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mutLBSgeneDB |
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| Gene summary for MEPCE |
 Gene summary |
| Basic gene Info. | Gene symbol | MEPCE |
| Gene name | methylphosphate capping enzyme | |
| Synonyms | BCDIN3 | |
| Cytomap | UCSC genome browser: 7q22.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001194990.1, NM_001194991.1,NM_001194992.1,NM_019606.5, | |
| Description | 7SK snRNA methylphosphate capping enzymebicoid-interacting protein 3 homologbin3 homologbin3, bicoid-interacting 3, homolog | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 611478 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000146834 | ||
| HPRD : 07889 | ||
| Vega : OTTHUMG00000155255 | ||
| Protein | UniProt: Q7L2J0 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MEPCE | |
| BioGPS: 56257 | ||
| Pathway | NCI Pathway Interaction Database: MEPCE | |
| KEGG: MEPCE | ||
| REACTOME: MEPCE | ||
| Pathway Commons: MEPCE | ||
| Context | iHOP: MEPCE | |
| ligand binding site mutation search in PubMed: MEPCE | ||
| UCL Cancer Institute: MEPCE | ||
| 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:0001510 | RNA methylation | 17643375 | GO:0016073 | snRNA metabolic process | 17643375 | GO:0040031 | snRNA modification | 17643375 |
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| Ligand binding site mutations for MEPCE |
| 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 | L479 | R478Q | 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 MEPCE |
| 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 | L479 | R478Q | -1.0151649 |
| (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 MEPCE from PDB |
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| Differential gene expression and gene-gene network for MEPCE |
| 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 MEPCE |
| 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 MEPCE |
| 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 MEPCE go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SAM | S-ADENOSYL-L-METHIONINE | 3g07 | A | L479 | SAM | S-ADENOSYL-L-METHIONINE | 3g07 | B | L479 | SAM | S-ADENOSYL-L-METHIONINE | 3g07 | C | L479 | SAM | S-ADENOSYL-L-METHIONINE | 3g07 | D | L479 | SAM | S-ADENOSYL-L-METHIONINE | 3g07 | E | L479 | SAM | S-ADENOSYL-L-METHIONINE | 3g07 | F | L479 |
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| Conservation information for LBS of MEPCE |
| Multiple alignments for Q7L2J0 in multiple species |
| LBS | AA sequence | # species | Species | D474 | RMVGLDIDSRL | 1 | Homo sapiens | D474 | SILGVDIDTSR | 1 | Arabidopsis thaliana | D474 | RMVGLDIDPRL | 1 | Mus musculus | G451 | DVLDLGCNVGH | 2 | Homo sapiens, Mus musculus | G451 | DCLDIGCNSGI | 1 | Arabidopsis thaliana | G558 | VVFVTGNYVLD | 2 | Homo sapiens, Mus musculus | G558 | VSFQKENFVQT | 1 | Arabidopsis thaliana | I475 | MVGLDIDSRLI | 1 | Homo sapiens | I475 | ILGVDIDTSRI | 1 | Arabidopsis thaliana | I475 | MVGLDIDPRLI | 1 | Mus musculus | L479 | DIDSRLIHSAR | 1 | Homo sapiens | L479 | DIDTSRIEDAH | 1 | Arabidopsis thaliana | L479 | DIDPRLIHSAR | 1 | Mus musculus | L581 | DVVLCLSLTKW | 1 | Homo sapiens | L581 | DTILCLSVTKW | 1 | Arabidopsis thaliana | L581 | DVVLCFSLTKW | 1 | Mus musculus | L583 | VLCLSLTKWVH | 1 | Homo sapiens | L583 | ILCLSVTKWVH | 1 | Arabidopsis thaliana | L583 | VLCFSLTKWVH | 1 | Mus musculus | N453 | LDLGCNVGHLT | 2 | Homo sapiens, Mus musculus | N453 | LDIGCNSGIMT | 1 | Arabidopsis thaliana | N559 | VFVTGNYVLDR | 2 | Homo sapiens, Mus musculus | N559 | SFQKENFVQTR | 1 | Arabidopsis thaliana | S582 | VVLCLSLTKWV | 1 | Homo sapiens | S582 | TILCLSVTKWV | 1 | Arabidopsis thaliana | S582 | VVLCFSLTKWV | 1 | Mus musculus | V561 | VTGNYVLDRDD | 1 | Homo sapiens | V561 | QKENFVQTRN- | 1 | Arabidopsis thaliana | V561 | VTGNYVLDRDE | 1 | Mus musculus | W586 | LSLTKWVHLNW | 1 | Homo sapiens | W586 | LSVTKWVHLNW | 1 | Arabidopsis thaliana | W586 | FSLTKWVHLNW | 1 | Mus musculus | W591 | WVHLNWGDEGL | 2 | Homo sapiens, Mus musculus | W591 | WVHLNWGDDGL | 1 | Arabidopsis thaliana | Y560 | FVTGNYVLDRD | 2 | Homo sapiens, Mus musculus | Y560 | FQKENFVQTRN | 1 | Arabidopsis thaliana |
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