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mutLBSgeneDB |
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| Gene summary for LIG3 |
 Gene summary |
| Basic gene Info. | Gene symbol | LIG3 |
| Gene name | ligase III, DNA, ATP-dependent | |
| Synonyms | LIG2 | |
| Cytomap | UCSC genome browser: 17q11.2-q12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002311.4, NM_013975.3, | |
| Description | DNA ligase 3ligase II, DNA, ATP-dependentpolydeoxyribonucleotide synthase [ATP] 3 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600940 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000005156 | ||
| HPRD : 02966 | ||
| Vega : OTTHUMG00000128519 | ||
| Protein | UniProt: P49916 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_LIG3 | |
| BioGPS: 3980 | ||
| Pathway | NCI Pathway Interaction Database: LIG3 | |
| KEGG: LIG3 | ||
| REACTOME: LIG3 | ||
| Pathway Commons: LIG3 | ||
| Context | iHOP: LIG3 | |
| ligand binding site mutation search in PubMed: LIG3 | ||
| UCL Cancer Institute: LIG3 | ||
| 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:0033151 | V(D)J recombination | 9809069 |
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| Ligand binding site mutations for LIG3 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | N322,N320 | L321F | BLCA | 1 | H733 | H733Y | LUAD | 1 | F595 | D596H | LUAD | 1 | G732,A730 | G731E | LUSC | 1 | I710 | I710V | OV | 1 | H795 | T796K | OV | 1 | K704 | G706S | SKCM | 1 | G700 | Y699C | STAD | 1 | K531 | V533I | STAD | 1 | C108 | K107T | STAD | 1 | G425 | A426V | 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 LIG3 |
| 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 | K704 | G706S | -1.2127206 | N320 | L321F | -1.0712567 | N322 | L321F | -1.0712567 | G425 | A426V | -1.0551956 | K531 | V533I | -0.98394908 | F595 | D596H | -0.83837232 | C108 | K107T | -0.66139492 | I710 | I710V | -0.50590702 | G732 | G731E | -0.46153443 | A730 | G731E | -0.46153443 | G700 | Y699C | -0.27903216 | H733 | H733Y | -0.095353546 | H795 | T796K | -0.074268357 |
| (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 LIG3 from PDB |
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| Differential gene expression and gene-gene network for LIG3 |
| 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 LIG3 |
| 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 LIG3 |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00290 | Bleomycin | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of LIG3 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of LIG3 |
| Multiple alignments for P49916 in multiple species |
| LBS | AA sequence | # species | Species |
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