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mutLBSgeneDB |
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| Gene summary for GTF2H1 |
 Gene summary |
| Basic gene Info. | Gene symbol | GTF2H1 |
| Gene name | general transcription factor IIH, polypeptide 1, 62kDa | |
| Synonyms | BTF2|P62|TFB1|TFIIH | |
| Cytomap | UCSC genome browser: 11p15.1-p14 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001142307.1, NM_005316.3, | |
| Description | BTF2 p62TFIIH basal transcription factor complex p62 subunitbasic transcription factor 2 62 kDa subunitgeneral transcription factor IIH polypeptide 1general transcription factor IIH subunit 1 | |
| Modification date | 20141211 | |
| dbXrefs | MIM : 189972 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000110768 | ||
| HPRD : 01807 | ||
| Vega : OTTHUMG00000167690 | ||
| Protein | UniProt: P32780 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GTF2H1 | |
| BioGPS: 2965 | ||
| Pathway | NCI Pathway Interaction Database: GTF2H1 | |
| KEGG: GTF2H1 | ||
| REACTOME: GTF2H1 | ||
| Pathway Commons: GTF2H1 | ||
| Context | iHOP: GTF2H1 | |
| ligand binding site mutation search in PubMed: GTF2H1 | ||
| UCL Cancer Institute: GTF2H1 | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID | GO:0006200 | ATP catabolic process | 9852112 | GO:0006366 | transcription from RNA polymerase II promoter | 9852112 | GO:0006468 | protein phosphorylation | 9852112 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 8692841 |
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| Ligand binding site mutations for GTF2H1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | K60 | K60T | COAD | 1 | C52 | C52F | KIRC | 1 | K93 | D94N | SKCM | 1 | A107 | K109E | SKCM | 1 | Q17 | R16C | UCEC | 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 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 |
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| 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 | A107 | K109E | 0.43500876 | C52 | C52F | -0.9337579 | K60 | K60T | -0.82894411 | Q17 | R16C | -0.78186216 | K93 | D94N | -0.11353508 |
| (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 |
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| 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) |
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| Phenotype information for GTF2H1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0031117 | Peripheral Nervous System Diseases | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| 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. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of GTF2H1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ASP,ASP,LEU,MET,LEU,SER,PRO,ASP,ASP,ILE,GLU,GLN,TRP,PHE,THR,GLU,ASP,PRO,GLY,PRO,ASP,GLU) | 2ruk | B | Q17 C52 K60 K93 A107 |
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| Conservation information for LBS of GTF2H1 |
| Multiple alignments for P32780 in multiple species |
| LBS | AA sequence | # species | Species | A107 | KFKRKANK--- | 2 | Homo sapiens, Mus musculus | A107 | KCEEEPNKLVV | 1 | Arabidopsis thaliana | A107 | KCELEPNKSVV | 1 | Arabidopsis thaliana | A107 | NFKRKVDK--- | 1 | Drosophila melanogaster | C52 | YADIKCQKISP | 2 | Homo sapiens, Mus musculus | C52 | THNIKSQKYTK | 1 | Arabidopsis thaliana | C52 | TQNIKSQKYTK | 1 | Arabidopsis thaliana | C52 | YADIKTQKISP | 1 | Drosophila melanogaster | I55 | IKCQKISPEGK | 2 | Homo sapiens, Mus musculus | I55 | IKSQKYTKEGS | 2 | Arabidopsis thaliana, Arabidopsis thaliana | I55 | IKTQKISPEGK | 1 | Drosophila melanogaster | K104 | LLPKFKRKANK | 2 | Homo sapiens, Mus musculus | K104 | ALAKCEEEPNK | 1 | Arabidopsis thaliana | K104 | ALAKCELEPNK | 1 | Arabidopsis thaliana | K104 | LLPNFKRKVDK | 1 | Drosophila melanogaster | K106 | PKFKRKANK-- | 2 | Homo sapiens, Mus musculus | K106 | AKCEEEPNKLV | 1 | Arabidopsis thaliana | K106 | AKCELEPNKSV | 1 | Arabidopsis thaliana | K106 | PNFKRKVDK-- | 1 | Drosophila melanogaster | K18 | K-VRQKKQDGA | 2 | Homo sapiens, Mus musculus | K18 | SFVKDPGTLGS | 1 | Arabidopsis thaliana | K18 | STVKDPGTPGF | 1 | Arabidopsis thaliana | K18 | E-VRYKKGDGT | 1 | Drosophila melanogaster | K19 | -VRQKKQDGAL | 2 | Homo sapiens, Mus musculus | K19 | FVKDPGTLGSL | 1 | Arabidopsis thaliana | K19 | TVKDPGTPGFL | 1 | Arabidopsis thaliana | K19 | -VRYKKGDGTL | 1 | Drosophila melanogaster | K51 | MYADIKCQKIS | 2 | Homo sapiens, Mus musculus | K51 | QTHNIKSQKYT | 1 | Arabidopsis thaliana | K51 | LTQNIKSQKYT | 1 | Arabidopsis thaliana | K51 | RYADIKTQKIS | 1 | Drosophila melanogaster | K54 | DIKCQKISPEG | 2 | Homo sapiens, Mus musculus | K54 | NIKSQKYTKEG | 2 | Arabidopsis thaliana, Arabidopsis thaliana | K54 | DIKTQKISPEG | 1 | Drosophila melanogaster | K60 | ISPEGKAKIQ- | 2 | Homo sapiens, Mus musculus | K60 | YTKEGSNKPPW | 2 | Arabidopsis thaliana, Arabidopsis thaliana | K60 | ISPEGKPKVQ- | 1 | Drosophila melanogaster | K62 | PEGKAKIQ-LQ | 2 | Homo sapiens, Mus musculus | K62 | KEGSNKPPWLN | 2 | Arabidopsis thaliana, Arabidopsis thaliana | K62 | PEGKPKVQ-LQ | 1 | Drosophila melanogaster | K93 | ERDAVKDLLQQ | 2 | Homo sapiens, Mus musculus | K93 | DMHACRDFITK | 2 | Arabidopsis thaliana, Arabidopsis thaliana | K93 | DRDKVKELLQQ | 1 | Drosophila melanogaster | L65 | AKIQ-LQLVLH | 2 | Homo sapiens, Mus musculus | L65 | NKPPWLNLTSK | 1 | Arabidopsis thaliana | L65 | NKPPWLNLTNK | 1 | Arabidopsis thaliana | L65 | PKVQ-LQVVLH | 1 | Drosophila melanogaster | N76 | AGDTTNFHFSN | 2 | Homo sapiens, Mus musculus | N76 | QGRSHIFEFEN | 1 | Arabidopsis thaliana | N76 | QAKSHIFEFEN | 1 | Arabidopsis thaliana | N76 | DGNTSTFHFVN | 1 | Drosophila melanogaster | P57 | CQKISPEGKAK | 2 | Homo sapiens, Mus musculus | P57 | SQKYTKEGSNK | 2 | Arabidopsis thaliana, Arabidopsis thaliana | P57 | TQKISPEGKPK | 1 | Drosophila melanogaster | Q17 | KK-VRQKKQDG | 2 | Homo sapiens, Mus musculus | Q17 | KSFVKDPGTLG | 1 | Arabidopsis thaliana | Q17 | KSTVKDPGTPG | 1 | Arabidopsis thaliana | Q17 | GE-VRYKKGDG | 1 | Drosophila melanogaster | Q53 | ADIKCQKISPE | 2 | Homo sapiens, Mus musculus | Q53 | HNIKSQKYTKE | 1 | Arabidopsis thaliana | Q53 | QNIKSQKYTKE | 1 | Arabidopsis thaliana | Q53 | ADIKTQKISPE | 1 | Drosophila melanogaster | Q64 | GKAKIQ-LQLV | 2 | Homo sapiens, Mus musculus | Q64 | GSNKPPWLNLT | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Q64 | GKPKVQ-LQVV | 1 | Drosophila melanogaster | Q66 | KIQ-LQLVLHA | 2 | Homo sapiens, Mus musculus | Q66 | KPPWLNLTSKQ | 1 | Arabidopsis thaliana | Q66 | KPPWLNLTNKQ | 1 | Arabidopsis thaliana | Q66 | KVQ-LQVVLHD | 1 | Drosophila melanogaster | Q97 | VKDLLQQLLPK | 2 | Homo sapiens, Mus musculus | Q97 | CRDFITKALAK | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Q97 | VKELLQQLLPN | 1 | Drosophila melanogaster | R105 | LPKFKRKANK- | 2 | Homo sapiens, Mus musculus | R105 | LAKCEEEPNKL | 1 | Arabidopsis thaliana | R105 | LAKCELEPNKS | 1 | Arabidopsis thaliana | R105 | LPNFKRKVDK- | 1 | Drosophila melanogaster | S56 | KCQKISPEGKA | 2 | Homo sapiens, Mus musculus | S56 | KSQKYTKEGSN | 2 | Arabidopsis thaliana, Arabidopsis thaliana | S56 | KTQKISPEGKP | 1 | Drosophila melanogaster |
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