mutLBSgeneDB

mutLBSgeneDB
mutated Ligand Binding Site gene DataBase

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Gene Summary

Ligand Binding Site Mutation Information

Protein Structure Related Information

Gene Expression and Gene-Gene Network

Phenotype Information

Pharmacological Information

Conservation Information for LBS

Gene summary for CNOT1
Gene summary
Basic gene Info.Gene symbolCNOT1
Gene nameCCR4-NOT transcription complex, subunit 1
SynonymsCDC39|NOT1|NOT1H
CytomapUCSC genome browser: 16q21
Type of geneprotein-coding
RefGenesNM_001265612.1,
NM_016284.4,NM_206999.2,NR_049763.1,
DescriptionCCR4-NOT transcription complex subunit 1CCR4-associated factor 1NOT1 (negative regulator of transcription 1, yeast) homologadrenal gland protein AD-005negative regulator of transcription subunit 1 homolog
Modification date20141207
dbXrefs MIM : 604917
HGNC : HGNC
Ensembl : ENSG00000125107
HPRD : 11999
Vega : OTTHUMG00000133487
ProteinUniProt: A5YKK6
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_CNOT1
BioGPS: 23019
PathwayNCI Pathway Interaction Database: CNOT1
KEGG: CNOT1
REACTOME: CNOT1
Pathway Commons: CNOT1
ContextiHOP: CNOT1
ligand binding site mutation search in PubMed: CNOT1
UCL Cancer Institute: CNOT1
Assigned class in mutLBSgeneDBC: This gene just belongs to mutLBSgenes.

Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO TermPubMed ID
GO:0000122negative regulation of transcription from RNA polymerase II promoter16778766
GO:0010606positive regulation of cytoplasmic mRNA processing body assembly21976065
GO:0033147negative regulation of intracellular estrogen receptor signaling pathway16778766
GO:0048387negative regulation of retinoic acid receptor signaling pathway16778766
GO:0090503RNA phosphodiester bond hydrolysis, exonucleolytic21976065


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Ligand binding site mutations for CNOT1
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
LBSAAchange of nsSNVCancer type# samples
N849N849YBRCA1
M1M1VHNSC1
D845I844VKIRC1
P906P906SSKCM1
A848E847DSKCM1
K2331K2331QUCEC1
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 CNOT1
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.
LBSAAchange of nsSNVRelative stability change
D845I844V-1.4655679
A848E847D-1.3169343
P906P906S-1.1716206
K2331K2331Q-0.6925775
M1M1V-0.65705322
N849N849Y-0.34877229
(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 CNOT1 from PDB

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Differential gene expression and gene-gene network for CNOT1
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)
* Left PPI network was created from samples with mutations in the LBS of CNOT1 and the right PPI network was created from samples without mutations in the LBS of CNOT1. Only genes with p-value < 0.05 are shown.
Red circle: input gene. Orange circle: LBSgene. Blue circle: other gene.


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Phenotype information for CNOT1
Gene level disease information (DisGeNet)
Disease IDDisease name# PubMedAssociation type

Mutation level pathogenic information (ClinVar annotation)
Allele IDAA changeClinical significanceOriginPhenotype IDs

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Pharmacological information for CNOT1
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 statusDrugBank IDNameTypeDrug structure

Gene-centered ligand-gene interaction network

Ligands binding to mutated ligand binding site of CNOT1 go to BioLip
Ligand IDLigand short nameLigand long namePDB IDPDB namemutLBS
IIIPeptide ligand (PHE,SER,SER,TRP,ASN,ASP,TYR,LEU,GLY,LEU,ALA,THR,LEU,ILE,THR)4cqoAK2331
IIIPeptide ligand (PHE,SER,SER,TRP,ASN,ASP,TYR,LEU,GLY,LEU,ALA,THR,LEU,ILE)4cqoCK2331


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Conservation information for LBS of CNOT1
Multiple alignments for A5YKK6 in multiple species
LBSAA sequence# speciesSpecies
A2357LFQSVAQCCMG4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
A848EIDDEANSYFQ4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
C890REVFNCMLRNL4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
D845FSKEIDDEANS4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
E2350CAPEIEKLFQS4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
E835SQVWPEANQHF4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
E898RNLFEEYRFFP4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
E909QYPDKELHITA4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
F2353EIEKLFQSVAQ4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
F852EANSYFQRIYN4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
F901FEEYRFFPQYP4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
I2330TFIELIKNPAF4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
K2331FIELIKNPAFK4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
M14Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
N849IDDEANSYFQR4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
N894NCMLRNLFEEY4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
P906FFPQYPDKELH4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
Q2354IEKLFQSVAQC4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
Q2358FQSVAQCCMGQ4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
Q853ANSYFQRIYNH3Homo sapiens, Danio rerio, Mus musculus
Q853ANSYFQRIYNQ1Xenopus tropicalis
Q904YRFFPQYPDKE4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus
W2338PAFKFWNHEFV3Homo sapiens, Xenopus tropicalis, Mus musculus
W2338PAFKFWSHDFV1Danio rerio
Y856YFQRIYNHPPH3Homo sapiens, Danio rerio, Mus musculus
Y856YFQRIYNQPPH1Xenopus tropicalis
Y905RFFPQYPDKEL4Homo sapiens, Danio rerio, Xenopus tropicalis, Mus musculus


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