mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for DAO
Gene summary
Basic gene Info.Gene symbolDAO
Gene nameD-amino-acid oxidase
SynonymsDAAO|DAMOX|OXDA
CytomapUCSC genome browser: 12q24
Type of geneprotein-coding
RefGenesNM_001917.4,
DescriptionD-amino acid oxidase
Modification date20141207
dbXrefs MIM : 124050
HGNC : HGNC
Ensembl : ENSG00000110887
HPRD : 15917
Vega : OTTHUMG00000169360
ProteinUniProt: P14920
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_DAO
BioGPS: 1610
PathwayNCI Pathway Interaction Database: DAO
KEGG: DAO
REACTOME: DAO
Pathway Commons: DAO
ContextiHOP: DAO
ligand binding site mutation search in PubMed: DAO
UCL Cancer Institute: DAO
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0006562proline catabolic process16616139
GO:0036088D-serine catabolic process18544534
GO:0042416dopamine biosynthetic process17303072
GO:0055130D-alanine catabolic process16616139
GO:0070178D-serine metabolic process21679769


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Ligand binding site mutations for DAO

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
G200R199WCOAD1
V47,T45D46NCOAD1
P284R286HCOAD1
R162R162QCOAD1
P284R286CGBM1
R283R283WGBM1
R162R162QPRAD1
G200R199QSKCM1
G315G315ESKCM1
L56L56FSKCM1
R162R162WSTAD1
Y314Y314HSTAD1
G50G50DSTAD1
A36A36TSTAD1
P284R286HSTAD1
H217P219TUCEC1
cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma.


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Protein structure related information for DAO
Relative protein structure stability change (ΔΔE) using Mupro 1.1
Mupro score denotes assessment of the effect of mutations on thermodynamic stability.
  (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability)
: nsSNV at non-LBS: nsSNV at LBS

nsSNVs sorted by the relative stability change of protein structure by each mutation
Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene.
LBSAAchange of nsSNVRelative stability change
G200R199Q-1.4929336
L56L56F-1.4688509
R162R162Q-1.3225179
P284R286H-1.3113122
G200R199W-1.1559463
P284R286C-1.052749
R162R162W-1.0354692
R283R283W-0.87426445
H217P219T-0.81559766
V47D46N-0.7932255
T45D46N-0.7932255
A36A36T-0.75875507
G50G50D-0.47624353
Y314Y314H-0.13427228
G315G315E-0.058635607
(MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132)

Structure image for DAO from PDB

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Differential gene expression and gene-gene network for DAO
Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types

Differential co-expressed gene network based on protein-protein interaction data (CePIN)
* Left PPI network was created from samples with mutations in the LBS of DAO and the right PPI network was created from samples without mutations in the LBS of DAO. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for DAO
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0036341Schizophrenia40AlteredExpression, Biomarker, GeneticVariation
umls:C0004352Autistic Disorder1Biomarker, GeneticVariation

