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mutLBSgeneDB |
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| Gene summary for RNF8 |
 Gene summary |
| Basic gene Info. | Gene symbol | RNF8 |
| Gene name | ring finger protein 8, E3 ubiquitin protein ligase | |
| Synonyms | hRNF8 | |
| Cytomap | UCSC genome browser: 6p21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003958.3, NM_183078.2,NR_046399.1, | |
| Description | C3HC4-type zinc finger proteinE3 ubiquitin-protein ligase RNF8UBC13/UEV-interacting ring finger proteinring finger protein (C3HC4 type) 8 | |
| Modification date | 20141215 | |
| dbXrefs | MIM : 611685 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000112130 | ||
| HPRD : 11521 | ||
| Vega : OTTHUMG00000014620 | ||
| Protein | UniProt: O76064 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RNF8 | |
| BioGPS: 9025 | ||
| Pathway | NCI Pathway Interaction Database: RNF8 | |
| KEGG: RNF8 | ||
| REACTOME: RNF8 | ||
| Pathway Commons: RNF8 | ||
| Context | iHOP: RNF8 | |
| ligand binding site mutation search in PubMed: RNF8 | ||
| UCL Cancer Institute: RNF8 | ||
| 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:0006302 | double-strand break repair | 18001824 | GO:0006511 | ubiquitin-dependent protein catabolic process | 22266820 | GO:0006974 | cellular response to DNA damage stimulus | 20550933 | GO:0010212 | response to ionizing radiation | 18001824 | GO:0033522 | histone H2A ubiquitination | 18001824 | GO:0045739 | positive regulation of DNA repair | 18001824 | GO:0051865 | protein autoubiquitination | 22266820 | GO:0070534 | protein K63-linked ubiquitination | 21911360 | GO:0070535 | histone H2A K63-linked ubiquitination | 22980979 | GO:0070936 | protein K48-linked ubiquitination | 21911360 |
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| Ligand binding site mutations for RNF8 |
| 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 | L82 | K80N | BLCA | 1 | S60 | S60P | KIRC | 1 | N83 | N83I | LUAD | 1 | I405 | I405S | 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 RNF8 |
| 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 | I405 | I405S | -1.3987754 | S60 | S60P | -0.84100633 | L82 | K80N | -0.73309283 | N83 | N83I | -0.41657496 |
| (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 RNF8 from PDB |
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| Differential gene expression and gene-gene network for RNF8 |
| 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 RNF8 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0004352 | Autistic Disorder | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for RNF8 |
| 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 RNF8 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CPQ | N,N-BIS[3-(D-GLUCONAMIDO)PROPYL]DEOXYCHOLAMIDE | 4ayc | A | I405 | III | Peptide ligand (GLU,LEU,LYS,THR,GLU,ARG,TYR) | 2pie | A | S60 L82 N83 |
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| Conservation information for LBS of RNF8 |
| Multiple alignments for O76064 in multiple species |
