Atlas of Genetics and Cytogenetics in Oncology and Haematology


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BBX (BBX high mobility group box domain containing)

Identity

Alias (NCBI)ARTC1
HBP2
HSPC339
MDS001
HGNC (Hugo) BBX
HGNC Alias symbMDS001
HSPC339
HBP2
HGNC Alias namex 001 protein
HGNC Previous namebobby sox homolog (Drosophila)
LocusID (NCBI) 56987
Atlas_Id 60721
Location 3q13.12  [Link to chromosome band 3q13]
Location_base_pair Starts at 107522962 and ends at 107811339 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)
AXIN1 (16p13.3) / BBX (3q13.12)BBX (3q13.12) / BBX (3q13.12)BBX (3q13.12) / RB1 (13q14.2)
BBX (3q13.12) / SPARCL1 (4q22.1)IGF1R (15q26.3) / BBX (3q13.12)MIR548N (2q31.2) / BBX (3q13.12)
PRDM16 (1p36.32) / BBX (3q13.12)RUNX1T1 (8q21.3) / BBX (3q13.12)TMEM39A (3q13.33) / BBX (3q13.12)
TNFSF4 (1q25.1) / BBX (3q13.12)PRDM16 BBXTMEM39A BBX
AXIN1 BBX

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)BBX   14422
Cards
Entrez_Gene (NCBI)BBX    BBX high mobility group box domain containing
AliasesARTC1; HBP2; HSPC339; MDS001
GeneCards (Weizmann)BBX
Ensembl hg19 (Hinxton)ENSG00000114439 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000114439 [Gene_View]  ENSG00000114439 [Sequence]  chr3:107522962-107811339 [Contig_View]  BBX [Vega]
ICGC DataPortalENSG00000114439
TCGA cBioPortalBBX
AceView (NCBI)BBX
Genatlas (Paris)BBX
SOURCE (Princeton)BBX
Genetics Home Reference (NIH)BBX
Genomic and cartography
GoldenPath hg38 (UCSC)BBX  -     chr3:107522962-107811339 +  3q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BBX  -     3q13.12   [Description]    (hg19-Feb_2009)
GoldenPathBBX - 3q13.12 [CytoView hg19]  BBX - 3q13.12 [CytoView hg38]
ImmunoBaseENSG00000114439
genome Data Viewer NCBIBBX [Mapview hg19]  
Gene and transcription
Genbank (Entrez)AF052174 AF161457 AF168718 AF276948 AF276949
RefSeq transcript (Entrez)NM_001142568 NM_001276286 NM_020235
Consensus coding sequences : CCDS (NCBI)BBX
Alternative Splicing GalleryENSG00000114439
Gene ExpressionBBX [ NCBI-GEO ]   BBX [ EBI - ARRAY_EXPRESS ]   BBX [ SEEK ]   BBX [ MEM ]
Gene Expression Viewer (FireBrowse)BBX [ Firebrowse - Broad ]
GenevisibleExpression of BBX in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56987
GTEX Portal (Tissue expression)BBX
Human Protein AtlasENSG00000114439-BBX [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WY36   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WY36  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WY36
PhosPhoSitePlusQ8WY36
Domaine pattern : Prosite (Expaxy)HMG_BOX_2 (PS50118)   
Domains : Interpro (EBI)HMG_box_dom    HMG_box_dom_sf    TF_HMG_box_BBX_DUF2028   
Domain families : Pfam (Sanger)DUF2028 (PF09667)    HMG_box (PF00505)   
Domain families : Pfam (NCBI)pfam09667    pfam00505   
Domain families : Smart (EMBL)HMG (SM00398)  
Conserved Domain (NCBI)BBX
SuperfamilyQ8WY36
AlphaFold pdb e-kbQ8WY36   
Human Protein Atlas [tissue]ENSG00000114439-BBX [tissue]
HPRD10688
Protein Interaction databases
DIP (DOE-UCLA)Q8WY36
IntAct (EBI)Q8WY36
BioGRIDBBX
STRING (EMBL)BBX
ZODIACBBX
Ontologies - Pathways
QuickGOQ8WY36
Ontology : AmiGOchromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  nucleus  nucleoplasm  cytosol  regulation of transcription by RNA polymerase II  bone development  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBIchromatin  RNA polymerase II transcription regulatory region sequence-specific DNA binding  DNA-binding transcription factor activity, RNA polymerase II-specific  DNA-binding transcription factor activity, RNA polymerase II-specific  nucleus  nucleoplasm  cytosol  regulation of transcription by RNA polymerase II  bone development  sequence-specific double-stranded DNA binding  
NDEx NetworkBBX
Atlas of Cancer Signalling NetworkBBX
Wikipedia pathwaysBBX
Orthology - Evolution
OrthoDB56987
GeneTree (enSembl)ENSG00000114439
Phylogenetic Trees/Animal Genes : TreeFamBBX
Homologs : HomoloGeneBBX
Homology/Alignments : Family Browser (UCSC)BBX
Gene fusions - Rearrangements
Fusion PortalPRDM16 BBX
Fusion PortalTMEM39A BBX
Fusion PortalAXIN1 BBX
Fusion : QuiverBBX
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBBX [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BBX
dbVarBBX
ClinVarBBX
MonarchBBX
1000_GenomesBBX 
Exome Variant ServerBBX
GNOMAD BrowserENSG00000114439
Varsome BrowserBBX
Genomic Variants (DGV)BBX [DGVbeta]
DECIPHERBBX [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBBX 
Mutations
ICGC Data PortalBBX 
TCGA Data PortalBBX 
Broad Tumor PortalBBX
OASIS PortalBBX [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBBX  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DBBX
Mutations and Diseases : HGMDBBX
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutasearch BBX
DgiDB (Drug Gene Interaction Database)BBX
DoCM (Curated mutations)BBX (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BBX (select a term)
Cancer3DBBX(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETBBX
MedgenBBX
Genetic Testing Registry BBX
NextProtQ8WY36 [Medical]
GENETestsBBX
Target ValidationBBX
Huge Navigator BBX [HugePedia]
ClinGenBBX
Clinical trials, drugs, therapy
MyCancerGenomeBBX
Protein Interactions : CTDBBX
Pharm GKB GenePA25280
PharosQ8WY36
Clinical trialBBX
Miscellaneous
canSAR (ICR)BBX
HarmonizomeBBX
DataMed IndexBBX
Probes
Litterature
PubMed41 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXBBX
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Sep 15 22:49:09 CEST 2021

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