Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

PAXBP1 (PAX3 and PAX7 binding protein 1)

Identity

Alias_namesC21orf66
GCFC1
chromosome 21 open reading frame 66
GC-rich sequence DNA-binding factor 1
Alias_symbol (synonym)GCFC
fSAP105
Other aliasBM020
FSAP105
HGNC (Hugo) PAXBP1
LocusID (NCBI) 94104
Atlas_Id 56503
Location 21q22.11  [Link to chromosome band 21q22]
Location_base_pair Starts at 32741339 and ends at 32771858 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ARL2BP (16q13) / PAXBP1 (21q22.11)CD81 (11p15.5) / PAXBP1 (21q22.11)PAXBP1 (21q22.11) / ABI3BP (3q12.2)
PAXBP1 (21q22.11) / ADAMTS1 (21q21.3)PAXBP1 (21q22.11) / OR51E2 (11p15.4)PAXBP1 (21q22.11) / TP53I3 (2p23.3)

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)PAXBP1   13579
Cards
Entrez_Gene (NCBI)PAXBP1  94104  PAX3 and PAX7 binding protein 1
AliasesBM020; C21orf66; FSAP105; GCFC; 
GCFC1
GeneCards (Weizmann)PAXBP1
Ensembl hg19 (Hinxton)ENSG00000159086 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000159086 [Gene_View]  chr21:32741339-32771858 [Contig_View]  PAXBP1 [Vega]
ICGC DataPortalENSG00000159086
TCGA cBioPortalPAXBP1
AceView (NCBI)PAXBP1
Genatlas (Paris)PAXBP1
WikiGenes94104
SOURCE (Princeton)PAXBP1
Genetics Home Reference (NIH)PAXBP1
Genomic and cartography
GoldenPath hg38 (UCSC)PAXBP1  -     chr21:32741339-32771858 -  21q22.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAXBP1  -     21q22.11   [Description]    (hg19-Feb_2009)
EnsemblPAXBP1 - 21q22.11 [CytoView hg19]  PAXBP1 - 21q22.11 [CytoView hg38]
Mapping of homologs : NCBIPAXBP1 [Mapview hg19]  PAXBP1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF153208 AF208862 AF231920 AJ279080 AJ279081
RefSeq transcript (Entrez)NM_013329 NM_016631 NM_058191 NM_145328
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PAXBP1
Cluster EST : UnigeneHs.644004 [ NCBI ]
CGAP (NCI)Hs.644004
Alternative Splicing GalleryENSG00000159086
Gene ExpressionPAXBP1 [ NCBI-GEO ]   PAXBP1 [ EBI - ARRAY_EXPRESS ]   PAXBP1 [ SEEK ]   PAXBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)PAXBP1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)94104
GTEX Portal (Tissue expression)PAXBP1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9Y5B6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9Y5B6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9Y5B6
Splice isoforms : SwissVarQ9Y5B6
PhosPhoSitePlusQ9Y5B6
Domains : Interpro (EBI)GCFC    GCFC_dom   
Domain families : Pfam (Sanger)GCFC (PF07842)   
Domain families : Pfam (NCBI)pfam07842   
Conserved Domain (NCBI)PAXBP1
DMDM Disease mutations94104
Blocks (Seattle)PAXBP1
SuperfamilyQ9Y5B6
Human Protein AtlasENSG00000159086
Peptide AtlasQ9Y5B6
HPRD10761
IPIIPI00001364   IPI00069267   IPI00219169   IPI00797180   IPI00892801   IPI00892918   
Protein Interaction databases
DIP (DOE-UCLA)Q9Y5B6
IntAct (EBI)Q9Y5B6
FunCoupENSG00000159086
BioGRIDPAXBP1
STRING (EMBL)PAXBP1
ZODIACPAXBP1
Ontologies - Pathways
QuickGOQ9Y5B6
Ontology : AmiGORNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  nucleus  cytosol  transcription, DNA-templated  muscle organ development  transcription factor binding  regulation of skeletal muscle satellite cell proliferation  positive regulation of histone methylation  positive regulation of transcription from RNA polymerase II promoter  positive regulation of myoblast proliferation  
Ontology : EGO-EBIRNA polymerase II core promoter proximal region sequence-specific DNA binding  transcriptional repressor activity, RNA polymerase II core promoter proximal region sequence-specific binding  nucleus  cytosol  transcription, DNA-templated  muscle organ development  transcription factor binding  regulation of skeletal muscle satellite cell proliferation  positive regulation of histone methylation  positive regulation of transcription from RNA polymerase II promoter  positive regulation of myoblast proliferation  
NDEx NetworkPAXBP1
Atlas of Cancer Signalling NetworkPAXBP1
Wikipedia pathwaysPAXBP1
Orthology - Evolution
OrthoDB94104
GeneTree (enSembl)ENSG00000159086
Phylogenetic Trees/Animal Genes : TreeFamPAXBP1
HOVERGENQ9Y5B6
HOGENOMQ9Y5B6
Homologs : HomoloGenePAXBP1
Homology/Alignments : Family Browser (UCSC)PAXBP1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAXBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAXBP1
dbVarPAXBP1
ClinVarPAXBP1
1000_GenomesPAXBP1 
Exome Variant ServerPAXBP1
ExAC (Exome Aggregation Consortium)PAXBP1 (select the gene name)
Genetic variants : HAPMAP94104
Genomic Variants (DGV)PAXBP1 [DGVbeta]
DECIPHERPAXBP1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPAXBP1 
Mutations
ICGC Data PortalPAXBP1 
TCGA Data PortalPAXBP1 
Broad Tumor PortalPAXBP1
OASIS PortalPAXBP1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDPAXBP1
BioMutasearch PAXBP1
DgiDB (Drug Gene Interaction Database)PAXBP1
DoCM (Curated mutations)PAXBP1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PAXBP1 (select a term)
intoGenPAXBP1
Cancer3DPAXBP1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenPAXBP1
Genetic Testing Registry PAXBP1
NextProtQ9Y5B6 [Medical]
TSGene94104
GENETestsPAXBP1
Target ValidationPAXBP1
Huge Navigator PAXBP1 [HugePedia]
snp3D : Map Gene to Disease94104
BioCentury BCIQPAXBP1
ClinGenPAXBP1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD94104
Chemical/Pharm GKB GenePA25861
Clinical trialPAXBP1
Miscellaneous
canSAR (ICR)PAXBP1 (select the gene name)
Probes
Litterature
PubMed21 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePAXBP1
EVEXPAXBP1
GoPubMedPAXBP1
iHOPPAXBP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:48:35 CEST 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.