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 FLNA

Gene summary

Basic gene Info.	Gene symbol	FLNA
	Gene name	filamin A, alpha
	Synonyms	ABP-280\|ABPX\|CSBS\|CVD1\|FLN\|FLN-A\|FLN1\|FMD\|MNS\|NHBP\|OPD\|OPD1\|OPD2\|XLVD\|XMVD
	Cytomap	UCSC genome browser: Xq28
	Type of gene	protein-coding
	RefGenes	NM_001110556.1, NM_001456.3,
	Description	actin binding protein 280alpha-filaminendothelial actin-binding proteinfilamin-1filamin-Anon-muscle filamin
	Modification date	20141219
dbXrefs	MIM : 300017
	HGNC : HGNC
	Ensembl : ENSG00000196924
	HPRD : 02060
	Vega : OTTHUMG00000022712
Protein	UniProt: P21333 go to UniProt's Cross Reference DB Table
Expression	CleanEX: HS_FLNA
	BioGPS: 2316
Pathway	NCI Pathway Interaction Database: FLNA
	KEGG: FLNA
	REACTOME: FLNA
	Pathway Commons: FLNA
Context	iHOP: FLNA
	ligand binding site mutation search in PubMed: FLNA
	UCL Cancer Institute: FLNA
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
GO:0031532	actin cytoskeleton reorganization	10051605
GO:0034394	protein localization to cell surface	18322202
GO:0043113	receptor clustering	10692483
GO:0043433	negative regulation of sequence-specific DNA binding transcription factor activity	15684392
GO:0045184	establishment of protein localization	18322202
GO:0051764	actin crosslink formation	10051605
GO:0090307	spindle assembly involved in mitosis	18548008

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Ligand binding site mutations for FLNA

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
I1910,C1912	S1911I	GBM	1
S1899	S1899F	SKCM	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 FLNA

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
C1912	S1911I	-0.42026502
I1910	S1911I	-0.42026502
S1899	S1899F	-0.18032439

(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 FLNA from PDB

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Differential gene expression and gene-gene network for FLNA

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 FLNA and the right PPI network was created from samples without mutations in the LBS of FLNA. 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 FLNA

Gene level disease information (DisGeNet)

Disease ID	Disease name	# PubMed	Association type
umls:C1868720	Periventricular Nodular Heterotopia	19	Biomarker
umls:C1848213	X-linked periventricular heterotopia	11	Biomarker, GeneticVariation
umls:C1844696	Oto-palato-digital syndrome, type 2	10	Biomarker, GeneticVariation
umls:C0265293	Frontometaphyseal dysplasia	7	Biomarker, GeneticVariation
umls:C0265251	Oto-Palato-digital syndrome type 1	4	Biomarker, GeneticVariation
umls:C0025237	Melnick-Needles syndrome	4	Biomarker, GeneticVariation
umls:C0014544	Epilepsy	2	Biomarker
umls:C0262436	Cardiac valvular dysplasia, X-linked	1	Biomarker, GeneticVariation
umls:C1846129	Terminal Osseous Dysplasia and Pigmentary Defects	1	Biomarker, GeneticVariation
umls:C0220769	Opitz-Kaveggia syndrome	1	Biomarker, GeneticVariation
umls:C0029422	Osteochondrodysplasias	1	Biomarker
umls:C2748918	Otopalatodigital Spectrum Disorder	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 FLNA

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 FLNA go to BioLip

Ligand ID	Ligand short name	Ligand long name	PDB ID	PDB name	mutLBS
III		Peptide ligand (ARG,GLY,SER,LEU,PRO,THR,PHE,ARG,SER,SER,LEU,PHE,LEU,TRP,VAL,ARG,PRO)	2bp3	A	S1899 I1910 C1912
III		Peptide ligand (THR,PHE,ARG,SER,SER,LEU,PHE,LEU,TRP,VAL,ARG)	2bp3	B	S1899 I1910 C1912

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Conservation information for LBS of FLNA

Multiple alignments for P21333 in multiple species

LBS

AA sequence

# species

Species