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 HLTF
Gene summary
Basic gene Info.Gene symbolHLTF
Gene namehelicase-like transcription factor
CytomapUCSC genome browser: 3q25.1-q26.1
Type of geneprotein-coding
DescriptionDNA-binding protein/plasminogen activator inhibitor 1 regulatorDNA-binding protein/plasminogen activator inhibitor-1 regulatorRING finger protein 80SNF2-like 3SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, mem
Modification date20141222
dbXrefs MIM : 603257
Ensembl : ENSG00000071794
HPRD : 04461
Vega : OTTHUMG00000159534
ProteinUniProt: Q14527
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_HLTF
BioGPS: 6596
PathwayNCI Pathway Interaction Database: HLTF
Pathway Commons: HLTF
ContextiHOP: HLTF
ligand binding site mutation search in PubMed: HLTF
UCL Cancer Institute: HLTF
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez

Ligand binding site mutations for HLTF
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
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.

Protein structure related information for HLTF
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
(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 HLTF from PDB

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


Phenotype information for HLTF
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0022665Kidney Neoplasms2Biomarker
umls:C0017661Glomerulonephritis, IGA1Biomarker

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

Pharmacological information for HLTF
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 HLTF go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
NUCNucleic Acids4xzfAD94
NUCNucleic Acids4s0nAD94
NUCNucleic Acids4s0nBD94
NUCNucleic Acids4s0nCD94
NUCNucleic Acids4s0nDD94
NUCNucleic Acids4s0nDP173

Conservation information for LBS of HLTF
Multiple alignments for Q14527 in multiple species
LBSAA sequence# speciesSpecies
D88VALQRDPNNPY1Homo sapiens
D88VGLVREPLNVY1Arabidopsis thaliana
D88VALQREPNNPY1Mus musculus
D94PNNPYDKNAIK2Homo sapiens, Mus musculus
D94PLNVYDNNAIR1Arabidopsis thaliana
F142NNA--FTMPLH1Homo sapiens
F142SNSNRYRIPCQ1Arabidopsis thaliana
F142SNT--FTMPLY1Mus musculus
F53Homo sapiens, Arabidopsis thaliana, Mus musculus
G168QLKKHGFKLGP2Homo sapiens, Mus musculus
G168TISRGGLVLIS1Arabidopsis thaliana
G69RGHVVGLRYYT1Homo sapiens
G69IANIVGLKYYS1Arabidopsis thaliana
G69RGQVVGLRYYT1Mus musculus
H110GNQVGHLKKEL1Homo sapiens
H110SEQVGHIERTV1Arabidopsis thaliana
H110GNQVGHIKREI1Mus musculus
H147FTMPLHMTFWG1Homo sapiens
H147YRIPCQIHVFA1Arabidopsis thaliana
H147FTMPLYMTFWG1Mus musculus
K112QVGHLKKELAG1Homo sapiens
K112QVGHIERTVAA1Arabidopsis thaliana
K112QVGHIKREIAA1Mus musculus
K113VGHLKKELAGA1Homo sapiens
K113VGHIERTVAAV1Arabidopsis thaliana
K113VGHIKREIAAA1Mus musculus
K99DKNAIKVNNVN2Homo sapiens, Mus musculus
K99DNNAIRVLNTR1Arabidopsis thaliana
L111NQVGHLKKELA1Homo sapiens
L111EQVGHIERTVA1Arabidopsis thaliana
L111NQVGHIKREIA1Mus musculus
N90LQRDPNNPYDK1Homo sapiens
N90LVREPLNVYDN1Arabidopsis thaliana
N90LQREPNNPYDK1Mus musculus
N91QRDPNNPYDKN1Homo sapiens
N91VREPLNVYDNN1Arabidopsis thaliana
N91QREPNNPYDKN1Mus musculus
P173GFKLGPAPKTL1Homo sapiens
P173GLVLISESDTS1Arabidopsis thaliana
P173GFKLGPTPKTL1Mus musculus
P89ALQRDPNNPYD1Homo sapiens
P89GLVREPLNVYD1Arabidopsis thaliana
P89ALQREPNNPYD1Mus musculus
Q86EMVALQRDPNN1Homo sapiens
Q86EMVGLVREPLN1Arabidopsis thaliana
Q86EMVALQREPNN1Mus musculus
R64LFGSLRGHVVG1Homo sapiens
R64LIGFVIANIVG1Arabidopsis thaliana
R64LFGTMRGQVVG1Mus musculus
R87MVALQRDPNNP1Homo sapiens
R87MVGLVREPLNV1Arabidopsis thaliana
R87MVALQREPNNP1Mus musculus
S62SVLFGSLRGHV1Homo sapiens
S62SYLIGFVIANI1Arabidopsis thaliana
S62LVLFGTMRGQV1Mus musculus
V68LRGHVVGLRYY1Homo sapiens
V68VIANIVGLKYY1Arabidopsis thaliana
V68MRGQVVGLRYY1Mus musculus
Y72VVGLRYYTGVV2Homo sapiens, Mus musculus
Y72IVGLKYYSGRI1Arabidopsis thaliana
Y73VGLRYYTGVVN2Homo sapiens, Mus musculus
Y73VGLKYYSGRIN1Arabidopsis thaliana
Y93DPNNPYDKNAI1Homo sapiens
Y93EPLNVYDNNAI1Arabidopsis thaliana
Y93EPNNPYDKNAI1Mus musculus

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