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mutLBSgeneDB |
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| Gene summary for SNAI1 |
 Gene summary |
| Basic gene Info. | Gene symbol | SNAI1 |
| Gene name | snail family zinc finger 1 | |
| Synonyms | SLUGH2|SNA|SNAH|SNAIL|SNAIL1|dJ710H13.1 | |
| Cytomap | UCSC genome browser: 20q13.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005985.3, | |
| Description | protein snaprotein snail homolog 1snail 1 homologsnail 1 zinc finger proteinsnail 1, zinc finger proteinsnail homolog 1zinc finger protein SNAI1 | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 604238 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000124216 | ||
| HPRD : 05025 | ||
| Vega : OTTHUMG00000033048 | ||
| Protein | UniProt: O95863 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SNAI1 | |
| BioGPS: 6615 | ||
| Pathway | NCI Pathway Interaction Database: SNAI1 | |
| KEGG: SNAI1 | ||
| REACTOME: SNAI1 | ||
| Pathway Commons: SNAI1 | ||
| Context | iHOP: SNAI1 | |
| ligand binding site mutation search in PubMed: SNAI1 | ||
| UCL Cancer Institute: SNAI1 | ||
| 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:0000122 | negative regulation of transcription from RNA polymerase II promoter | 11912130 | GO:0001837 | epithelial to mesenchymal transition | 16096638 | GO:0010957 | negative regulation of vitamin D biosynthetic process | 19502595 |
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| Ligand binding site mutations for SNAI1 |
| 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 | C213 | R215C | COAD | 2 | C259 | S260L | BLCA | 1 | C241 | R243Q | BRCA | 1 | C185 | K187E | COAD | 1 | C241 | R243W | COAD | 1 | C213 | R215H | OV | 1 | C213 | H212Q | UCEC | 1 | H198 | R200Q | 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 SNAI1 |
| 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 | C259 | S260L | 0.28494897 | C241 | R243Q | -1.0477937 | H198 | R200Q | -0.81664822 | C213 | R215H | -0.74071246 | C241 | R243W | -0.72299595 | C185 | K187E | -0.56445416 | C213 | R215C | -0.45243602 | C213 | H212Q | -0.39390267 |
| (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 SNAI1 from PDB |
| PDB ID | PDB title | PDB structure | 3W5K | Crystal structure of Snail1 and importin beta complex |  |
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| Differential gene expression and gene-gene network for SNAI1 |
| 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 SNAI1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0027627 | Neoplasm Metastasis | 28 | AlteredExpression, Biomarker |
| umls:C1458155 | Breast Neoplasms | 7 | AlteredExpression, Biomarker |
| umls:C1862939 | Amyotrophic lateral sclerosis 1 | 1 | Biomarker |
| umls:C0008370 | Cholestasis | 1 | Biomarker |
| umls:C0027626 | Neoplasm Invasiveness | 1 | Biomarker |
| umls:C0038356 | Stomach Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SNAI1 |
| 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 SNAI1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3w5k | B | C185 H198 | ZN | ZINC(2+) | 3w5k | B | C213 | ZN | ZINC(2+) | 3w5k | B | C241 C259 |
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| Conservation information for LBS of SNAI1 |
| Multiple alignments for O95863 in multiple species |
| LBS | AA sequence | # species | Species |
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