Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ZBTB48 (zinc finger and BTB domain containing 48)

Identity

Alias_namesHKR3
GLI-Kruppel family member HKR3
Alias_symbol (synonym)ZNF855
Other aliasTZAP
pp9964
HGNC (Hugo) ZBTB48
LocusID (NCBI) 3104
Atlas_Id 40830
Location 1p36.31  [Link to chromosome band 1p36]
Location_base_pair Starts at 6579991 and ends at 6589280 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)
ZBTB48 (1p36.31) / ESPN (1p36.31)ZBTB48 (1p36.31) / TAS1R1 (1p36.31)ZBTB48 1p36.31 / ESPN 1p36.31
ZBTB48 1p36.31 / TAS1R1 1p36.31

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  ZBTB48/ESPN (1p36)
ZBTB48/TAS1R1 (1p36)


External links

Nomenclature
HGNC (Hugo)ZBTB48   4930
Cards
Entrez_Gene (NCBI)ZBTB48  3104  zinc finger and BTB domain containing 48
AliasesHKR3; TZAP; ZNF855; pp9964
GeneCards (Weizmann)ZBTB48
Ensembl hg19 (Hinxton)ENSG00000204859 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000204859 [Gene_View]  ENSG00000204859 [Sequence]  chr1:6579991-6589280 [Contig_View]  ZBTB48 [Vega]
ICGC DataPortalENSG00000204859
TCGA cBioPortalZBTB48
AceView (NCBI)ZBTB48
Genatlas (Paris)ZBTB48
WikiGenes3104
SOURCE (Princeton)ZBTB48
Genetics Home Reference (NIH)ZBTB48
Genomic and cartography
GoldenPath hg38 (UCSC)ZBTB48  -     chr1:6579991-6589280 +  1p36.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ZBTB48  -     1p36.31   [Description]    (hg19-Feb_2009)
EnsemblZBTB48 - 1p36.31 [CytoView hg19]  ZBTB48 - 1p36.31 [CytoView hg38]
Mapping of homologs : NCBIZBTB48 [Mapview hg19]  ZBTB48 [Mapview hg38]
OMIM165270   
Gene and transcription
Genbank (Entrez)AA765826 AF318381 AK290156 AK312786 BC013573
RefSeq transcript (Entrez)NM_001278647 NM_001278648 NM_005341
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ZBTB48
Cluster EST : UnigeneHs.502330 [ NCBI ]
CGAP (NCI)Hs.502330
Alternative Splicing GalleryENSG00000204859
Gene ExpressionZBTB48 [ NCBI-GEO ]   ZBTB48 [ EBI - ARRAY_EXPRESS ]   ZBTB48 [ SEEK ]   ZBTB48 [ MEM ]
Gene Expression Viewer (FireBrowse)ZBTB48 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)3104
GTEX Portal (Tissue expression)ZBTB48
Human Protein AtlasENSG00000204859-ZBTB48 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP10074   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP10074  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP10074
Splice isoforms : SwissVarP10074
PhosPhoSitePlusP10074
Domaine pattern : Prosite (Expaxy)BTB (PS50097)    ZINC_FINGER_C2H2_1 (PS00028)    ZINC_FINGER_C2H2_2 (PS50157)   
Domains : Interpro (EBI)BTB/POZ_dom    SKP1/BTB/POZ_sf    Znf_C2H2_sf    Znf_C2H2_type   
Domain families : Pfam (Sanger)BTB (PF00651)   
Domain families : Pfam (NCBI)pfam00651   
Domain families : Smart (EMBL)BTB (SM00225)  ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)ZBTB48
DMDM Disease mutations3104
Blocks (Seattle)ZBTB48
PDB (SRS)3B84    5YJ3   
PDB (PDBSum)3B84    5YJ3   
PDB (IMB)3B84    5YJ3   
PDB (RSDB)3B84    5YJ3   
Structural Biology KnowledgeBase3B84    5YJ3   
SCOP (Structural Classification of Proteins)3B84    5YJ3   
CATH (Classification of proteins structures)3B84    5YJ3   
SuperfamilyP10074
Human Protein Atlas [tissue]ENSG00000204859-ZBTB48 [tissue]
Peptide AtlasP10074
HPRD01316
IPIIPI00018893   IPI00103786   IPI00642585   IPI00641971   
Protein Interaction databases
DIP (DOE-UCLA)P10074
IntAct (EBI)P10074
