotide variant DAO-related condition [RCV003964569] Chr12:108885114 [GRCh38]
Chr12:109278890 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.24A>T (p.Ala8=) single nucleotide variant DAO-related condition [RCV003899298] Chr12:108885030 [GRCh38]
Chr12:109278806 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.596G>A (p.Arg199Gln) single nucleotide variant DAO-related condition [RCV003949160] Chr12:108894351 [GRCh38]
Chr12:109288127 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.150_155del (p.Leu51_Trp52del) deletion DAO-related condition [RCV003949450] Chr12:108885155..108885160 [GRCh38]
Chr12:109278931..109278936 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.856C>T (p.Arg286Cys) single nucleotide variant DAO-related condition [RCV003914028] Chr12:108899419 [GRCh38]
Chr12:109293195 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.195-7C>T single nucleotide variant DAO-related condition [RCV003951953] Chr12:108887443 [GRCh38]
Chr12:109281219 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.132C>A (p.Thr44=) single nucleotide variant DAO-related condition [RCV003911670] Chr12:108885138 [GRCh38]
Chr12:109278914 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.848G>A (p.Arg283Gln) single nucleotide variant DAO-related condition [RCV003946946] Chr12:108899411 [GRCh38]
Chr12:109293187 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.187C>G (p.Gln63Glu) single nucleotide variant DAO-related condition [RCV003969689] Chr12:108885193 [GRCh38]
Chr12:109278969 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.147C>T (p.Ala49=) single nucleotide variant DAO-related condition [RCV003946805] Chr12:108885153 [GRCh38]
Chr12:109278929 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.386+2T>C single nucleotide variant DAO-related condition [RCV003969337] Chr12:108889547 [GRCh38]
Chr12:109283323 [GRCh37]
Chr12:12q24.11		 likely benign
NM_001917.5(DAO):c.953T>G (p.Ile318Ser) single nucleotide variant not provided [RCV003490675] Chr12:108900444 [GRCh38]
Chr12:109294220 [GRCh37]
Chr12:12q24.11		 uncertain significance
GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1 copy number loss not provided [RCV001259630] Chr12:106498814..112252906 [GRCh37]
Chr12:12q23.3-24.12		 pathogenic
NM_001917.5(DAO):c.314C>G (p.Pro105Arg) single nucleotide variant Inborn genetic diseases [RCV003359074] Chr12:108889473 [GRCh38]
Chr12:109283249 [GRCh37]
Chr12:12q24.11		 uncertain significance
NM_001917.5(DAO):c.943G>A (p.Gly315Arg) single nucleotide variant not provided [RCV003490674] Chr12:108900434 [GRCh38]
Chr12:109294210 [GRCh37]
Chr12:12q24.11		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2703
Count of miRNA genes:898
Interacting mature miRNAs:1074
Transcripts:ENST00000228476, ENST00000546552, ENST00000547122, ENST00000547166, ENST00000547768, ENST00000548052, ENST00000549215, ENST00000551281
Prediction methods: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
D12S105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712109,275,149 - 109,275,305UniSTSGRCh37
GRCh3712109,275,167 - 109,275,311UniSTSGRCh37
Build 3612107,799,296 - 107,799,440RGDNCBI36
Celera12108,944,030 - 108,944,186UniSTS
Celera12108,944,048 - 108,944,192RGD
Cytogenetic Map12q24UniSTS
HuRef12106,339,771 - 106,339,917UniSTS
HuRef12106,339,753 - 106,339,911UniSTS
Marshfield Genetic Map12118.68RGD
Genethon Genetic Map12118.9UniSTS
TNG Radiation Hybrid Map1253498.0UniSTS
deCODE Assembly Map12123.94UniSTS
Stanford-G3 RH Map124680.0UniSTS
Whitehead-RH Map12523.1UniSTS
Whitehead-YAC Contig Map12 UniSTS
NCBI RH Map12710.6UniSTS
GeneMap99-G3 RH Map124626.0UniSTS
GDB:384833  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712109,294,501 - 109,294,620UniSTSGRCh37
Build 3612107,818,630 - 107,818,749RGDNCBI36
Celera12108,963,381 - 108,963,500RGD
