mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

Home

Download

 Statistics

Help

About Us
Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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 FTL
Gene summary
Basic gene Info.Gene symbolFTL
Gene nameferritin, light polypeptide
SynonymsLFTD|NBIA3
CytomapUCSC genome browser: 19q13.33
Type of geneprotein-coding
RefGenesNM_000146.3,
Descriptionferritin L subunitferritin L-chainferritin light chainferritin light polypeptide-like 3
Modification date20141219
dbXrefs MIM : 134790
HGNC : HGNC
Ensembl : ENSG00000087086
HPRD : 00616
Vega : OTTHUMG00000183332
ProteinUniProt: P02792
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_FTL
BioGPS: 2512
PathwayNCI Pathway Interaction Database: FTL
KEGG: FTL
REACTOME: FTL
Pathway Commons: FTL
ContextiHOP: FTL
ligand binding site mutation search in PubMed: FTL
UCL Cancer Institute: FTL
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


Top
Ligand binding site mutations for FTL

Cancer type specific mutLBS sorted by frequency
LBSAAchange of nsSNVCancer type# samples
D128D128NBRCA1
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.


Top
Protein structure related information for FTL
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
D128D128N-0.54688805
(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 FTL from PDB

Top
Differential gene expression and gene-gene network for FTL
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 FTL and the right PPI network was created from samples without mutations in the LBS of FTL. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Top

Top
Phenotype information for FTL
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C1853578Neuroferritinopathy17Biomarker, GeneticVariation
umls:C1833213Hyperferritinemia, hereditary, with congenital cataracts12Biomarker, GeneticVariation
umls:C0011581Depressive Disorder1Biomarker
umls:C0751870Heredodegenerative Disorders, Nervous System1Biomarker
umls:C0012715Iron Metabolism Disorders1Biomarker
umls:C0022548Keloid1Biomarker
umls:C0027626Neoplasm Invasiveness1Biomarker
umls:C0028754Obesity1Biomarker
umls:C0029408Osteoarthritis1Biomarker

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

Top
Pharmacological information for FTL
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.

Gene-centered drug-gene interaction network
Drug information targeting mutLBSgene (Approved drugs only)
Drug statusDrugBank IDNameTypeDrug structure
Approved|vet_approvedDB00893Iron DextranSmall molecule
ExperimentalDB02285Protoporphyrin IxSmall molecule

