|
mutLBSgeneDB |
| |
| |
| |
| |
| |
| |
|
| Gene summary for SPOP |
 Gene summary |
| Basic gene Info. | Gene symbol | SPOP |
| Gene name | speckle-type POZ protein | |
| Synonyms | BTBD32|TEF2 | |
| Cytomap | UCSC genome browser: 17q21.33 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001007226.1, NM_001007227.1,NM_001007228.1,NM_001007229.1,NM_001007230.1, NM_003563.3, | |
| Description | HIB homolog 1roadkill homolog 1 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 602650 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000121067 | ||
| HPRD : 16004 | ||
| Vega : OTTHUMG00000161496 | ||
| Protein | UniProt: O43791 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SPOP | |
| BioGPS: 8405 | ||
| Pathway | NCI Pathway Interaction Database: SPOP | |
| KEGG: SPOP | ||
| REACTOME: SPOP | ||
| Pathway Commons: SPOP | ||
| Context | iHOP: SPOP | |
| ligand binding site mutation search in PubMed: SPOP | ||
| UCL Cancer Institute: SPOP | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
| Top |
| Ligand binding site mutations for SPOP |
| 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 | F133 | F133L | PRAD | 3 | W131 | W131G | PRAD | 2 | M117 | M117V | UCEC | 2 | Q120 | R121Q | UCEC | 2 | Q120 | R121Q | LUAD | 1 | Y87 | Y87S | PRAD | 1 | F133 | F133C | PRAD | 1 | W131 | W131R | PRAD | 1 | C44,E46 | R45W | UCEC | 1 | E47 | E47A | UCEC | 1 | W131 | W131C | UCEC | 1 | F102 | K103N | UCEC | 1 | E46 | E46K | UCEC | 1 | L76 | E78K | UCEC | 1 | F102 | F104I | 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. |
| Clinical information for SPOP from My Cancer Genome. |
| Speckle-type POZ protein (SPOP) is a gene that encodes a protein that regulates the transcriptional repression carried out by death-associated protein 6 (DAXX). Missense mutations, nonsense mutations, silent mutations, frameshift insertions, and in-frame deletions are observed in cancers such as endometrial cancer, meningeal cancer, and prostate cancer.Modified: July 1, 2015 |
| Top |
| Protein structure related information for SPOP |
| 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 | E47 | E47A | -1.8458553 | W131 | W131G | -1.2828969 | F133 | F133C | -1.1322051 | Q120 | R121Q | -1.1111006 | F102 | K103N | -1.0846326 | Y87 | Y87S | -0.95418402 | W131 | W131C | -0.90969165 | W131 | W131R | -0.81115498 | M117 | M117V | -0.80039432 | L76 | E78K | -0.69616396 | F133 | F133L | -0.69484784 | E46 | E46K | -0.41914817 | F102 | F104I | -0.35312231 | E46 | R45W | -0.34362631 | C44 | R45W | -0.34362631 |
| (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 SPOP from PDB |
| PDB ID | PDB title | PDB structure | 2CR2 | Solution structure of N-terminal domain of speckle-type POZ protein |  |
| Top |
| Differential gene expression and gene-gene network for SPOP |
| 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 SPOP |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0014170 | Endometrial Neoplasms | 1 | Biomarker |
| umls:C0033578 | Prostatic Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
| 171600 | F133L | Uncertain significance | Somatic | MedGen:C0376358 OMIM:176807 Orphanet:ORPHA1331 SNOMED CT:399068003 |
| Top |
| Pharmacological information for SPOP |
| 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. |
 |
| 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 SPOP go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3hqh | A | C44 E46 E47 | ZN | ZINC(2+) | 3ivb | A | C44 E47 | III | Peptide ligand (CYS,ASP,GLU,VAL,THR,SER,THR,THR) | 3hql | A | L76 Y87 F102 M117 W131 F133 | III | Peptide ligand (PRO,ASP,VAL,SER,SER,SER,THR) | 3hqm | B | L76 Y87 F102 M117 W131 F133 | III | Peptide ligand (PRO,ASP,VAL,SER,SER,SER,THR,HIS) | 3ivq | A | L76 Y87 F102 Q120 W131 | III | Peptide ligand (GLU,VAL,THR,SER,THR,THR) | 3hqi | B | L76 Y87 F102 W131 F133 | III | Peptide ligand (PRO,ASP,VAL,SER,SER,SER,THR) | 3hqm | A | L76 Y87 M117 W131 F133 | III | Peptide ligand (GLU,VAL,THR,SER,THR,THR) | 3hu6 | B | L76 Y87 W131 | III | Peptide ligand (ASP,GLU,VAL,THR,SER,THR,THR) | 3hql | B | L76 Y87 W131 F133 | III | Peptide ligand (ASP,GLU,VAL,THR,SER,THR,THR,SER,SER,SER) | 3ivv | A | L76 Y87 W131 F133 | III | Peptide ligand (PRO,GLU,ALA,SER,SER,SER,THR) | 4o1v | A | L76 Y87 W131 F133 | III | Peptide ligand (PRO,ASP,VAL,SER,SER,SER,THR) | 3ivq | B | M117 W131 F133 | III | Peptide ligand (ALA,SER,ALA,ASP,SER,THR,THR,GLU,GLY) | 3hqh | A | Y87 F102 Q120 W131 F133 | III | Peptide ligand (ALA,SER,ALA,ASP,SER,THR,THR,GLU,GLY,THR,PRO) | 3ivb | A | Y87 F102 Q120 W131 F133 | III | Peptide ligand (GLU,VAL,THR,SER,THR,THR) | 3hqi | A | Y87 W131 F133 | III | Peptide ligand (GLU,VAL,THR,SER,THR,THR) | 3hu6 | A | Y87 W131 F133 |
| Top |
| Conservation information for LBS of SPOP |
| Multiple alignments for O43791 in multiple species |
| LBS | AA sequence | # species | Species | C44 | NNFSFCRE-EM | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | C44 | KGYSLAKGIGI | 1 | Arabidopsis thaliana | D130 | FVQGKDWGFKK | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | D130 | KYRGSMWGYKR | 1 | Arabidopsis thaliana | E113 | NAKGEET---- | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | E113 | NAKREET---- | 2 | Caenorhabditis elegans, Drosophila melanogaster | E113 | DQSGKGKHKVH | 1 | Arabidopsis thaliana | E118 | --KAMESQRAY | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | E118 | FDRALESGPYT | 1 | Arabidopsis thaliana | E160 | LTLFCEVSVVQ | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | E160 | LKINCTVGVVV | 1 | Arabidopsis thaliana | E160 | LSIFCEVSVVA | 1 | Caenorhabditis elegans | E160 | LTIFCEVSVVA | 1 | Drosophila melanogaster | E46 | FSFCRE-EMGE | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | E46 | YSLAKGIGIGK | 1 | Arabidopsis thaliana | E47 | FCRE-EMGEVI | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | E47 | FCRE-EMGEVL | 2 | Caenorhabditis elegans, Drosophila melanogaster | E47 | LAKGIGIGKHI | 1 | Arabidopsis thaliana | F102 | EVRAKFKFSIL | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | F102 | DVRALFELSLL | 1 | Arabidopsis thaliana | F133 | GKDWGFKKFIR | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | F133 | GSMWGYKRFFR | 1 | Arabidopsis thaliana | G128 | YRFVQGKDWGF | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | G128 | TLKYRGSMWGY | 1 | Arabidopsis thaliana | G132 | QGKDWGFKKFI | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | G132 | RGSMWGYKRFF | 1 | Arabidopsis thaliana | K129 | RFVQGKDWGFK | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | K129 | LKYRGSMWGYK | 1 | Arabidopsis thaliana | K134 | KDWGFKKFIRR | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | K134 | SMWGYKRFFRR | 1 | Arabidopsis thaliana | K135 | DWGFKKFIRRD | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | K135 | MWGYKRFFRR- | 1 | Arabidopsis thaliana | L76 | VNPKGLD-EES | 6 | Homo sapiens, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | L76 | FYPDGKNPEDN | 1 | Arabidopsis thaliana | L76 | INPKGLD-EES | 1 | Caenorhabditis elegans | M117 | ---KAMESQRA | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | M117 | HFDRALESGPY | 1 | Arabidopsis thaliana | Q120 | KAMESQRAYRF | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | Q120 | RALESGPYTLK | 1 | Arabidopsis thaliana | R124 | SQRAYRFVQGK | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | R124 | SGPYTLKYRGS | 1 | Arabidopsis thaliana | R70 | LKWCLRVNPKG | 6 | Homo sapiens, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | R70 | YQWAIYFYPDG | 1 | Arabidopsis thaliana | R70 | LKWCLRINPKG | 1 | Caenorhabditis elegans | S119 | -KAMESQRAYR | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | S119 | DRALESGPYTL | 1 | Arabidopsis thaliana | V126 | RAYRFVQGKDW | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | V126 | PYTLKYRGSMW | 1 | Arabidopsis thaliana | W131 | VQGKDWGFKKF | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | W131 | YRGSMWGYKRF | 1 | Arabidopsis thaliana | Y123 | ESQRAYRFVQG | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | Y123 | ESGPYTLKYRG | 1 | Arabidopsis thaliana | Y87 | DYLSLYLLLVS | 6 | Homo sapiens, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | Y87 | AYVSVFIALAS | 1 | Arabidopsis thaliana | Y87 | DYLSLYLLLVQ | 1 | Caenorhabditis elegans |
 |
Copyright © 2016-Present - The University of Texas Health Science Center at Houston |