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mutLBSgeneDB |
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| Gene summary for RBBP7 |
 Gene summary |
| Basic gene Info. | Gene symbol | RBBP7 |
| Gene name | retinoblastoma binding protein 7 | |
| Synonyms | RbAp46 | |
| Cytomap | UCSC genome browser: Xp22.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001198719.1, NM_002893.3, | |
| Description | G1/S transition control protein-binding protein RbAp46RBBP-7histone acetyltransferase type B subunit 2histone-binding protein RBBP7nucleosome-remodeling factor subunit RBAP46retinoblastoma-binding protein 7retinoblastoma-binding protein RbAp46retin | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 300825 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000102054 | ||
| HPRD : 04231 | ||
| Vega : OTTHUMG00000021198 | ||
| Protein | UniProt: Q16576 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RBBP7 | |
| BioGPS: 5931 | ||
| Pathway | NCI Pathway Interaction Database: RBBP7 | |
| KEGG: RBBP7 | ||
| REACTOME: RBBP7 | ||
| Pathway Commons: RBBP7 | ||
| Context | iHOP: RBBP7 | |
| ligand binding site mutation search in PubMed: RBBP7 | ||
| UCL Cancer Institute: RBBP7 | ||
| 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:0030308 | negative regulation of cell growth | 9765217 | GO:0070370 | cellular heat acclimation | 7503932 |
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| Ligand binding site mutations for RBBP7 |
| 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 | I368 | H369L | BLCA | 1 | N17 | V15I | COAD | 1 | F29 | P28L | UCEC | 1 | D9 | D9Y | 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 RBBP7 |
| 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 | N17 | V15I | -0.59246825 | D9 | D9Y | -0.37825396 | F29 | P28L | -0.18955764 | I368 | H369L | -0.10026499 |
| (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 RBBP7 from PDB |
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| Differential gene expression and gene-gene network for RBBP7 |
| 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 RBBP7 |
| 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 RBBP7 |
| 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 RBBP7 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (GLN,GLY,ILE,THR,LYS,PRO,ALA,ILE,ARG,ARG,LEU,ALA,ARG,ARG,GLY) | 3cfs | B | F29 I368 | III | Peptide ligand (ASP,ASN,ILE,GLN,GLY,ILE,THR,LYS,PRO,ALA,ILE,ARG,ARG,LEU,ALA,ARG,ARG,GLY) | 3cfv | B | F29 I368 | III | Peptide ligand (GLY,ILE,THR,LYS,PRO,ALA,ILE,ARG,ARG,LEU,ALA,ARG,ARG,GLY) | 3cfv | A | F29 I368 |
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| Conservation information for LBS of RBBP7 |
| Multiple alignments for Q16576 in multiple species |
| LBS | AA sequence | # species | Species | D357 | EQSAEDAEDGP | 7 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Gallus gallus, Xenopus tropicalis | D360 | AEDAEDGPPEL | 7 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Gallus gallus, Xenopus tropicalis | D9 | KEMFEDTVEER | 5 | Homo sapiens, Bos taurus, Rattus norvegicus, Mus musculus, Xenopus tropicalis | D9 | KEVYDDAVEER | 1 | Danio rerio | D9 | KEVLEDTVEER | 1 | Gallus gallus | E356 | EEQSAEDAEDG | 7 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Gallus gallus, Xenopus tropicalis | F29 | KKNTPFLYDLV | 7 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Gallus gallus, Xenopus tropicalis | F367 | PPELLFIHGGH | 7 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Gallus gallus, Xenopus tropicalis | G361 | EDAEDGPPELL | 7 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Gallus gallus, Xenopus tropicalis | I368 | PELLFIHGGHT | 7 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Gallus gallus, Xenopus tropicalis | I407 | QMAENIYNDEE | 7 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Gallus gallus, Xenopus tropicalis | L30 | KNTPFLYDLVM | 7 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Gallus gallus, Xenopus tropicalis | L365 | DGPPELLFIHG | 7 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Gallus gallus, Xenopus tropicalis | L366 | GPPELLFIHGG | 7 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Gallus gallus, Xenopus tropicalis | N17 | EERVINEEYKI | 6 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Xenopus tropicalis | N17 | EERVISEEYKI | 1 | Gallus gallus | N26 | KIWKKNTPFLY | 7 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Gallus gallus, Xenopus tropicalis | N406 | WQMAENIYNDE | 7 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Gallus gallus, Xenopus tropicalis | P362 | DAEDGPPELLF | 7 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Gallus gallus, Xenopus tropicalis | P363 | AEDGPPELLFI | 7 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Gallus gallus, Xenopus tropicalis | Q353 | KIGEEQSAEDA | 7 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Gallus gallus, Xenopus tropicalis | W23 | EEYKIWKKNTP | 7 | Homo sapiens, Danio rerio, Bos taurus, Rattus norvegicus, Mus musculus, Gallus gallus, Xenopus tropicalis |
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