|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for 730268 |
 Gene summary |
| Basic gene Info. | Gene symbol | 730268 |
| Gene name | ||
| Synonyms | ||
| Cytomap | UCSC genome browser: | |
| Type of gene | ||
| RefGenes | ||
| Description | ||
| Modification date | ||
| dbXrefs | ||
| Protein | UniProt: Q9H1A4 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_730268 | |
| BioGPS: 730268 | ||
| Pathway | NCI Pathway Interaction Database: 730268 | |
| KEGG: 730268 | ||
| REACTOME: 730268 | ||
| Pathway Commons: 730268 | ||
| Context | iHOP: 730268 | |
| ligand binding site mutation search in PubMed: 730268 | ||
| UCL Cancer Institute: 730268 | ||
| 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 730268 |
| 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 730268 |
| 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 | M1652 | L1651F | -1.606844 | M1652 | A1653V | -0.73579979 |
| (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 730268 from PDB |
| Top |
| Differential gene expression and gene-gene network for 730268 |
| 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 730268 |
| 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 730268 |
| 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 730268 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (ALA,ALA,ALA,ALA,ALA,GLN,LEU,ALA,ALA,ALA,ALA,ALA,ALA,ALA,ALA,ALA,ALA,ALA,ALA,ALA,ALA) | 4ui9 | A | M1652 |
| Top |
| Conservation information for LBS of 730268 |
| Multiple alignments for Q9H1A4 in multiple species |
| LBS | AA sequence | # species | Species | E1480 | RFAGSENLSAF | 2 | Homo sapiens, Mus musculus | E1480 | RFAGTRDGNAR | 1 | Arabidopsis thaliana | E1649 | YEQTKEELMAP | 2 | Homo sapiens, Mus musculus | E1649 | YSETKFCEITP | 1 | Arabidopsis thaliana | L1420 | LWDDILPNSKW | 2 | Homo sapiens, Mus musculus | L1420 | MWSRICPTCDW | 1 | Arabidopsis thaliana | L1482 | AGSENLSAFNC | 1 | Homo sapiens | L1482 | AGTRDGNARDL | 1 | Arabidopsis thaliana | L1482 | AGSENLSAFSC | 1 | Mus musculus | M1652 | TKEELMAPTLL | 2 | Homo sapiens, Mus musculus | M1652 | TKFCEITPCIL | 1 | Arabidopsis thaliana | N1320 | GMSDLNVPEQL | 2 | Homo sapiens, Mus musculus | N1320 | GSMD-SLVNRL | 1 | Arabidopsis thaliana | N1481 | FAGSENLSAFN | 1 | Homo sapiens | N1481 | FAGTRDGNARD | 1 | Arabidopsis thaliana | N1481 | FAGSENLSAFS | 1 | Mus musculus | P1322 | SDLNVPEQLYQ | 2 | Homo sapiens, Mus musculus | P1322 | MD-SLVNRLLL | 1 | Arabidopsis thaliana | P1421 | WDDILPNSKWV | 2 | Homo sapiens, Mus musculus | P1421 | WSRICPTCDWI | 1 | Arabidopsis thaliana | S1317 | NLIGMSDLNVP | 2 | Homo sapiens, Mus musculus | S1317 | DALGSMD-SLV | 1 | Arabidopsis thaliana | T1647 | QWYEQTKEELM | 2 | Homo sapiens, Mus musculus | T1647 | KLYSETKFCEI | 1 | Arabidopsis thaliana | W1386 | RSIADWLRAPD | 2 | Homo sapiens, Mus musculus | W1386 | EVIFSKLSIPQ | 1 | Arabidopsis thaliana |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |