|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for TERF1 |
 Gene summary |
| Basic gene Info. | Gene symbol | TERF1 |
| Gene name | telomeric repeat binding factor (NIMA-interacting) 1 | |
| Synonyms | PIN2|TRBF1|TRF|TRF1|hTRF1-AS|t-TRF1 | |
| Cytomap | UCSC genome browser: 8q21.11 | |
| Type of gene | protein-coding | |
| RefGenes | NM_003218.3, NM_017489.2, | |
| Description | NIMA-interacting protein 2TTAGGG repeat-binding factor 1telomeric protein Pin2/TRF1telomeric repeat-binding factor 1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 600951 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000147601 | ||
| HPRD : 02975 | ||
| Vega : OTTHUMG00000164522 | ||
| Protein | UniProt: P54274 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TERF1 | |
| BioGPS: 7013 | ||
| Pathway | NCI Pathway Interaction Database: TERF1 | |
| KEGG: TERF1 | ||
| REACTOME: TERF1 | ||
| Pathway Commons: TERF1 | ||
| Context | iHOP: TERF1 | |
| ligand binding site mutation search in PubMed: TERF1 | ||
| UCL Cancer Institute: TERF1 | ||
| 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:0001309 | age-dependent telomere shortening | 9034193 | GO:0008156 | negative regulation of DNA replication | 11327863 | GO:0031116 | positive regulation of microtubule polymerization | 11943150 | GO:0043065 | positive regulation of apoptotic process | 11313893 | GO:0051260 | protein homooligomerization | 9391075 |
| Top |
| Ligand binding site mutations for TERF1 |
| 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 |
| LBS | AAchange of nsSNV | Cancer type | # samples | T149 | P150L | COAD | 1 | I109 | I108S | HNSC | 1 | L44 | E46K | HNSC | 1 | I109 | I108V | LUSC | 1 | R425 | R425G | LUSC | 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 TERF1 |
| 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 | I109 | I108S | -1.3754935 | L44 | E46K | -1.2340237 | R425 | R425G | -1.0370552 | I109 | I108V | -1.0152014 | T149 | P150L | -0.3622525 |
| (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 TERF1 from PDB |
| Top |
| Differential gene expression and gene-gene network for TERF1 |
| 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 TERF1 |
| 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 TERF1 |
| 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 TERF1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (SER,HIS,PHE,ASN,LEU,ALA,PRO,LEU,GLY,ARG,ARG,ARG,VAL) | 3bqo | A | I109 T149 | NUC | Nucleic Acids | 1iv6 | A | R425 | NUC | Nucleic Acids | 1w0t | A | R425 | NUC | Nucleic Acids | 1w0t | A | R425 | NUC | Nucleic Acids | 1w0t | B | R425 | NUC | Nucleic Acids | 1w0t | B | R425 |
| Top |
| Conservation information for LBS of TERF1 |
| Multiple alignments for P54274 in multiple species |
| LBS | AA sequence | # species | Species |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |