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mutLBSgeneDB |
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| Gene summary for RNPS1 |
 Gene summary |
| Basic gene Info. | Gene symbol | RNPS1 |
| Gene name | RNA binding protein S1, serine-rich domain | |
| Synonyms | E5.1 | |
| Cytomap | UCSC genome browser: 16p13.3 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001286625.1, NM_001286626.1,NM_001286627.1,NM_006711.4,NM_080594.3, NR_104485.1, | |
| Description | RNA-binding protein S1, serine-rich domainRNA-binding protein with serine-rich domain 1SR proteinSR-related protein LDC2 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606447 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000205937 | ||
| HPRD : 07341 | ||
| Vega : OTTHUMG00000128828 | ||
| Protein | UniProt: Q15287 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RNPS1 | |
| BioGPS: 10921 | ||
| Pathway | NCI Pathway Interaction Database: RNPS1 | |
| KEGG: RNPS1 | ||
| REACTOME: RNPS1 | ||
| Pathway Commons: RNPS1 | ||
| Context | iHOP: RNPS1 | |
| ligand binding site mutation search in PubMed: RNPS1 | ||
| UCL Cancer Institute: RNPS1 | ||
| 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 | GO:0000184 | nuclear-transcribed mRNA catabolic process, nonsense-mediated decay | 11546874 | GO:0043065 | positive regulation of apoptotic process | 12665594 | GO:0048025 | negative regulation of mRNA splicing, via spliceosome | 12665594 |
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| Ligand binding site mutations for RNPS1 |
| 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 | Y184 | G185R | BLCA | 1 | K221 | A219V | STAD | 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 RNPS1 |
| 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 | Y184 | G185R | -0.64871067 | K221 | A219V | -0.12391519 |
| (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 RNPS1 from PDB |
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| Differential gene expression and gene-gene network for RNPS1 |
| 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 RNPS1 |
| 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 RNPS1 |
| 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 RNPS1 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (LEU,LEU,ASP,ASP,LEU,PHE,ARG,LYS,THR,LYS,GLY,THR,PRO,CYS,ILE,TYR,TRP,LEU,PRO,LEU,THR,PRO,GLU,ALA,ILE,ALA,GLU) | 4a8x | A | Y184 K221 |
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| Conservation information for LBS of RNPS1 |
| Multiple alignments for Q15287 in multiple species |
| LBS | AA sequence | # species | Species | D224 | ALKHMDGGQID | 6 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Danio rerio, Xenopus tropicalis | D229 | DGGQIDGQEIT | 6 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Danio rerio, Xenopus tropicalis | E179 | KDHIMEIFSTY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | E179 | KDHIQEIFATY | 1 | Danio rerio | E179 | KDHILEIFSTY | 1 | Xenopus tropicalis | G225 | LKHMDGGQIDG | 6 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Danio rerio, Xenopus tropicalis | G226 | KHMDGGQIDGQ | 6 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Danio rerio, Xenopus tropicalis | H176 | NVTKDHIMEIF | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H176 | NVTKDHIQEIF | 1 | Danio rerio | H176 | NVTKDHILEIF | 1 | Xenopus tropicalis | H222 | EKALKHMDGGQ | 5 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis | H222 | QKALKHMDGGQ | 1 | Danio rerio | I180 | DHIMEIFSTYG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | I180 | DHIQEIFATYG | 1 | Danio rerio | I180 | DHILEIFSTYG | 1 | Xenopus tropicalis | I228 | MDGGQIDGQEI | 6 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Danio rerio, Xenopus tropicalis | K221 | AEKALKHMDGG | 5 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis | K221 | AQKALKHMDGG | 1 | Danio rerio | M223 | KALKHMDGGQI | 6 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Danio rerio, Xenopus tropicalis | Q227 | HMDGGQIDGQE | 6 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Danio rerio, Xenopus tropicalis | T183 | MEIFSTYGKIK | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | T183 | QEIFATYGKIK | 1 | Danio rerio | T183 | LEIFSTYGKIK | 1 | Xenopus tropicalis | V172 | RLTRNVTKDHI | 6 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Danio rerio, Xenopus tropicalis | Y184 | EIFSTYGKIKM | 5 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus, Xenopus tropicalis | Y184 | EIFATYGKIKM | 1 | Danio rerio |
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