mutLBSgeneDB |
Gene summary for 693221 |
Gene summary |
Basic gene Info. | Gene symbol | 693221 |
Gene name | ||
Synonyms | ||
Cytomap | UCSC genome browser: | |
Type of gene | ||
RefGenes | ||
Description | ||
Modification date | ||
dbXrefs | ||
Protein | UniProt: Q01130 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_693221 | |
BioGPS: 693221 | ||
Pathway | NCI Pathway Interaction Database: 693221 | |
KEGG: 693221 | ||
REACTOME: 693221 | ||
Pathway Commons: 693221 | ||
Context | iHOP: 693221 | |
ligand binding site mutation search in PubMed: 693221 | ||
UCL Cancer Institute: 693221 | ||
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 693221 |
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 693221 |
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 | Y50 | T51I | -0.61219961 |
(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 693221 from PDB |
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Differential gene expression and gene-gene network for 693221 |
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 693221 |
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 693221 |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of 693221 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 2leb | A | Y50 |
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Conservation information for LBS of 693221 |
Multiple alignments for Q01130 in multiple species |
LBS | AA sequence | # species | Species | A90 | LRVQMARYGRP | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | D42 | YGRVGDVYIPR | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | D48 | VYIPRDRYTKE | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | F57 | KESRGFAFVRF | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | F59 | SRGFAFVRFHD | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | G4 | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | G56 | TKESRGFAFVR | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | G93 | QMARYGRPPDS | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | H99 | RPPDSHHSRRG | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | K17 | GMTSLKVDNLT | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | M1 | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | M89 | ELRVQMARYGR | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | N20 | SLKVDNLTYRT | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | P46 | GDVYIPRDRYT | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | P6 | MSYGRPPPDVE | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | P95 | ARYGRPPDSHH | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | R49 | YIPRDRYTKES | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | R5 | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | R61 | GFAFVRFHDKR | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | R91 | RVQMARYGRPP | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | R94 | MARYGRPPDSH | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | S98 | GRPPDSHHSRR | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | V43 | GRVGDVYIPRD | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | Y3 | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | Y44 | RVGDVYIPRDR | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes | Y50 | IPRDRYTKESR | 6 | Homo sapiens, Gallus gallus, Bos taurus, Mus musculus, Rattus norvegicus, Pan troglodytes |
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