mutLBSgeneDB |
Gene summary for 101928635 |
Gene summary |
Basic gene Info. | Gene symbol | 101928635 |
Gene name | ||
Synonyms | ||
Cytomap | UCSC genome browser: | |
Type of gene | ||
RefGenes | ||
Description | ||
Modification date | ||
dbXrefs | ||
Protein | UniProt: O94788 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_101928635 | |
BioGPS: 101928635 | ||
Pathway | NCI Pathway Interaction Database: 101928635 | |
KEGG: 101928635 | ||
REACTOME: 101928635 | ||
Pathway Commons: 101928635 | ||
Context | iHOP: 101928635 | |
ligand binding site mutation search in PubMed: 101928635 | ||
UCL Cancer Institute: 101928635 | ||
Assigned class in mutLBSgeneDB |
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 101928635 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples |
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 101928635 |
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 | E213 | E213Q | -1.2755374 | I183 | I183F | -1.1152787 | W186 | W186C | -1.0693404 | P244 | T245K | -0.12552232 | G243 | G243W | -0.037459605 |
(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 101928635 from PDB |
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Differential gene expression and gene-gene network for 101928635 |
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 101928635 |
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 |
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Pharmacological information for 101928635 |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Nutraceutical | DB00157 | NADH | Small molecule | |
Approved|nutraceutical|vet_approved | DB00162 | Vitamin A | Small molecule | |
Approved|investigational|nutraceutical | DB00755 | Tretinoin | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of 101928635 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 101928635 |
Multiple alignments for O94788 in multiple species |
LBS | AA sequence | # species | Species | A212 | VVIKPAEQTPL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | A212 | CILKPAAVTPL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A248 | GPTAGAAIASH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A248 | GRTVGAALTND | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | A248 | GPIVGAAIASH | 1 | Gallus gallus | E213 | VIKPAEQTPLS | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | E213 | ILKPAAVTPLN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F261 | IDKIAFTGSTE | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | F261 | IRKLAFTGSTE | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G243 | ILPGYGPTAGA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G243 | IVPGPGRTVGA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G243 | ILPGFGPIVGA | 1 | Gallus gallus | G247 | YGPTAGAAIAS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G247 | PGRTVGAALTN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G247 | FGPIVGAAIAS | 1 | Gallus gallus | G263 | KIAFTGSTEVG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | G263 | KLAFTGSTEVG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I183 | GVCGQIIPWNF | 5 | Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Gallus gallus, Mus musculus, Rattus norvegicus | I184 | VCGQIIPWNFP | 5 | Homo sapiens, Saccharomyces cerevisiae (strain ATCC 204508 / S288c), Gallus gallus, Mus musculus, Rattus norvegicus | I271 | EVGKLIQEAAG | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | I271 | EVGKSVAVDSS | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K210 | NTVVIKPAEQT | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K210 | NVCILKPAAVT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | P244 | LPGYGPTAGAA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P244 | VPGPGRTVGAA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | P244 | LPGFGPIVGAA | 1 | Gallus gallus | S264 | IAFTGSTEVGK | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | S264 | LAFTGSTEVGK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V267 | TGSTEVGKLIQ | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | V267 | TGSTEVGKSVA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | W186 | GQIIPWNFPLL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | W186 | GQIIPWNFPIM | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y242 | NILPGYGPTAG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y242 | NIVPGPGRTVG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y242 | NILPGFGPIVG | 1 | Gallus gallus |
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