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CGGBP1 (CGG triplet repeat binding protein 1)

Identity

Alias (NCBI)CGGBP
p20-CGGBP
HGNC (Hugo) CGGBP1
HGNC Alias symbp20-CGGBP
CGGBP
HGNC Alias namep20-CGG binding protein
LocusID (NCBI) 8545
Atlas_Id 52418
Location 3p11.1  [Link to chromosome band 3p11]
Location_base_pair Starts at 88051950 and ends at 88058996 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
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    CGG triplet repeat binding protein 1
AliasesCGGBP; p20-CGGBP
GeneCards (Weizmann)CGGBP1
Ensembl hg19 (Hinxton)ENSG00000163320 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000163320 [Gene_View]  ENSG00000163320 [Sequence]  chr3:88051950-88058996 [Contig_View]  CGGBP1 [Vega]
ICGC DataPortalENSG00000163320
TCGA cBioPortalCGGBP1
AceView (NCBI)CGGBP1
Genatlas (Paris)CGGBP1
SOURCE (Princeton)CGGBP1
Genetics Home Reference (NIH)CGGBP1
Genomic and cartography
GoldenPath hg38 (UCSC)CGGBP1  -     chr3:88051950-88058996 -  3p11.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CGGBP1  -     3p11.1   [Description]    (hg19-Feb_2009)
GoldenPathCGGBP1 - 3p11.1 [CytoView hg19]  CGGBP1 - 3p11.1 [CytoView hg38]
ImmunoBaseENSG00000163320
Genome Data Viewer NCBICGGBP1 [Mapview hg19]  
OMIM603363   
Gene and transcription
Genbank (Entrez)AJ000258 AL117392 AL357195 BC005222 BC042194
RefSeq transcript (Entrez)NM_001008390 NM_001195308 NM_003663
Consensus coding sequences : CCDS (NCBI)CGGBP1
Gene ExpressionCGGBP1 [ NCBI-GEO ]   CGGBP1 [ EBI - ARRAY_EXPRESS ]   CGGBP1 [ SEEK ]   CGGBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)CGGBP1 [ Firebrowse - Broad ]
GenevisibleExpression of CGGBP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8545
GTEX Portal (Tissue expression)CGGBP1
Human Protein AtlasENSG00000163320-CGGBP1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9UFW8
Domains : Interpro (EBI)Cggbp1   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)CGGBP1
SuperfamilyQ9UFW8
AlphaFold pdb e-kbQ9UFW8   
Human Protein Atlas [tissue]ENSG00000163320-CGGBP1 [tissue]
HPRD04529
Protein Interaction databases
DIP (DOE-UCLA)Q9UFW8
IntAct (EBI)Q9UFW8
BioGRIDCGGBP1
STRING (EMBL)CGGBP1
ZODIACCGGBP1
Ontologies - Pathways
QuickGOQ9UFW8
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  double-stranded DNA binding  protein binding  nucleus  nucleus  nucleoplasm  regulation of gene expression  regulation of gene expression, epigenetic  identical protein binding  DNA-binding transcription factor binding  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  double-stranded DNA binding  protein binding  nucleus  nucleus  nucleoplasm  regulation of gene expression  regulation of gene expression, epigenetic  identical protein binding  DNA-binding transcription factor binding  
NDEx NetworkCGGBP1
Atlas of Cancer Signalling NetworkCGGBP1
Wikipedia pathwaysCGGBP1
Orthology - Evolution
OrthoDB8545
GeneTree (enSembl)ENSG00000163320
Phylogenetic Trees/Animal Genes : TreeFamCGGBP1
Homologs : HomoloGeneCGGBP1
Homology/Alignments : Family Browser (UCSC)CGGBP1
Gene fusions - Rearrangements
Fusion : MitelmanCGGBP1::MITF [3p11.1/3p13]  
Fusion : MitelmanCGGBP1::SCN11A [3p11.1/3p22.2]  
Fusion : QuiverCGGBP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCGGBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CGGBP1
dbVarCGGBP1
ClinVarCGGBP1
MonarchCGGBP1
1000_GenomesCGGBP1 
Exome Variant ServerCGGBP1
GNOMAD BrowserENSG00000163320
Varsome BrowserCGGBP1
ACMGCGGBP1 variants
VarityQ9UFW8
Genomic Variants (DGV)CGGBP1 [DGVbeta]
DECIPHERCGGBP1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DCGGBP1
Mutations and Diseases : HGMDCGGBP1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCGGBP1
DgiDB (Drug Gene Interaction Database)CGGBP1
DoCM (Curated mutations)CGGBP1
CIViC (Clinical Interpretations of Variants in Cancer)CGGBP1
Cancer3DCGGBP1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM603363   
Orphanet
DisGeNETCGGBP1
MedgenCGGBP1
Genetic Testing Registry CGGBP1
NextProtQ9UFW8 [Medical]
GENETestsCGGBP1
Target ValidationCGGBP1
Huge Navigator CGGBP1 [HugePedia]
ClinGenCGGBP1
Clinical trials, drugs, therapy
MyCancerGenomeCGGBP1
Protein Interactions : CTDCGGBP1
Pharm GKB GenePA26441
PharosQ9UFW8
Clinical trialCGGBP1
Miscellaneous
canSAR (ICR)CGGBP1
HarmonizomeCGGBP1
ARCHS4CGGBP1
DataMed IndexCGGBP1
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCGGBP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Jan 17 15:18:52 CET 2022

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