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mutLBSgeneDB |
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| Gene summary for 101929368 |
 Gene summary |
| Basic gene Info. | Gene symbol | 101929368 |
| Gene name | ||
| Synonyms | ||
| Cytomap | UCSC genome browser: | |
| Type of gene | ||
| RefGenes | ||
| Description | ||
| Modification date | ||
| dbXrefs | ||
| Protein | UniProt: P62942 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_101929368 | |
| BioGPS: 101929368 | ||
| Pathway | NCI Pathway Interaction Database: 101929368 | |
| KEGG: 101929368 | ||
| REACTOME: 101929368 | ||
| Pathway Commons: 101929368 | ||
| Context | iHOP: 101929368 | |
| ligand binding site mutation search in PubMed: 101929368 | ||
| UCL Cancer Institute: 101929368 | ||
| 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 101929368 |
| 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 101929368 |
| 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 | I57 | R58Q | -0.95363528 | R43 | R41P | -0.89429456 | F100 | F100L | -0.8627027 | D38 | S39C | -0.66782113 |
| (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 101929368 from PDB |
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| Differential gene expression and gene-gene network for 101929368 |
| 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 101929368 |
| 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 101929368 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|investigational | DB00337 | Pimecrolimus | Small molecule |  |
| Approved|investigational | DB00864 | Tacrolimus | Small molecule |  |
| Approved|investigational | DB00877 | Sirolimus | Small molecule |  |
| Experimental | DB01712 | (3r)-4-(P-Toluenesulfonyl)-1,4-Thiazane-3-Carboxylicacid-L-Phenylalanine Ethyl Ester | Small molecule |  |
| Experimental | DB01723 | {3-[3-(3,4-Dimethoxy-Phenyl)-1-(1-{1-[2-(3,4,5-Trimethoxy-Phenyl)-Butyryl]-Piperidin-2yl}-Vinyloxy)-Propyl]-Phenoxy}-Acetic Acid | Small molecule |  |
| Experimental | DB01951 | Gpi-1046 | Small molecule |  |
| Experimental | DB02311 | Methyl Methylsulfinylmethyl Sulfide | Small molecule |  |
| Experimental | DB02888 | FKB-001 | Small molecule |  |
| Experimental | DB03338 | Heptyl-Beta-D-Glucopyranoside | Small molecule |  |
| Experimental | DB03621 | L-709,587 | Small molecule |  |
| Experimental | DB04012 | (3r)-4-(P-Toluenesulfonyl)-1,4-Thiazane-3-Carboxylicacid-L-Leucine | Small molecule |  |
| Experimental | DB04094 | 4-Hydroxy-2-Butanone | Small molecule |  |
| Investigational | DB05814 | GPI-1485 | Small molecule |  |
| Experimental | DB08231 | MYRISTIC ACID | Small molecule |  |
| Experimental | DB08520 | (21S)-1AZA-4,4-DIMETHYL-6,19-DIOXA-2,3,7,20-TETRAOXOBICYCLO[19.4.0] PENTACOSANE | Small molecule |  |
| Experimental | DB08597 | 6-[4-(2-piperidin-1-ylethoxy)phenyl]-3-pyridin-4-ylpyrazolo[1,5-a]pyrimidine | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of 101929368 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 101929368 |
| Multiple alignments for P62942 in multiple species |
| LBS | AA sequence | # species | Species | A82 | ISPDYAYGATG | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | A82 | ISSDYAYGATG | 1 | Mus musculus | D38 | DGKKFDSSRDR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D80 | LTISPDYAYGA | 2 | Homo sapiens, Bos taurus | D80 | LIISSDYAYGA | 1 | Mus musculus | D80 | LIISPDYAYGA | 1 | Rattus norvegicus | E55 | TLGKQEVIRGW | 2 | Mus musculus, Rattus norvegicus | E55 | MLGKQEVIRGW | 1 | Homo sapiens | E55 | VLGKQEVIRGW | 1 | Bos taurus | F100 | HATLVFDVELL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F100 | NATLIFDVELL | 1 | Bos taurus | F37 | EDGKKFDSSRD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | F47 | DRNKPFKFTLG | 2 | Mus musculus, Rattus norvegicus | F47 | DRNKPFKFMLG | 1 | Homo sapiens | F47 | DRNKPFKFVLG | 1 | Bos taurus | G84 | PDYAYGATGHP | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | G84 | SDYAYGATGHP | 1 | Mus musculus | H88 | YGATGHPGIIP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I57 | GKQEVIRGWEE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I8 | VQVETISPGDG | 3 | Homo sapiens, Bos taurus, Mus musculus | I8 | VQVETISSGDG | 1 | Rattus norvegicus | I91 | TGHPGIIPPHA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I91 | TGHPGIIPPNA | 1 | Bos taurus | I92 | GHPGIIPPHAT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I92 | GHPGIIPPNAT | 1 | Bos taurus | Q54 | FTLGKQEVIRG | 2 | Mus musculus, Rattus norvegicus | Q54 | FMLGKQEVIRG | 1 | Homo sapiens | Q54 | FVLGKQEVIRG | 1 | Bos taurus | R43 | DSSRDRNKPFK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S9 | QVETISPGDGR | 3 | Homo sapiens, Bos taurus, Mus musculus | S9 | QVETISSGDGR | 1 | Rattus norvegicus | T86 | YAYGATGHPGI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | V56 | LGKQEVIRGWE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | W60 | EVIRGWEEGVA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y27 | TCVVHYTGMLE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y83 | SPDYAYGATGH | 3 | Homo sapiens, Bos taurus, Rattus norvegicus | Y83 | SSDYAYGATGH | 1 | Mus musculus |
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