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ASCC3 (activating signal cointegrator 1 complex subunit 3)

Identity

Alias_namesHELIC1
helicase
Alias_symbol (synonym)RNAH
ASC1p200
dJ121G13.4
dJ467N11.1
Other alias
HGNC (Hugo) ASCC3
LocusID (NCBI) 10973
Atlas_Id 52547
Location 6q16.3  [Link to chromosome band 6q16]
Location_base_pair Starts at 100856303 and ends at 100881372 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)
ARL15 (5q11.2) / ASCC3 (6q16.3)ASCC3 (6q16.3) / ATL1 (14q22.1)ASCC3 (6q16.3) / GRIK2 (6q16.3)
ASCC3 (6q16.3) / SERINC1 (6q22.31)ASCC3 (6q16.3) / SYNE1 (6q25.1)FAXC (6q16.2) / ASCC3 (6q16.3)
HIVEP3 (1p34.2) / ASCC3 (6q16.3)OTUD7A (15q13.3) / ASCC3 (6q16.3)PPP2R5D (6p21.1) / ASCC3 (6q16.3)
SIM1 (6q16.3) / ASCC3 (6q16.3)UBE2E1 (3p24.3) / ASCC3 (6q16.3)ASCC3 6q16.3 / ATL1 14q22.1
ASCC3 6q16.3 / GRIK2 6q16.3ASCC3 6q16.3 / SERINC1 6q22.31ASCC3 6q16.3 / SYNE1 6q25.1
C6orf168 ASCC3 6q16.3HIVEP3 1p34.2 / ASCC3 6q16.3PPP2R5D 6p21.1 / ASCC3 6q16.3
SIM1 6q16.3 / ASCC3 6q16.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 11 ]
  Lung: Translocations in Adenocarcinoma
t(1;6)(p34;q16) HIVEP3/ASCC3
t(3;6)(p24;q16) UBE2E1/ASCC3
t(6;6)(p21;q16) PPP2R5D/ASCC3
ASCC3/GRIK2 (6q16)
FAXC/ASCC3 (6q16)
SIM1/ASCC3 (6q16)
t(6;6)(q16;q22) ASCC3/SERINC1
t(6;6)(q16;q25) ASCC3/SYNE1
t(6;14)(q16;q22) ASCC3/ATL1
t(6;15)(q16;q13) OTUD7A/ASCC3


