mutLBSgeneDB

mutLBSgeneDB
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 RHEBL1
Gene summary
Basic gene Info.Gene symbolRHEBL1
Gene nameRas homolog enriched in brain like 1
SynonymsRHEBL1c
CytomapUCSC genome browser: 12q13.12
Type of geneprotein-coding
RefGenesNM_001303126.1,
NM_144593.2,NR_130123.1,
DescriptionGTPase RhebL1Ras homolog enriched in brain like 1 cras homolog enriched in brain like-1 cras homolog enriched in brain-like protein 1rheb-like protein 1rheb2
Modification date20141218
dbXrefs HGNC : HGNC
Ensembl : ENSG00000167550
HPRD : 15245
Vega : OTTHUMG00000170407
ProteinUniProt: Q8TAI7
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_RHEBL1
BioGPS: 121268
PathwayNCI Pathway Interaction Database: RHEBL1
KEGG: RHEBL1
REACTOME: RHEBL1
Pathway Commons: RHEBL1
ContextiHOP: RHEBL1
ligand binding site mutation search in PubMed: RHEBL1
UCL Cancer Institute: RHEBL1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0051092positive regulation of NF-kappaB transcription factor activity16328882


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Ligand binding site mutations for RHEBL1

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
G63A62THNSC1
Y35Y35HSKCM1
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 RHEBL1
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
Y35Y35H-1.2819741
G63A62T-0.77522822
(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 RHEBL1 from PDB

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Differential gene expression and gene-gene network for RHEBL1
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 RHEBL1 and the right PPI network was created from samples without mutations in the LBS of RHEBL1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for RHEBL1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

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

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Pharmacological information for RHEBL1
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 RHEBL1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
GNPPHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER3oesAY35 G63


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Conservation information for LBS of RHEBL1
Multiple alignments for Q8TAI7 in multiple species
LBSAA sequence# speciesSpecies
A150FMESSARDNQL2Mus musculus, Rattus norvegicus
A150FMESSARENQL1Homo sapiens
A150FMESSARNNQL1Bos taurus
C16ILGYRSVGKTS2Mus musculus, Rattus norvegicus
C16ILGYRCVGKTS1Homo sapiens
C16PLLLK--GKTS1Bos taurus
D122VGNKADLSPER2Homo sapiens, Mus musculus
D122VGNKADLSPDR1Bos taurus
D122VGNKADLSADR1Rattus norvegicus
E33EGEFSEGYDPT1Homo sapiens
E33EGEFLEDYDPT1Bos taurus
E33EGEFLEGYDPT1Mus musculus
E33EGEFLKGYDPT1Rattus norvegicus
F31FVEGEFSEGYD1Homo sapiens
F31FVEGEFLEDYD1Bos taurus
F31FVEGEFLEGYD1Mus musculus
F31FVEGEFLKGYD1Rattus norvegicus
G18GYRSVGKTSLA2Mus musculus, Rattus norvegicus
G18GYRCVGKTSLA1Homo sapiens
G18LLK--GKTSLA1Bos taurus
G34GEFSEGYDPTV1Homo sapiens
G34GEFLEDYDPTV1Bos taurus
G34GEFLEGYDPTV1Mus musculus
G34GEFLKGYDPTV1Rattus norvegicus
G63LVDTAGQDEYS3Homo sapiens, Bos taurus, Mus musculus
G63LVDTAGQDKYS1Rattus norvegicus
K120VLVGNKADLSP2Homo sapiens, Bos taurus
K120LLVGNKADLSP1Mus musculus
K120LLVGNKADLSA1Rattus norvegicus
K19YRSVGKTSLAH2Mus musculus, Rattus norvegicus
K19YRCVGKTSLAH1Homo sapiens
K19LK--GKTSLAH1Bos taurus
L123GNKADLSPERE2Homo sapiens, Mus musculus
L123GNKADLSPDRE1Bos taurus
L123GNKADLSADRE1Rattus norvegicus
N119VVLVGNKADLS2Homo sapiens, Bos taurus
N119VLLVGNKADLS2Mus musculus, Rattus norvegicus
P37SEGYDPTVENT1Homo sapiens
P37LEDYDPTVENT1Bos taurus
P37LEGYDPTVENT1Mus musculus
P37LKGYDPTVENT1Rattus norvegicus
R15AILGYRSVGKT2Mus musculus, Rattus norvegicus
R15VILGYRCVGKT1Homo sapiens
R15VPLLLK--GKT1Bos taurus
R151MESSARENQLT1Homo sapiens
R151MESSARNNQLT1Bos taurus
R151MESSARDNQLT1Mus musculus
R151MESSARDNQLI1Rattus norvegicus
S149TFMESSARENQ1Homo sapiens
S149TFMESSARNNQ1Bos taurus
S149MFMESSARDNQ1Mus musculus
S149TFMESSARDNQ1Rattus norvegicus
S21SVGKTSLAHQF2Mus musculus, Rattus norvegicus
S21CVGKTSLAHQF1Homo sapiens
S21--GKTSLAHQF1Bos taurus
S32VEGEFSEGYDP1Homo sapiens
S32VEGEFLEDYDP1Bos taurus
S32VEGEFLEGYDP1Mus musculus
S32VEGEFLKGYDP1Rattus norvegicus
T20RSVGKTSLAHQ2Mus musculus, Rattus norvegicus
T20RCVGKTSLAHQ1Homo sapiens
T20K--GKTSLAHQ1Bos taurus
T38EGYDPTVENTY2Homo sapiens, Mus musculus
T38EDYDPTVENTY1Bos taurus
T38KGYDPTVENTY1Rattus norvegicus
V17LGYRSVGKTSL2Mus musculus, Rattus norvegicus
V17LGYRCVGKTSL1Homo sapiens
V17LLLK--GKTSL1Bos taurus
Y35EFSEGYDPTVE1Homo sapiens
Y35EFLEDYDPTVE1Bos taurus
Y35EFLEGYDPTVE1Mus musculus
Y35EFLKGYDPTVE1Rattus norvegicus


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