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mutLBSgeneDB |
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| Gene summary for RFC1 |
 Gene summary |
| Basic gene Info. | Gene symbol | RFC1 |
| Gene name | replication factor C (activator 1) 1, 145kDa | |
| Synonyms | A1|MHCBFB|PO-GA|RECC1|RFC|RFC140 | |
| Cytomap | UCSC genome browser: 4p14-p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001204747.1, NM_002913.4, | |
| Description | A1 140 kDa subunitDNA-binding protein PO-GAMHC binding factor, betaRF-C 140 kDa subunitactivator 1 140 kDa subunitactivator 1 large subunitactivator 1 subunit 1replication factor C 140 kDa subunitreplication factor C large subunitreplication fact | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 102579 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000035928 | ||
| HPRD : 00024 | ||
| Vega : OTTHUMG00000099363 | ||
| Protein | UniProt: P35251 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RFC1 | |
| BioGPS: 5981 | ||
| Pathway | NCI Pathway Interaction Database: RFC1 | |
| KEGG: RFC1 | ||
| REACTOME: RFC1 | ||
| Pathway Commons: RFC1 | ||
| Context | iHOP: RFC1 | |
| ligand binding site mutation search in PubMed: RFC1 | ||
| UCL Cancer Institute: RFC1 | ||
| 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 |
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| Ligand binding site mutations for RFC1 |
| 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 | K375 | K374N | BLCA | 1 | R383 | R383Q | COAD | 1 | R452 | R452C | COAD | 1 | R452 | M450I | LUAD | 1 | R452 | R452L | LUAD | 1 | K375 | R376L | STAD | 1 | R423 | E425G | UCEC | 1 | V437 | V437L | 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 RFC1 |
| 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 | R423 | E425G | -1.3787195 | K375 | K374N | -1.37169 | R452 | R452C | -1.2174265 | R452 | R452L | -0.8385207 | R383 | R383Q | -0.70240773 | K375 | R376L | -0.6496663 | R452 | M450I | -0.48468503 | V437 | V437L | -0.27739982 |
| (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 RFC1 from PDB |
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| Differential gene expression and gene-gene network for RFC1 |
| 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 RFC1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0029463 | Osteosarcoma | 6 | Biomarker, GeneticVariation |
| umls:C0009375 | Colonic 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 RFC1 |
| 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 RFC1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 2k7f | A | K375 R383 R423 | NUC | Nucleic Acids | 2k7f | A | V437 R452 |
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| Conservation information for LBS of RFC1 |
| Multiple alignments for P35251 in multiple species |
| LBS | AA sequence | # species | Species | D453 | LVMGRDSGQSK | 2 | Homo sapiens, Mus musculus | D453 | LVVGEEAGPKK | 1 | Drosophila melanogaster | D453 | VVLGDEAGPKK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D453 | ILLGENAGPRK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G416 | IFVITGVLESI | 1 | Homo sapiens | G416 | TFVVTGVLESM | 1 | Drosophila melanogaster | G416 | TFVITGVLESI | 1 | Mus musculus | G416 | TIVFTGVLPTL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G416 | SFVITGILETL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G439 | GGKVTGNVSKK | 2 | Homo sapiens, Mus musculus | G439 | GGKVMTVVGKK | 1 | Drosophila melanogaster | G439 | GARVTKSISSK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G439 | GGKVTGAPSVR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G455 | MGRDSGQSKSD | 2 | Homo sapiens, Mus musculus | G455 | VGEEAGPKKLA | 1 | Drosophila melanogaster | G455 | LGDEAGPKKLE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G455 | LGENAGPRKVE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I414 | GLIFVITGVLE | 1 | Homo sapiens | I414 | GLTFVVTGVLE | 1 | Drosophila melanogaster | I414 | GLTFVITGVLE | 1 | Mus musculus | I414 | GLTIVFTGVLP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I414 | GISFVITGILE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K375 | EDSEKKRTNYQ | 2 | Homo sapiens, Mus musculus | K375 | ERHERKRASAV | 1 | Drosophila