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CGGBP1 (CGG triplet repeat binding protein 1)

Identity

Alias_symbol (synonym)p20-CGGBP
CGGBP
Other alias
HGNC (Hugo) CGGBP1
LocusID (NCBI) 8545
Atlas_Id 52418
Location 3p11.1  [Link to chromosome band 3p11]
Location_base_pair Starts at 88101100 and ends at 88108146 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CGGBP1 (3p11.1) / ACTN4 (19q13.2)CGGBP1 (3p11.1) / MITF (3p13)CGGBP1 (3p11.1) / SCN11A (3p22.2)
CGGBP1 3p11.1 / MITF 3p13CGGBP1 3p11.1 / SCN11A 3p22.2

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)CGGBP1   1888
Cards
Entrez_Gene (NCBI)CGGBP1  8545  CGG triplet repeat binding protein 1
AliasesCGGBP; p20-CGGBP
GeneCards (Weizmann)CGGBP1
Ensembl hg19 (Hinxton)ENSG00000163320 [Gene_View]  chr3:88101100-88108146 [Contig_View]  CGGBP1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000163320 [Gene_View]  chr3:88101100-88108146 [Contig_View]  CGGBP1 [Vega]
ICGC DataPortalENSG00000163320
TCGA cBioPortalCGGBP1
AceView (NCBI)CGGBP1
Genatlas (Paris)CGGBP1
WikiGenes8545
SOURCE (Princeton)CGGBP1
Genetics Home Reference (NIH)CGGBP1
Genomic and cartography
GoldenPath hg19 (UCSC)CGGBP1  -     chr3:88101100-88108146 -  3p11.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CGGBP1  -     3p11.1   [Description]    (hg38-Dec_2013)
EnsemblCGGBP1 - 3p11.1 [CytoView hg19]  CGGBP1 - 3p11.1 [CytoView hg38]
Mapping of homologs : NCBICGGBP1 [Mapview hg19]  CGGBP1 [Mapview hg38]
OMIM603363   
Gene and transcription
Genbank (Entrez)AJ000258 AL117392 AL357195 AM393707 BC005222
RefSeq transcript (Entrez)NM_001008390 NM_001195308 NM_003663
RefSeq genomic (Entrez)NC_000003 NC_018914 NT_022517 NW_004929310
Consensus coding sequences : CCDS (NCBI)CGGBP1
Cluster EST : UnigeneHs.444818 [ NCBI ]
CGAP (NCI)Hs.444818
Alternative Splicing GalleryENSG00000163320
Gene ExpressionCGGBP1 [ NCBI-GEO ]   CGGBP1 [ EBI - ARRAY_EXPRESS ]   CGGBP1 [ SEEK ]   CGGBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)CGGBP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8545
GTEX Portal (Tissue expression)CGGBP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9UFW8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9UFW8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9UFW8
Splice isoforms : SwissVarQ9UFW8
PhosPhoSitePlusQ9UFW8
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CGGBP1
DMDM Disease mutations8545
Blocks (Seattle)CGGBP1
SuperfamilyQ9UFW8
Human Protein AtlasENSG00000163320
Peptide AtlasQ9UFW8
HPRD04529
IPIIPI00295585   IPI00795467   
Protein Interaction databases
DIP (DOE-UCLA)Q9UFW8
IntAct (EBI)Q9UFW8
FunCoupENSG00000163320
BioGRIDCGGBP1
STRING (EMBL)CGGBP1
ZODIACCGGBP1
Ontologies - Pathways
QuickGOQ9UFW8
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding  transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding  double-stranded DNA binding  protein binding  nucleus  nucleoplasm  transcription, DNA-templated  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding  transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding  double-stranded DNA binding  protein binding  nucleus  nucleoplasm  transcription, DNA-templated  
NDEx NetworkCGGBP1
Atlas of Cancer Signalling NetworkCGGBP1
Wikipedia pathwaysCGGBP1
Orthology - Evolution
OrthoDB8545
GeneTree (enSembl)ENSG00000163320
Phylogenetic Trees/Animal Genes : TreeFamCGGBP1
HOVERGENQ9UFW8
HOGENOMQ9UFW8
Homologs : HomoloGeneCGGBP1
Homology/Alignments : Family Browser (UCSC)CGGBP1
Gene fusions - Rearrangements
Fusion : MitelmanCGGBP1/MITF [3p11.1/3p13]  
Fusion : MitelmanCGGBP1/SCN11A [3p11.1/3p22.2]  [t(3;3)(p11;p22)]  
Fusion: TCGACGGBP1 3p11.1 MITF 3p13 HNSC
Fusion: TCGACGGBP1 3p11.1 SCN11A 3p22.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCGGBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CGGBP1
dbVarCGGBP1
ClinVarCGGBP1
1000_GenomesCGGBP1 
Exome Variant ServerCGGBP1
ExAC (Exome Aggregation Consortium)CGGBP1 (select the gene name)
Genetic variants : HAPMAP8545
Genomic Variants (DGV)CGGBP1 [DGVbeta]
DECIPHER (Syndromes)3:88101100-88108146  ENSG00000163320
CONAN: Copy Number AnalysisCGGBP1 
Mutations
ICGC Data PortalCGGBP1 
TCGA Data PortalCGGBP1 
Broad Tumor PortalCGGBP1
OASIS PortalCGGBP1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCGGBP1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCGGBP1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CGGBP1
DgiDB (Drug Gene Interaction Database)CGGBP1
DoCM (Curated mutations)CGGBP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CGGBP1 (select a term)
intoGenCGGBP1
Cancer3DCGGBP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603363   
Orphanet
MedgenCGGBP1
Genetic Testing Registry CGGBP1
NextProtQ9UFW8 [Medical]
TSGene8545
GENETestsCGGBP1
Huge Navigator CGGBP1 [HugePedia]
snp3D : Map Gene to Disease8545
BioCentury BCIQCGGBP1
ClinGenCGGBP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8545
Chemical/Pharm GKB GenePA26441
Clinical trialCGGBP1
Miscellaneous
canSAR (ICR)CGGBP1 (select the gene name)
Probes
Litterature
PubMed29 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCGGBP1
EVEXCGGBP1
GoPubMedCGGBP1
iHOPCGGBP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:56:21 CEST 2017

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