| LBS | AA sequence | # species | Species | C403 | ENELQCIICSE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | C403 | ESELQCSICSE | 1 | Danio rerio | C406 | LQCIICSEYFI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | C406 | LQCSICSELFI | 1 | Danio rerio | C406 | LQCIICSEYFV | 1 | Bos taurus | C418 | AVTLNCAHSFC | 5 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus, Bos taurus | C423 | CAHSFCSYCIN | 2 | Homo sapiens, Bos taurus | C423 | CAHSFCQHCIS | 1 | Danio rerio | C423 | CAHSFCSFCIN | 1 | Mus musculus | C423 | CAHSFCSFCIS | 1 | Rattus norvegicus | C426 | SFCSYCINEWM | 2 | Homo sapiens, Bos taurus | C426 | SFCQHCISEWR | 1 | Danio rerio | C426 | SFCSFCINEWM | 1 | Mus musculus | C426 | SFCSFCISEWM | 1 | Rattus norvegicus | C437 | KRKVECPICRK | 3 | Mus musculus, Rattus norvegicus, Bos taurus | C437 | KRKIECPICRK | 1 | Homo sapiens | C437 | NRKDKCPMCWQ | 1 | Danio rerio | C440 | VECPICRKDIE | 2 | Mus musculus, Rattus norvegicus | C440 | IECPICRKDIK | 1 | Homo sapiens | C440 | DKCPMCWQNIT | 1 | Danio rerio | C440 | VECPICRKDIK | 1 | Bos taurus | C55 | LVSKICPLMIS | 2 | Homo sapiens, Bos taurus | C55 | LISKVCPLMIS | 2 | Mus musculus, Rattus norvegicus | C55 | ILSSSCPLMIS | 1 | Danio rerio | E429 | SYCINEWMKRK | 2 | Homo sapiens, Bos taurus | E429 | QHCISEWRNRK | 1 | Danio rerio | E429 | SFCINEWMKRK | 1 | Mus musculus | E429 | SFCISEWMKRK | 1 | Rattus norvegicus | H420 | TLNCAHSFCSY | 2 | Homo sapiens, Bos taurus | H420 | TLNCAHSFCSF | 2 | Mus musculus, Rattus norvegicus | H420 | TLNCAHSFCQH | 1 | Danio rerio | I405 | ELQCIICSEYF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | I405 | ELQCSICSELF | 1 | Danio rerio | K432 | INEWMKRKVEC | 2 | Mus musculus, Bos taurus | K432 | INEWMKRKIEC | 1 | Homo sapiens | K432 | ISEWRNRKDKC | 1 | Danio rerio | K432 | ISEWMKRKVEC | 1 | Rattus norvegicus | K434 | EWMKRKVECPI | 3 | Mus musculus, Rattus norvegicus, Bos taurus | K434 | EWMKRKIECPI | 1 | Homo sapiens | K434 | EWRNRKDKCPM | 1 | Danio rerio | L57 | SKICPLMISRN | 2 | Homo sapiens, Bos taurus | L57 | SSSCPLMISRI | 1 | Danio rerio | L57 | SKVCPLMISRS | 1 | Mus musculus | L57 | SKVCPLMISRN | 1 | Rattus norvegicus | L82 | MDNKSLNGVWL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L82 | TDNKSLNGVWV | 1 | Danio rerio | L82 | KDNKSLNGVWL | 1 | Bos taurus | M58 | KICPLMISRNH | 2 | Homo sapiens, Bos taurus | M58 | SSCPLMISRIH | 1 | Danio rerio | M58 | KVCPLMISRSH | 1 | Mus musculus | M58 | KVCPLMISRNH | 1 | Rattus norvegicus | N83 | DNKSLNGVWLN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N83 | DNKSLNGVWVN | 1 | Danio rerio | R42 | EVTVGRGFGVT | 2 | Homo sapiens, Bos taurus | R42 | EVSVGRGLNVT | 1 | Danio rerio | R42 | EVTIGRGLSVT | 1 | Mus musculus | R42 | EVTIGRGFSVT | 1 | Rattus norvegicus | R433 | NEWMKRKVECP | 2 | Mus musculus, Bos taurus | R433 | NEWMKRKIECP | 1 | Homo sapiens | R433 | SEWRNRKDKCP | 1 | Danio rerio | R433 | SEWMKRKVECP | 1 | Rattus norvegicus | R61 | PLMISRNHCVL | 2 | Homo sapiens, Rattus norvegicus | R61 | PLMISRIHCVF | 1 | Danio rerio | R61 | PLMISRSHCVL | 1 | Mus musculus | R61 | PLMISRNHCIL | 1 | Bos taurus | S60 | CPLMISRNHCV | 2 | Homo sapiens, Rattus norvegicus | S60 | CPLMISRIHCV | 1 | Danio rerio | S60 | CPLMISRSHCV | 1 | Mus musculus | S60 | CPLMISRNHCI | 1 | Bos taurus | V110 | YIQLGVPLENK | 1 | Homo sapiens | V110 | SVRLGVPLDGN | 1 | Danio rerio | V110 | HIQLGVPLESR | 1 | Mus musculus | V110 | HIQLGVPLESK | 1 | Rattus norvegicus | V110 | HIQLGVPLENK | 1 | Bos taurus | W430 | YCINEWMKRKI | 1 | Homo sapiens | W430 | HCISEWRNRKD | 1 | Danio rerio | W430 | FCINEWMKRKV | 1 | Mus musculus | W430 | FCISEWMKRKV | 1 | Rattus norvegicus | W430 | YCINEWMKRKV | 1 | Bos taurus |
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