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mutLBSgeneDB |
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| Gene summary for DMAP1 |
 Gene summary |
| Basic gene Info. | Gene symbol | DMAP1 |
| Gene name | DNA methyltransferase 1 associated protein 1 | |
| Synonyms | DNMAP1|DNMTAP1|EAF2|MEAF2|SWC4 | |
| Cytomap | UCSC genome browser: 1p34 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001034023.1, NM_001034024.1,NM_019100.4, | |
| Description | DNA methyltransferase 1-associated protein 1DNMT1 associated protein 1DNMT1-associated protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605077 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000178028 | ||
| HPRD : 05465 | ||
| Vega : OTTHUMG00000007577 | ||
| Protein | UniProt: Q9NPF5 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DMAP1 | |
| BioGPS: 55929 | ||
| Pathway | NCI Pathway Interaction Database: DMAP1 | |
| KEGG: DMAP1 | ||
| REACTOME: DMAP1 | ||
| Pathway Commons: DMAP1 | ||
| Context | iHOP: DMAP1 | |
| ligand binding site mutation search in PubMed: DMAP1 | ||
| UCL Cancer Institute: DMAP1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0000122 | negative regulation of transcription from RNA polymerase II promoter | 15367675 | GO:0042993 | positive regulation of transcription factor import into nucleus | 15367675 | GO:0043967 | histone H4 acetylation | 14966270 | GO:0043968 | histone H2A acetylation | 14966270 |
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| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D168 | R170H | COAD | 1 | R165 | R166H | STAD | 1 | D168 | D168H | UCEC | 1 |
| 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 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 |
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| 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. |
| LBS | AAchange of nsSNV | Relative stability change | D168 | R170H | -1.7129201 | R165 | R166H | -1.264425 | D168 | D168H | -0.69130966 |
| (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 |
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| 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) |
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| Phenotype information for DMAP1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for DMAP1 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of DMAP1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 3hm5 | A | R165 D168 | CA | CALCIUM(2+) | 4iej | A | R165 D168 |
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| Conservation information for LBS of DMAP1 |
| Multiple alignments for Q9NPF5 in multiple species |
| LBS | AA sequence | # species | Species | D168 | LSRRFDLRFVV | 2 | Homo sapiens, Mus musculus | D168 | FCQNFDLRFVV | 1 | Arabidopsis thaliana | R165 | LFDLSRRFDLR | 2 | Homo sapiens, Mus musculus | R165 | LFEFCQNFDLR | 1 | Arabidopsis thaliana |
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