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mutLBSgeneDB |
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| Gene summary for CHFR |
 Gene summary |
| Basic gene Info. | Gene symbol | CHFR |
| Gene name | checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase | |
| Synonyms | RNF116|RNF196 | |
| Cytomap | UCSC genome browser: 12q24.33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001161344.1, NM_001161345.1,NM_001161346.1,NM_001161347.1,NM_018223.2, | |
| Description | E3 ubiquitin-protein ligase CHFRRING finger protein 196 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605209 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000072609 | ||
| Vega : OTTHUMG00000167930 | ||
| Protein | UniProt: Q96EP1 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_CHFR | |
| BioGPS: 55743 | ||
| Pathway | NCI Pathway Interaction Database: CHFR | |
| KEGG: CHFR | ||
| REACTOME: CHFR | ||
| Pathway Commons: CHFR | ||
| Context | iHOP: CHFR | |
| ligand binding site mutation search in PubMed: CHFR | ||
| UCL Cancer Institute: CHFR | ||
| 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:0000209 | protein polyubiquitination | 19182791 | GO:0019941 | modification-dependent protein catabolic process | 19182791 |
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| Ligand binding site mutations for CHFR |
| 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 | H655 | I656F | SKCM | 1 | R642 | R642H | 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 CHFR |
| 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 | R642 | R642H | -1.218401 | H655 | I656F | -0.88209738 |
| (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 CHFR from PDB |
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| Differential gene expression and gene-gene network for CHFR |
| 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 CHFR |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0038356 | Stomach Neoplasms | 3 | Biomarker, PostTranslationalModification |
| umls:C0007131 | Carcinoma, Non-Small-Cell Lung | 3 | Biomarker |
| umls:C0014170 | Endometrial Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for CHFR |
| 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 CHFR go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 2xoc | A | H655 | ZN | ZINC(2+) | 2xoc | B | H655 | ZN | ZINC(2+) | 2xoy | A | H655 | ZN | ZINC(2+) | 2xoy | B | H655 | ZN | ZINC(2+) | 2xoz | A | H655 | ZN | ZINC(2+) | 2xoz | B | H655 | ZN | ZINC(2+) | 2xp0 | A | H655 | ZN | ZINC(2+) | 2xp0 | B | H655 | ADE | ADENINE | 2xoc | B | R642 | AMP | AMP | 2xoy | B | R642 | AMP | AMP | 2xoz | B | R642 |
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| Conservation information for LBS of CHFR |
| Multiple alignments for Q96EP1 in multiple species |
| LBS | AA sequence | # species | Species | C428 | QPYVVCRQCPE | 1 | Homo sapiens | C428 | QPYMMCRQCPG | 1 | Danio rerio | C428 | QPYTVCRQCPG | 1 | Xenopus tropicalis | C428 | QPYIVCRQCPE | 1 | Mus musculus | C431 | VVCRQCPEYRR | 1 | Homo sapiens | C431 | MMCRQCPGYRK | 1 | Danio rerio | C431 | TVCRQCPGYVR | 1 | Xenopus tropicalis | C431 | IVCRQCPEYRR | 1 | Mus musculus | C476 | Q-DYVCPLQGS | 1 | Homo sapiens | C476 | PQEFRCPPQAS | 1 | Danio rerio | C476 | Q-EYVCPSHGS | 1 | Xenopus tropicalis | C476 | P-DYMCPLQGS | 1 | Mus musculus | C485 | GSHALCTCCFQ | 1 | Homo sapiens | C485 | ASHLICTCCLQ | 1 | Danio rerio | C485 | GSHVICTCCFQ | 1 | Xenopus tropicalis | C485 | GSHAICTCCFQ | 1 | Mus musculus | C488 | ALCTCCFQPMP | 1 | Homo sapiens | C488 | LICTCCLQPMP | 1 | Danio rerio | C488 | VICTCCFQPMP | 1 | Xenopus tropicalis | C488 | AICTCCFQPMP | 1 | Mus musculus | C518 | CLQPFCHLYWG | 2 | Homo sapiens, Mus musculus | C518 | CQKPFCHVYWG | 1 | Danio rerio | C518 | CLEPFCHMYWG | 1 | Xenopus tropicalis | C524 | HLYWGCTRTGC | 2 | Homo sapiens, Mus musculus | C524 | HVYWGCPRIGC | 1 | Danio rerio | C524 | HMYWGCNRMGC | 1 | Xenopus tropicalis | C635 | TSRPDCYWGRN | 2 | Homo sapiens, Mus musculus | C635 | TNRPNCYWGRN | 1 | Danio rerio | C635 | TSRPNCYWGRN | 1 | Xenopus tropicalis | C641 | YWGRNCRTQVK | 4 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus | D634 | VTSRPDCYWGR | 2 | Homo sapiens, Mus musculus | D634 | VTNRPNCYWGR | 1 | Danio rerio | D634 | VTSRPNCYWGR | 1 | Xenopus tropicalis | F653 | HHAMKFNHICE | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | F653 | HHALKFNHICE | 1 | Danio rerio | G58 | NKLVSGDHCRI | 1 | Homo sapiens | G58 | NKLVSGNHCKI | 1 | Danio rerio | G58 | NKLVSGEHCKI | 1 | Xenopus tropicalis | G58 | NKLVSGDHCKL | 1 | Mus musculus | H482 | PLQGSHALCTC | 1 | Homo sapiens | H482 | PPQASHLICTC | 1 | Danio rerio | H482 | PSHGSHVICTC | 1 | Xenopus tropicalis | H482 | PLQGSHAICTC | 1 | Mus musculus | H649 | QVKAHHAMKFN | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | H649 | QVKAHHALKFN | 1 | Danio rerio | H655 | AMKFNHICEQT | 3 | Homo sapiens, Xenopus tropicalis, Mus musculus | H655 | ALKFNHICEQT | 1 | Danio rerio | K109 | YLVYRKNEPEH | 2 | Homo sapiens, Mus musculus | K109 | YFVYRKNEPEQ | 1 | Danio rerio | K109 | YVVYRKNEPEQ | 1 | Xenopus tropicalis | N53 | LSFPSNKLVSG | 2 | Homo sapiens, Mus musculus | N53 | LSFPANKLVSG | 1 | Danio rerio | N53 | LSFPGNKLVSG | 1 | Xenopus tropicalis | N640 | CYWGRNCRTQV | 4 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus | P633 | AVTSRPDCYWG | 1 | Homo sapiens | P633 | AVTNRPNCYWG | 1 | Danio rerio | P633 | TVTSRPNCYWG | 1 | Xenopus tropicalis | P633 | TVTSRPDCYWG | 1 | Mus musculus | R42 | EWTIGRRRGCD | 2 | Homo sapiens, Mus musculus | R42 | ECTVGRKKDCD | 1 | Danio rerio | R42 | EWTIGRKKACD | 1 | Xenopus tropicalis | R43 | WTIGRRRGCDL | 2 | Homo sapiens, Mus musculus | R43 | CTVGRKKDCDL | 1 | Danio rerio | R43 | WTIGRKKACDL | 1 | Xenopus tropicalis | R642 | WGRNCRTQVKA | 4 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus | R661 | ICEQTRFKN | 4 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus | S57 | SNKLVSGDHCR | 1 | Homo sapiens | S57 | ANKLVSGNHCK | 1 | Danio rerio | S57 | GNKLVSGEHCK | 1 | Xenopus tropicalis | S57 | SNKLVSGDHCK | 1 | Mus musculus | T643 | GRNCRTQVKAH | 4 | Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus | T79 | LEDTSTNGTVI | 2 | Xenopus tropicalis, Mus musculus | T79 | LEDTSTSGTVI | 1 | Homo sapiens | T79 | LEDMSTNGTVI | 1 | Danio rerio | W637 | RPDCYWGRNCR | 2 | Homo sapiens, Mus musculus | W637 | RPNCYWGRNCR | 2 | Danio rerio, Xenopus tropicalis | Y636 | SRPDCYWGRNC | 2 | Homo sapiens, Mus musculus | Y636 | NRPNCYWGRNC | 1 | Danio rerio | Y636 | SRPNCYWGRNC | 1 | Xenopus tropicalis |
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