Cytogenetic Map12q24UniSTS
HuRef12106,359,111 - 106,359,230UniSTS
SGC35423  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712109,294,360 - 109,294,579UniSTSGRCh37
Build 3612107,818,489 - 107,818,708RGDNCBI36
Celera12108,963,240 - 108,963,459RGD
Cytogenetic Map12q24UniSTS
HuRef12106,358,970 - 106,359,189UniSTS
GeneMap99-GB4 RH Map12427.28UniSTS
Whitehead-RH Map12523.1UniSTS
STS-X13227  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712109,294,355 - 109,294,533UniSTSGRCh37
Build 3612107,818,484 - 107,818,662RGDNCBI36
Celera12108,963,235 - 108,963,413RGD
Cytogenetic Map12q24UniSTS
HuRef12106,358,965 - 106,359,143UniSTS
GeneMap99-GB4 RH Map12430.81UniSTS
27-2  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712109,283,535 - 109,283,708UniSTSGRCh37
Build 3612107,807,664 - 107,807,837RGDNCBI36
Celera12108,952,416 - 108,952,589RGD
Cytogenetic Map12q24UniSTS
HuRef12106,348,142 - 106,348,315UniSTS
27-29  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3712109,278,694 - 109,278,970UniSTSGRCh37
Build 3612107,802,823 - 107,803,099RGDNCBI36
Celera12108,947,575 - 108,947,851RGD
Cytogenetic Map12q24UniSTS
HuRef12106,343,300 - 106,343,576UniSTS
D12S105  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map12q24UniSTS
Marshfield Genetic Map12118.68UniSTS
Genethon Genetic Map12118.9UniSTS
deCODE Assembly Map12123.94UniSTS
Whitehead-RH Map12523.1UniSTS
Whitehead-YAC Contig Map12 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 visual system adipose tissue appendage entire extraembryonic component
High
Medium 325 325 325 575 78
Low 167 78 107 101 31 101 56 2 469 164 42 18 1 5 54
Below cutoff 950 1756 862 66 785 15 2126 947 2276 59 756 942 53 1 592 1573 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023236 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413634 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001413635 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005268692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538004 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371307 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054371308 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC087893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312995 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX741655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX741656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX741658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX741659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX776478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX776479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX776480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX786386 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM932083 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D11370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA085245 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178015 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KU178016 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000228476   ⟹   ENSP00000228476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,880,092 - 108,901,043 (+)Ensembl
RefSeq Acc Id: ENST00000546552
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,898,472 - 108,900,493 (+)Ensembl
RefSeq Acc Id: ENST00000547122   ⟹   ENSP00000448095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,880,091 - 108,901,039 (+)Ensembl
RefSeq Acc Id: ENST00000547166   ⟹   ENSP00000447104
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,880,351 - 108,894,345 (+)Ensembl
RefSeq Acc Id: ENST00000547768   ⟹   ENSP00000449967
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,880,109 - 108,899,432 (+)Ensembl
RefSeq Acc Id: ENST00000548052
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,858,932 - 108,883,771 (+)Ensembl
