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mutLBSgeneDB |
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| Gene summary for POLM |
 Gene summary |
| Basic gene Info. | Gene symbol | POLM |
| Gene name | polymerase (DNA directed), mu | |
| Synonyms | Pol Mu|Tdt-N | |
| Cytomap | UCSC genome browser: 7p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001284330.1, NM_001284331.1,NM_013284.3,NR_104299.1, | |
| Description | DNA polymerase muDNA-directed DNA/RNA polymerase muPol iotapolymerase (DNA-directed), muterminal transferase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606344 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000122678 | ||
| HPRD : 16208 | ||
| Vega : OTTHUMG00000155353 | ||
| Protein | UniProt: Q9NP87 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_POLM | |
| BioGPS: 27434 | ||
| Pathway | NCI Pathway Interaction Database: POLM | |
| KEGG: POLM | ||
| REACTOME: POLM | ||
| Pathway Commons: POLM | ||
| Context | iHOP: POLM | |
| ligand binding site mutation search in PubMed: POLM | ||
| UCL Cancer Institute: POLM | ||
| 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 |
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| Ligand binding site mutations for POLM |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E207 | E207Q | BLCA | 1 | G433 | L432F | BLCA | 1 | T250 | D252E | BRCA | 1 | G245 | G245W | LUAD | 1 | R175 | R175C | LUAD | 1 | R175 | R175H | OV | 1 | F244 | F244S | STAD | 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 POLM |
| 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 | E207 | E207Q | -1.1078872 | G245 | G245W | -1.0682578 | F244 | F244S | -1.0149177 | R175 | R175H | -0.8410106 | T250 | D252E | -0.67727757 | G433 | L432F | -0.66505157 | R175 | R175C | -0.63885411 |
| (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 POLM from PDB |
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| Differential gene expression and gene-gene network for POLM |
| 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 POLM |
| 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 POLM |
| 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 POLM go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4ycx | A | F244 G245 T250 | NUC | Nucleic Acids | 4yd2 | A | F244 G245 T250 G433 | NUC | Nucleic Acids | 4yd1 | A | G245 T250 | DUP | 2'-DEOXYURIDINE 5'-ALPHA,BETA-IMIDO-TRIPHOSPHATE | 4yd1 | A | G433 | NUC | Nucleic Acids | 4ycx | A | R175 E207 | NUC | Nucleic Acids | 4yd1 | A | R175 E207 | NUC | Nucleic Acids | 4yd2 | A | R175 E207 |
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| Conservation information for LBS of POLM |
| Multiple alignments for Q9NP87 in multiple species |
| LBS | AA sequence | # species | Species |
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