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mutLBSgeneDB |
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| Gene summary for FLNB |
 Gene summary |
| Basic gene Info. | Gene symbol | FLNB |
| Gene name | filamin B, beta | |
| Synonyms | ABP-278|ABP-280|AOI|FH1|FLN-B|FLN1L|LRS1|SCT|TABP|TAP | |
| Cytomap | UCSC genome browser: 3p14.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001164317.1, NM_001164318.1,NM_001164319.1,NM_001457.3, | |
| Description | ABP-280 homologLarsen syndrome 1 (autosomal dominant)actin binding protein 278actin-binding-like proteinbeta-filaminfilamin homolog 1filamin-3filamin-Bthyroid autoantigen | |
| Modification date | 20141219 | |
| dbXrefs | MIM : 603381 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000136068 | ||
| HPRD : 04543 | ||
| Vega : OTTHUMG00000159158 | ||
| Protein | UniProt: O75369 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_FLNB | |
| BioGPS: 2317 | ||
| Pathway | NCI Pathway Interaction Database: FLNB | |
| KEGG: FLNB | ||
| REACTOME: FLNB | ||
| Pathway Commons: FLNB | ||
| Context | iHOP: FLNB | |
| ligand binding site mutation search in PubMed: FLNB | ||
| UCL Cancer Institute: FLNB | ||
| 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 FLNB |
| 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 | Q68 | Q68E | BLCA | 1 | W148 | W148G | BRCA | 1 | W189 | E187K | SKCM | 1 | W14 | W14R | STAD | 1 | H228 | E227G | 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 FLNB |
| 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 | W148 | W148G | -1.6272015 | W189 | E187K | -1.286656 | H228 | E227G | -1.2294199 | W14 | W14R | -0.89773983 | Q68 | Q68E | -0.29434439 |
| (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 FLNB from PDB |
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| Differential gene expression and gene-gene network for FLNB |
| 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 FLNB |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1835564 | LARSEN SYNDROME | 6 | Biomarker, GeneticVariation |
| umls:C0265283 | Atelosteogenesis, type 1 | 5 | Biomarker, GeneticVariation |
| umls:C0432201 | Boomerang dysplasia | 3 | Biomarker, GeneticVariation |
| umls:C1848934 | Spondylocarpotarsal synostosis | 3 | Biomarker, GeneticVariation |
| umls:C2931648 | Larsen syndrome, dominant type | 2 | Biomarker |
| umls:C1862414 | ATELOSTEOGENESIS, TYPE III | 1 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for FLNB |
| 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 FLNB go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | CO3 | CARBONATE | 2wa5 | A | Q68 | CO3 | CARBONATE | 2wa5 | A | W14 H228 | CO3 | CARBONATE | 2wa7 | A | W148 | CO3 | CARBONATE | 2wa7 | A | W189 |
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| Conservation information for LBS of FLNB |
| Multiple alignments for O75369 in multiple species |
| LBS | AA sequence | # species | Species |
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