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of FTL go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
CACALCIUM(2+)3hx2AD128
CACALCIUM(2+)3hx2aD128
CACALCIUM(2+)3hx2BD128
CACALCIUM(2+)3hx2bD128
CACALCIUM(2+)3hx2CD128
CACALCIUM(2+)3hx2cD128
CACALCIUM(2+)3hx2DD128
CACALCIUM(2+)3hx2dD128
CACALCIUM(2+)3hx2ED128
CACALCIUM(2+)3hx2eD128
CACALCIUM(2+)3hx2FD128
CACALCIUM(2+)3hx2fD128
CACALCIUM(2+)3hx2GD128
CACALCIUM(2+)3hx2gD128
CACALCIUM(2+)3hx2HD128
CACALCIUM(2+)3hx2hD128
CACALCIUM(2+)3hx2ID128
CACALCIUM(2+)3hx2iD128
CACALCIUM(2+)3hx2JD128
CACALCIUM(2+)3hx2jD128
CACALCIUM(2+)3hx2KD128
CACALCIUM(2+)3hx2kD128
CACALCIUM(2+)3hx2LD128
CACALCIUM(2+)3hx2lD128
CACALCIUM(2+)3hx2MD128
CACALCIUM(2+)3hx2mD128
CACALCIUM(2+)3hx2ND128
CACALCIUM(2+)3hx2nD128
CACALCIUM(2+)3hx2OD128
CACALCIUM(2+)3hx2oD128
CACALCIUM(2+)3hx2PD128
CACALCIUM(2+)3hx2pD128
CACALCIUM(2+)3hx2QD128
CACALCIUM(2+)3hx2qD128
CACALCIUM(2+)3hx2RD128
CACALCIUM(2+)3hx2rD128
CACALCIUM(2+)3hx2SD128
CACALCIUM(2+)3hx2sD128
CACALCIUM(2+)3hx2TD128
CACALCIUM(2+)3hx2tD128
CACALCIUM(2+)3hx2UD128
CACALCIUM(2+)3hx2uD128
CACALCIUM(2+)3hx2VD128
CACALCIUM(2+)3hx2vD128
CACALCIUM(2+)3hx2wD128
CACALCIUM(2+)3hx2XD128
CACALCIUM(2+)3hx2xD128
CACALCIUM(2+)3hx5AD128
CACALCIUM(2+)3hx5aD128
CACALCIUM(2+)3hx5BD128
CACALCIUM(2+)3hx5bD128
CACALCIUM(2+)3hx5CD128
CACALCIUM(2+)3hx5cD128
CACALCIUM(2+)3hx5DD128
CACALCIUM(2+)3hx5dD128
CACALCIUM(2+)3hx5ED128
CACALCIUM(2+)3hx5eD128
CACALCIUM(2+)3hx5FD128
CACALCIUM(2+)3hx5fD128
CACALCIUM(2+)3hx5GD128
CACALCIUM(2+)3hx5gD128
CACALCIUM(2+)3hx5HD128
CACALCIUM(2+)3hx5hD128
CACALCIUM(2+)3hx5ID128
CACALCIUM(2+)3hx5iD128
CACALCIUM(2+)3hx5JD128
CACALCIUM(2+)3hx5jD128
CACALCIUM(2+)3hx5KD128
CACALCIUM(2+)3hx5kD128
CACALCIUM(2+)3hx5LD128
CACALCIUM(2+)3hx5lD128
CACALCIUM(2+)3hx5MD128
CACALCIUM(2+)3hx5mD128
CACALCIUM(2+)3hx5ND128
CACALCIUM(2+)3hx5nD128
CACALCIUM(2+)3hx5OD128
CACALCIUM(2+)3hx5oD128
CACALCIUM(2+)3hx5PD128
CACALCIUM(2+)3hx5pD128
CACALCIUM(2+)3hx5QD128
CACALCIUM(2+)3hx5qD128
CACALCIUM(2+)3hx5RD128
CACALCIUM(2+)3hx5rD128
CACALCIUM(2+)3hx5SD128
CACALCIUM(2+)3hx5sD128
CACALCIUM(2+)3hx5TD128
CACALCIUM(2+)3hx5tD128
CACALCIUM(2+)3hx5UD128
CACALCIUM(2+)3hx5uD128
CACALCIUM(2+)3hx5VD128
CACALCIUM(2+)3hx5vD128
CACALCIUM(2+)3hx5WD128
CACALCIUM(2+)3hx5wD128
CACALCIUM(2+)3hx5xD128
CACALCIUM(2+)3hx7AD128
CACALCIUM(2+)3hx7aD128
CACALCIUM(2+)3hx7BD128
CACALCIUM(2+)3hx7bD128
CACALCIUM(2+)3hx7CD128
CACALCIUM(2+)3hx7cD128
CACALCIUM(2+)3hx7DD128
CACALCIUM(2+)3hx7dD128
CACALCIUM(2+)3hx7ED128
CACALCIUM(2+)3hx7eD128
CACALCIUM(2+)3hx7FD128
CACALCIUM(2+)3hx7fD128
CACALCIUM(2+)3hx7GD128
CACALCIUM(2+)3hx7gD128
CACALCIUM(2+)3hx7HD128
CACALCIUM(2+)3hx7ID128
CACALCIUM(2+)3hx7iD128
CACALCIUM(2+)3hx7JD128
CACALCIUM(2+)3hx7jD128
CACALCIUM(2+)3hx7KD128
CACALCIUM(2+)3hx7kD128
CACALCIUM(2+)3hx7LD128
CACALCIUM(2+)3hx7lD128
CACALCIUM(2+)3hx7MD128
CACALCIUM(2+)3hx7mD128
CACALCIUM(2+)3hx7ND128
CACALCIUM(2+)3hx7nD128
CACALCIUM(2+)3hx7OD128
CACALCIUM(2+)3hx7oD128
CACALCIUM(2+)3hx7PD128
CACALCIUM(2+)3hx7pD128
CACALCIUM(2+)3hx7QD128
CACALCIUM(2+)3hx7qD128
CACALCIUM(2+)3hx7RD128
CACALCIUM(2+)3hx7rD128
CACALCIUM(2+)3hx7SD128
CACALCIUM(2+)3hx7sD128
CACALCIUM(2+)3hx7TD128
CACALCIUM(2+)3hx7tD128
CACALCIUM(2+)3hx7UD128
CACALCIUM(2+)3hx7uD128
CACALCIUM(2+)3hx7VD128
CACALCIUM(2+)3hx7vD128
CACALCIUM(2+)3hx7WD128
CACALCIUM(2+)3hx7wD128
CACALCIUM(2+)3hx7XD128
CACALCIUM(2+)3hx7xD128


Top
Conservation information for LBS of FTL
Multiple alignments for P02792 in multiple species
LBSAA sequence# speciesSpecies
D128DPHLCDFLESH2Rattus norvegicus, Rattus norvegicus
D128DPHICDFLENH2Bos taurus, Bos taurus
D128DPHLCDFLENH2Canis lupus familiaris, Canis lupus familiaris
D128DPHLCDFLETH1Homo sapiens
E131LCDFLESHFLD2Rattus norvegicus, Rattus norvegicus
E131ICDFLENHFLD2Bos taurus, Bos taurus
E131LCDFLENHFLD2Canis lupus familiaris, Canis lupus familiaris
E131LCDFLETHFLD1Homo sapiens
T132CDFLENHFLDE4Bos taurus, Bos taurus, Canis lupus familiaris, Canis lupus familiaris
T132CDFLESHFLDK2Rattus norvegicus, Rattus norvegicus
T132CDFLETHFLDE1Homo sapiens


Copyright © 2016-Present - The University of Texas Health Science Center at Houston
Site Policies | State of Texas