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for DAO
Gene expression profile of anticancer drug treated cell-lines (CCLE)
Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
ExperimentalDB028383,4-Dihydro-2h-Pyrrolium-5-CarboxylateSmall molecule
ExperimentalDB02988Imino-TryptophanSmall molecule
ApprovedDB03147Flavin adenine dinucleotideSmall molecule
ExperimentalDB03225D-TryptophanSmall molecule
ExperimentalDB03531Flavin-Adenine Dinucleotide-N5-Isobutyl KetoneSmall molecule
ApprovedDB03793Benzoic AcidSmall molecule
ExperimentalDB041662-Aminobenzoic AcidSmall molecule
ExperimentalDB07979(2E)-3-(3,4-DIHYDROXYPHENYL)-2-IMINOPROPANOIC ACIDSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of DAO go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
FADFAD2e48AA36 T45 G50 R162 R283 P284 Y314 G315
FADFAD3znqBA36 T45 G50 R162 R283 P284 Y314 G315
FADFAD3cukAA36 T45 G50 R162 R283 Y314 G315
FADFAD3cukBA36 T45 G50 R162 R283 Y314 G315
FADFAD3g3eAA36 T45 G50 R162 R283 Y314 G315
FADFAD3g3eBA36 T45 G50 R162 R283 Y314 G315
FADFAD3g3eCA36 T45 G50 R162 R283 Y314 G315
FADFAD3g3eDA36 T45 G50 R162 R283 Y314 G315
FADFAD3znnBA36 T45 G50 R162 R283 Y314 G315
FADFAD3znpAA36 T45 G50 R162 R283 Y314 G315
FADFAD3znqAA36 T45 G50 R162 R283 Y314 G315
FADFAD3w4iBA36 T45 G50 R162 R283 Y314 G315
FADFAD3w4iCA36 T45 G50 R162 R283 Y314 G315
FADFAD3w4jAA36 T45 G50 R162 R283 Y314 G315
FADFAD3w4jBA36 T45 G50 R162 R283 Y314 G315
FADFAD3w4jCA36 T45 G50 R162 R283 Y314 G315
FADFAD3w4jDA36 T45 G50 R162 R283 Y314 G315
FADFAD3w4kBA36 T45 G50 R162 R283 Y314 G315
FADFAD3w4kCA36 T45 G50 R162 R283 Y314 G315
FADFAD2e49AA36 T45 V47 G50 R162 G200 R283 Y314 G315
FADFAD3w4kAA36 T45 V47 G50 R162 P284 Y314 G315
FADFAD3cukDA36 T45 V47 G50 R162 R283 P284 Y314 G315
FADFAD3znpBA36 T45 V47 G50 R162 R283 P284 Y314 G315
FADFAD3w4kDA36 T45 V47 G50 R162 R283 P284 Y314 G315