FunCoupENSG00000204859
BioGRIDZBTB48
STRING (EMBL)ZBTB48
ZODIACZBTB48
Ontologies - Pathways
QuickGOP10074
Ontology : AmiGOchromosome, telomeric region  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  double-stranded telomeric DNA binding  DNA-binding transcription factor activity  protein binding  nucleoplasm  cytosol  transcription, DNA-templated  regulation of transcription by RNA polymerase II  telomere maintenance via telomere lengthening  identical protein binding  transcription regulatory region DNA binding  positive regulation of transcription, DNA-templated  metal ion binding  
Ontology : EGO-EBIchromosome, telomeric region  RNA polymerase II transcription factor activity, sequence-specific DNA binding  RNA polymerase II transcription factor activity, sequence-specific DNA binding  double-stranded telomeric DNA binding  DNA-binding transcription factor activity  protein binding  nucleoplasm  cytosol  transcription, DNA-templated  regulation of transcription by RNA polymerase II  telomere maintenance via telomere lengthening  identical protein binding  transcription regulatory region DNA binding  positive regulation of transcription, DNA-templated  metal ion binding  
NDEx NetworkZBTB48
Atlas of Cancer Signalling NetworkZBTB48
Wikipedia pathwaysZBTB48
Orthology - Evolution
OrthoDB3104
GeneTree (enSembl)ENSG00000204859
Phylogenetic Trees/Animal Genes : TreeFamZBTB48
HOVERGENP10074
HOGENOMP10074
Homologs : HomoloGeneZBTB48
Homology/Alignments : Family Browser (UCSC)ZBTB48
Gene fusions - Rearrangements
Fusion : MitelmanZBTB48/ESPN [1p36.31/1p36.31]  
Fusion : MitelmanZBTB48/TAS1R1 [1p36.31/1p36.31]  [t(1;1)(p36;p36)]  
Fusion PortalZBTB48 1p36.31 ESPN 1p36.31 GBM
Fusion PortalZBTB48 1p36.31 TAS1R1 1p36.31 BRCA
Fusion : QuiverZBTB48
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerZBTB48 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ZBTB48
dbVarZBTB48
ClinVarZBTB48
1000_GenomesZBTB48 
Exome Variant ServerZBTB48
ExAC (Exome Aggregation Consortium)ENSG00000204859
GNOMAD BrowserENSG00000204859
Varsome BrowserZBTB48
Genetic variants : HAPMAP3104
Genomic Variants (DGV)ZBTB48 [DGVbeta]
DECIPHERZBTB48 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisZBTB48 
Mutations
ICGC Data PortalZBTB48 
TCGA Data PortalZBTB48 
Broad Tumor PortalZBTB48
OASIS PortalZBTB48 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICZBTB48  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDZBTB48
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 ZBTB48
DgiDB (Drug Gene Interaction Database)ZBTB48
DoCM (Curated mutations)ZBTB48 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ZBTB48 (select a term)
intoGenZBTB48
Cancer3DZBTB48(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM165270   
Orphanet
DisGeNETZBTB48
MedgenZBTB48
Genetic Testing Registry ZBTB48
NextProtP10074 [Medical]
TSGene3104
GENETestsZBTB48
Target ValidationZBTB48
Huge Navigator ZBTB48 [HugePedia]
snp3D : Map Gene to Disease3104
BioCentury BCIQZBTB48
ClinGenZBTB48
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD3104
Chemical/Pharm GKB GenePA162409481
Clinical trialZBTB48
Miscellaneous
canSAR (ICR)ZBTB48 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineZBTB48
EVEXZBTB48
GoPubMedZBTB48
iHOPZBTB48
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Mon Aug 27 12:02:26 CEST 2018

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