mutLBSgeneDB |
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 |
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. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
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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