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mutLBSgeneDB |
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| Gene summary for S100A1 |
 Gene summary |
| Basic gene Info. | Gene symbol | S100A1 |
| Gene name | S100 calcium binding protein A1 | |
| Synonyms | S100|S100-alpha|S100A | |
| Cytomap | UCSC genome browser: 1q21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006271.1, | |
| Description | S-100 protein alpha chainS-100 protein subunit alphaS100 alphaS100 calcium-binding protein A1S100 protein, alpha polypeptideprotein S100-A1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 176940 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000160678 | ||
| HPRD : 01489 | ||
| Vega : OTTHUMG00000037041 | ||
| Protein | UniProt: P23297 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_S100A1 | |
| BioGPS: 6271 | ||
| Pathway | NCI Pathway Interaction Database: S100A1 | |
| KEGG: S100A1 | ||
| REACTOME: S100A1 | ||
| Pathway Commons: S100A1 | ||
| Context | iHOP: S100A1 | |
| ligand binding site mutation search in PubMed: S100A1 | ||
| UCL Cancer Institute: S100A1 | ||
| 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 S100A1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S20 | S20L | BRCA | 1 | E69,D67 | G68E | HNSC | 1 | E69,D67 | G68W | LUAD | 1 | E69 | D71N | LUSC | 1 | K28 | K28N | 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 S100A1 |
| 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 | S20 | S20L | 0.41542895 | K28 | K28N | -0.77425667 | E69 | D71N | -0.37407158 | E69 | G68E | -0.34697361 | D67 | G68E | -0.34697361 | D67 | G68W | -0.32153137 | E69 | G68W | -0.32153137 |
| (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 S100A1 from PDB |
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| Differential gene expression and gene-gene network for S100A1 |
| 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 S100A1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0751895 | Vasospasm, Intracranial | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for S100A1 |
| 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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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved | DB00768 | Olopatadine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of S100A1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of S100A1 |
| Multiple alignments for P23297 in multiple species |
| LBS | AA sequence | # species | Species | D25 | SGKEGDKYKLS | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | D25 | SGQEGDKYKLS | 1 | Mus musculus | D63 | VMKELDENGDG | 3 | Homo sapiens, Mus musculus, Bos taurus | D63 | IMKELDENGDG | 1 | Rattus norvegicus | D67 | LDENGDGEVDF | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | E23 | AHSGKEGDKYK | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | E23 | AHSGQEGDKYK | 1 | Mus musculus | E33 | KLSKKELKELL | 2 | Homo sapiens, Bos taurus | E33 | KLSKKELKDLL | 2 | Mus musculus, Rattus norvegicus | E69 | ENGDGEVDFQE | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | E69 | ENGDGEVDFKE | 1 | Mus musculus | E74 | EVDFQEYVVLV | 2 | Homo sapiens, Bos taurus | E74 | EVDFKEYVVLV | 1 | Mus musculus | E74 | EVDFQEFVVLV | 1 | Rattus norvegicus | G24 | HSGKEGDKYKL | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | G24 | HSGQEGDKYKL | 1 | Mus musculus | H19 | NVFHAHSGKEG | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | H19 | NVFHAHSGQEG | 1 | Mus musculus | K26 | GKEGDKYKLSK | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | K26 | GQEGDKYKLSK | 1 | Mus musculus | K28 | EGDKYKLSKKE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L29 | GDKYKLSKKEL | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | N65 | KELDENGDGEV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | S20 | VFHAHSGKEGD | 3 | Homo sapiens, Rattus norvegicus, Bos taurus | S20 | VFHAHSGQEGD | 1 | Mus musculus |
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