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mutLBSgeneDB |
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| Gene summary for TLN1 |
 Gene summary |
| Basic gene Info. | Gene symbol | TLN1 |
| Gene name | talin 1 | |
| Synonyms | ILWEQ|TLN | |
| Cytomap | UCSC genome browser: 9p13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006289.3, | |
| Description | talin-1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 186745 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000137076 | ||
| HPRD : 01726 | ||
| Vega : OTTHUMG00000019874 | ||
| Protein | UniProt: Q9Y490 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_TLN1 | |
| BioGPS: 7094 | ||
| Pathway | NCI Pathway Interaction Database: TLN1 | |
| KEGG: TLN1 | ||
| REACTOME: TLN1 | ||
| Pathway Commons: TLN1 | ||
| Context | iHOP: TLN1 | |
| ligand binding site mutation search in PubMed: TLN1 | ||
| UCL Cancer Institute: TLN1 | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for TLN1 |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A360,S362 | A361V | COAD | 1 | Q381 | Q381H | HNSC | 1 | Y377 | D375H | LUAD | 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 TLN1 |
| 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 | Q381 | Q381H | -0.66298998 | S362 | A361V | -0.51758951 | A360 | A361V | -0.51758951 | Y377 | D375H | -0.36989751 |
| (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 TLN1 from PDB |
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| Differential gene expression and gene-gene network for TLN1 |
| 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 TLN1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027626 | Neoplasm Invasiveness | 1 | Biomarker |
| umls:C0029456 | Osteoporosis | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for TLN1 |
| 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 TLN1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ASP,ILE,ASP,GLN,MET,PHE,SER,THR,LEU,LEU,GLY,GLU,MET,ASP,LEU,LEU,THR,GLN,SER,LEU,GLY,VAL,ASP,THR) | 2mwn | B | A360 S362 Y377 Q381 |
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| Conservation information for LBS of TLN1 |
| Multiple alignments for Q9Y490 in multiple species |
| LBS | AA sequence | # species | Species | A360 | NIKRWAASPKS | 3 | Homo sapiens, Gallus gallus, Mus musculus | D369 | KSFTLDFGDYQ | 3 | Homo sapiens, Gallus gallus, Mus musculus | F366 | ASPKSFTLDFG | 3 | Homo sapiens, Gallus gallus, Mus musculus | K318 | FLVKEKMKGKN | 3 | Homo sapiens, Gallus gallus, Mus musculus | L325 | KGKNKLVPRLL | 3 | Homo sapiens, Gallus gallus, Mus musculus | L368 | PKSFTLDFGDY | 3 | Homo sapiens, Gallus gallus, Mus musculus | N323 | KMKGKNKLVPR | 3 | Homo sapiens, Gallus gallus, Mus musculus | Q381 | GYYSVQTTEGE | 3 | Homo sapiens, Gallus gallus, Mus musculus | R358 | LTNIKRWAASP | 3 | Homo sapiens, Gallus gallus, Mus musculus | S362 | KRWAASPKSFT | 3 | Homo sapiens, Gallus gallus, Mus musculus | S365 | AASPKSFTLDF | 3 | Homo sapiens, Gallus gallus, Mus musculus | S379 | QDGYYSVQTTE | 3 | Homo sapiens, Gallus gallus, Mus musculus | T367 | SPKSFTLDFGD | 3 | Homo sapiens, Gallus gallus, Mus musculus | V380 | DGYYSVQTTEG | 3 | Homo sapiens, Gallus gallus, Mus musculus | Y377 | DYQDGYYSVQT | 3 | Homo sapiens, Gallus gallus, Mus musculus | Y378 | YQDGYYSVQTT | 3 | Homo sapiens, Gallus gallus, Mus musculus |
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