mutLBSgeneDB |
Gene summary for 100500842 |
Gene summary |
Basic gene Info. | Gene symbol | 100500842 |
Gene name | ||
Synonyms | ||
Cytomap | UCSC genome browser: | |
Type of gene | ||
RefGenes | ||
Description | ||
Modification date | ||
dbXrefs | ||
Protein | UniProt: P14625 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_100500842 | |
BioGPS: 100500842 | ||
Pathway | NCI Pathway Interaction Database: 100500842 | |
KEGG: 100500842 | ||
REACTOME: 100500842 | ||
Pathway Commons: 100500842 | ||
Context | iHOP: 100500842 | |
ligand binding site mutation search in PubMed: 100500842 | ||
UCL Cancer Institute: 100500842 | ||
Assigned class in mutLBSgeneDB |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO Term | PubMed ID |
Top |
Ligand binding site mutations for 100500842 |
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. |
Top |
Protein structure related information for 100500842 |
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 | W223 | E224K | -1.0030538 | Y200 | Y200F | -0.46905518 | A111 | D113E | -0.34353756 |
(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 100500842 from PDB |
Top |
Differential gene expression and gene-gene network for 100500842 |
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) |
Top |
Top |
Phenotype information for 100500842 |
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 |
Top |
Pharmacological information for 100500842 |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Approved | DB00615 | Rifabutin | Small molecule | |
Experimental | DB02103 | 2-Chlorodideoxyadenosine | Small molecule | |
Experimental | DB02935 | 1-Methoxy-2-(2-Methoxyethoxy)Ethane | Small molecule | |
Experimental | DB03719 | N-Ethyl-5'-Carboxamido Adenosine | Small molecule | |
Experimental | DB03758 | Radicicol | Small molecule | |
Experimental | DB08464 | METHYL 3-CHLORO-2-{3-[(2,5-DIHYDROXY-4-METHOXYPHENYL)AMINO]-3-OXOPROPYL}-4,6-DIHYDROXYBENZOATE | Small molecule | |
Experimental | DB08465 | 2-(3-AMINO-2,5,6-TRIMETHOXYPHENYL)ETHYL 5-CHLORO-2,4-DIHYDROXYBENZOATE | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of 100500842 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 2LC | 2-FLUORO-6-[(3S)-TETRAHYDROFURAN-3-YLAMINO]-4-(3,6,6- TRIMETHYL-4-OXO-4,5,6,7-TETRAHYDRO-1H-INDOL-1-YL) BENZAMIDE | 4nh9 | A | A111 Y200 W223 |
Top |
Conservation information for LBS of 100500842 |
Multiple alignments for P14625 in multiple species |
LBS | AA sequence | # species | Species | A108 | ELISNASDALD | 7 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | A111 | SNASDALDKIR | 7 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | D149 | LLHVTDTGVGM | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | D149 | LLHITDTGVGM | 1 | Caenorhabditis elegans | D149 | MLHVTDTGIGM | 1 | Gallus gallus | E158 | GMTREELVKNL | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | E158 | GMTRQDLINNL | 1 | Caenorhabditis elegans | E158 | GMTKEELIKNL | 1 | Gallus gallus | F199 | QFGVGFYSAFL | 6 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | F199 | QFGVGFYAAFL | 1 | Caenorhabditis elegans | I247 | GRGTTITLVLK | 6 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | I247 | KRGTQITLYLK | 1 | Caenorhabditis elegans | M154 | DTGVGMTREEL | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | M154 | DTGVGMTRQDL | 1 | Caenorhabditis elegans | M154 | DTGIGMTKEEL | 1 | Gallus gallus | N107 | RELISNASDAL | 7 | Homo sapiens, Caenorhabditis elegans, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | T245 | TLGRGTTITLV | 6 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | T245 | TLKRGTQITLY | 1 | Caenorhabditis elegans | V211 | ADKVIVTSKHN | 5 | Homo sapiens, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | V211 | ADRVVVTTKNN | 1 | Caenorhabditis elegans | V211 | ADRVIVTSKHN | 1 | Gallus gallus | W223 | DTQHIWESDSN | 6 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | W223 | DDQYIWESDSA | 1 | Caenorhabditis elegans | Y200 | FGVGFYSAFLV | 6 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus, Canis lupus familiaris, Bos taurus | Y200 | FGVGFYAAFLV | 1 | Caenorhabditis elegans |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |