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mutLBSgeneDB |
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| Gene summary for SEPHS1 |
 Gene summary |
| Basic gene Info. | Gene symbol | SEPHS1 |
| Gene name | selenophosphate synthetase 1 | |
| Synonyms | SELD|SPS|SPS1 | |
| Cytomap | UCSC genome browser: 10p14 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001195602.1, NM_001195604.1,NM_012247.4, | |
| Description | selenide, water dikinase 1selenium donor protein 1selenophosphate synthase 1selenophosphate synthetase 1 +E9selenophosphate synthetase 1 +E9aselenophosphate synthetase 1 delta E2selenophosphate synthetase 1 delta E8selenophosphate synthetase 1 majo | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 600902 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000086475 | ||
| HPRD : 02944 | ||
| Vega : OTTHUMG00000017696 | ||
| Protein | UniProt: P49903 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SEPHS1 | |
| BioGPS: 22929 | ||
| Pathway | NCI Pathway Interaction Database: SEPHS1 | |
| KEGG: SEPHS1 | ||
| REACTOME: SEPHS1 | ||
| Pathway Commons: SEPHS1 | ||
| Context | iHOP: SEPHS1 | |
| ligand binding site mutation search in PubMed: SEPHS1 | ||
| UCL Cancer Institute: SEPHS1 | ||
| 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 |
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| Ligand binding site mutations for SEPHS1 |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | L38 | K40E | COAD | 1 | K32 | G30D | COAD | 1 | I66 | G65C | LUAD | 1 | V159 | S158Y | LUSC | 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 SEPHS1 |
| 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 | I66 | G65C | -0.65880841 | K32 | G30D | -0.52444053 | L38 | K40E | -0.40720328 | V159 | S158Y | -0.065366385 |
| (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 SEPHS1 from PDB |
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| Differential gene expression and gene-gene network for SEPHS1 |
| 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 SEPHS1 |
| 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 SEPHS1 |
| 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 SEPHS1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PO4 | PHOSPHATE ION | 3fd5 | A | K32 | PO4 | PHOSPHATE ION | 3fd5 | B | K32 | PO4 | PHOSPHATE ION | 3fd6 | A | K32 | ADP | ADP | 3fd6 | B | K32 | PO4 | PHOSPHATE ION | 3fd6 | B | K32 | AP2 | ADENOSINE 5'-METHYLENEDIPHOSPHATE | 3fd5 | A | K32 L38 | AP2 | ADENOSINE 5'-METHYLENEDIPHOSPHATE | 3fd5 | B | K32 L38 | ADP | ADP | 3fd6 | A | K32 L38 I66 | AP2 | ADENOSINE 5'-METHYLENEDIPHOSPHATE | 3fd5 | A | V159 | AP2 | ADENOSINE 5'-METHYLENEDIPHOSPHATE | 3fd5 | B | V159 | ADP | ADP | 3fd6 | A | V159 | ADP | ADP | 3fd6 | B | V159 |
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| Conservation information for LBS of SEPHS1 |
| Multiple alignments for P49903 in multiple species |
| LBS | AA sequence | # species | Species | D110 | ANVLSDLYAMG | 7 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | D265 | AHAATDITGFG | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | D265 | AHSSTDVTGFG | 1 | Caenorhabditis elegans | D265 | AHGATDITGFG | 1 | Drosophila melanogaster | D69 | LGIGMDTCVIP | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | D69 | VDIGLDSCVIP | 1 | Caenorhabditis elegans | D69 | IGIGLDCSVIP | 1 | Drosophila melanogaster | D87 | LVQTTDYIYPI | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | D87 | LVQTTDFFYPL | 1 | Caenorhabditis elegans | D87 | LVQTTDFFYPI | 1 | Drosophila melanogaster | F269 | TDITGFGILGH | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | F269 | TDVTGFGLLGH | 1 | Caenorhabditis elegans | F269 | TDITGFGLLGH | 1 | Drosophila melanogaster | G161 | GTSVTGGQTVL | 4 | Homo sapiens, Bos taurus, Mus musculus, Xenopus tropicalis | G161 | GTKIRGGQTVR | 1 | Caenorhabditis elegans | G161 | GTTVTGGQSVV | 1 | Drosophila melanogaster | G161 | GTSVTGGQTVI | 1 | Danio rerio | G162 | TSVTGGQTVLN | 4 | Homo sapiens, Bos taurus, Mus musculus, Xenopus tropicalis | G162 | TKIRGGQTVRC | 1 | Caenorhabditis elegans | G162 | TTVTGGQSVVN | 1 | Drosophila melanogaster | G162 | TSVTGGQTVIN | 1 | Danio rerio | G268 | ATDITGFGILG | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | G268 | STDVTGFGLLG | 1 | Caenorhabditis elegans | G268 | ATDITGFGLLG | 1 | Drosophila melanogaster | G67 | PRLGIGMDTCV | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | G67 | -EVDIGLDSCV | 1 | Caenorhabditis elegans | G67 | PRIGIGLDCSV | 1 | Drosophila melanogaster | H274 | FGILGHAQNLA | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | H274 | FGLLGHAENLA | 1 | Caenorhabditis elegans | H274 | FGLLGHAQTLA | 1 | Drosophila melanogaster | I66 | MPRLGIGMDTC | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | I66 | --EVDIGLDSC | 1 | Caenorhabditis elegans | I66 | IPRIGIGLDCS | 1 | Drosophila melanogaster | K32 | KGTGCKVPQDV | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | K32 | KGCGCKVPRNV | 1 | Caenorhabditis elegans | K32 | KGRGCKVPQDV | 1 | Drosophila melanogaster | L126 | NMLMLLGVSNK | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | L126 | NMLMLLAVAID | 1 | Caenorhabditis elegans | L126 | NMLMLLAVSTK | 1 | Drosophila melanogaster | L38 | VPQDVLQKLLE | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | L38 | VPRNVLLQLLQ | 1 | Caenorhabditis elegans | L38 | VPQDVLSKLVS | 1 | Drosophila melanogaster | M124 | CDNMLMLLGVS | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | M124 | CDNMLMLLAVA | 1 | Caenorhabditis elegans | M124 | CDNMLMLLAVS | 1 | Drosophila melanogaster | M68 | RLGIGMDTCVI | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | M68 | EVDIGLDSCVI | 1 | Caenorhabditis elegans | M68 | RIGIGLDCSVI | 1 | Drosophila melanogaster | N106 | RIACANVLSDL | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | N106 | RVTCANVLSDL | 1 | Caenorhabditis elegans | N106 | KIACANVLSDL | 1 | Drosophila melanogaster | Q163 | SVTGGQTVLNP | 4 | Homo sapiens, Bos taurus, Mus musculus, Xenopus tropicalis | Q163 | KIRGGQTVRCP | 1 | Caenorhabditis elegans | Q163 | TVTGGQSVVNP | 1 | Drosophila melanogaster | Q163 | SVTGGQTVINP | 1 | Danio rerio | T164 | VTGGQTVLNPW | 4 | Homo sapiens, Bos taurus, Mus musculus, Xenopus tropicalis | T164 | IRGGQTVRCPW | 1 | Caenorhabditis elegans | T164 | VTGGQSVVNPW | 1 | Drosophila melanogaster | T164 | VTGGQTVINPW | 1 | Danio rerio | T267 | AATDITGFGIL | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | T267 | SSTDVTGFGLL | 1 | Caenorhabditis elegans | T267 | GATDITGFGLL | 1 | Drosophila melanogaster | T70 | GIGMDTCVIPL | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | T70 | DIGLDSCVIPL | 1 | Caenorhabditis elegans | T70 | GIGLDCSVIPL | 1 | Drosophila melanogaster | T85 | LSLVQTTDYIY | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | T85 | LRLVQTTDFFY | 1 | Caenorhabditis elegans | T85 | LCLVQTTDFFY | 1 | Drosophila melanogaster | T86 | SLVQTTDYIYP | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | T86 | RLVQTTDFFYP | 1 | Caenorhabditis elegans | T86 | CLVQTTDFFYP | 1 | Drosophila melanogaster | V159 | EAGTSVTGGQT | 5 | Homo sapiens, Danio rerio, Bos taurus, Mus musculus, Xenopus tropicalis | V159 | EAGTKIRGGQT | 1 | Caenorhabditis elegans | V159 | EAGTTVTGGQS | 1 | Drosophila melanogaster |
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