mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for FLNC
Gene summary
Basic gene Info.Gene symbolFLNC
Gene namefilamin C, gamma
SynonymsABP-280|ABP280A|ABPA|ABPL|FLN2|MFM5|MPD4
CytomapUCSC genome browser: 7q32-q35
Type of geneprotein-coding
RefGenesNM_001127487.1,
NM_001458.4,
DescriptionABP-280-like proteinABP-L, gamma filaminactin binding protein 280filamin-2filamin-C
Modification date20141219
dbXrefs MIM : 102565
HGNC : HGNC
Ensembl : ENSG00000128591
HPRD : 00018
Vega : OTTHUMG00000023627
ProteinUniProt: Q14315
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FLNC
BioGPS: 2318
PathwayNCI Pathway Interaction Database: FLNC
KEGG: FLNC
REACTOME: FLNC
Pathway Commons: FLNC
ContextiHOP: FLNC
ligand binding site mutation search in PubMed: FLNC
UCL Cancer Institute: FLNC
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed 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
LBSAAchange of nsSNVCancer type# samples
V1896V1896MGBM1
S1900K1901TSKCM1
F2387I2385MUCEC1
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.
LBSAAchange of nsSNVRelative stability change
F2387I2385M-1.1941186
V1896V1896M-0.95636581
S1900K1901T-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)
* Left PPI network was created from samples with mutations in the LBS of FLNC and the right PPI network was created from samples without mutations in the LBS of FLNC. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for FLNC
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C3279722MYOPATHY, DISTAL, 41GeneticVariation
umls:C0009404Colorectal Neoplasms1Biomarker

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype 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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of FLNC go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of FLNC
Multiple alignments for Q14315 in multiple species
LBSAA sequence# speciesSpecies
D2380VQEPGDYEVSI3Homo sapiens, Mus musculus, Rattus norvegicus
E1897LSLAVEGPSKA3Homo sapiens, Mus musculus, Rattus norvegicus
E2382EPGDYEVSIKF3Homo sapiens, Mus musculus, Rattus norvegicus
F2361KAEIAFEDRKD3Homo sapiens, Mus musculus, Rattus norvegicus
F2387EVSIKFNDEHI3Homo sapiens, Mus musculus, Rattus norvegicus
G1898SLAVEGPSKAE3Homo sapiens, Mus musculus, Rattus norvegicus
G2345REAGAGGLSIA3Homo sapiens, Mus musculus, Rattus norvegicus
I2349AGGLSIAVEGP3Homo sapiens, Mus musculus, Rattus norvegicus
I2359PSKAEIAFEDR3Homo sapiens, Mus musculus, Rattus norvegicus
K2356VEGPSKAEIAF3Homo sapiens, Mus musculus, Rattus norvegicus
L2347AGAGGLSIAVE3Homo sapiens, Mus musculus, Rattus norvegicus
P1899LAVEGPSKAEI3Homo sapiens, Mus musculus, Rattus norvegicus
S1900AVEGPSKAEIT3Homo sapiens, Mus musculus, Rattus norvegicus
S2348GAGGLSIAVEG3Homo sapiens, Mus musculus, Rattus norvegicus
T2339EFSIWTREAGA3Homo sapiens, Mus musculus, Rattus norvegicus
V1896GLSLAVEGPSK3Homo sapiens, Mus musculus, Rattus norvegicus


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