mutLBSgeneDB |
Gene summary for 646817 |
Gene summary |
Basic gene Info. | Gene symbol | 646817 |
Gene name | ||
Synonyms | ||
Cytomap | UCSC genome browser: | |
Type of gene | ||
RefGenes | ||
Description | ||
Modification date | ||
dbXrefs | ||
Protein | UniProt: Q01105 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_646817 | |
BioGPS: 646817 | ||
Pathway | NCI Pathway Interaction Database: 646817 | |
KEGG: 646817 | ||
REACTOME: 646817 | ||
Pathway Commons: 646817 | ||
Context | iHOP: 646817 | |
ligand binding site mutation search in PubMed: 646817 | ||
UCL Cancer Institute: 646817 | ||
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 646817 |
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 646817 |
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 | R77 | R77C | -0.88368247 | N74 | Y73C | -0.71329238 | I66 | E65D | -0.58407881 |
(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 646817 from PDB |
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Differential gene expression and gene-gene network for 646817 |
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 646817 |
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 646817 |
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 646817 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 646817 |
Multiple alignments for Q01105 in multiple species |
LBS | AA sequence | # species | Species | A62 | RLNEQASEEIL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A62 | KINEKASDEVL | 2 | Arabidopsis thaliana, Arabidopsis thaliana | A62 | KVNEEASDKVL | 1 | Oryza sativa subsp. japonica | A62 | KVNEEACDKVL | 1 | Oryza sativa subsp. japonica | A62 | ALNEKASEEIL | 1 | Drosophila melanogaster | D223 | GEVIKDDIWPN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D223 | ADIIKEDLWPN | 1 | Arabidopsis thaliana | D223 | ADIIKEDLWSN | 1 | Arabidopsis thaliana | D223 | AEIIKEDLWPN | 1 | Oryza sativa subsp. japonica | D223 | ADVIKEDLWPN | 1 | Oryza sativa subsp. japonica | D223 | AELIKDDLWPN | 1 | Drosophila melanogaster | E127 | RVEVTEFEDIK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E127 | SLDVEDAKDVK | 1 | Arabidopsis thaliana | E127 | SLEVEDAKDVK | 1 | Arabidopsis thaliana | E127 | SVDVDDSKDVK | 1 | Oryza sativa subsp. japonica | E127 | SIDVDDSEDIK | 1 | Oryza sativa subsp. japonica | E127 | KLEVEEFEDIK | 1 | Drosophila melanogaster | F81 | LRQPFFQKRSE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F81 | IRKPVYDKRNE | 2 | Arabidopsis thaliana, Arabidopsis thaliana | F81 | IRRPVYLRRSD | 1 | Oryza sativa subsp. japonica | F81 | VRRPVYVRRNK | 1 | Oryza sativa subsp. japonica | F81 | LRKPCYEKRSE | 1 | Drosophila melanogaster | I66 | QASEEILKVEQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I66 | KASDEVLEVEQ | 2 | Arabidopsis thaliana, Arabidopsis thaliana | I66 | EASDKVLEVEQ | 1 | Oryza sativa subsp. japonica | I66 | EACDKVLELEQ | 1 | Oryza sativa subsp. japonica | I66 | KASEEILKVEQ | 1 | Drosophila melanogaster | K222 | LGEVIKDDIWP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K222 | VADIIKEDLWP | 1 | Arabidopsis thaliana | K222 | VADIIKEDLWS | 1 | Arabidopsis thaliana | K222 | VAEIIKEDLWP | 1 | Oryza sativa subsp. japonica | K222 | VADVIKEDLWP | 1 | Oryza sativa subsp. japonica | K222 | IAELIKDDLWP | 1 | Drosophila melanogaster | N59 | EIDRLNEQASE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N59 | DLEKINEKASD | 2 | Arabidopsis thaliana, Arabidopsis thaliana | N59 | ELEKVNEEASD | 1 | Oryza sativa subsp. japonica | N59 | EIEKVNEEACD | 1 | Oryza sativa subsp. japonica | N59 | EIDALNEKASE | 1 | Drosophila melanogaster | N74 | VEQKYNKLRQP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N74 | VEQKYNVIRKP | 2 | Arabidopsis thaliana, Arabidopsis thaliana | N74 | VEQKYSEIRRP | 1 | Oryza sativa subsp. japonica | N74 | LEQKYNEVRRP | 1 | Oryza sativa subsp. japonica | N74 | VEQKYNKLRKP | 1 | Drosophila melanogaster | P227 | KDDIWPNPLQY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P227 | KEDLWPNPLKY | 2 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | P227 | KEDLWPNPLTY | 1 | Arabidopsis thaliana | P227 | KEDLWSNPLTY | 1 | Arabidopsis thaliana | P227 | KDDLWPNPLQY | 1 | Drosophila melanogaster | Q78 | YNKLRQPFFQK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q78 | YNVIRKPVYDK | 2 | Arabidopsis thaliana, Arabidopsis thaliana | Q78 | YSEIRRPVYLR | 1 | Oryza sativa subsp. japonica | Q78 | YNEVRRPVYVR | 1 | Oryza sativa subsp. japonica | Q78 | YNKLRKPCYEK | 1 | Drosophila melanogaster | R77 | KYNKLRQPFFQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R77 | KYNVIRKPVYD | 2 | Arabidopsis thaliana, Arabidopsis thaliana | R77 | KYSEIRRPVYL | 1 | Oryza sativa subsp. japonica | R77 | KYNEVRRPVYV | 1 | Oryza sativa subsp. japonica | R77 | KYNKLRKPCYE | 1 | Drosophila melanogaster | S63 | LNEQASEEILK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S63 | INEKASDEVLE | 2 | Arabidopsis thaliana, Arabidopsis thaliana | S63 | VNEEASDKVLE | 1 | Oryza sativa subsp. japonica | S63 | VNEEACDKVLE | 1 | Oryza sativa subsp. japonica | S63 | LNEKASEEILK | 1 | Drosophila melanogaster | W226 | IKDDIWPNPLQ | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W226 | IKEDLWPNPLK | 2 | Oryza sativa subsp. japonica, Oryza sativa subsp. japonica | W226 | IKEDLWPNPLT | 1 | Arabidopsis thaliana | W226 | IKEDLWSNPLT | 1 | Arabidopsis thaliana | W226 | IKDDLWPNPLQ | 1 | Drosophila melanogaster |
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