mutLBSgeneDB |
Gene summary for DLX3 |
Gene summary |
Basic gene Info. | Gene symbol | DLX3 |
Gene name | distal-less homeobox 3 | |
Synonyms | AI4|TDO | |
Cytomap | UCSC genome browser: 17q21 | |
Type of gene | protein-coding | |
RefGenes | NM_005220.2, | |
Description | homeobox protein DLX-3 | |
Modification date | 20141207 | |
dbXrefs | MIM : 600525 | |
HGNC : HGNC | ||
Ensembl : ENSG00000064195 | ||
HPRD : 02752 | ||
Vega : OTTHUMG00000161892 | ||
Protein | UniProt: O60479 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_DLX3 | |
BioGPS: 1747 | ||
Pathway | NCI Pathway Interaction Database: DLX3 | |
KEGG: DLX3 | ||
REACTOME: DLX3 | ||
Pathway Commons: DLX3 | ||
Context | iHOP: DLX3 | |
ligand binding site mutation search in PubMed: DLX3 | ||
UCL Cancer Institute: DLX3 | ||
Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. |
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 DLX3 |
Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.) : non-synonymous mutation on LBS, Circle size denotes number of samples. |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | R180 | R180H | COAD | 1 | Q178,W176 | F177Y | KIRC | 1 | T134 | T134M | STAD | 1 | R181 | R181S | STAD | 1 | K183 | K185N | UCEC | 1 |
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 DLX3 |
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 | R181 | R181S | -1.4532748 | W176 | F177Y | -1.0156927 | Q178 | F177Y | -1.0156927 | K183 | K185N | -0.79717556 | T134 | T134M | -0.61786555 | R180 | R180H | -0.57454369 |
(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 DLX3 from PDB |
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Differential gene expression and gene-gene network for DLX3 |
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 DLX3 |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0265333 | Tricho-dento-osseous syndrome | 12 | Biomarker, GeneticVariation |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for DLX3 |
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 DLX3 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4xrs | I | Q178 R181 | NUC | Nucleic Acids | 4xrs | G | R181 | NUC | Nucleic Acids | 4xrs | G | T134 W176 K183 | NUC | Nucleic Acids | 4xrs | I | W176 R180 |
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Conservation information for LBS of DLX3 |
Multiple alignments for O60479 in multiple species |
LBS | AA sequence | # species | Species |
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