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 GTF2H1
Gene summary
Basic gene Info.Gene symbolGTF2H1
Gene namegeneral transcription factor IIH, polypeptide 1, 62kDa
CytomapUCSC genome browser: 11p15.1-p14
Type of geneprotein-coding
DescriptionBTF2 p62TFIIH basal transcription factor complex p62 subunitbasic transcription factor 2 62 kDa subunitgeneral transcription factor IIH polypeptide 1general transcription factor IIH subunit 1
Modification date20141211
dbXrefs MIM : 189972
Ensembl : ENSG00000110768
HPRD : 01807
Vega : OTTHUMG00000167690
ProteinUniProt: P32780
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_GTF2H1
BioGPS: 2965
PathwayNCI Pathway Interaction Database: GTF2H1
Pathway Commons: GTF2H1
ContextiHOP: GTF2H1
ligand binding site mutation search in PubMed: GTF2H1
UCL Cancer Institute: GTF2H1
Assigned class in mutLBSgeneDBB: This gene belongs to targetable_mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO:0006200ATP catabolic process9852112
GO:0006366transcription from RNA polymerase II promoter9852112
GO:0006468protein phosphorylation9852112
GO:0045944positive regulation of transcription from RNA polymerase II promoter8692841

Ligand binding site mutations for GTF2H1

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 GTF2H1
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 GTF2H1 from PDB

Differential gene expression and gene-gene network for GTF2H1
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 GTF2H1 and the right PPI network was created from samples without mutations in the LBS of GTF2H1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


Phenotype information for GTF2H1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type
umls:C0031117Peripheral Nervous System Diseases1Biomarker

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

Pharmacological information for GTF2H1
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 GTF2H1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS

Conservation information for LBS of GTF2H1
Multiple alignments for P32780 in multiple species
LBSAA sequence# speciesSpecies
A107KFKRKANK---2Homo sapiens, Mus musculus
A107KCEEEPNKLVV1Arabidopsis thaliana
A107KCELEPNKSVV1Arabidopsis thaliana
A107NFKRKVDK---1Drosophila melanogaster
C52YADIKCQKISP2Homo sapiens, Mus musculus
C52THNIKSQKYTK1Arabidopsis thaliana
C52TQNIKSQKYTK1Arabidopsis thaliana
C52YADIKTQKISP1Drosophila melanogaster
I55IKCQKISPEGK2Homo sapiens, Mus musculus
I55IKSQKYTKEGS2Arabidopsis thaliana, Arabidopsis thaliana
I55IKTQKISPEGK1Drosophila melanogaster
K104LLPKFKRKANK2Homo sapiens, Mus musculus
K104ALAKCEEEPNK1Arabidopsis thaliana
K104ALAKCELEPNK1Arabidopsis thaliana
K104LLPNFKRKVDK1Drosophila melanogaster
K106PKFKRKANK--2Homo sapiens, Mus musculus
K106AKCEEEPNKLV1Arabidopsis thaliana
K106AKCELEPNKSV1Arabidopsis thaliana
K106PNFKRKVDK--1Drosophila melanogaster
K18K-VRQKKQDGA2Homo sapiens, Mus musculus
K18SFVKDPGTLGS1Arabidopsis thaliana
K18STVKDPGTPGF1Arabidopsis thaliana
K18E-VRYKKGDGT1Drosophila melanogaster
K19-VRQKKQDGAL2Homo sapiens, Mus musculus
K19FVKDPGTLGSL1Arabidopsis thaliana
K19TVKDPGTPGFL1Arabidopsis thaliana
K19-VRYKKGDGTL1Drosophila melanogaster
K51MYADIKCQKIS2Homo sapiens, Mus musculus
K51QTHNIKSQKYT1Arabidopsis thaliana
K51LTQNIKSQKYT1Arabidopsis thaliana
K51RYADIKTQKIS1Drosophila melanogaster
K54DIKCQKISPEG2Homo sapiens, Mus musculus
K54NIKSQKYTKEG2Arabidopsis thaliana, Arabidopsis thaliana
K54DIKTQKISPEG1Drosophila melanogaster
K60ISPEGKAKIQ-2Homo sapiens, Mus musculus
K60YTKEGSNKPPW2Arabidopsis thaliana, Arabidopsis thaliana
K60ISPEGKPKVQ-1Drosophila melanogaster
K62PEGKAKIQ-LQ2Homo sapiens, Mus musculus
K62KEGSNKPPWLN2Arabidopsis thaliana, Arabidopsis thaliana
K62PEGKPKVQ-LQ1Drosophila melanogaster
K93ERDAVKDLLQQ2Homo sapiens, Mus musculus
K93DMHACRDFITK2Arabidopsis thaliana, Arabidopsis thaliana
K93DRDKVKELLQQ1Drosophila melanogaster
L65AKIQ-LQLVLH2Homo sapiens, Mus musculus
L65NKPPWLNLTSK1Arabidopsis thaliana
L65NKPPWLNLTNK1Arabidopsis thaliana
L65PKVQ-LQVVLH1Drosophila melanogaster
N76AGDTTNFHFSN2Homo sapiens, Mus musculus
N76QGRSHIFEFEN1Arabidopsis thaliana
N76QAKSHIFEFEN1Arabidopsis thaliana
N76DGNTSTFHFVN1Drosophila melanogaster
P57CQKISPEGKAK2Homo sapiens, Mus musculus
P57SQKYTKEGSNK2Arabidopsis thaliana, Arabidopsis thaliana
P57TQKISPEGKPK1Drosophila melanogaster
Q17KK-VRQKKQDG2Homo sapiens, Mus musculus
Q17KSFVKDPGTLG1Arabidopsis thaliana
Q17KSTVKDPGTPG1Arabidopsis thaliana
Q17GE-VRYKKGDG1Drosophila melanogaster
Q53ADIKCQKISPE2Homo sapiens, Mus musculus
Q53HNIKSQKYTKE1Arabidopsis thaliana
Q53QNIKSQKYTKE1Arabidopsis thaliana
Q53ADIKTQKISPE1Drosophila melanogaster
Q64GKAKIQ-LQLV2Homo sapiens, Mus musculus
Q64GSNKPPWLNLT2Arabidopsis thaliana, Arabidopsis thaliana
Q64GKPKVQ-LQVV1Drosophila melanogaster
Q66KIQ-LQLVLHA2Homo sapiens, Mus musculus
Q66KPPWLNLTSKQ1Arabidopsis thaliana
Q66KPPWLNLTNKQ1Arabidopsis thaliana
Q66KVQ-LQVVLHD1Drosophila melanogaster
Q97VKDLLQQLLPK2Homo sapiens, Mus musculus
Q97CRDFITKALAK2Arabidopsis thaliana, Arabidopsis thaliana
Q97VKELLQQLLPN1Drosophila melanogaster
R105LPKFKRKANK-2Homo sapiens, Mus musculus
R105LAKCEEEPNKL1Arabidopsis thaliana
R105LAKCELEPNKS1Arabidopsis thaliana
R105LPNFKRKVDK-1Drosophila melanogaster
S56KCQKISPEGKA2Homo sapiens, Mus musculus
S56KSQKYTKEGSN2Arabidopsis thaliana, Arabidopsis thaliana
S56KTQKISPEGKP1Drosophila melanogaster

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