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mutLBSgeneDB |
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| Gene summary for RPRD1B |
 Gene summary |
| Basic gene Info. | Gene symbol | RPRD1B |
| Gene name | regulation of nuclear pre-mRNA domain containing 1B | |
| Synonyms | C20orf77|CREPT|NET60|dJ1057B20.2 | |
| Cytomap | UCSC genome browser: 20q11.21-q12 | |
| Type of gene | protein-coding | |
| RefGenes | NM_021215.3, | |
| Description | cell cycle-related and expression-elevated protein in tumorcell-cycle related and expression-elevated protein in tumorregulation of nuclear pre-mRNA domain-containing protein 1B | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 614694 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000101413 | ||
| HPRD : 08513 | ||
| Vega : OTTHUMG00000032434 | ||
| Protein | UniProt: Q9NQG5 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_RPRD1B | |
| BioGPS: 58490 | ||
| Pathway | NCI Pathway Interaction Database: RPRD1B | |
| KEGG: RPRD1B | ||
| REACTOME: RPRD1B | ||
| Pathway Commons: RPRD1B | ||
| Context | iHOP: RPRD1B | |
| ligand binding site mutation search in PubMed: RPRD1B | ||
| UCL Cancer Institute: RPRD1B | ||
| 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:0008284 | positive regulation of cell proliferation | 22264791 | GO:0010564 | regulation of cell cycle process | 22264791 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 22264791 |
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| Ligand binding site mutations for RPRD1B |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | Q68 | I67M | BRCA | 1 | I110 | N109K | UCEC | 1 | N64 | A63V | 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 RPRD1B |
| 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 | Q68 | I67M | -1.0951767 | I110 | N109K | -0.53628889 | N64 | A63V | -0.50143028 |
| (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 RPRD1B from PDB |
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| Differential gene expression and gene-gene network for RPRD1B |
| 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 RPRD1B |
| 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 RPRD1B |
| 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 RPRD1B go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | III | Peptide ligand (BTN,SER,PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,NH2) | 4q96 | B | I110 | III | Peptide ligand (BTN,SER,PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,NH2) | 4q96 | B | I110 | III | Peptide ligand (BTN,SER,PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,NH2) | 4q96 | E | I110 | III | Peptide ligand (BTN,SER,PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,NH2) | 4q96 | E | I110 | III | Peptide ligand (SER,PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,NH2) | 4q94 | A | I110 | III | Peptide ligand (SER,PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,NH2) | 4q94 | B | I110 | III | Peptide ligand (BTN,SER,PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,NH2) | 4q96 | A | N64 Q68 | III | Peptide ligand (BTN,SER,PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,NH2) | 4q96 | D | N64 Q68 | III | Peptide ligand (SER,PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,NH2) | 4q94 | A | N64 Q68 | III | Peptide ligand (SER,PRO,SER,TYR,SER,PRO,THR,SER,PRO,SER,TYR,SER,NH2) | 4q94 | B | N64 Q68 |
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| Conservation information for LBS of RPRD1B |
| Multiple alignments for Q9NQG5 in multiple species |
| LBS | AA sequence | # species | Species |
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