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mutLBSgeneDB |
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| Gene summary for RRP8 |
 Gene summary |
| Basic gene Info. | Gene symbol | RRP8 |
| Gene name | ribosomal RNA processing 8, methyltransferase, homolog (yeast) | |
| Synonyms | KIAA0409|NML | |
| Cytomap | UCSC genome browser: 11p15.4 | |
| Type of gene | protein-coding | |
| RefGenes | NM_015324.3, | |
| Description | RRP8 methyltransferase homologcerebral protein 1nucleomethylinribosomal RNA-processing protein 8 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 615818 | |
| HGNC : HGNC | ||
| HPRD : 13800 | ||
| Protein | UniProt: O43159 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RRP8 | |
| BioGPS: 23378 | ||
| Pathway | NCI Pathway Interaction Database: RRP8 | |
| KEGG: RRP8 | ||
| REACTOME: RRP8 | ||
| Pathway Commons: RRP8 | ||
| Context | iHOP: RRP8 | |
| ligand binding site mutation search in PubMed: RRP8 | ||
| UCL Cancer Institute: RRP8 | ||
| 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:0000183 | chromatin silencing at rDNA | 18485871 |
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| Ligand binding site mutations for RRP8 |
| 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 | S263 | S264N | COAD | 1 | M367 | G368E | LUSC | 1 | G316 | F315S | STAD | 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 RRP8 |
| 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 | G316 | F315S | -1.0034845 | M367 | G368E | -0.59833389 | S263 | S264N | -0.36058873 |
| (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 RRP8 from PDB |
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| Differential gene expression and gene-gene network for RRP8 |
| 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 RRP8 |
| 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 RRP8 |
| 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 RRP8 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 2zfu | A | S263 G316 M367 | SAH | S-ADENOSYL-L-HOMOCYSTEINE | 2zfu | B | S263 G316 M367 |
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| Conservation information for LBS of RRP8 |
| Multiple alignments for O43159 in multiple species |
| LBS | AA sequence | # species | Species | C317 | VADFGCGDCRL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C317 | VADFGCGDARI | 1 | Arabidopsis thaliana | C345 | PRVTVCDMAQV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C345 | PSVIACDMSNT | 1 | Arabidopsis thaliana | C363 | DVAVFCLSLMG | 4 | Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus | D334 | PVHCFDLASLD | 2 | Homo sapiens, Mus musculus | D334 | KVFSFDLVSKN | 1 | Arabidopsis thaliana | D334 | PVHCFDLAALD | 1 | Rattus norvegicus | D346 | RVTVCDMAQVP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D346 | SVIACDMSNTS | 1 | Arabidopsis thaliana | F277 | EDPEAFLLYHR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F277 | EDPQMFDMYHT | 1 | Arabidopsis thaliana | F284 | LYHRGFQRQVK | 2 | Mus musculus, Rattus norvegicus | F284 | LYHRGFQSQVK | 1 | Homo sapiens | F284 | MYHTGYQQQMS | 1 | Arabidopsis thaliana | F374 | TNIRDFLEEAN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F374 | TNYSSYIKEAH | 1 | Arabidopsis thaliana | G316 | VVADFGCGDCR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G316 | VVADFGCGDAR | 1 | Arabidopsis thaliana | G318 | ADFGCGDCRLA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G318 | ADFGCGDARIA | 1 | Arabidopsis thaliana | H281 | AFLLYHRGFQR | 2 | Mus musculus, Rattus norvegicus | H281 | AFLLYHRGFQS | 1 | Homo sapiens | H281 | MFDMYHTGYQQ | 1 | Arabidopsis thaliana | L335 | VHCFDLASLDP | 2 | Homo sapiens, Mus musculus | L335 | VFSFDLVSKNP | 1 | Arabidopsis thaliana | L335 | VHCFDLAALDP | 1 | Rattus norvegicus | L364 | VAVFCLSLMGT | 4 | Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus | M347 | VTVCDMAQVPL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M347 | VIACDMSNTSL | 1 | Arabidopsis thaliana | M367 | FCLSLMGTNIR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | M367 | FCLSLMGTNYS | 1 | Arabidopsis thaliana | S263 | LYSGPSSAAQR | 1 | Homo sapiens | S263 | LYTCSGKEALD | 1 | Arabidopsis thaliana | S263 | LYSGPSSAARR | 1 | Mus musculus | S263 | LYSGPSSAAQC | 1 | Rattus norvegicus | S365 | AVFCLSLMGTN | 4 | Homo sapiens, Arabidopsis thaliana, Mus musculus, Rattus norvegicus | Y280 | EAFLLYHRGFQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y280 | QMFDMYHTGYQ | 1 | Arabidopsis thaliana |
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