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mutLBSgeneDB |
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| Gene summary for BRF2 |
 Gene summary |
| Basic gene Info. | Gene symbol | BRF2 |
| Gene name | BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit | |
| Synonyms | BRFU|TFIIIB50 | |
| Cytomap | UCSC genome browser: 8p11.23 | |
| Type of gene | protein-coding | |
| RefGenes | NM_018310.3, | |
| Description | B-related factor 2BRF-2BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-likeRNA polymerase III transcription initiation factor BRFUhBRFUhTFIIIB50transcription factor IIB- related factor, TFIIIB50transcription factor IIIB 50 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 607013 | |
| HGNC : HGNC | ||
| HPRD : 06115 | ||
| Protein | UniProt: Q9HAW0 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_BRF2 | |
| BioGPS: 55290 | ||
| Pathway | NCI Pathway Interaction Database: BRF2 | |
| KEGG: BRF2 | ||
| REACTOME: BRF2 | ||
| Pathway Commons: BRF2 | ||
| Context | iHOP: BRF2 | |
| ligand binding site mutation search in PubMed: BRF2 | ||
| UCL Cancer Institute: BRF2 | ||
| 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 BRF2 |
| 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 | P261 | P261S | BLCA | 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 BRF2 |
| 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 | P261 | P261S | -1.0818133 |
| (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 BRF2 from PDB |
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| Differential gene expression and gene-gene network for BRF2 |
| 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 BRF2 |
| 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 BRF2 |
| 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 BRF2 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4roc | A | P261 | NUC | Nucleic Acids | 4rod | A | P261 | NUC | Nucleic Acids | 4roe | A | P261 |
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| Conservation information for LBS of BRF2 |
| Multiple alignments for Q9HAW0 in multiple species |
| LBS | AA sequence | # species | Species | A108 | LSGIRAARLQK | 2 | Mus musculus, Rattus norvegicus | A108 | HSGIRAARLQK | 1 | Homo sapiens | A108 | HPNFLHISLSK | 1 | Danio rerio | A108 | HPLYHSVSIEK | 1 | Xenopus tropicalis | A108 | LAGIRTARLQK | 1 | Bos taurus | A109 | SGIRAARLQKK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A109 | PNFLHISLSKK | 1 | Danio rerio | A109 | PLYHSVSIEKK | 1 | Xenopus tropicalis | A109 | AGIRTARLQKK | 1 | Bos taurus | C361 | LLLPPCM-LKP | 2 | Rattus norvegicus, Bos taurus | C361 | LLLPPCM-LKS | 1 | Homo sapiens | C361 | LFLPPCVRTQK | 1 | Danio rerio | C361 | VFLPPCV-SNP | 1 | Xenopus tropicalis | C361 | PLLPPCM-LKP | 1 | Mus musculus | D147 | LYADLDVFSST | 2 | Homo sapiens, Rattus norvegicus | D147 | LDADNYQMGTI | 1 | Danio rerio | D147 | VYAKKELFASI | 1 | Xenopus tropicalis | D147 | LYADLDLFSGT | 1 | Mus musculus | D147 | LYADLDVFSGT | 1 | Bos taurus | G105 | AYQLSGIRAAR | 2 | Mus musculus, Rattus norvegicus | G105 | AYRHSGIRAAR | 1 | Homo sapiens | G105 | AYNHPNFLHIS | 1 | Danio rerio | G105 | AYKHPLYHSVS | 1 | Xenopus tropicalis | G105 | AHQLAGIRTAR | 1 | Bos taurus | G219 | TWLVTGRHPLP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | G219 | TWILTGRRPFP | 1 | Danio rerio | G219 | TWLVTGRHPIP | 1 | Xenopus tropicalis | H221 | LVTGRHPLPVI | 2 | Homo sapiens, Bos taurus | H221 | LVTGRHPLPII | 2 | Mus musculus, Rattus norvegicus | H221 | ILTGRRPFPLF | 1 | Danio rerio | H221 | LVTGRHPIPII | 1 | Xenopus tropicalis | K113 | AARLQKKEVLV | 2 | Homo sapiens, Mus musculus | K113 | HISLSKKQILA | 1 | Danio rerio | K113 | SVSIEKKEIIV | 1 | Xenopus tropicalis | K113 | AARLQKKEVVV | 1 | Rattus norvegicus | K113 | TARLQKKEVLA | 1 | Bos taurus | K114 | ARLQKKEVLVG | 2 | Homo sapiens, Mus musculus | K114 | ISLSKKQILAG | 1 | Danio rerio | K114 | VSIEKKEIIVG | 1 | Xenopus tropicalis | K114 | ARLQKKEVVVG | 1 | Rattus norvegicus | K114 | ARLQKKEVLAG | 1 | Bos taurus | L111 | IRAARLQKKEV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L111 | FLHISLSKKQI | 1 | Danio rerio | L111 | YHSVSIEKKEI | 1 | Xenopus tropicalis | L111 | IRTARLQKKEV | 1 | Bos taurus | M154 | FSSTYMQIVKL | 2 | Homo sapiens, Rattus norvegicus | M154 | MGTIYQELTKS | 1 | Danio rerio | M154 | FASIFLSIVQV | 1 | Xenopus tropicalis | M154 | FSGTYMQMVKL | 1 | Mus musculus | M154 | FSGTYMQIVKL | 1 | Bos taurus | P261 | VDLPYPASS-- | 2 | Homo sapiens, Bos taurus | P261 | VDLPYPAAS-- | 2 | Mus musculus, Rattus norvegicus | P261 | APEQLWCKSKD | 1 | Danio rerio | P261 | VDLPPPSAI-- | 1 | Xenopus tropicalis | R107 | QLSGIRAARLQ | 2 | Mus musculus, Rattus norvegicus | R107 | RHSGIRAARLQ | 1 | Homo sapiens | R107 | NHPNFLHISLS | 1 | Danio rerio | R107 | KHPLYHSVSIE | 1 | Xenopus tropicalis | R107 | QLAGIRTARLQ | 1 | Bos taurus | R110 | GIRAARLQKKE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R110 | NFLHISLSKKQ | 1 | Danio rerio | R110 | LYHSVSIEKKE | 1 | Xenopus tropicalis | R110 | GIRTARLQKKE | 1 | Bos taurus | R220 | WLVTGRHPLPV | 2 | Homo sapiens, Bos taurus | R220 | WLVTGRHPLPI | 2 | Mus musculus, Rattus norvegicus | R220 | WILTGRRPFPL | 1 | Danio rerio | R220 | WLVTGRHPIPI | 1 | Xenopus tropicalis | R265 | -----RLQELL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R265 | DTINKRLNELL | 1 | Danio rerio | R265 | -----RLRELQ | 1 | Xenopus tropicalis | S150 | DLDVFSSTYMQ | 2 | Homo sapiens, Rattus norvegicus | S150 | DNYQMGTIYQE | 1 | Danio rerio | S150 | KKELFASIFLS | 1 | Xenopus tropicalis | S150 | DLDLFSGTYMQ | 1 | Mus musculus | S150 | DLDVFSGTYMQ | 1 | Bos taurus | S246 | DRLTCSLARFC | 2 | Rattus norvegicus, Bos taurus | S246 | DRLSCSLARFC | 1 | Homo sapiens | S246 | ARMKYSLMKFC | 1 | Danio rerio | S246 | RRLSCSLSRFC | 1 | Xenopus tropicalis | S246 | DRLTCSLAQFC | 1 | Mus musculus | S66 | ENEQVSRSQQR | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | S66 | AFKKPCRNLVS | 1 | Danio rerio | S66 | ENDSMTVSKLR | 1 | Xenopus tropicalis | S66 | ENEQVSRCQQR | 1 | Mus musculus | S68 | EQVSRSQQRGL | 2 | Homo sapiens, Bos taurus | S68 | KKPCRNLVSGF | 1 | Danio rerio | S68 | DSMTVSKLRGI | 1 | Xenopus tropicalis | S68 | EQVSRCQQRDL | 1 | Mus musculus | S68 | EQVSRSQQRDL | 1 | Rattus norvegicus | Y260 | NVDLPYPASS- | 2 | Homo sapiens, Bos taurus | Y260 | NVDLPYPAAS- | 2 | Mus musculus, Rattus norvegicus | Y260 | KAPEQLWCKSK | 1 | Danio rerio | Y260 | DVDLPPPSAI- | 1 | Xenopus tropicalis |
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