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PAXBP1 (PAX3 and PAX7 binding protein 1)

Identity

Alias (NCBI)BM020
C21orf66
FSAP105
GCFC
GCFC1
HGNC (Hugo) PAXBP1
HGNC Alias symbGCFC
fSAP105
HGNC Alias namefunctional spliceosome-associated protein 105
 GC-rich sequence DNA-binding factor candidate
HGNC Previous nameC21orf66
 GCFC1
HGNC Previous namechromosome 21 open reading frame 66
 GC-rich sequence DNA-binding factor 1
LocusID (NCBI) 94104
Atlas_Id 56503
Location 21q22.11  [Link to chromosome band 21q22]
Location_base_pair Starts at 32733899 and ends at 32771755 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)
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    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]  ENSG00000159086 [Sequence]  chr21:32733899-32771755 [Contig_View]  PAXBP1 [Vega]
ICGC DataPortalENSG00000159086
TCGA cBioPortalPAXBP1
AceView (NCBI)PAXBP1
Genatlas (Paris)PAXBP1
SOURCE (Princeton)PAXBP1
Genetics Home Reference (NIH)PAXBP1
Genomic and cartography
GoldenPath hg38 (UCSC)PAXBP1  -     chr21:32733899-32771755 -  21q22.11   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PAXBP1  -     21q22.11   [Description]    (hg19-Feb_2009)
GoldenPathPAXBP1 - 21q22.11 [CytoView hg19]  PAXBP1 - 21q22.11 [CytoView hg38]
ImmunoBaseENSG00000159086
Genome Data Viewer NCBIPAXBP1 [Mapview hg19]  
OMIM617621   
Gene and transcription
Genbank (Entrez)AF153208 AF208862 AF231920 AJ279080 AJ279081
RefSeq transcript (Entrez)NM_013329 NM_016631 NM_058191 NM_145328
Consensus coding sequences : CCDS (NCBI)PAXBP1
Gene ExpressionPAXBP1 [ NCBI-GEO ]   PAXBP1 [ EBI - ARRAY_EXPRESS ]   PAXBP1 [ SEEK ]   PAXBP1 [ MEM ]
Gene Expression Viewer (FireBrowse)PAXBP1 [ Firebrowse - Broad ]
GenevisibleExpression of PAXBP1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)94104
GTEX Portal (Tissue expression)PAXBP1
Human Protein AtlasENSG00000159086-PAXBP1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusQ9Y5B6
Domains : Interpro (EBI)GCFC    GCFC_dom   
Domain families : Pfam (Sanger)GCFC (PF07842)   
Domain families : Pfam (NCBI)pfam07842   
Conserved Domain (NCBI)PAXBP1
SuperfamilyQ9Y5B6
AlphaFold pdb e-kbQ9Y5B6   
Human Protein Atlas [tissue]ENSG00000159086-PAXBP1 [tissue]
HPRD10761
Protein Interaction databases
DIP (DOE-UCLA)Q9Y5B6
IntAct (EBI)Q9Y5B6
BioGRIDPAXBP1
STRING (EMBL)PAXBP1
ZODIACPAXBP1
Ontologies - Pathways
QuickGOQ9Y5B6
Ontology : AmiGOmRNA splicing, via spliceosome  DNA binding  nucleus  cytosol  muscle organ development  regulation of skeletal muscle satellite cell proliferation  positive regulation of histone methylation  positive regulation of transcription by RNA polymerase II  positive regulation of myoblast proliferation  
Ontology : EGO-EBImRNA splicing, via spliceosome  DNA binding  nucleus  cytosol  muscle organ development  regulation of skeletal muscle satellite cell proliferation  positive regulation of histone methylation  positive regulation of transcription by RNA polymerase II  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
Homologs : HomoloGenePAXBP1
Homology/Alignments : Family Browser (UCSC)PAXBP1
Gene fusions - Rearrangements
Fusion : QuiverPAXBP1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPAXBP1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PAXBP1
dbVarPAXBP1
ClinVarPAXBP1
MonarchPAXBP1
1000_GenomesPAXBP1 
Exome Variant ServerPAXBP1
GNOMAD BrowserENSG00000159086
Varsome BrowserPAXBP1
ACMGPAXBP1 variants
VarityQ9Y5B6
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]
Somatic Mutations in Cancer : COSMICPAXBP1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPAXBP1
Mutations and Diseases : HGMDPAXBP1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaPAXBP1
DgiDB (Drug Gene Interaction Database)PAXBP1
DoCM (Curated mutations)PAXBP1
CIViC (Clinical Interpretations of Variants in Cancer)PAXBP1
Cancer3DPAXBP1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617621   
Orphanet
DisGeNETPAXBP1
MedgenPAXBP1
Genetic Testing Registry PAXBP1
NextProtQ9Y5B6 [Medical]
GENETestsPAXBP1
Target ValidationPAXBP1
Huge Navigator PAXBP1 [HugePedia]
ClinGenPAXBP1
Clinical trials, drugs, therapy
MyCancerGenomePAXBP1
Protein Interactions : CTDPAXBP1
Pharm GKB GenePA25861
PharosQ9Y5B6
Clinical trialPAXBP1
Miscellaneous
canSAR (ICR)PAXBP1
HarmonizomePAXBP1
DataMed IndexPAXBP1
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXPAXBP1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:24:24 CEST 2021

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