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mutLBSgeneDB |
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| Gene summary for HOXB1 |
 Gene summary |
| Basic gene Info. | Gene symbol | HOXB1 |
| Gene name | homeobox B1 | |
| Synonyms | HCFP3|HOX2|HOX2I|Hox-2.9 | |
| Cytomap | UCSC genome browser: 17q21.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002144.3, | |
| Description | homeobox protein Hox-2Ihomeobox protein Hox-B1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 142968 | |
| HGNC : HGNC | ||
| HPRD : 00855 | ||
| Protein | UniProt: P14653 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HOXB1 | |
| BioGPS: 3211 | ||
| Pathway | NCI Pathway Interaction Database: HOXB1 | |
| KEGG: HOXB1 | ||
| REACTOME: HOXB1 | ||
| Pathway Commons: HOXB1 | ||
| Context | iHOP: HOXB1 | |
| ligand binding site mutation search in PubMed: HOXB1 | ||
| UCL Cancer Institute: HOXB1 | ||
| 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 HOXB1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R233 | R232Q | BLCA | 1 | K259 | R261H | KIRC | 1 | R233 | R233S | LUAD | 1 | M256 | M256I | LUAD | 1 | Q246 | E244K | SKCM | 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 HOXB1 |
| 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 | R233 | R232Q | -1.2315194 | Q246 | E244K | -1.0324531 | K259 | R261H | -1.0096639 | M256 | M256I | -0.9622457 | R233 | R233S | -0.7977343 |
| (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 HOXB1 from PDB |
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| Differential gene expression and gene-gene network for HOXB1 |
| 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 HOXB1 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3553625 | FACIAL PARESIS, HEREDITARY CONGENITAL, 3 | 1 | GeneticVariation |
| umls:C0376634 | Craniofacial Abnormalities | 1 | Biomarker |
| umls:C1858717 | Facial paresis, hereditary, congenital | 1 | Biomarker |
| umls:C0497552 | Nervous System Malformations | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for HOXB1 |
| 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 HOXB1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 1b72 | A | Q246 | NUC | Nucleic Acids | 1b72 | A | R233 M256 K259 |
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| Conservation information for LBS of HOXB1 |
| Multiple alignments for P14653 in multiple species |
| LBS | AA sequence | # species | Species | F210 | GLRTNFTTRQL | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | I249 | ETQVKIWFQNR | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | K248 | NETQVKIWFQN | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | K257 | QNRRMKQKKRE | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | K259 | RRMKQKKRERE | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | M256 | FQNRRMKQKKR | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | N253 | KIWFQNRRMKQ | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | Q246 | ELNETQVKIWF | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | Q252 | VKIWFQNRRMK | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | R207 | SPSGLRTNFTT | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | R207 | APGGLRTNFTT | 1 | Mus musculus | R233 | LSRARRVEIAA | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | R255 | WFQNRRMKQKK | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | T208 | PSGLRTNFTTR | 3 | Homo sapiens, Pan troglodytes, Macaca mulatta | T208 | PGGLRTNFTTR | 1 | Mus musculus | W250 | TQVKIWFQNRR | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta | Y227 | FHFNKYLSRAR | 4 | Homo sapiens, Mus musculus, Pan troglodytes, Macaca mulatta |
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