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mutLBSgeneDB |
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| Gene summary for POU6F1 |
 Gene summary |
| Basic gene Info. | Gene symbol | POU6F1 |
| Gene name | POU class 6 homeobox 1 | |
| Synonyms | BRN5|MPOU|TCFB1 | |
| Cytomap | UCSC genome browser: 12q13.13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_002702.3, NR_026893.1, | |
| Description | POU domain, class 6, transcription factor 1brain-5brain-specific homeobox/POU domain protein 5brn-5mPOU homeobox protein | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| HPRD : 17883 | ||
| Protein | UniProt: Q14863 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_POU6F1 | |
| BioGPS: 5463 | ||
| Pathway | NCI Pathway Interaction Database: POU6F1 | |
| KEGG: POU6F1 | ||
| REACTOME: POU6F1 | ||
| Pathway Commons: POU6F1 | ||
| Context | iHOP: POU6F1 | |
| ligand binding site mutation search in PubMed: POU6F1 | ||
| UCL Cancer Institute: POU6F1 | ||
| 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 POU6F1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | R235 | R235H | BRCA | 1 | N284 | R285Q | LUSC | 1 | N284 | R285W | SKCM | 1 | K269 | E270K | SKCM | 1 | R235 | R235H | 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 POU6F1 |
| 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 | R235 | R235H | -1.2775357 | N284 | R285Q | -0.86857008 | K269 | E270K | -0.68445261 | N284 | R285W | -0.52753625 |
| (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 POU6F1 from PDB |
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| Differential gene expression and gene-gene network for POU6F1 |
| 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 POU6F1 |
| 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 POU6F1 |
| 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 POU6F1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NUC | Nucleic Acids | 3d1n | L | K269 | NUC | Nucleic Acids | 3d1n | I | R235 | NUC | Nucleic Acids | 3d1n | K | R235 | NUC | Nucleic Acids | 3d1n | K | R235 | NUC | Nucleic Acids | 3d1n | M | R235 | NUC | Nucleic Acids | 3d1n | O | R235 | NUC | Nucleic Acids | 3d1n | I | R235 N284 | NUC | Nucleic Acids | 3d1n | M | R235 N284 | NUC | Nucleic Acids | 3d1n | O | R235 N284 |
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| Conservation information for LBS of POU6F1 |
| Multiple alignments for Q14863 in multiple species |
| LBS | AA sequence | # species | Species | A179 | ATEGPAYSQSA | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | F241 | KRRTSFTPQAI | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | K155 | FAKNFKIRRLS | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | K190 | ICRFEKLDITP | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | K236 | PSKKRKRRTSF | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | K269 | ITEIAKELNYD | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | N284 | RVWFCNRRQTL | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | P178 | TATEGPAYSQS | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | Q165 | SLGLTQTQVGQ | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | Q287 | FCNRRQTLKNT | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | R158 | NFKIRRLSLGL | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | R187 | QSAICRFEKLD | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | R235 | EPSKKRKRRTS | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | R237 | SKKRKRRTSFT | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | R238 | KKRKRRTSFTP | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | S181 | EGPAYSQSAIC | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | S240 | RKRRTSFTPQA | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | T164 | LSLGLTQTQVG | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | T166 | LGLTQTQVGQA | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | T239 | KRKRRTSFTPQ | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus |
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