FADFAD2du8AA36 T45 V47 G50 R162 R283 Y314 G315
FADFAD3cukCA36 T45 V47 G50 R162 R283 Y314 G315
FADFAD3znnAA36 T45 V47 G50 R162 R283 Y314 G315
FADFAD3znoAA36 T45 V47 G50 R162 R283 Y314 G315
FADFAD3znoBA36 T45 V47 G50 R162 R283 Y314 G315
FADFAD3w4iAA36 T45 V47 G50 R162 R283 Y314 G315
FADFAD3w4iDA36 T45 V47 G50 R162 R283 Y314 G315
IM3IMINO-DOPA2e82AH217 R283
SE54-(4-CHLOROPHENETHYL)-1H-PYRROLE-2- CARBOXYLIC ACID3znoBH217 R283
2LD3-HYDROXY-5-(2-PHENYLETHYL)PYRIDIN-2(1H)-ONE3w4jAH217 R283
2LD3-HYDROXY-5-(2-PHENYLETHYL)PYRIDIN-2(1H)-ONE3w4jBH217 R283
2LD3-HYDROXY-5-(2-PHENYLETHYL)PYRIDIN-2(1H)-ONE3w4jCH217 R283
2LD3-HYDROXY-5-(2-PHENYLETHYL)PYRIDIN-2(1H)-ONE3w4jDH217 R283
3LD3-HYDROXY-6-(2-PHENYLETHYL)PYRIDAZIN-4(1H)-ONE3w4kAH217 R283
3LD3-HYDROXY-6-(2-PHENYLETHYL)PYRIDAZIN-4(1H)-ONE3w4kCH217 R283
3LD3-HYDROXY-6-(2-PHENYLETHYL)PYRIDAZIN-4(1H)-ONE3w4kDH217 R283
SS83-PHENETHYL-4H-FURO[3,2-B]PYRROLE-5- CARBOXYLIC ACID3znqAL56 H217 R283
SE54-(4-CHLOROPHENETHYL)-1H-PYRROLE-2- CARBOXYLIC ACID3znoAL56 R283
BEZBENZOIC ACID2du8AR283
MH63-HYDROXY-2-IMINOPROPANOIC ACID2e49AR283
BE2ANTHRANILIC ACID2e4aAR283
4P54H-FURO[3,2-B]PYRROLE-5-CARBOXYLIC ACID3cukAR283
4P54H-FURO[3,2-B]PYRROLE-5-CARBOXYLIC ACID3cukBR283
4P54H-FURO[3,2-B]PYRROLE-5-CARBOXYLIC ACID3cukCR283
4P54H-FURO[3,2-B]PYRROLE-5-CARBOXYLIC ACID3cukDR283
G3E3-HYDROXYQUINOLIN-2(1H)-ONE3g3eAR283
G3E3-HYDROXYQUINOLIN-2(1H)-ONE3g3eBR283
G3E3-HYDROXYQUINOLIN-2(1H)-ONE3g3eCR283
G3E3-HYDROXYQUINOLIN-2(1H)-ONE3g3eDR283
4WL4H-THIENO[3,2-B]PYROLE-5-CARBOXYLIC ACID3znnAR283
4WL4H-THIENO[3,2-B]PYROLE-5-CARBOXYLIC ACID3znnBR283
SE23-HYDROXY-2H-CHROMEN-2-ONE3znpAR283
8LGPYRIDINE-2,3-DIOL3w4iAR283
8LGPYRIDINE-2,3-DIOL3w4iBR283
8LGPYRIDINE-2,3-DIOL3w4iCR283
8LGPYRIDINE-2,3-DIOL3w4iDR283
3LD3-HYDROXY-6-(2-PHENYLETHYL)PYRIDAZIN-4(1H)-ONE3w4kBR283
FADFAD2e4aAT45 G50 R162 R283 Y314 G315
FADFAD2e82AT45 V47 G50 R162 R283 P284 Y314 G315


