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mutLBSgeneDB |
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| Gene summary for ELAC1 |
 Gene summary |
| Basic gene Info. | Gene symbol | ELAC1 |
| Gene name | elaC ribonuclease Z 1 | |
| Synonyms | D29 | |
| Cytomap | UCSC genome browser: 18q21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_018696.2, | |
| Description | RNase Z 1RNaseZ(S)deleted in Ma29elaC homolog 1elaC homolog protein 1ribonuclease Z 1tRNA 3 endonuclease 1tRNA 3' processing endoribonucleasetRNA Z (short form)tRNase Z 1tRNase ZSzinc phosphodiesterase ELAC protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 608079 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000141642 | ||
| HPRD : 16275 | ||
| Vega : OTTHUMG00000132695 | ||
| Protein | UniProt: Q9H777 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ELAC1 | |
| BioGPS: 55520 | ||
| Pathway | NCI Pathway Interaction Database: ELAC1 | |
| KEGG: ELAC1 | ||
| REACTOME: ELAC1 | ||
| Pathway Commons: ELAC1 | ||
| Context | iHOP: ELAC1 | |
| ligand binding site mutation search in PubMed: ELAC1 | ||
| UCL Cancer Institute: ELAC1 | ||
| 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 ELAC1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | D253 | D253Y | LUAD | 1 | H67 | H67Q | 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 ELAC1 |
| 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 | H67 | H67Q | -0.75134851 | D253 | D253Y | -0.36738345 |
| (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 ELAC1 from PDB |
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| Differential gene expression and gene-gene network for ELAC1 |
| 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 ELAC1 |
| 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 ELAC1 |
| 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 ELAC1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3zwf | A | D253 | ZN | ZINC(2+) | 3zwf | B | D253 | ZN | ZINC(2+) | 3zwf | A | H67 D253 | ZN | ZINC(2+) | 3zwf | B | H67 D253 |
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| Conservation information for LBS of ELAC1 |
| Multiple alignments for Q9H777 in multiple species |
| LBS | AA sequence | # species | Species | D253 | ICILGDCSGVV | 2 | Homo sapiens, Bos taurus | D253 | VCILGDCSGVV | 1 | Mus musculus | D66 | THLHGDHFFGL | 3 | Homo sapiens, Mus musculus, Bos taurus | H182 | AFRLFHRIPSF | 3 | Homo sapiens, Mus musculus, Bos taurus | H313 | RLVLTHFSQRY | 3 | Homo sapiens, Mus musculus, Bos taurus | H62 | KIFITHLHGDH | 3 | Homo sapiens, Mus musculus, Bos taurus | H64 | FITHLHGDHFF | 3 | Homo sapiens, Mus musculus, Bos taurus | H67 | HLHGDHFFGLP | 3 | Homo sapiens, Mus musculus, Bos taurus |
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