|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for RND1 |
 Gene summary |
| Basic gene Info. | Gene symbol | RND1 |
| Gene name | Rho family GTPase 1 | |
| Synonyms | ARHS|RHO6|RHOS | |
| Cytomap | UCSC genome browser: 12q12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_014470.3, | |
| Description | ras homolog gene family, member Srho-related GTP-binding protein Rho6 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 609038 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000172602 | ||
| HPRD : 12357 | ||
| Vega : OTTHUMG00000170400 | ||
| Protein | UniProt: Q92730 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RND1 | |
| BioGPS: 27289 | ||
| Pathway | NCI Pathway Interaction Database: RND1 | |
| KEGG: RND1 | ||
| REACTOME: RND1 | ||
| Pathway Commons: RND1 | ||
| Context | iHOP: RND1 | |
| ligand binding site mutation search in PubMed: RND1 | ||
| UCL Cancer Institute: RND1 | ||
| 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:0007015 | actin filament organization | 11095956 | GO:0007162 | negative regulation of cell adhesion | 9531558 | GO:0016322 | neuron remodeling | 11095956 |
| Top |
| Ligand binding site mutations for RND1 |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L129 | R130Q | COAD | 1 | A169 | A169V | SKCM | 1 | L129 | R130Q | 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 RND1 |
| 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 | L129 | R130Q | -1.1259022 | A169 | A169V | -0.27729523 |
| (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 RND1 from PDB |
| Top |
| Differential gene expression and gene-gene network for RND1 |
| 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 RND1 |
| 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 RND1 |
| 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 RND1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GTP | GTP | 2cls | A | L129 A169 | GTP | GTP | 2cls | B | L129 A169 | GNP | PHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER | 2rex | B | L129 A169 | GNP | PHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER | 2rex | D | L129 A169 | GNP | PHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER | 3q3j | B | L129 A169 |
| Top |
| Conservation information for LBS of RND1 |
| Multiple alignments for Q92730 in multiple species |
| LBS | AA sequence | # species | Species | A169 | YLEGSAFTSEK | 2 | Homo sapiens, Bos taurus | A169 | YLEGSAFTSET | 1 | Mus musculus | A28 | QCGKTAMLQVL | 3 | Homo sapiens, Mus musculus, Bos taurus | C24 | VGDVQCGKTAM | 3 | Homo sapiens, Mus musculus, Bos taurus | D128 | IGCKTDLRTDL | 3 | Homo sapiens, Mus musculus, Bos taurus | E40 | KDCYPETYVPT | 3 | Homo sapiens, Mus musculus, Bos taurus | F170 | LEGSAFTSEKS | 2 | Homo sapiens, Bos taurus | F170 | LEGSAFTSETS | 1 | Mus musculus | G25 | GDVQCGKTAML | 3 | Homo sapiens, Mus musculus, Bos taurus | G70 | LWDTSGSPYYD | 3 | Homo sapiens, Mus musculus, Bos taurus | K126 | LLIGCKTDLRT | 3 | Homo sapiens, Mus musculus, Bos taurus | K26 | DVQCGKTAMLQ | 3 | Homo sapiens, Mus musculus, Bos taurus | L129 | GCKTDLRTDLS | 3 | Homo sapiens, Mus musculus, Bos taurus | P39 | AKDCYPETYVP | 3 | Homo sapiens, Mus musculus, Bos taurus | Q23 | LVGDVQCGKTA | 3 | Homo sapiens, Mus musculus, Bos taurus | S168 | IYLEGSAFTSE | 3 | Homo sapiens, Mus musculus, Bos taurus | S69 | SLWDTSGSPYY | 3 | Homo sapiens, Mus musculus, Bos taurus | T27 | VQCGKTAMLQV | 3 | Homo sapiens, Mus musculus, Bos taurus | T41 | DCYPETYVPTV | 3 | Homo sapiens, Mus musculus, Bos taurus | T45 | ETYVPTVFENY | 3 | Homo sapiens, Mus musculus, Bos taurus | V22 | VLVGDVQCGKT | 3 | Homo sapiens, Mus musculus, Bos taurus | Y38 | LAKDCYPETYV | 3 | Homo sapiens, Mus musculus, Bos taurus | Y42 | CYPETYVPTVF | 3 | Homo sapiens, Mus musculus, Bos taurus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |