|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for GTF2F1 |
 Gene summary |
| Basic gene Info. | Gene symbol | GTF2F1 |
| Gene name | general transcription factor IIF, polypeptide 1, 74kDa | |
| Synonyms | BTF4|RAP74|TF2F1|TFIIF | |
| Cytomap | UCSC genome browser: 19p13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002096.2, | |
| Description | TFIIF-alphageneral transcription factor IIF 74 kDa subunitgeneral transcription factor IIF subunit 1transcription initiation factor IIF subunit alphatranscription initiation factor RAP74 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 189968 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000125651 | ||
| HPRD : 01803 | ||
| Vega : OTTHUMG00000168087 | ||
| Protein | UniProt: P35269 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_GTF2F1 | |
| BioGPS: 2962 | ||
| Pathway | NCI Pathway Interaction Database: GTF2F1 | |
| KEGG: GTF2F1 | ||
| REACTOME: GTF2F1 | ||
| Pathway Commons: GTF2F1 | ||
| Context | iHOP: GTF2F1 | |
| ligand binding site mutation search in PubMed: GTF2F1 | ||
| UCL Cancer Institute: GTF2F1 | ||
| 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:0043085 | positive regulation of catalytic activity | 12721286 |
| Top |
| Ligand binding site mutations for GTF2F1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | E503 | R504H | COAD | 1 | N491,L493 | V492M | COAD | 1 | K475 | K476T | LUAD | 1 | F513 | L515V | LUAD | 1 | E487 | E487Q | SKCM | 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. |
| Top |
| Protein structure related information for GTF2F1 |
| 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. |
| LBS | AAchange of nsSNV | Relative stability change | E503 | R504H | -1.9926258 | E487 | E487Q | -1.0577338 | F513 | L515V | -1.0269865 | K475 | K476T | -0.96092941 | L493 | V492M | -0.71170796 | N491 | V492M | -0.71170796 |
| (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 GTF2F1 from PDB |
| Top |
| Differential gene expression and gene-gene network for GTF2F1 |
| 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) |
| Top |
| Top |
| Phenotype information for GTF2F1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| Top |
| Pharmacological information for GTF2F1 |
| 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 status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
 |
| Ligands binding to mutated ligand binding site of GTF2F1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (SER,GLU,ALA,ASP,GLU,MET,ALA,LYS,ALA,LEU,GLU,ALA,GLU,LEU,ASN,ASP,LEU,MET) | 1j2x | A | E487 N491 F513 | ZN | ZINC(2+) | 1j2x | A | E503 | III | Peptide ligand (GLU,ASP,THR,ASP,GLU,ASP,ASP,HIS,LEU,ILE,TYR,LEU,GLU,GLU,ILE,LEU,VAL,ARG,VAL) | 2k7l | A | K475 E487 L493 F513 | III | Peptide ligand (GLY,SER,SER,SER,GLU,ALA,ASP,GLU,MET,ALA,LYS,ALA,LEU,GLU,ALA,GLU,LEU,ASN,ASP,LEU,MET) | 1onv | A | L493 F513 |
| Top |
| Conservation information for LBS of GTF2F1 |
| Multiple alignments for P35269 in multiple species |
| LBS | AA sequence | # species | Species | A494 | TVNVLAQILKR | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E13 | SQNVTEYVVRV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E487 | TGLSSEQTVNV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E503 | KRLNPERKMIN | 2 | Homo sapiens, Bos taurus | E503 | KRLNPERKMIG | 2 | Mus musculus, Rattus norvegicus | F513 | NDKMHFSLKE | 2 | Homo sapiens, Bos taurus | F513 | GDKMHFSLKE | 2 | Mus musculus, Rattus norvegicus | K471 | KPMTTKDLLKK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K475 | TKDLLKKFQTK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K498 | LAQILKRLNPE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L474 | TTKDLLKKFQT | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L493 | QTVNVLAQILK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L497 | VLAQILKRLNP | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L500 | QILKRLNPERK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | M468 | LTRKPMTTKDL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | M511 | MINDKMHFSLK | 2 | Homo sapiens, Bos taurus | M511 | MIGDKMHFSLK | 2 | Mus musculus, Rattus norvegicus | N491 | SEQTVNVLAQI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N501 | ILKRLNPERKM | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | P502 | LKRLNPERKMI | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | Q478 | LLKKFQTKKTG | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | R499 | AQILKRLNPER | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S486 | KTGLSSEQTVN | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T470 | RKPMTTKDLLK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T489 | LSSEQTVNVLA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V490 | SSEQTVNVLAQ | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |