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ASCC1 (activating signal cointegrator 1 complex subunit 1)

Identity

Alias (NCBI)ASC1p50
CGI-18
SMABF2
p50
HGNC (Hugo) ASCC1
HGNC Alias symbCGI-18
ASC1p50
Em:AC022392.3
p50
LocusID (NCBI) 51008
Atlas_Id 46807
Location 10q22.1  [Link to chromosome band 10q22]
Location_base_pair Starts at 72096032 and ends at 72216276 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)
ASCC1 (10q22.1) / MAFG (17q25.3)ASCC1 (10q22.1) / MICU1 (10q22.1)NR2C2 (3p25.1) / ASCC1 (10q22.1)
SSU72 (1p36.33) / ASCC1 (10q22.1)ASCC1 10q22.1 / MICU1 10q22.1NR2C2 3p25.1 / ASCC1 10q22.1

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(10;17)(q22;q25) ASCC1/MAFG


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(1;10)(p36;q22) SSU72/ASCC1
t(3;10)(p25;q22) NR2C2/ASCC1
ASCC1/MICU1 (10q22)


External links

Nomenclature
HGNC (Hugo)ASCC1   24268
Cards
Entrez_Gene (NCBI)ASCC1  51008  activating signal cointegrator 1 complex subunit 1
AliasesASC1p50; CGI-18; SMABF2; p50
GeneCards (Weizmann)ASCC1
Ensembl hg19 (Hinxton)ENSG00000138303 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000138303 [Gene_View]  ENSG00000138303 [Sequence]  chr10:72096032-72216276 [Contig_View]  ASCC1 [Vega]
ICGC DataPortalENSG00000138303
TCGA cBioPortalASCC1
AceView (NCBI)ASCC1
Genatlas (Paris)ASCC1
WikiGenes51008
SOURCE (Princeton)ASCC1
Genetics Home Reference (NIH)ASCC1
Genomic and cartography
GoldenPath hg38 (UCSC)ASCC1  -     chr10:72096032-72216276 -  10q22.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ASCC1  -     10q22.1   [Description]    (hg19-Feb_2009)
GoldenPathASCC1 - 10q22.1 [CytoView hg19]  ASCC1 - 10q22.1 [CytoView hg38]
ImmunoBaseENSG00000138303
genome Data Viewer NCBIASCC1 [Mapview hg19]  
OMIM614215   614266   616867   
Gene and transcription
Genbank (Entrez)AA805081 AF132952 AK023436 AK093971 AK094170
RefSeq transcript (Entrez)NM_001198798 NM_001198799 NM_001198800 NM_001369085 NM_001369086 NM_001369087 NM_001369088 NM_001369089 NM_001369090 NM_001369091 NM_001369092 NM_001369093 NM_001369094 NM_001369095 NM_001369096 NM_001369097 NM_001369098 NM_001369099 NM_001369100 NM_001369101 NM_001369102 NM_001369103 NM_001369104 NM_001369105 NM_001369106 NM_001369107 NM_001369108 NM_001369109 NM_001369110 NM_001369111 NM_001369112 NM_015947
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ASCC1
Alternative Splicing GalleryENSG00000138303
Gene ExpressionASCC1 [ NCBI-GEO ]   ASCC1 [ EBI - ARRAY_EXPRESS ]   ASCC1 [ SEEK ]   ASCC1 [ MEM ]
Gene Expression Viewer (FireBrowse)ASCC1 [ Firebrowse - Broad ]
GenevisibleExpression of ASCC1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51008
GTEX Portal (Tissue expression)ASCC1
Human Protein AtlasENSG00000138303-ASCC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N9N2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N9N2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N9N2
Splice isoforms : SwissVarQ8N9N2
PhosPhoSitePlusQ8N9N2
Domaine pattern : Prosite (Expaxy)KH_TYPE_1 (PS50084)   
Domains : Interpro (EBI)ASCC1    Cyclic_Pdiesterase    KH_dom_type_1    KH_dom_type_1_sf    Kinase-A_anchor_nucl_local_sig   
Domain families : Pfam (Sanger)AKAP7_NLS (PF10469)    KH_1 (PF00013)   
Domain families : Pfam (NCBI)pfam10469    pfam00013   
Conserved Domain (NCBI)ASCC1
DMDM Disease mutations51008
Blocks (Seattle)ASCC1
SuperfamilyQ8N9N2
Human Protein Atlas [tissue]ENSG00000138303-ASCC1 [tissue]
Peptide AtlasQ8N9N2
IPIIPI00434389   IPI01013403   IPI00985469   IPI00434390   IPI00982196   IPI00976298   IPI00980206   IPI00982841   IPI00978955   IPI00983035   IPI00977436   IPI00983730   IPI00979533   IPI00976790   IPI00975622   
Protein Interaction databases
DIP (DOE-UCLA)Q8N9N2
IntAct (EBI)Q8N9N2
FunCoupENSG00000138303
BioGRIDASCC1
STRING (EMBL)ASCC1
ZODIACASCC1
Ontologies - Pathways
QuickGOQ8N9N2
Ontology : AmiGORNA binding  protein binding  nucleus  nucleoplasm  transcription factor complex  DNA dealkylation involved in DNA repair  regulation of transcription, DNA-templated  nuclear speck  neuromuscular junction  
Ontology : EGO-EBIRNA binding  protein binding  nucleus  nucleoplasm  transcription factor complex  DNA dealkylation involved in DNA repair  regulation of transcription, DNA-templated  nuclear speck  neuromuscular junction  
NDEx NetworkASCC1
Atlas of Cancer Signalling NetworkASCC1
Wikipedia pathwaysASCC1
Orthology - Evolution
OrthoDB51008
GeneTree (enSembl)ENSG00000138303
Phylogenetic Trees/Animal Genes : TreeFamASCC1
HOGENOMQ8N9N2
Homologs : HomoloGeneASCC1
Homology/Alignments : Family Browser (UCSC)ASCC1
Gene fusions - Rearrangements
Fusion : MitelmanASCC1/MAFG [10q22.1/17q25.3]  
Fusion : MitelmanASCC1/MICU1 [10q22.1/10q22.1]  
Fusion : MitelmanNR2C2/ASCC1 [3p25.1/10q22.1]  
Fusion : MitelmanSSU72/ASCC1 [1p36.33/10q22.1]  
Fusion PortalASCC1 10q22.1 MICU1 10q22.1 BRCA HNSC
Fusion PortalNR2C2 3p25.1 ASCC1 10q22.1 BRCA
Fusion : QuiverASCC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASCC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ASCC1
dbVarASCC1
ClinVarASCC1
MonarchASCC1
1000_GenomesASCC1 
Exome Variant ServerASCC1
GNOMAD BrowserENSG00000138303
Varsome BrowserASCC1
Genetic variants : HAPMAP51008
Genomic Variants (DGV)ASCC1 [DGVbeta]
DECIPHERASCC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisASCC1 
Mutations
ICGC Data PortalASCC1 
TCGA Data PortalASCC1 
Broad Tumor PortalASCC1
OASIS PortalASCC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICASCC1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DASCC1
Mutations and Diseases : HGMDASCC1
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 ASCC1
DgiDB (Drug Gene Interaction Database)ASCC1
DoCM (Curated mutations)ASCC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ASCC1 (select a term)
intoGenASCC1
Cancer3DASCC1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614215    614266    616867   
Orphanet
DisGeNETASCC1
MedgenASCC1
Genetic Testing Registry ASCC1
NextProtQ8N9N2 [Medical]
TSGene51008
GENETestsASCC1
Target ValidationASCC1
Huge Navigator ASCC1 [HugePedia]
snp3D : Map Gene to Disease51008
BioCentury BCIQASCC1
ClinGenASCC1
Clinical trials, drugs, therapy
Protein Interactions : CTD51008
Pharm GKB GenePA134974899
Clinical trialASCC1
Miscellaneous
canSAR (ICR)ASCC1 (select the gene name)
HarmonizomeASCC1
DataMed IndexASCC1
Probes
Litterature
PubMed32 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineASCC1
EVEXASCC1
GoPubMedASCC1
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 : Mon Sep 14 14:02:21 CEST 2020

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