|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for POLN |
 Gene summary |
| Basic gene Info. | Gene symbol | POLN |
| Gene name | polymerase (DNA directed) nu | |
| Synonyms | POL4P | |
| Cytomap | UCSC genome browser: 4p16.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_181808.3, | |
| Description | DNA polymerase NDNA polymerase POL4PDNA polymerase nu | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 610887 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000130997 | ||
| HPRD : 17876 | ||
| Vega : OTTHUMG00000090081 | ||
| Protein | UniProt: Q7Z5Q5 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_POLN | |
| BioGPS: 353497 | ||
| Pathway | NCI Pathway Interaction Database: POLN | |
| KEGG: POLN | ||
| REACTOME: POLN | ||
| Pathway Commons: POLN | ||
| Context | iHOP: POLN | |
| ligand binding site mutation search in PubMed: POLN | ||
| UCL Cancer Institute: POLN | ||
| 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:0019985 | translesion synthesis | 20102227 |
| Top |
| Ligand binding site mutations for POLN |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R608 | A609S | BLCA | 1 | E628 | R630C | COAD | 1 | S513 | P512T | COAD | 1 | L477 | R475W | COAD | 1 | A683 | V684M | LUSC | 1 | G689 | G689E | SKCM | 1 | S513 | P512R | SKCM | 1 | D803 | L805P | STAD | 1 | K679 | K678N | 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. |
| Top |
| Protein structure related information for POLN |
| 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 | D803 | L805P | -1.8596833 | S513 | P512T | -1.4152583 | R608 | A609S | -1.3727509 | S513 | P512R | -1.278887 | A683 | V684M | -1.0362559 | K679 | K678N | -0.91082993 | E628 | R630C | -0.40574539 | L477 | R475W | -0.2449901 | G689 | G689E | -0.20278373 |
| (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 POLN from PDB |
| Top |
| Differential gene expression and gene-gene network for POLN |
| 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) |
| Top |
| Top |
| Phenotype information for POLN |
| 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 |
| Top |
| Pharmacological information for POLN |
| 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 POLN go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4xvi | A | L477 | NUC | Nucleic Acids | 4xvl | A | L477 | NUC | Nucleic Acids | 4xvk | A | L477 A683 G689 | NUC | Nucleic Acids | 4xvm | A | R608 E628 K679 D803 | NUC | Nucleic Acids | 4xvm | A | S513 A683 G689 | NUC | Nucleic Acids | 4xvi | A | S513 D803 | NUC | Nucleic Acids | 4xvl | A | S513 D803 | NUC | Nucleic Acids | 4xvk | A | S513 R608 E628 K679 D803 |
| Top |
| Conservation information for LBS of POLN |
| Multiple alignments for Q7Z5Q5 in multiple species |
| LBS | AA sequence | # species | Species |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |