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SAP130 (Sin3A-associated protein, 130kDa)

Identity

Alias_namessin3A-associated protein, 130kDa
Alias_symbol (synonym)FLJ12761
Other alias-
HGNC (Hugo) SAP130
LocusID (NCBI) 79595
Atlas_Id 72974
Location 2q14.3  [Link to chromosome band 2q14]
Location_base_pair Starts at 128698791 and ends at 128784869 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
AFF3 (2q11.2) / SAP130 (2q14.3)AMMECR1L (2q14.3) / SAP130 (2q14.3)CDK5RAP2 (9q33.2) / SAP130 (2q14.3)
HNRNPH1 (5q35.3) / SAP130 (2q14.3)MSI2 (17q22) / SAP130 (2q14.3)

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)SAP130   29813
Cards
Entrez_Gene (NCBI)SAP130  79595  Sin3A-associated protein, 130kDa
Aliases
GeneCards (Weizmann)SAP130
Ensembl hg19 (Hinxton)ENSG00000136715 [Gene_View]  chr2:128698791-128784869 [Contig_View]  SAP130 [Vega]
Ensembl hg38 (Hinxton)ENSG00000136715 [Gene_View]  chr2:128698791-128784869 [Contig_View]  SAP130 [Vega]
ICGC DataPortalENSG00000136715
TCGA cBioPortalSAP130
AceView (NCBI)SAP130
Genatlas (Paris)SAP130
WikiGenes79595
SOURCE (Princeton)SAP130
Genetics Home Reference (NIH)SAP130
Genomic and cartography
GoldenPath hg19 (UCSC)SAP130  -     chr2:128698791-128784869 -  2q14.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)SAP130  -     2q14.3   [Description]    (hg38-Dec_2013)
EnsemblSAP130 - 2q14.3 [CytoView hg19]  SAP130 - 2q14.3 [CytoView hg38]
Mapping of homologs : NCBISAP130 [Mapview hg19]  SAP130 [Mapview hg38]
OMIM609697   
Gene and transcription
Genbank (Entrez)AK022823 AK055979 AK092234 AK315185 AL136833
RefSeq transcript (Entrez)NM_001145928 NM_024545
RefSeq genomic (Entrez)NC_000002 NC_018913 NT_005403 NW_004929304
Consensus coding sequences : CCDS (NCBI)SAP130
Cluster EST : UnigeneHs.32995 [ NCBI ]
CGAP (NCI)Hs.32995
Alternative Splicing GalleryENSG00000136715
Gene ExpressionSAP130 [ NCBI-GEO ]   SAP130 [ EBI - ARRAY_EXPRESS ]   SAP130 [ SEEK ]   SAP130 [ MEM ]
Gene Expression Viewer (FireBrowse)SAP130 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79595
GTEX Portal (Tissue expression)SAP130
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H0E3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H0E3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H0E3
Splice isoforms : SwissVarQ9H0E3
PhosPhoSitePlusQ9H0E3
Domains : Interpro (EBI)His_deAcase_cplx_SAP130   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)SAP130
DMDM Disease mutations79595
Blocks (Seattle)SAP130
SuperfamilyQ9H0E3
Human Protein AtlasENSG00000136715
Peptide AtlasQ9H0E3
HPRD18015
IPIIPI00748953   IPI00002220   IPI00916979   IPI00917147   
Protein Interaction databases
DIP (DOE-UCLA)Q9H0E3
IntAct (EBI)Q9H0E3
FunCoupENSG00000136715
BioGRIDSAP130
STRING (EMBL)SAP130
ZODIACSAP130
Ontologies - Pathways
QuickGOQ9H0E3
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  transcription coactivator activity  histone acetyltransferase activity  nucleoplasm  chromatin organization  transcription, DNA-templated  gene expression  STAGA complex  regulation of gene expression, epigenetic  histone H3 acetylation  negative regulation of gene expression, epigenetic  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  transcription coactivator activity  histone acetyltransferase activity  nucleoplasm  chromatin organization  transcription, DNA-templated  gene expression  STAGA complex  regulation of gene expression, epigenetic  histone H3 acetylation  negative regulation of gene expression, epigenetic  
NDEx NetworkSAP130
Atlas of Cancer Signalling NetworkSAP130
Wikipedia pathwaysSAP130
Orthology - Evolution
OrthoDB79595
GeneTree (enSembl)ENSG00000136715
Phylogenetic Trees/Animal Genes : TreeFamSAP130
HOVERGENQ9H0E3
HOGENOMQ9H0E3
Homologs : HomoloGeneSAP130
Homology/Alignments : Family Browser (UCSC)SAP130
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerSAP130 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)SAP130
dbVarSAP130
ClinVarSAP130
1000_GenomesSAP130 
Exome Variant ServerSAP130
ExAC (Exome Aggregation Consortium)SAP130 (select the gene name)
Genetic variants : HAPMAP79595
Genomic Variants (DGV)SAP130 [DGVbeta]
DECIPHER (Syndromes)2:128698791-128784869  ENSG00000136715
CONAN: Copy Number AnalysisSAP130 
Mutations
ICGC Data PortalSAP130 
TCGA Data PortalSAP130 
Broad Tumor PortalSAP130
OASIS PortalSAP130 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICSAP130  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDSAP130
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 SAP130
DgiDB (Drug Gene Interaction Database)SAP130
DoCM (Curated mutations)SAP130 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)SAP130 (select a term)
intoGenSAP130
Cancer3DSAP130(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609697   
Orphanet
MedgenSAP130
Genetic Testing Registry SAP130
NextProtQ9H0E3 [Medical]
TSGene79595
GENETestsSAP130
Huge Navigator SAP130 [HugePedia]
snp3D : Map Gene to Disease79595
BioCentury BCIQSAP130
ClinGenSAP130
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79595
Chemical/Pharm GKB GenePA143485608
Clinical trialSAP130
Miscellaneous
canSAR (ICR)SAP130 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineSAP130
EVEXSAP130
GoPubMedSAP130
iHOPSAP130
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:42:17 CET 2017

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