mutLBSgeneDB |
Gene summary for FLNC |
Gene summary |
Basic gene Info. | Gene symbol | FLNC |
Gene name | filamin C, gamma | |
Synonyms | ABP-280|ABP280A|ABPA|ABPL|FLN2|MFM5|MPD4 | |
Cytomap | UCSC genome browser: 7q32-q35 | |
Type of gene | protein-coding | |
RefGenes | NM_001127487.1, NM_001458.4, | |
Description | ABP-280-like proteinABP-L, gamma filaminactin binding protein 280filamin-2filamin-C | |
Modification date | 20141219 | |
dbXrefs | MIM : 102565 | |
HGNC : HGNC | ||
Ensembl : ENSG00000128591 | ||
HPRD : 00018 | ||
Vega : OTTHUMG00000023627 | ||
Protein | UniProt: Q14315 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_FLNC | |
BioGPS: 2318 | ||
Pathway | NCI Pathway Interaction Database: FLNC | |
KEGG: FLNC | ||
REACTOME: FLNC | ||
Pathway Commons: FLNC | ||
Context | iHOP: FLNC | |
ligand binding site mutation search in PubMed: FLNC | ||
UCL Cancer Institute: FLNC | ||
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 FLNC |
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. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | V1896 | V1896M | GBM | 1 | S1900 | K1901T | SKCM | 1 | F2387 | I2385M | 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 FLNC |
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 |
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 | F2387 | I2385M | -1.1941186 | V1896 | V1896M | -0.95636581 | S1900 | K1901T | -0.69877856 |
(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 FLNC from PDB |
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Differential gene expression and gene-gene network for FLNC |
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 FLNC |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C3279722 | MYOPATHY, DISTAL, 4 | 1 | GeneticVariation |
umls:C0009404 | Colorectal 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 FLNC |
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. |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of FLNC go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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Conservation information for LBS of FLNC |
Multiple alignments for Q14315 in multiple species |
LBS | AA sequence | # species | Species | D2380 | VQEPGDYEVSI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E1897 | LSLAVEGPSKA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E2382 | EPGDYEVSIKF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F2361 | KAEIAFEDRKD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F2387 | EVSIKFNDEHI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G1898 | SLAVEGPSKAE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G2345 | REAGAGGLSIA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I2349 | AGGLSIAVEGP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I2359 | PSKAEIAFEDR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K2356 | VEGPSKAEIAF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L2347 | AGAGGLSIAVE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P1899 | LAVEGPSKAEI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S1900 | AVEGPSKAEIT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S2348 | GAGGLSIAVEG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T2339 | EFSIWTREAGA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V1896 | GLSLAVEGPSK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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