melanogaster | K375 | NVHVKENAKFD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K375 | ----------- | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K436 | ERYGGKVTGNV | 2 | Homo sapiens, Mus musculus | K436 | KEYGGKVMTVV | 1 | Drosophila melanogaster | K436 | KRYGARVTKSI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K436 | KQYGGKVTGAP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K458 | DSGQSKSDKAA | 2 | Homo sapiens, Mus musculus | K458 | EAGPKKLAVAE | 1 | Drosophila melanogaster | K458 | EAGPKKLEKIK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K458 | NAGPRKVETIK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L386 | AYRSYLNREGP | 2 | Homo sapiens, Mus musculus | L386 | LYQKYKNRSSC | 1 | Drosophila melanogaster | L386 | -FKSANSNADP | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L386 | ---FYERAATT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N440 | GKVTGNVSKKT | 2 | Homo sapiens, Mus musculus | N440 | GKVMTVVGKKL | 1 | Drosophila melanogaster | N440 | ARVTKSISSKT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | N440 | GKVTGAPSVRT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q456 | GRDSGQSKSDK | 2 | Homo sapiens, Mus musculus | Q456 | GEEAGPKKLAV | 1 | Drosophila melanogaster | Q456 | GDEAGPKKLEK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q456 | GENAGPRKVET | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R383 | NYQAYRSYLNR | 2 | Homo sapiens, Mus musculus | R383 | SAVLYQKYKNR | 1 | Drosophila melanogaster | R383 | KFD-FKSANSN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R383 | ------FYERA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R388 | RSYLNREGPKA | 2 | Homo sapiens, Mus musculus | R388 | QKYKNRSSCLN | 1 | Drosophila melanogaster | R388 | KSANSNADPDE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R388 | -FYERAATTQT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R423 | LESIERDEAKS | 2 | Homo sapiens, Mus musculus | R423 | LESMEREEAES | 1 | Drosophila melanogaster | R423 | LPTLERGASEA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R423 | LETLTRQEATD | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R452 | YLVMGRDSGQS | 2 | Homo sapiens, Mus musculus | R452 | YLVVGEEAGPK | 1 | Drosophila melanogaster | R452 | VVVLGDEAGPK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R452 | FILLGENAGPR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S454 | VMGRDSGQSKS | 2 | Homo sapiens, Mus musculus | S454 | VVGEEAGPKKL | 1 | Drosophila melanogaster | S454 | VLGDEAGPKKL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S454 | LLGENAGPRKV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S457 | RDSGQSKSDKA | 2 | Homo sapiens, Mus musculus | S457 | EEAGPKKLAVA | 1 | Drosophila melanogaster | S457 | DEAGPKKLEKI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S457 | ENAGPRKVETI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T415 | LIFVITGVLES | 1 | Homo sapiens | T415 | LTFVVTGVLES | 1 | Drosophila melanogaster | T415 | LTFVITGVLES | 1 | Mus musculus | T415 | LTIVFTGVLPT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T415 | ISFVITGILET | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | T438 | YGGKVTGNVSK | 2 | Homo sapiens, Mus musculus | T438 | YGGKVMTVVGK | 1 | Drosophila melanogaster | T438 | YGARVTKSISS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T438 | YGGKVTGAPSV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V437 | RYGGKVTGNVS | 2 | Homo sapiens, Mus musculus | V437 | EYGGKVMTVVG | 1 | Drosophila melanogaster | V437 | RYGARVTKSIS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V437 | QYGGKVTGAPS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y379 | KKRTNYQAYRS | 2 | Homo sapiens, Mus musculus | Y379 | RKRASAVLYQK | 1 | Drosophila melanogaster | Y379 | KENAKFD-FKS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y379 | ----------F | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y385 | QAYRSYLNREG | 2 | Homo sapiens, Mus musculus | Y385 | VLYQKYKNRSS | 1 | Drosophila melanogaster | Y385 | D-FKSANSNAD | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y385 | ----FYERAAT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) |
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