External links

Nomenclature
HGNC (Hugo)ASCC3   18697
Cards
Entrez_Gene (NCBI)ASCC3  10973  activating signal cointegrator 1 complex subunit 3
AliasesASC1p200; HELIC1; RNAH
GeneCards (Weizmann)ASCC3
Ensembl hg19 (Hinxton)ENSG00000112249 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000112249 [Gene_View]  ENSG00000112249 [Sequence]  chr6:100856303-100881372 [Contig_View]  ASCC3 [Vega]
ICGC DataPortalENSG00000112249
TCGA cBioPortalASCC3
AceView (NCBI)ASCC3
Genatlas (Paris)ASCC3
WikiGenes10973
SOURCE (Princeton)ASCC3
Genetics Home Reference (NIH)ASCC3
Genomic and cartography
GoldenPath hg38 (UCSC)ASCC3  -     chr6:100856303-100881372 -  6q16.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ASCC3  -     6q16.3   [Description]    (hg19-Feb_2009)
EnsemblASCC3 - 6q16.3 [CytoView hg19]  ASCC3 - 6q16.3 [CytoView hg38]
Mapping of homologs : NCBIASCC3 [Mapview hg19]  ASCC3 [Mapview hg38]
OMIM614217   
Gene and transcription
Genbank (Entrez)AA788717 AI803859 AJ223948 AK023189 AK299117
RefSeq transcript (Entrez)NM_001284271 NM_006828 NM_022091
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ASCC3
Cluster EST : UnigeneHs.733060 [ NCBI ]
CGAP (NCI)Hs.733060
Alternative Splicing GalleryENSG00000112249
Gene ExpressionASCC3 [ NCBI-GEO ]   ASCC3 [ EBI - ARRAY_EXPRESS ]   ASCC3 [ SEEK ]   ASCC3 [ MEM ]
Gene Expression Viewer (FireBrowse)ASCC3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10973
GTEX Portal (Tissue expression)ASCC3
Human Protein AtlasENSG00000112249-ASCC3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N3C0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N3C0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N3C0
Splice isoforms : SwissVarQ8N3C0
Catalytic activity : Enzyme3.6.4.12 [ Enzyme-Expasy ]   3.6.4.123.6.4.12 [ IntEnz-EBI ]   3.6.4.12 [ BRENDA ]   3.6.4.12 [ KEGG ]   
PhosPhoSitePlusQ8N3C0
Domaine pattern : Prosite (Expaxy)HELICASE_ATP_BIND_1 (PS51192)    HELICASE_CTER (PS51194)   
Domains : Interpro (EBI)AAA+_ATPase    C2_domain_sf    DEAD/DEAH_box_helicase_dom    Helicase_ATP-bd    Helicase_C    Ig_E-set    P-loop_NTPase    Sec63-dom    WH_DNA-bd_sf   
Domain families : Pfam (Sanger)DEAD (PF00270)    Helicase_C (PF00271)    Sec63 (PF02889)   
Domain families : Pfam (NCBI)pfam00270    pfam00271    pfam02889   
Domain families : Smart (EMBL)AAA (SM00382)  DEXDc (SM00487)  HELICc (SM00490)  Sec63 (SM00973)  
Conserved Domain (NCBI)ASCC3
DMDM Disease mutations10973
Blocks (Seattle)ASCC3
SuperfamilyQ8N3C0
Human Protein Atlas [tissue]ENSG00000112249-ASCC3 [tissue]
Peptide AtlasQ8N3C0
HPRD09980
IPIIPI00430472   IPI00005028   IPI00973326   IPI00980267   IPI00972996   
Protein Interaction databases
DIP (DOE-UCLA)Q8N3C0
IntAct (EBI)Q8N3C0
FunCoupENSG00000112249
BioGRIDASCC3
STRING (EMBL)ASCC3
ZODIACASCC3
Ontologies - Pathways
QuickGOQ8N3C0
Ontology : AmiGORNA binding  protein binding  ATP binding  intracellular  nucleus  nucleus  nucleus  nucleoplasm  cytosol  DNA dealkylation involved in DNA repair  DNA dealkylation involved in DNA repair  DNA dealkylation involved in DNA repair  transcription, DNA-templated  regulation of transcription, DNA-templated  ATP-dependent helicase activity  cell proliferation  membrane  DNA duplex unwinding  ATP-dependent 3'-5' DNA helicase activity  ATP-dependent 3'-5' DNA helicase activity  activating signal cointegrator 1 complex  
Ontology : EGO-EBIRNA binding  protein binding  ATP binding  intracellular  nucleus  nucleus  nucleus  nucleoplasm  cytosol  DNA dealkylation involved in DNA repair  DNA dealkylation involved in DNA repair  DNA dealkylation involved in DNA repair  transcription, DNA-templated  regulation of transcription, DNA-templated  ATP-dependent helicase activity  cell proliferation  membrane  DNA duplex unwinding  ATP-dependent 3'-5' DNA helicase activity  ATP-dependent 3'-5' DNA helicase activity  activating signal cointegrator 1 complex  
NDEx NetworkASCC3
Atlas of Cancer Signalling NetworkASCC3
Wikipedia pathwaysASCC3
Orthology - Evolution
OrthoDB10973
GeneTree (enSembl)ENSG00000112249
Phylogenetic Trees/Animal Genes : TreeFamASCC3
HOVERGENQ8N3C0
HOGENOMQ8N3C0
Homologs : HomoloGeneASCC3
Homology/Alignments : Family Browser (UCSC)ASCC3
Gene fusions - Rearrangements
Fusion : MitelmanASCC3/ATL1 [6q16.3/14q22.1]  
Fusion : MitelmanASCC3/GRIK2 [6q16.3/6q16.3]  [t(6;6)(q16;q16)]  
Fusion : MitelmanASCC3/SERINC1 [6q16.3/6q22.31]  [t(6;6)(q16;q22)]  
Fusion : MitelmanASCC3/SYNE1 [6q16.3/6q25.1]  [t(6;6)(q16;q25)]  
Fusion : MitelmanFAXC/ASCC3 [6q16.2/6q16.3]  [t(6;6)(q16;q16)]  
Fusion : MitelmanHIVEP3/ASCC3 [1p34.2/6q16.3]  [t(1;6)(p34;q16)]  
Fusion : MitelmanOTUD7A/ASCC3 [15q13.3/6q16.3]  [t(6;15)(q16;q13)]  
Fusion : MitelmanPPP2R5D/ASCC3 [6p21.1/6q16.3]  [t(6;6)(p21;q16)]  
Fusion : MitelmanSIM1/ASCC3 [6q16.3/6q16.3]  [t(6;6)(q16;q16)]  
Fusion : MitelmanUBE2E1/ASCC3 [3p24.3/6q16.3]  [t(3;6)(p24;q16)]  
Fusion PortalASCC3 6q16.3 ATL1 14q22.1 BRCA
Fusion PortalASCC3 6q16.3 GRIK2 6q16.3 BRCA
Fusion PortalASCC3 6q16.3 SERINC1 6q22.31 LGG
Fusion PortalASCC3 6q16.3 SYNE1 6q25.1 PRAD
Fusion PortalC6orf168 ASCC3 6q16.3 PRAD
Fusion PortalHIVEP3 1p34.2 ASCC3 6q16.3 BRCA
Fusion PortalPPP2R5D 6p21.1 ASCC3 6q16.3 BRCA
Fusion PortalSIM1 6q16.3 ASCC3 6q16.3 LUAD
Fusion : QuiverASCC3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASCC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ASCC3
dbVarASCC3
ClinVarASCC3
1000_GenomesASCC3 
Exome Variant ServerASCC3
ExAC (Exome Aggregation Consortium)ENSG00000112249
GNOMAD BrowserENSG00000112249
Varsome BrowserASCC3
Genetic variants : HAPMAP10973
Genomic Variants (DGV)ASCC3 [DGVbeta]
DECIPHERASCC3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisASCC3 
Mutations
ICGC Data PortalASCC3 
TCGA Data PortalASCC3 
Broad Tumor PortalASCC3
OASIS PortalASCC3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICASCC3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDASCC3
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 ASCC3
DgiDB (Drug Gene Interaction Database)ASCC3
DoCM (Curated mutations)ASCC3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ASCC3 (select a term)
intoGenASCC3
Cancer3DASCC3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614217   
Orphanet
DisGeNETASCC3
MedgenASCC3
Genetic Testing Registry ASCC3
NextProtQ8N3C0 [Medical]
TSGene10973
GENETestsASCC3
Target ValidationASCC3
Huge Navigator ASCC3 [HugePedia]
snp3D : Map Gene to Disease10973
BioCentury BCIQASCC3
ClinGenASCC3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10973
Chemical/Pharm GKB GenePA134890913
Clinical trialASCC3
Miscellaneous
canSAR (ICR)ASCC3 (select the gene name)
Probes
Litterature
PubMed44 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineASCC3
EVEXASCC3
GoPubMedASCC3
iHOPASCC3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Aug 27 11:10:18 CEST 2018

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