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mutLBSgeneDB |
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| Gene summary for DNMT3L |
 Gene summary |
| Basic gene Info. | Gene symbol | DNMT3L |
| Gene name | DNA (cytosine-5-)-methyltransferase 3-like | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 21q22.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_013369.3, NM_175867.2, | |
| Description | DNA (cytosine-5)-methyltransferase 3-likecytosine-5-methyltransferase 3-like proteinhuman cytosine-5-methyltransferase 3-like protein | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606588 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000142182 | ||
| HPRD : 09417 | ||
| Vega : OTTHUMG00000086914 | ||
| Protein | UniProt: Q9UJW3 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DNMT3L | |
| BioGPS: 29947 | ||
| Pathway | NCI Pathway Interaction Database: DNMT3L | |
| KEGG: DNMT3L | ||
| REACTOME: DNMT3L | ||
| Pathway Commons: DNMT3L | ||
| Context | iHOP: DNMT3L | |
| ligand binding site mutation search in PubMed: DNMT3L | ||
| UCL Cancer Institute: DNMT3L | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0043085 | positive regulation of catalytic activity | 16543361 | GO:0045892 | negative regulation of transcription, DNA-templated | 12202768 |
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| Ligand binding site mutations for DNMT3L |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | V134 | K133M | LUAD | 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 DNMT3L |
| 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 | V134 | K133M | -0.51525282 |
| (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 DNMT3L from PDB |
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| Differential gene expression and gene-gene network for DNMT3L |
| 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 DNMT3L |
| 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 DNMT3L |
| 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. |
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| 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 DNMT3L go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA) | 2pvc | B | V134 | III | Peptide ligand (ALA,ARG,THR,LYS,GLN,THR,ALA) | 2pvc | C | V134 |
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| Conservation information for LBS of DNMT3L |
| Multiple alignments for Q9UJW3 in multiple species |
| LBS | AA sequence | # species | Species | C118 | CTRCYCFECVD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C121 | CYCFECVDILV | 2 | Mus musculus, Rattus norvegicus | C121 | CYCFECVDSLV | 1 | Homo sapiens | C96 | GHQSYCTICCS | 2 | Mus musculus, Rattus norvegicus | C96 | GYQSYCSICCS | 1 | Homo sapiens | C99 | SYCSICCSGET | 1 | Homo sapiens | C99 | SYCTICCSGGT | 1 | Mus musculus | C99 | SYCTICCSGHT | 1 | Rattus norvegicus | D88 | ALFLYDDDGYQ | 1 | Homo sapiens | D88 | SLFLYDDDGHQ | 1 | Mus musculus | D88 | TLFLYDEDGHQ | 1 | Rattus norvegicus | D90 | FLYDDDGYQSY | 1 | Homo sapiens | D90 | FLYDDDGHQSY | 1 | Mus musculus | D90 | FLYDEDGHQSY | 1 | Rattus norvegicus | E103 | ICCSGETLLIC | 1 | Homo sapiens | E103 | ICCSGGTLFIC | 1 | Mus musculus | E103 | ICCSGHTLFIC | 1 | Rattus norvegicus | G102 | SICCSGETLLI | 1 | Homo sapiens | G102 | TICCSGGTLFI | 1 | Mus musculus | G102 | TICCSGHTLFI | 1 | Rattus norvegicus | H135 | TSERINAMACW | 2 | Mus musculus, Rattus norvegicus | H135 | TSGKVHAMSNW | 1 | Homo sapiens | I107 | GETLLICGNPD | 1 | Homo sapiens | I107 | GGTLFICESPD | 1 | Mus musculus | I107 | GHTLFICESPD | 1 | Rattus norvegicus | L105 | CSGETLLICGN | 1 | Homo sapiens | L105 | CSGGTLFICES | 1 | Mus musculus | L105 | CSGHTLFICES | 1 | Rattus norvegicus | L106 | SGETLLICGNP | 1 | Homo sapiens | L106 | SGGTLFICESP | 1 | Mus musculus | L106 | SGHTLFICESP | 1 | Rattus norvegicus | M137 | ERINAMACWVC | 2 | Mus musculus, Rattus norvegicus | M137 | GKVHAMSNWVC | 1 | Homo sapiens | Q93 | DDDGYQSYCSI | 1 | Homo sapiens | Q93 | DDDGHQSYCTI | 1 | Mus musculus | Q93 | DEDGHQSYCTI | 1 | Rattus norvegicus | S138 | RINAMACWVCF | 2 | Mus musculus, Rattus norvegicus | S138 | KVHAMSNWVCY | 1 | Homo sapiens | T104 | CCSGETLLICG | 1 | Homo sapiens | T104 | CCSGGTLFICE | 1 | Mus musculus | T104 | CCSGHTLFICE | 1 | Rattus norvegicus | V134 | GTSERINAMAC | 2 | Mus musculus, Rattus norvegicus | V134 | GTSGKVHAMSN | 1 | Homo sapiens | W140 | NAMACWVCFLC | 2 | Mus musculus, Rattus norvegicus | W140 | HAMSNWVCYLC | 1 | Homo sapiens | Y92 | YDDDGYQSYCS | 1 | Homo sapiens | Y92 | YDDDGHQSYCT | 1 | Mus musculus | Y92 | YDEDGHQSYCT | 1 | Rattus norvegicus |
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