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mutLBSgeneDB |
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| Gene summary for SI |
 Gene summary |
| Basic gene Info. | Gene symbol | SI |
| Gene name | sucrase-isomaltase (alpha-glucosidase) | |
| Synonyms | - | |
| Cytomap | UCSC genome browser: 3q25.2-q26.2 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001041.3, | |
| Description | oligosaccharide alpha-1,6-glucosidasesucrase-isomaltase, intestinal | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 609845 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000090402 | ||
| HPRD : 01962 | ||
| Vega : OTTHUMG00000158065 | ||
| Protein | UniProt: P14410 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SI | |
| BioGPS: 6476 | ||
| Pathway | NCI Pathway Interaction Database: SI | |
| KEGG: SI | ||
| REACTOME: SI | ||
| Pathway Commons: SI | ||
| Context | iHOP: SI | |
| ligand binding site mutation search in PubMed: SI | ||
| UCL Cancer Institute: SI | ||
| 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 SI |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | W503 | G501R | SKCM | 2 | D264 | D264G | COAD | 1 | I425 | D427G | COAD | 1 | H662 | N661K | COAD | 1 | I389 | D390H | HNSC | 1 | H662 | S664F | HNSC | 1 | W360 | S358R | KIRC | 1 | W468 | E466Q | LUAD | 1 | W360 | W360L | LUAD | 1 | D604 | G603R | LUSC | 1 | M506 | M506V | LUSC | 1 | D505 | D505E | LUSC | 1 | W468 | E466K | 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. |
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| Protein structure related information for SI |
| 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 | I389 | D390H | -1.4940592 | W468 | E466K | -1.1955241 | I425 | D427G | -1.1945133 | W468 | E466Q | -1.1913275 | W503 | G501R | -1.0901639 | H662 | N661K | -1.0617599 | D505 | D505E | -0.96354509 | D604 | G603R | -0.91544293 | H662 | S664F | -0.89660249 | M506 | M506V | -0.81259104 | W360 | W360L | -0.54864207 | D264 | D264G | -0.35884937 | W360 | S358R | -0.27967498 |
| (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 SI from PDB |
| PDB ID | PDB title | PDB structure | 3LPO | Crystal structure of the N-terminal domain of sucrase-isomaltase |  |
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| Differential gene expression and gene-gene network for SI |
| 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 SI |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C1283620 | Sucrase-isomaltase deficiency, congenital | 8 | Biomarker, GeneticVariation |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SI |
| 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|investigational | DB00284 | Acarbose | Small molecule |  |
| Approved | DB00747 | Scopolamine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SI 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 SI |
| Multiple alignments for P14410 in multiple species |
| LBS | AA sequence | # species | Species |
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