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 FHL1
Gene summary
Basic gene Info.Gene symbolFHL1
Gene namefour and a half LIM domains 1
SynonymsFHL-1|FHL1A|FHL1B|FLH1A|KYOT|SLIM|SLIM-1|SLIM1|SLIMMER|XMPMA
CytomapUCSC genome browser: Xq26
Type of geneprotein-coding
RefGenesNM_001159699.1,
NM_001159700.1,NM_001159701.1,NM_001159702.2,NM_001159703.1,
NM_001159704.1,NM_001167819.1,NM_001449.4,NR_027621.1,
DescriptionLIM protein SLIMMERfour and a half LIM domains protein 1four-and-a-half Lin11, Isl-1 and Mec-3 domains 1skeletal muscle LIM-protein 1
Modification date20141219
dbXrefs MIM : 300163
HGNC : HGNC
Ensembl : ENSG00000022267
HPRD : 02157
Vega : OTTHUMG00000022504
ProteinUniProt: Q13642
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FHL1
BioGPS: 2273
PathwayNCI Pathway Interaction Database: FHL1
KEGG: FHL1
REACTOME: FHL1
Pathway Commons: FHL1
ContextiHOP: FHL1
ligand binding site mutation search in PubMed: FHL1
UCL Cancer Institute: FHL1
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
GO:0003254regulation of membrane depolarization18281375
GO:0010972negative regulation of G2/M transition of mitotic cell cycle21702045
GO:0030308negative regulation of cell growth21702045
GO:0043268positive regulation of potassium ion transport18281375
GO:1901016regulation of potassium ion transmembrane transporter activity18281375
GO:2000134negative regulation of G1/S transition of mitotic cell cycle21702045


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Ligand binding site mutations for FHL1
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
C68R67CCOAD1
C40N38YLUAD1
C104G103RSKCM1
C212C212RSTAD1
C191T190ASTAD1
C224K225NUCEC1
C150V151MUCEC1
C185D184NUCEC1
C150F148LUCEC1
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 FHL1
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
C212C212R-1.5027368
C185D184N-1.1635372
C150F148L-1.146983
C68R67C-0.8571826
C150V151M-0.81699769
C191T190A-0.76675254
C40N38Y-0.64340926
C224K225N-0.56041967
C104G103R-0.45996591
(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 FHL1 from PDB

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Differential gene expression and gene-gene network for FHL1
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 FHL1 and the right PPI network was created from samples without mutations in the LBS of FHL1. 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 FHL1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for FHL1
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 FHL1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS


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Conservation information for LBS of FHL1
Multiple alignments for Q13642 in multiple species
LBSAA sequence# speciesSpecies


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