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mutLBSgeneDB |
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| Gene summary for RBFOX1 |
 Gene summary |
| Basic gene Info. | Gene symbol | RBFOX1 |
| Gene name | RNA binding protein, fox-1 homolog (C. elegans) 1 | |
| Synonyms | 2BP1|A2BP1|FOX-1|FOX1|HRNBP1 | |
| Cytomap | UCSC genome browser: 16p13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001142333.1, NM_001142334.1,NM_018723.3,NM_145891.2,NM_145892.2, NM_145893.2, | |
| Description | RNA binding protein fox-1 homolog 1ataxin 2-binding protein 1fox-1 homolog Afox-1-like RNA-binding protein 1hexaribonucleotide-binding protein 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605104 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000078328 | ||
| HPRD : 16091 | ||
| Vega : OTTHUMG00000129551 | ||
| Protein | UniProt: Q9NWB1 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RBFOX1 | |
| BioGPS: 54715 | ||
| Pathway | NCI Pathway Interaction Database: RBFOX1 | |
| KEGG: RBFOX1 | ||
| REACTOME: RBFOX1 | ||
| Pathway Commons: RBFOX1 | ||
| Context | iHOP: RBFOX1 | |
| ligand binding site mutation search in PubMed: RBFOX1 | ||
| UCL Cancer Institute: RBFOX1 | ||
| 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 RBFOX1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R118 | R118W | BRCA | 1 | T192 | T192I | KIRC | 1 | R184 | R184L | LUAD | 1 | N151 | N151S | LUAD | 1 | G154 | G154S | LUAD | 1 | F160 | V161I | LUAD | 1 | I124,F126 | P125S | SKCM | 1 | R184 | R184C | STAD | 1 | F160 | V161I | STAD | 1 | T192 | T192A | 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 RBFOX1 |
| 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 | T192 | T192A | -1.2970231 | F126 | P125S | -1.2386666 | I124 | P125S | -1.2386666 | R118 | R118W | -1.1942439 | R184 | R184C | -1.0456257 | T192 | T192I | -0.75069413 | G154 | G154S | -0.7338176 | R184 | R184L | -0.69283131 | F160 | V161I | -0.45482551 | N151 | N151S | -0.34783287 |
| (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 RBFOX1 from PDB |
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| Differential gene expression and gene-gene network for RBFOX1 |
| 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 RBFOX1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0004352 | Autistic Disorder | 5 | Biomarker |
| umls:C0036572 | Seizures | 2 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for RBFOX1 |
| 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 RBFOX1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 2err | A | R118 I124 F126 N151 G154 F160 R184 T192 |
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| Conservation information for LBS of RBFOX1 |
| Multiple alignments for Q9NWB1 in multiple species |
| LBS | AA sequence | # species | Species | A191 | IEVNNATARVM | 3 | Homo sapiens, Danio rerio, Mus musculus | A193 | VNNATARVMTN | 3 | Homo sapiens, Danio rerio, Mus musculus | E147 | KILDVEIIFNE | 3 | Homo sapiens, Danio rerio, Mus musculus | F126 | VSNIPFRFRDP | 3 | Homo sapiens, Danio rerio, Mus musculus | F150 | DVEIIFNERGS | 3 | Homo sapiens, Danio rerio, Mus musculus | F158 | RGSKGFGFVTF | 3 | Homo sapiens, Danio rerio, Mus musculus | F160 | SKGFGFVTFEN | 2 | Homo sapiens, Mus musculus | F160 | SKGFGFVTFES | 1 | Danio rerio | G154 | IFNERGSKGFG | 3 | Homo sapiens, Danio rerio, Mus musculus | G157 | ERGSKGFGFVT | 3 | Homo sapiens, Danio rerio, Mus musculus | H120 | QPKRLHVSNIP | 3 | Homo sapiens, Danio rerio, Mus musculus | I124 | LHVSNIPFRFR | 3 | Homo sapiens, Danio rerio, Mus musculus | I148 | ILDVEIIFNER | 3 | Homo sapiens, Danio rerio, Mus musculus | I149 | LDVEIIFNERG | 3 | Homo sapiens, Danio rerio, Mus musculus | K156 | NERGSKGFGFV | 3 | Homo sapiens, Danio rerio, Mus musculus | M1 | 3 | Homo sapiens, Danio rerio, Mus musculus | N123 | RLHVSNIPFRF | 3 | Homo sapiens, Danio rerio, Mus musculus | N151 | VEIIFNERGSK | 3 | Homo sapiens, Danio rerio, Mus musculus | N189 | RKIEVNNATAR | 3 | Homo sapiens, Danio rerio, Mus musculus | N190 | KIEVNNATARV | 3 | Homo sapiens, Danio rerio, Mus musculus | R118 | KSQPKRLHVSN | 2 | Homo sapiens, Mus musculus | R118 | KTQPKRLHVSN | 1 | Danio rerio | R153 | IIFNERGSKGF | 3 | Homo sapiens, Danio rerio, Mus musculus | R184 | TVVEGRKIEVN | 3 | Homo sapiens, Danio rerio, Mus musculus | R194 | NNATARVMTNK | 3 | Homo sapiens, Danio rerio, Mus musculus | S122 | KRLHVSNIPFR | 3 | Homo sapiens, Danio rerio, Mus musculus | T192 | EVNNATARVMT | 3 | Homo sapiens, Danio rerio, Mus musculus |
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