mutLBSgeneDB |
Gene summary for RQCD1 |
Gene summary |
Basic gene Info. | Gene symbol | RQCD1 |
Gene name | RCD1 required for cell differentiation1 homolog (S. pombe) | |
Synonyms | CNOT9|CT129|RCD-1|RCD1 | |
Cytomap | UCSC genome browser: 2q35 | |
Type of gene | protein-coding | |
RefGenes | NM_001271634.1, NM_001271635.1,NM_005444.2,NR_073390.1, | |
Description | CCR4-NOT transcription complex subunit 9cancer/testis antigen 129cell differentiation protein RCD1 homologprotein involved in sexual development | |
Modification date | 20141207 | |
dbXrefs | MIM : 612054 | |
HGNC : HGNC | ||
Ensembl : ENSG00000144580 | ||
HPRD : 08828 | ||
Vega : OTTHUMG00000154750 | ||
Protein | UniProt: Q92600 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_RQCD1 | |
BioGPS: 9125 | ||
Pathway | NCI Pathway Interaction Database: RQCD1 | |
KEGG: RQCD1 | ||
REACTOME: RQCD1 | ||
Pathway Commons: RQCD1 | ||
Context | iHOP: RQCD1 | |
ligand binding site mutation search in PubMed: RQCD1 | ||
UCL Cancer Institute: RQCD1 | ||
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:2000327 | positive regulation of ligand-dependent nuclear receptor transcription coactivator activity | 18180299 |
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Ligand binding site mutations for RQCD1 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | L168 | R169Q | COAD | 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 RQCD1 |
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 | L168 | R169Q | -0.98784314 |
(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 RQCD1 from PDB |
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Differential gene expression and gene-gene network for RQCD1 |
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 RQCD1 |
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 RQCD1 |
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 RQCD1 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | TRP | L-TRYPTOPHAN | 4crv | B | L168 |
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Conservation information for LBS of RQCD1 |
Multiple alignments for Q92600 in multiple species |
LBS | AA sequence | # species | Species | C200 | GLAYICQTYER | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus | C200 | GLQYICATLER | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | C200 | GLQYICQTYER | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D192 | QKILLDDTGLA | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus | D192 | QKILLDDVGLQ | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | D192 | QKFLCDDVGLQ | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | F206 | QTYERFSHVAM | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus | F206 | ATLERFYAVTN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F206 | QTYERFYAVAS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H208 | YERFSHVAMIL | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus | H208 | LERFYAVTNVL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | H208 | YERFYAVASVL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I164 | LTTEIIPLCLR | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus | I164 | LRTDIVPLCLR | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | I164 | LSTEIIPLCLR | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L168 | IIPLCLRIMES | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus | L168 | IVPLCLRIMES | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L168 | IIPLCLRIMEN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q152 | VKTDEQEVINF | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus | Q152 | VKNDSQDVITF | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Q152 | VKNDSPEVINF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R205 | CQTYERFSHVA | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus | R205 | CATLERFYAVT | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R205 | CQTYERFYAVA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R244 | LSDNPRAREAL | 6 | Homo sapiens, Schizosaccharomyces pombe (strain 972 / ATCC 24843), Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus | R244 | LSDDLEARRLL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | R244 | LSDNSRAREAL | 1 | Danio rerio | T202 | AYICQTYERFS | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus | T202 | QYICATLERFY | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | T202 | QYICQTYERFY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V209 | ERFSHVAMILG | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus | V209 | ERFYAVTNVLK | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | V209 | ERFYAVASVLN | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y198 | DTGLAYICQTY | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus | Y198 | DVGLQYICATL | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y198 | DVGLQYICQTY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y203 | YICQTYERFSH | 6 | Homo sapiens, Danio rerio, Xenopus tropicalis, Bos taurus, Mus musculus, Rattus norvegicus | Y203 | YICATLERFYA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | Y203 | YICQTYERFYA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) |
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