RefSeq Acc Id: ENST00000549215   ⟹   ENSP00000449248
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,880,140 - 108,900,931 (+)Ensembl
RefSeq Acc Id: ENST00000551281   ⟹   ENSP00000446853
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl12108,858,932 - 108,900,921 (+)Ensembl
RefSeq Acc Id: NM_001413634   ⟹   NP_001400563
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812108,880,092 - 108,901,043 (+)NCBI
T2T-CHM13v2.012108,854,786 - 108,875,798 (+)NCBI
RefSeq Acc Id: NM_001413635   ⟹   NP_001400564
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812108,880,092 - 108,901,043 (+)NCBI
T2T-CHM13v2.012108,854,786 - 108,875,798 (+)NCBI
RefSeq Acc Id: NM_001917   ⟹   NP_001908
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812108,880,092 - 108,901,043 (+)NCBI
GRCh3712109,273,806 - 109,294,710 (+)NCBI
Build 3612107,797,986 - 107,818,839 (+)NCBI Archive
HuRef12106,338,463 - 106,359,320 (+)ENTREZGENE
CHM1_112109,241,476 - 109,262,347 (+)NCBI
T2T-CHM13v2.012108,854,786 - 108,875,798 (+)NCBI
Sequence:
RefSeq Acc Id: XM_005268692   ⟹   XP_005268749
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812108,880,092 - 108,901,043 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011538004   ⟹   XP_011536306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812108,880,092 - 108,901,043 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054371307   ⟹   XP_054227282
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012108,854,786 - 108,875,798 (+)NCBI
RefSeq Acc Id: XM_054371308   ⟹   XP_054227283
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.012108,854,786 - 108,875,798 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001400563 (Get FASTA)   NCBI Sequence Viewer  
  NP_001400564 (Get FASTA)   NCBI Sequence Viewer  
  NP_001908 (Get FASTA)   NCBI Sequence Viewer  
  XP_005268749 (Get FASTA)   NCBI Sequence Viewer  
  XP_011536306 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227282 (Get FASTA)   NCBI Sequence Viewer  
  XP_054227283 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH29057 (Get FASTA)   NCBI Sequence Viewer  
  AAH74770 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33473 (Get FASTA)   NCBI Sequence Viewer  
  ALQ33474 (Get FASTA)   NCBI Sequence Viewer  
  BAA20974 (Get FASTA)   NCBI Sequence Viewer  
  BAG35832 (Get FASTA)   NCBI Sequence Viewer  
  CAD90933 (Get FASTA)   NCBI Sequence Viewer  
  CAD90934 (Get FASTA)   NCBI Sequence Viewer  
  CAD90936 (Get FASTA)   NCBI Sequence Viewer  
  CAD90937 (Get FASTA)   NCBI Sequence Viewer  
  CAD98069 (Get FASTA)   NCBI Sequence Viewer  
  CAE11742 (Get FASTA)   NCBI Sequence Viewer  
  CAE11743 (Get FASTA)   NCBI Sequence Viewer  
  CAE11744 (Get FASTA)   NCBI Sequence Viewer  
  CAE11959 (Get FASTA)   NCBI Sequence Viewer  
  EAW97834 (Get FASTA)   NCBI Sequence Viewer  
  EAW97835 (Get FASTA)   NCBI Sequence Viewer  
  EAW97836 (Get FASTA)   NCBI Sequence Viewer  
  EAW97837 (Get FASTA)   NCBI Sequence Viewer  
  EAW97838 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000228476
  ENSP00000228476.3
  ENSP00000446853
  ENSP00000446853.1
  ENSP00000447104.1
  ENSP00000448095.1
  ENSP00000449248.1
  ENSP00000449967.1
GenBank Protein P14920 (Get FASTA)   NCBI Sequence Viewer  
Reference Protein Sequences
RefSeq Acc Id: NP_001908   ⟸   NM_001917
- Peptide Label: isoform a
- UniProtKB: Q16758 (UniProtKB/Swiss-Prot),   B2R7I5 (UniProtKB/Swiss-Prot),   Q8N6R2 (UniProtKB/Swiss-Prot),   P14920 (UniProtKB/Swiss-Prot),   A0A024RBI1 (UniProtKB/TrEMBL),   Q7Z312 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005268749   ⟸   XM_005268692
- Peptide Label: isoform X2
- UniProtKB: Q7Z312 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011536306   ⟸   XM_011538004
- Peptide Label: isoform X1
