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mutLBSgeneDB |
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| Gene summary for DLX5 |
 Gene summary |
| Basic gene Info. | Gene symbol | DLX5 |
| Gene name | distal-less homeobox 5 | |
| Synonyms | SHFM1D | |
| Cytomap | UCSC genome browser: 7q22 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005221.5, | |
| Description | distal-less homeo box 5homeobox protein DLX-5split hand/foot malformation type 1 with sensorineural hearing loss | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600028 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000105880 | ||
| HPRD : 02492 | ||
| Vega : OTTHUMG00000154200 | ||
| Protein | UniProt: P56178 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_DLX5 | |
| BioGPS: 1749 | ||
| Pathway | NCI Pathway Interaction Database: DLX5 | |
| KEGG: DLX5 | ||
| REACTOME: DLX5 | ||
| Pathway Commons: DLX5 | ||
| Context | iHOP: DLX5 | |
| ligand binding site mutation search in PubMed: DLX5 | ||
| UCL Cancer Institute: DLX5 | ||
| 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 | GO:0008283 | cell proliferation | 19497851 | GO:0045893 | positive regulation of transcription, DNA-templated | 19497851 |
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| Ligand binding site mutations for DLX5 |
| 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. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R167 | R167H | COAD | 2 | K182 | K182N | COAD | 1 | R138 | R138H | COAD | 1 | Y161 | Q160K | LUAD | 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 DLX5 |
| 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 |
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| 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 | R138 | R138H | -1.3424998 | R167 | R167H | -1.3298704 | Y161 | Q160K | -0.68924409 | K182 | K182N | -0.41781918 |
| (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 DLX5 from PDB |
| PDB ID | PDB title | PDB structure | 4RDU | Crystal structure of a distal-less homeobox protein 5 (Dlx5) from Homo sapiens at 1.85 A resolution |  |
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| Differential gene expression and gene-gene network for DLX5 |
| 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 DLX5 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0376634 | Craniofacial Abnormalities | 4 | Biomarker |
| umls:C2931019 | Split hand foot deformity 1 | 3 | Biomarker, GeneticVariation |
| umls:C1857344 | Split-Hand/Foot Malformation With Sensorineural Hearing Loss | 1 | GeneticVariation |
| umls:C0005941 | Bone Diseases, Developmental | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for DLX5 |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of DLX5 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 4rdu | A | R138 | NUC | Nucleic Acids | 4rdu | D | R138 | NUC | Nucleic Acids | 4rdu | A | R138 Y161 R167 K182 | NUC | Nucleic Acids | 4rdu | D | Y161 |
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| Conservation information for LBS of DLX5 |
| Multiple alignments for P56178 in multiple species |
| LBS | AA sequence | # species | Species | I143 | RKPRTIYSSFQ | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | I183 | QTQVKIWFQNK | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K139 | PKKVRKPRTIY | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K182 | TQTQVKIWFQN | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K191 | QNKRSKIKKIM | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | K193 | KRSKIKKIMKN | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | N187 | KIWFQNKRSKI | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | Q186 | VKIWFQNKRSK | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R138 | KPKKVRKPRTI | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R141 | KVRKPRTIYSS | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R167 | LALPERAELAA | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | R189 | WFQNKRSKIKK | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | T142 | VRKPRTIYSSF | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | W184 | TQVKIWFQNKR | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | Y144 | KPRTIYSSFQL | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus | Y161 | FQKTQYLALPE | 4 | Homo sapiens, Gallus gallus, Mus musculus, Rattus norvegicus |
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