mutated Ligand Binding Site gene DataBase





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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for ELAC1
Gene summary
Basic gene Info.Gene symbolELAC1
Gene nameelaC ribonuclease Z 1
CytomapUCSC genome browser: 18q21
Type of geneprotein-coding
DescriptionRNase 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 date20141207
dbXrefs MIM : 608079
Ensembl : ENSG00000141642
HPRD : 16275
Vega : OTTHUMG00000132695
ProteinUniProt: Q9H777
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_ELAC1
BioGPS: 55520
PathwayNCI Pathway Interaction Database: ELAC1
Pathway Commons: ELAC1
ContextiHOP: ELAC1
ligand binding site mutation search in PubMed: ELAC1
UCL Cancer Institute: ELAC1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for ELAC1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
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.

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

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.
LBSAAchange of nsSNVRelative stability change
(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

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)
* Left PPI network was created from samples with mutations in the LBS of ELAC1 and the right PPI network was created from samples without mutations in the LBS of ELAC1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for ELAC1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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.
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of ELAC1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
ZNZINC(2+)3zwfAH67 D253
ZNZINC(2+)3zwfBH67 D253

Conservation information for LBS of ELAC1
Multiple alignments for Q9H777 in multiple species
LBSAA sequence# speciesSpecies
D253ICILGDCSGVV2Homo sapiens, Bos taurus
D253VCILGDCSGVV1Mus musculus
D66THLHGDHFFGL3Homo sapiens, Mus musculus, Bos taurus
H182AFRLFHRIPSF3Homo sapiens, Mus musculus, Bos taurus
H313RLVLTHFSQRY3Homo sapiens, Mus musculus, Bos taurus
H62KIFITHLHGDH3Homo sapiens, Mus musculus, Bos taurus
H64FITHLHGDHFF3Homo sapiens, Mus musculus, Bos taurus
H67HLHGDHFFGLP3Homo sapiens, Mus musculus, Bos taurus

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