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 DMAP1
Gene summary
Basic gene Info.Gene symbolDMAP1
Gene nameDNA methyltransferase 1 associated protein 1
CytomapUCSC genome browser: 1p34
Type of geneprotein-coding
DescriptionDNA methyltransferase 1-associated protein 1DNMT1 associated protein 1DNMT1-associated protein 1
Modification date20141207
dbXrefs MIM : 605077
Ensembl : ENSG00000178028
HPRD : 05465
Vega : OTTHUMG00000007577
ProteinUniProt: Q9NPF5
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_DMAP1
BioGPS: 55929
PathwayNCI Pathway Interaction Database: DMAP1
Pathway Commons: DMAP1
ContextiHOP: DMAP1
ligand binding site mutation search in PubMed: DMAP1
UCL Cancer Institute: DMAP1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0000122negative regulation of transcription from RNA polymerase II promoter15367675
GO:0042993positive regulation of transcription factor import into nucleus15367675
GO:0043967histone H4 acetylation14966270
GO:0043968histone H2A acetylation14966270

Ligand binding site mutations for DMAP1
Lollipop-style diagram of mutations at LBS in amino-acid sequence.
We represented ligand binding site mutations only. (You can see big image via clicking.)
: non-synonymous mutation on LBS, Circle size denotes number of samples.

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

Protein structure related information for DMAP1
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
(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 DMAP1 from PDB

Differential gene expression and gene-gene network for DMAP1
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 DMAP1 and the right PPI network was created from samples without mutations in the LBS of DMAP1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for DMAP1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

Pharmacological information for DMAP1
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of DMAP1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)3hm5AR165 D168
CACALCIUM(2+)4iejAR165 D168

Conservation information for LBS of DMAP1
Multiple alignments for Q9NPF5 in multiple species
LBSAA sequence# speciesSpecies
D168LSRRFDLRFVV2Homo sapiens, Mus musculus
D168FCQNFDLRFVV1Arabidopsis thaliana
R165LFDLSRRFDLR2Homo sapiens, Mus musculus
R165LFEFCQNFDLR1Arabidopsis thaliana

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