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Conservation information for LBS of DAO
Multiple alignments for P14920 in multiple species
LBSAA sequence# speciesSpecies
A36HMKIYADRFTP2Mus musculus, Rattus norvegicus
A36DIKVYADRFTP1Homo sapiens
A48TTSDVAAGLWQ2Mus musculus, Rattus norvegicus
A48TTTDVAAGLWQ1Homo sapiens
A49TSDVAAGLWQP2Mus musculus, Rattus norvegicus
A49TTDVAAGLWQP1Homo sapiens
A8VAVIGAGVIGL2Mus musculus, Rattus norvegicus
A8VVVIGAGVIGL1Homo sapiens
C181DVIINCTGVWA2Mus musculus, Rattus norvegicus
C181DVIVNCTGVWA1Homo sapiens
D37MKIYADRFTPF2Mus musculus, Rattus norvegicus
D37IKVYADRFTPL1Homo sapiens
G183IINCTGVWAGA2Mus musculus, Rattus norvegicus
G183IVNCTGVWAGA1Homo sapiens
G200LQPGRGQIIQV2Mus musculus, Rattus norvegicus
G200LQPGRGQIMKV1Homo sapiens
G281IGERTGFRPVR1Homo sapiens
G281VGELTGFRPVR1Mus musculus
G281MGELTGFRPVR1Rattus norvegicus
G312HNYGHGGYGLT3Homo sapiens, Mus musculus, Rattus norvegicus
G313NYGHGGYGLTI3Homo sapiens, Mus musculus, Rattus norvegicus
G315GHGGYGLTIHW3Homo sapiens, Mus musculus, Rattus norvegicus
G50SDVAAGLWQPY2Mus musculus, Rattus norvegicus
G50TDVAAGLWQPY1Homo sapiens
G7RVAVIGAGVIG2Mus musculus, Rattus norvegicus
G7RVVVIGAGVIG1Homo sapiens
G9AVIGAGVIGLS2Mus musculus, Rattus norvegicus
G9VVIGAGVIGLS1Homo sapiens
H217HFILTHDPSLG2Mus musculus, Rattus norvegicus
H217HFILTHDPERG1Homo sapiens
H311IHNYGHGGYGL3Homo sapiens, Mus musculus, Rattus norvegicus
I11IGAGVIGLSTA3Homo sapiens, Mus musculus, Rattus norvegicus
I202PGRGQIIQVEA2Mus musculus, Rattus norvegicus
I202PGRGQIMKVDA1Homo sapiens
I223DPSLGIYNSPY2Mus musculus, Rattus norvegicus
I223DPERGIYNSPY1Homo sapiens
I230NSPYIIPGSKT2Mus musculus, Rattus norvegicus
I230NSPYIIPGTQT1Homo sapiens
I6MRVAVIGAGVI2Mus musculus, Rattus norvegicus
I6MRVVVIGAGVI1Homo sapiens
K163KFFQRKVESFE1Homo sapiens
K163KLIHRKVESLE1Mus musculus
K163KFIHRKVASFE1Rattus norvegicus
L189VWAGALQADAS2Mus musculus, Rattus norvegicus
L189VWAGALQRDPL1Homo sapiens
L215IKHFILTHDPS2Mus musculus, Rattus norvegicus
L215MKHFILTHDPE1Homo sapiens
L316HGGYGLTIHWG3Homo sapiens, Mus musculus, Rattus norvegicus
L51DVAAGLWQPYL3Homo sapiens, Mus musculus, Rattus norvegicus
L56LWQPYLSDPSN2Mus musculus, Rattus norvegicus
L56LWQPYLSDPNN1Homo sapiens
P284LTGFRPVRPQV2Mus musculus, Rattus norvegicus
P284RTGFRPVRPQI1Homo sapiens
P54AGLWQPYLSDP3Homo sapiens, Mus musculus, Rattus norvegicus
Q53AAGLWQPYLSD3Homo sapiens, Mus musculus, Rattus norvegicus
R162VKFFQRKVESF1Homo sapiens
R162VKLIHRKVESL1Mus musculus
R162VKFIHRKVASF1Rattus norvegicus
R283ELTGFRPVRPQ2Mus musculus, Rattus norvegicus
R283ERTGFRPVRPQ1Homo sapiens
R38KIYADRFTPFT2Mus musculus, Rattus norvegicus
R38KVYADRFTPLT1Homo sapiens
T182VIINCTGVWAG2Mus musculus, Rattus norvegicus
T182VIVNCTGVWAG1Homo sapiens
T317GGYGLTIHWGC3Homo sapiens, Mus musculus, Rattus norvegicus
T43RFTPFTTSDVA2Mus musculus, Rattus norvegicus
T43RFTPLTTTDVA1Homo sapiens
T44FTPFTTSDVAA2Mus musculus, Rattus norvegicus
T44FTPLTTTDVAA1Homo sapiens
T45TPFTTSDVAAG2Mus musculus, Rattus norvegicus
T45TPLTTTDVAAG1Homo sapiens
V10VIGAGVIGLST3Homo sapiens, Mus musculus, Rattus norvegicus
V164FFQRKVESFEE1Homo sapiens
V164LIHRKVESLEE1Mus musculus
V164FIHRKVASFEE1Rattus norvegicus
V47FTTSDVAAGLW2Mus musculus, Rattus norvegicus
V47LTTTDVAAGLW1Homo sapiens
W185NCTGVWAGALQ3Homo sapiens, Mus musculus, Rattus norvegicus
Y224PSLGIYNSPYI2Mus musculus, Rattus norvegicus
Y224PERGIYNSPYI1Homo sapiens
Y228IYNSPYIIPGS2Mus musculus, Rattus norvegicus
Y228IYNSPYIIPGT1Homo sapiens
Y314YGHGGYGLTIH3Homo sapiens, Mus musculus, Rattus norvegicus


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