- UniProtKB: Q16758 (UniProtKB/Swiss-Prot),   B2R7I5 (UniProtKB/Swiss-Prot),   Q8N6R2 (UniProtKB/Swiss-Prot),   P14920 (UniProtKB/Swiss-Prot),   A0A024RBI1 (UniProtKB/TrEMBL),   Q7Z312 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000228476   ⟸   ENST00000228476
RefSeq Acc Id: ENSP00000449967   ⟸   ENST00000547768
RefSeq Acc Id: ENSP00000448095   ⟸   ENST00000547122
RefSeq Acc Id: ENSP00000447104   ⟸   ENST00000547166
RefSeq Acc Id: ENSP00000449248   ⟸   ENST00000549215
RefSeq Acc Id: ENSP00000446853   ⟸   ENST00000551281
RefSeq Acc Id: NP_001400563   ⟸   NM_001413634
- Peptide Label: isoform a
- UniProtKB: Q16758 (UniProtKB/Swiss-Prot),   P14920 (UniProtKB/Swiss-Prot),   B2R7I5 (UniProtKB/Swiss-Prot),   Q8N6R2 (UniProtKB/Swiss-Prot),   A0A024RBI1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001400564   ⟸   NM_001413635
- Peptide Label: isoform b
- UniProtKB: A0A0S2Z3J4 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054227282   ⟸   XM_054371307
- Peptide Label: isoform X1
- UniProtKB: Q16758 (UniProtKB/Swiss-Prot),   P14920 (UniProtKB/Swiss-Prot),   B2R7I5 (UniProtKB/Swiss-Prot),   Q8N6R2 (UniProtKB/Swiss-Prot),   A0A024RBI1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054227283   ⟸   XM_054371308
- Peptide Label: isoform X2
Protein Domains
FAD dependent oxidoreductase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P14920-F1-model_v2 AlphaFold P14920 1-347 view protein structure

Promoters
RGD ID:7225323
Promoter ID:EPDNEW_H18407
Type:initiation region
Name:DAO_1
Description:D-amino acid oxidase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3812108,880,094 - 108,880,154EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2671 AgrOrtholog
COSMIC DAO COSMIC
Ensembl Genes ENSG00000110887 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000228476 ENTREZGENE
  ENST00000228476.8 UniProtKB/Swiss-Prot
  ENST00000547122.5 UniProtKB/TrEMBL
  ENST00000547166.1 UniProtKB/TrEMBL
  ENST00000547768.5 UniProtKB/TrEMBL
  ENST00000549215.5 UniProtKB/TrEMBL
  ENST00000551281 ENTREZGENE
  ENST00000551281.5 UniProtKB/TrEMBL
Gene3D-CATH D-Amino Acid Oxidase, subunit A, domain 2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  NAD(P)-binding Rossmann-like Domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000110887 GTEx
HGNC ID HGNC:2671 ENTREZGENE
Human Proteome Map DAO Human Proteome Map
InterPro D-amino_acid_oxidase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DAO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FAD-dep_OxRdtase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1610 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 1610 ENTREZGENE
OMIM 124050 OMIM
PANTHER D-AMINO-ACID OXIDASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11530 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam DAO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA27139 PharmGKB
PIRSF D-aa_oxidase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE DAO UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP FAD-linked reductases, C-terminal domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide-binding domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024RBI1 ENTREZGENE, UniProtKB/TrEMBL
  A0A0B4J250_HUMAN UniProtKB/TrEMBL
  A0A0B4J257_HUMAN UniProtKB/TrEMBL
  A0A0S2Z3J4 ENTREZGENE, UniProtKB/TrEMBL
  B2R7I5 ENTREZGENE
  F8VV35_HUMAN UniProtKB/TrEMBL
  F8VVT2_HUMAN UniProtKB/TrEMBL
  F8W152_HUMAN UniProtKB/TrEMBL
  OXDA_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q16758 ENTREZGENE
  Q7Z312 ENTREZGENE, UniProtKB/TrEMBL
  Q8N6R2 ENTREZGENE
UniProt Secondary B2R7I5 UniProtKB/Swiss-Prot
  Q16758 UniProtKB/Swiss-Prot
  Q8N6R2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-07-12 DAO  D-amino acid oxidase  DAO  D-amino-acid oxidase  Symbol and/or name change 5135510 APPROVED