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mutLBSgeneDB |
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| Gene summary for FOLR1 |
 Gene summary |
| Basic gene Info. | Gene symbol | FOLR1 |
| Gene name | folate receptor 1 (adult) | |
| Synonyms | FBP|FOLR | |
| Cytomap | UCSC genome browser: 11q13.3-q14.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000802.3, NM_016724.2,NM_016725.2,NM_016729.2,NM_016730.1, | |
| Description | FR-alphaKB cells FBPadult folate-binding proteinfolate binding proteinfolate receptor alphafolate receptor, adultovarian tumor-associated antigen MOv18 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 136430 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000110195 | ||
| HPRD : 00638 | ||
| Vega : OTTHUMG00000167876 | ||
| Protein | UniProt: P15328 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FOLR1 | |
| BioGPS: 2348 | ||
| Pathway | NCI Pathway Interaction Database: FOLR1 | |
| KEGG: FOLR1 | ||
| REACTOME: FOLR1 | ||
| Pathway Commons: FOLR1 | ||
| Context | iHOP: FOLR1 | |
| ligand binding site mutation search in PubMed: FOLR1 | ||
| UCL Cancer Institute: FOLR1 | ||
| 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 FOLR1 |
| 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 | N222 | E223V | BRCA | 1 | R125 | R125C | COAD | 1 | R125 | R125H | GBM | 1 | W193 | E191K | OV | 1 | N222 | E223K | SKCM | 1 | R128 | L130M | 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 FOLR1 |
| 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 | R125 | R125H | -1.585607 | R125 | R125C | -1.3439263 | R128 | L130M | -1.0428405 | W193 | E191K | -1.0230072 | N222 | E223K | -0.81356647 | N222 | E223V | -0.57688837 |
| (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 FOLR1 from PDB |
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| Differential gene expression and gene-gene network for FOLR1 |
| 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 FOLR1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0919267 | Ovarian Neoplasms | 3 | Biomarker, Therapeutic |
| umls:C0018798 | Heart Defects, Congenital | 2 | Biomarker, GeneticVariation |
| umls:C0000768 | Congenital Abnormalities | 2 | Biomarker |
| umls:C0009375 | Colonic Neoplasms | 2 | Biomarker |
| umls:C0029463 | Osteosarcoma | 1 | Biomarker |
| umls:C0752109 | Brain Diseases, Metabolic, Inborn | 1 | Biomarker |
| umls:C0376634 | Craniofacial Abnormalities | 1 | Biomarker |
| umls:C0014544 | Epilepsy | 1 | Biomarker |
| umls:C3714756 | Intellectual Disability | 1 | Biomarker |
| umls:C0026650 | Movement Disorders | 1 | Biomarker |
| umls:C0027794 | Neural Tube Defects | 1 | Biomarker |
| umls:C0033922 | Psychomotor Disorders | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for FOLR1 |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Investigational | DB05168 | EC145 | Small molecule |  |
| Investigational | DB05595 | Farletuzumab | Biotech |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of FOLR1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CA | CALCIUM(2+) | 4km6 | A | N222 |
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| Conservation information for LBS of FOLR1 |
| Multiple alignments for P15328 in multiple species |
| LBS | AA sequence | # species | Species |
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