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mutLBSgeneDB |
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| Gene summary for RBL1 |
 Gene summary |
| Basic gene Info. | Gene symbol | RBL1 |
| Gene name | retinoblastoma-like 1 | |
| Synonyms | CP107|PRB1|p107 | |
| Cytomap | UCSC genome browser: 20q11.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002895.3, NM_183404.2, | |
| Description | 107 kDa retinoblastoma-associated proteincellular protein 107retinoblastoma-like 1 (p107)retinoblastoma-like protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 116957 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000080839 | ||
| HPRD : 00312 | ||
| Vega : OTTHUMG00000032406 | ||
| Protein | UniProt: P28749 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RBL1 | |
| BioGPS: 5933 | ||
| Pathway | NCI Pathway Interaction Database: RBL1 | |
| KEGG: RBL1 | ||
| REACTOME: RBL1 | ||
| Pathway Commons: RBL1 | ||
| Context | iHOP: RBL1 | |
| ligand binding site mutation search in PubMed: RBL1 | ||
| UCL Cancer Institute: RBL1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0043550 | regulation of lipid kinase activity | 16286473 |
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| Ligand binding site mutations for RBL1 |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R880 | R880I | COAD | 1 | L947 | Y949C | COAD | 1 | T860 | R859I | UCEC | 1 | D929 | G928C | 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 RBL1 |
| 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 | T860 | R859I | -0.65258866 | L947 | Y949C | -0.37308847 | R880 | R880I | -0.34801006 | D929 | G928C | -0.2641393 |
| (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 RBL1 from PDB |
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| Differential gene expression and gene-gene network for RBL1 |
| 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 RBL1 |
| 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 RBL1 |
| 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 RBL1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ALA,SER,LEU,LEU,SER,PHE,GLU,LYS,LEU,ASP,ARG,ALA,SEP,ALA,ASP,LEU,TRP,PRO) | 4yoo | A | R880 L947 | III | Peptide ligand (ASP,LEU,TYR,CYS,TYR,GLU,GLN,LEU,ASN) | 4yoz | A | T860 D929 |
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| Conservation information for LBS of RBL1 |
| Multiple alignments for P28749 in multiple species |
| LBS | AA sequence | # species | Species | D929 | KEERGDLIKFY | 2 | Homo sapiens, Mus musculus | D929 | GPDHVDIITFY | 1 | Arabidopsis thaliana | D929 | GSRHVDIIVFY | 1 | Oryza sativa subsp. japonica | E863 | ERTFQEIMKSY | 2 | Homo sapiens, Mus musculus | E863 | SLTFREIIYNY | 1 | Arabidopsis thaliana | E863 | SLTFKEIVNNY | 1 | Oryza sativa subsp. japonica | F861 | KEERTFQEIMK | 2 | Homo sapiens, Mus musculus | F861 | QMSLTFREIIY | 1 | Arabidopsis thaliana | F861 | QLSLTFKEIVN | 1 | Oryza sativa subsp. japonica | I931 | ERGDLIKFYNT | 2 | Homo sapiens, Mus musculus | I931 | DHVDIITFYNE | 1 | Arabidopsis thaliana | I931 | RHVDIIVFYNQ | 1 | Oryza sativa subsp. japonica | K853 | FYIMAKVTKEE | 2 | Homo sapiens, Mus musculus | K853 | FYGVAKISQMS | 1 | Arabidopsis thaliana | K853 | LYGVAKVSQLS | 1 | Oryza sativa subsp. japonica | K866 | FQEIMKSYRNQ | 2 | Homo sapiens, Mus musculus | K866 | FREIIYNYRKQ | 1 | Arabidopsis thaliana | K866 | FKEIVNNYKRE | 1 | Oryza sativa subsp. japonica | L947 | VKSFALKYDL- | 2 | Homo sapiens, Mus musculus | L947 | VKPLLVELGPV | 1 | Arabidopsis thaliana | L947 | VKPLLVALMP- | 1 | Oryza sativa subsp. japonica | M865 | TFQEIMKSYRN | 2 | Homo sapiens, Mus musculus | M865 | TFREIIYNYRK | 1 | Arabidopsis thaliana | M865 | TFKEIVNNYKR | 1 | Oryza sativa subsp. japonica | N935 | LIKFYNTIYVG | 1 | Homo sapiens | N935 | LIKFYNTVYVG | 1 | Mus musculus | N935 | IITFYNEIFIP | 1 | Arabidopsis thaliana | N935 | IIVFYNQVFVP | 1 | Oryza sativa subsp. japonica | Q862 | EERTFQEIMKS | 2 | Homo sapiens, Mus musculus | Q862 | MSLTFREIIYN | 1 | Arabidopsis thaliana | Q862 | LSLTFKEIVNN | 1 | Oryza sativa subsp. japonica | R869 | IMKSYRNQPQA | 2 | Homo sapiens, Mus musculus | R869 | IIYNYRKQPQC | 1 | Arabidopsis thaliana | R869 | IVNNYKREPQC | 1 | Oryza sativa subsp. japonica | R880 | NSHVYRSVLLK | 2 | Homo sapiens, Mus musculus | R880 | KPLVFRSVYVD | 1 | Arabidopsis thaliana | R880 | KPEVFRSIFVG | 1 | Oryza sativa subsp. japonica | S876 | QPQANSHVYRS | 2 | Homo sapiens, Mus musculus | S876 | QPQCKPLVFRS | 1 | Arabidopsis thaliana | S876 | EPQCKPEVFRS | 1 | Oryza sativa subsp. japonica | T860 | TKEERTFQEIM | 2 | Homo sapiens, Mus musculus | T860 | SQMSLTFREII | 1 | Arabidopsis thaliana | T860 | SQLSLTFKEIV | 1 | Oryza sativa subsp. japonica | V854 | YIMAKVTKEER | 2 | Homo sapiens, Mus musculus | V854 | YGVAKISQMSL | 1 | Arabidopsis thaliana | V854 | YGVAKVSQLSL | 1 | Oryza sativa subsp. japonica | V939 | YNTIYVGRVKS | 1 | Homo sapiens | V939 | YNTVYVGRVKS | 1 | Mus musculus | V939 | YNEIFIPAVKP | 1 | Arabidopsis thaliana | V939 | YNQVFVPTVKP | 1 | Oryza sativa subsp. japonica | Y849 | LLCAFYIMAKV | 2 | Homo sapiens, Mus musculus | Y849 | ILCCFYGVAKI | 1 | Arabidopsis thaliana | Y849 | ILCCLYGVAKV | 1 | Oryza sativa subsp. japonica | Y879 | ANSHVYRSVLL | 2 | Homo sapiens, Mus musculus | Y879 | CKPLVFRSVYV | 1 | Arabidopsis thaliana | Y879 | CKPEVFRSIFV | 1 | Oryza sativa subsp. japonica | Y934 | DLIKFYNTIYV | 1 | Homo sapiens | Y934 | DLIKFYNTVYV | 1 | Mus musculus | Y934 | DIITFYNEIFI | 1 | Arabidopsis thaliana | Y934 | DIIVFYNQVFV | 1 | Oryza sativa subsp. japonica |
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