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 ALKBH3
Gene summary
Basic gene Info.Gene symbolALKBH3
Gene namealkB, alkylation repair homolog 3 (E. coli)
SynonymsABH3|DEPC-1|DEPC1|PCA1
CytomapUCSC genome browser: 11p11.2
Type of geneprotein-coding
RefGenesNM_139178.3,
Descriptionalkylated DNA repair protein alkB homolog 3alpha-ketoglutarate-dependent dioxygenase alkB homolog 3prostate cancer antigen 1prostate cancer antigen-1
Modification date20141207
dbXrefs MIM : 610603
HGNC : HGNC
Ensembl : ENSG00000166199
HPRD : 16793
Vega : OTTHUMG00000166417
ProteinUniProt: Q96Q83
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ALKBH3
BioGPS: 221120
PathwayNCI Pathway Interaction Database: ALKBH3
KEGG: ALKBH3
REACTOME: ALKBH3
Pathway Commons: ALKBH3
ContextiHOP: ALKBH3
ligand binding site mutation search in PubMed: ALKBH3
UCL Cancer Institute: ALKBH3
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:0006281DNA repair16858410
GO:0006307DNA dealkylation involved in DNA repair16858410
GO:0035552oxidative single-stranded DNA demethylation16858410


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Ligand binding site mutations for ALKBH3

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D254D254NUCEC1
R275R275QUCEC1
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 ALKBH3
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
R275R275Q-1.3094524
D254D254N-0.96014536
(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 ALKBH3 from PDB

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Differential gene expression and gene-gene network for ALKBH3
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 ALKBH3 and the right PPI network was created from samples without mutations in the LBS of ALKBH3. 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 ALKBH3
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for ALKBH3

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|nutraceuticalDB00126Vitamin CSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ALKBH3 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
FEIRON(3+)2iuwAD254
AKG2-OXOGLUTARIC ACID2iuwAR275


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Conservation information for LBS of ALKBH3
Multiple alignments for Q96Q83 in multiple species
LBSAA sequence# speciesSpecies
A250LIMEGATQADW4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D193VDWHSDDEPSL4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
D254GATQADWQHRV4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
E75RVIDREGVYEI3Homo sapiens, Mus musculus, Rattus norvegicus
E75RVIEKEGVYEI1Bos taurus
G86SLSPTGVSRVC3Homo sapiens, Mus musculus, Rattus norvegicus
G86SMSPTGISRVC1Bos taurus
H191DSVDWHSDDEP4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
H257QADWQHRVPKE4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
L177TFNSLLCNFYR2Mus musculus, Rattus norvegicus
L177TFNSLLCNLYR1Homo sapiens
L177SFNSLLCNLYR1Bos taurus
L82VYEISLSPTGV3Homo sapiens, Mus musculus, Rattus norvegicus
L82VYEISMSPTGI1Bos taurus
N179NSLLCNLYRNE2Homo sapiens, Bos taurus
N179NSLLCNFYRDE2Mus musculus, Rattus norvegicus
N271REPRVNLTFRT1Homo sapiens
N271RQPRVNLTFRT1Mus musculus
N271RERRVNLTFRT1Rattus norvegicus
N271REPRINLTFRT1Bos taurus
R269HSREPRVNLTF1Homo sapiens
R269HSRQPRVNLTF1Mus musculus
R269HSRERRVNLTF1Rattus norvegicus
R269HSREPRINLTF1Bos taurus
R275VNLTFRTVYPD3Homo sapiens, Mus musculus, Rattus norvegicus
R275INLTFRTVYPD1Bos taurus
R74PRVIDREGVYE3Homo sapiens, Mus musculus, Rattus norvegicus
R74PRVIEKEGVYE1Bos taurus
S81GVYEISLSPTG3Homo sapiens, Mus musculus, Rattus norvegicus
S81GVYEISMSPTG1Bos taurus
S83YEISLSPTGVS3Homo sapiens, Mus musculus, Rattus norvegicus
S83YEISMSPTGIS1Bos taurus
S88SPTGVSRVCLY3Homo sapiens, Mus musculus, Rattus norvegicus
S88SPTGISRVCLC1Bos taurus
V259DWQHRVPKEYH4Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus
Y181LLCNLYRNEKD2Homo sapiens, Bos taurus
Y181LLCNFYRDEKD2Mus musculus, Rattus norvegicus


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