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mutLBSgeneDB |
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| Gene summary for RHEBL1 |
 Gene summary |
| Basic gene Info. | Gene symbol | RHEBL1 |
| Gene name | Ras homolog enriched in brain like 1 | |
| Synonyms | RHEBL1c | |
| Cytomap | UCSC genome browser: 12q13.12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001303126.1, NM_144593.2,NR_130123.1, | |
| Description | GTPase 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 date | 20141218 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000167550 | ||
| HPRD : 15245 | ||
| Vega : OTTHUMG00000170407 | ||
| Protein | UniProt: Q8TAI7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RHEBL1 | |
| BioGPS: 121268 | ||
| Pathway | NCI Pathway Interaction Database: RHEBL1 | |
| KEGG: RHEBL1 | ||
| REACTOME: RHEBL1 | ||
| Pathway Commons: RHEBL1 | ||
| Context | iHOP: RHEBL1 | |
| ligand binding site mutation search in PubMed: RHEBL1 | ||
| UCL Cancer Institute: RHEBL1 | ||
| 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:0051092 | positive regulation of NF-kappaB transcription factor activity | 16328882 |
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| Ligand binding site mutations for RHEBL1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | G63 | A62T | HNSC | 1 | Y35 | Y35H | SKCM | 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 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 |
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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 | Y35 | Y35H | -1.2819741 | G63 | A62T | -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) |
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| Phenotype information for RHEBL1 |
| 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 RHEBL1 |
| 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 RHEBL1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | GNP | PHOSPHOAMINOPHOSPHONIC ACID-GUANYLATE ESTER | 3oes | A | Y35 G63 |
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| Conservation information for LBS of RHEBL1 |
| Multiple alignments for Q8TAI7 in multiple species |
| LBS | AA sequence | # species | Species | A150 | FMESSARDNQL | 2 | Mus musculus, Rattus norvegicus | A150 | FMESSARENQL | 1 | Homo sapiens | A150 | FMESSARNNQL | 1 | Bos taurus | C16 | ILGYRSVGKTS | 2 | Mus musculus, Rattus norvegicus | C16 | ILGYRCVGKTS | 1 | Homo sapiens | C16 | PLLLK--GKTS | 1 | Bos taurus | D122 | VGNKADLSPER | 2 | Homo sapiens, Mus musculus | D122 | VGNKADLSPDR | 1 | Bos taurus | D122 | VGNKADLSADR | 1 | Rattus norvegicus | E33 | EGEFSEGYDPT | 1 | Homo sapiens | E33 | EGEFLEDYDPT | 1 | Bos taurus | E33 | EGEFLEGYDPT | 1 | Mus musculus | E33 | EGEFLKGYDPT | 1 | Rattus norvegicus | F31 | FVEGEFSEGYD | 1 | Homo sapiens | F31 | FVEGEFLEDYD | 1 | Bos taurus | F31 | FVEGEFLEGYD | 1 | Mus musculus | F31 | FVEGEFLKGYD | 1 | Rattus norvegicus | G18 | GYRSVGKTSLA | 2 | Mus musculus, Rattus norvegicus | G18 | GYRCVGKTSLA | 1 | Homo sapiens | G18 | LLK--GKTSLA | 1 | Bos taurus | G34 | GEFSEGYDPTV | 1 | Homo sapiens | G34 | GEFLEDYDPTV | 1 | Bos taurus | G34 | GEFLEGYDPTV | 1 | Mus musculus | G34 | GEFLKGYDPTV | 1 | Rattus norvegicus | G63 | LVDTAGQDEYS | 3 | Homo sapiens, Bos taurus, Mus musculus | G63 | LVDTAGQDKYS | 1 | Rattus norvegicus | K120 | VLVGNKADLSP | 2 | Homo sapiens, Bos taurus | K120 | LLVGNKADLSP | 1 | Mus musculus | K120 | LLVGNKADLSA | 1 | Rattus norvegicus | K19 | YRSVGKTSLAH | 2 | Mus musculus, Rattus norvegicus | K19 | YRCVGKTSLAH | 1 | Homo sapiens | K19 | LK--GKTSLAH | 1 | Bos taurus | L123 | GNKADLSPERE | 2 | Homo sapiens, Mus musculus | L123 | GNKADLSPDRE | 1 | Bos taurus | L123 | GNKADLSADRE | 1 | Rattus norvegicus | N119 | VVLVGNKADLS | 2 | Homo sapiens, Bos taurus | N119 | VLLVGNKADLS | 2 | Mus musculus, Rattus norvegicus | P37 | SEGYDPTVENT | 1 | Homo sapiens | P37 | LEDYDPTVENT | 1 | Bos taurus | P37 | LEGYDPTVENT | 1 | Mus musculus | P37 | LKGYDPTVENT | 1 | Rattus norvegicus | R15 | AILGYRSVGKT | 2 | Mus musculus, Rattus norvegicus | R15 | VILGYRCVGKT | 1 | Homo sapiens | R15 | VPLLLK--GKT | 1 | Bos taurus | R151 | MESSARENQLT | 1 | Homo sapiens | R151 | MESSARNNQLT | 1 | Bos taurus | R151 | MESSARDNQLT | 1 | Mus musculus | R151 | MESSARDNQLI | 1 | Rattus norvegicus | S149 | TFMESSARENQ | 1 | Homo sapiens | S149 | TFMESSARNNQ | 1 | Bos taurus | S149 | MFMESSARDNQ | 1 | Mus musculus | S149 | TFMESSARDNQ | 1 | Rattus norvegicus | S21 | SVGKTSLAHQF | 2 | Mus musculus, Rattus norvegicus | S21 | CVGKTSLAHQF | 1 | Homo sapiens | S21 | --GKTSLAHQF | 1 | Bos taurus | S32 | VEGEFSEGYDP | 1 | Homo sapiens | S32 | VEGEFLEDYDP | 1 | Bos taurus | S32 | VEGEFLEGYDP | 1 | Mus musculus | S32 | VEGEFLKGYDP | 1 | Rattus norvegicus | T20 | RSVGKTSLAHQ | 2 | Mus musculus, Rattus norvegicus | T20 | RCVGKTSLAHQ | 1 | Homo sapiens | T20 | K--GKTSLAHQ | 1 | Bos taurus | T38 | EGYDPTVENTY | 2 | Homo sapiens, Mus musculus | T38 | EDYDPTVENTY | 1 | Bos taurus | T38 | KGYDPTVENTY | 1 | Rattus norvegicus | V17 | LGYRSVGKTSL | 2 | Mus musculus, Rattus norvegicus | V17 | LGYRCVGKTSL | 1 | Homo sapiens | V17 | LLLK--GKTSL | 1 | Bos taurus | Y35 | EFSEGYDPTVE | 1 | Homo sapiens | Y35 | EFLEDYDPTVE | 1 | Bos taurus | Y35 | EFLEGYDPTVE | 1 | Mus musculus | Y35 | EFLKGYDPTVE | 1 | Rattus norvegicus |
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