Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ASCC2 (activating signal cointegrator 1 complex subunit 2)

Identity

Alias (NCBI)ASC1p100
p100
HGNC (Hugo) ASCC2
HGNC Alias symbASC1p100
FLJ21588
DKFZp586O0223
HGNC Alias nameASC 1 complex subunit P100
LocusID (NCBI) 84164
Atlas_Id 55161
Location 22q12.2  [Link to chromosome band 22q12]
Location_base_pair Starts at 29788611 and ends at 29838274 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)
ASCC2 (22q12.2) / ASCC2 (22q12.2)ASCC2 (22q12.2) / EZR (6q25.3)ASCC2 (22q12.2) / FOXP4 (6p21.1)
ASCC2 (22q12.2) / LAMTOR3 (4q23)CD74 (5q32) / ASCC2 (22q12.2)EIF3L (22q13.1) / ASCC2 (22q12.2)
ZMAT5 (22q12.2) / ASCC2 (22q12.2)ZNRF3 (22q12.1) / ASCC2 (22q12.2)EIF3L 22q13.1 / ASCC2 22q12.2
ZMAT5 22q12.2 / ASCC2 22q12.2ZNRF3 22q12.1 / ASCC2 22q12.2

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) [ 3 ]
  ZMAT5/ASCC2 (22q12)
ZNRF3/ASCC2 (22q12)
t(22;22)(q12;q13) EIF3L/ASCC2

External links

Nomenclature
HGNC (Hugo)ASCC2   24103
Cards
Entrez_Gene (NCBI)ASCC2    activating signal cointegrator 1 complex subunit 2
AliasesASC1p100; p100
GeneCards (Weizmann)ASCC2
Ensembl hg19 (Hinxton)ENSG00000100325 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100325 [Gene_View]  ENSG00000100325 [Sequence]  chr22:29788611-29838274 [Contig_View]  ASCC2 [Vega]
ICGC DataPortalENSG00000100325
TCGA cBioPortalASCC2
AceView (NCBI)ASCC2
Genatlas (Paris)ASCC2
SOURCE (Princeton)ASCC2
Genetics Home Reference (NIH)ASCC2
Genomic and cartography
GoldenPath hg38 (UCSC)ASCC2  -     chr22:29788611-29838274 -  22q12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ASCC2  -     22q12.2   [Description]    (hg19-Feb_2009)
GoldenPathASCC2 - 22q12.2 [CytoView hg19]  ASCC2 - 22q12.2 [CytoView hg38]
ImmunoBaseENSG00000100325
genome Data Viewer NCBIASCC2 [Mapview hg19]  
OMIM614216   
Gene and transcription
Genbank (Entrez)AA765659 AK022886 AK025241 AK222723 AK223033
RefSeq transcript (Entrez)NM_001242906 NM_001369920 NM_001369921 NM_001369922 NM_001369923 NM_001369924 NM_001369925 NM_001369926 NM_001369927 NM_001369928 NM_001369929 NM_001369930 NM_001369931 NM_001369932 NM_001369933 NM_001369934 NM_001369935 NM_001369936 NM_001369937 NM_001369938 NM_001369939 NM_001369940 NM_001369941 NM_001369942 NM_001369943 NM_001369944 NM_001369945 NM_001369946 NM_001369947 NM_001369948 NM_001369949 NM_001369950 NM_032204
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ASCC2
Alternative Splicing GalleryENSG00000100325
Gene ExpressionASCC2 [ NCBI-GEO ]   ASCC2 [ EBI - ARRAY_EXPRESS ]   ASCC2 [ SEEK ]   ASCC2 [ MEM ]
Gene Expression Viewer (FireBrowse)ASCC2 [ Firebrowse - Broad ]
GenevisibleExpression of ASCC2 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84164
GTEX Portal (Tissue expression)ASCC2
Human Protein AtlasENSG00000100325-ASCC2 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H1I8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H1I8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H1I8
Splice isoforms : SwissVarQ9H1I8
PhosPhoSitePlusQ9H1I8
Domaine pattern : Prosite (Expaxy)CUE (PS51140)   
Domains : Interpro (EBI)ASCC2_CUE    CUE    UBA-like_sf   
Domain families : Pfam (Sanger)CUE (PF02845)   
Domain families : Pfam (NCBI)pfam02845   
Domain families : Smart (EMBL)CUE (SM00546)  
Conserved Domain (NCBI)ASCC2
Blocks (Seattle)ASCC2
PDB (RSDB)2DI0   
PDB Europe2DI0   
PDB (PDBSum)2DI0   
PDB (IMB)2DI0   
Structural Biology KnowledgeBase2DI0   
SCOP (Structural Classification of Proteins)2DI0   
CATH (Classification of proteins structures)2DI0   
SuperfamilyQ9H1I8
Human Protein Atlas [tissue]ENSG00000100325-ASCC2 [tissue]
Peptide AtlasQ9H1I8
HPRD16515
IPIIPI00549736   IPI00452803   IPI01015732   IPI00893854   IPI00894003   IPI00894241   IPI00892691   IPI00889573   IPI00892912   
Protein Interaction databases
DIP (DOE-UCLA)Q9H1I8
IntAct (EBI)Q9H1I8
BioGRIDASCC2
STRING (EMBL)ASCC2
ZODIACASCC2
Ontologies - Pathways
QuickGOQ9H1I8
Ontology : AmiGOnucleus  nucleoplasm  DNA dealkylation involved in DNA repair  regulation of transcription, DNA-templated  regulation of transcription, DNA-templated  nuclear speck  ubiquitin binding  activating signal cointegrator 1 complex  
Ontology : EGO-EBInucleus  nucleoplasm  DNA dealkylation involved in DNA repair  regulation of transcription, DNA-templated  regulation of transcription, DNA-templated  nuclear speck  ubiquitin binding  activating signal cointegrator 1 complex  
NDEx NetworkASCC2
Atlas of Cancer Signalling NetworkASCC2
Wikipedia pathwaysASCC2
Orthology - Evolution
OrthoDB84164
GeneTree (enSembl)ENSG00000100325
Phylogenetic Trees/Animal Genes : TreeFamASCC2
HOGENOMQ9H1I8
Homologs : HomoloGeneASCC2
Homology/Alignments : Family Browser (UCSC)ASCC2
Gene fusions - Rearrangements
Fusion : MitelmanEIF3L/ASCC2 [22q13.1/22q12.2]  
Fusion : MitelmanZMAT5/ASCC2 [22q12.2/22q12.2]  
Fusion : MitelmanZNRF3/ASCC2 [22q12.1/22q12.2]  
Fusion PortalEIF3L 22q13.1 ASCC2 22q12.2 LUAD
Fusion PortalZMAT5 22q12.2 ASCC2 22q12.2 GBM
Fusion PortalZNRF3 22q12.1 ASCC2 22q12.2 BRCA
Fusion : QuiverASCC2
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASCC2 [hg38]
dbVarASCC2
ClinVarASCC2
MonarchASCC2
1000_GenomesASCC2 
Exome Variant ServerASCC2
GNOMAD BrowserENSG00000100325
Varsome BrowserASCC2
Genomic Variants (DGV)ASCC2 [DGVbeta]
DECIPHERASCC2 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisASCC2 
Mutations
ICGC Data PortalASCC2 
TCGA Data PortalASCC2 
Broad Tumor PortalASCC2
OASIS PortalASCC2 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICASCC2  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DASCC2
Mutations and Diseases : HGMDASCC2
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 ASCC2
DgiDB (Drug Gene Interaction Database)ASCC2
DoCM (Curated mutations)ASCC2 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ASCC2 (select a term)
intoGenASCC2
Cancer3DASCC2(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614216   
Orphanet
DisGeNETASCC2
MedgenASCC2
Genetic Testing Registry ASCC2
NextProtQ9H1I8 [Medical]
GENETestsASCC2
Target ValidationASCC2
Huge Navigator ASCC2 [HugePedia]
ClinGenASCC2
Clinical trials, drugs, therapy
MyCancerGenomeASCC2
Protein Interactions : CTD
Pharm GKB GenePA134916940
PharosQ9H1I8
Clinical trialASCC2
Miscellaneous
canSAR (ICR)ASCC2 (select the gene name)
HarmonizomeASCC2
DataMed IndexASCC2
Probes
Litterature
PubMed39 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXASCC2
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jan 1 18:06:19 CET 2021
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