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ASCC3 (activating signal cointegrator 1 complex subunit 3)

Identity

Alias (NCBI)ASC1p200
HELIC1
RNAH
HGNC (Hugo) ASCC3
HGNC Alias symbRNAH
ASC1p200
dJ121G13.4
dJ467N11.1
HGNC Alias nameRNA helicase family
HGNC Previous nameHELIC1
HGNC Previous namehelicase, ATP binding 1
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

 



External links

 

Nomenclature
HGNC (Hugo)ASCC3   18697
Cards
Entrez_Gene (NCBI)ASCC3    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
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)
GoldenPathASCC3 - 6q16.3 [CytoView hg19]  ASCC3 - 6q16.3 [CytoView hg38]
ImmunoBaseENSG00000112249
Genome Data Viewer NCBIASCC3 [Mapview hg19]  
OMIM614217   
Gene and transcription
Genbank (Entrez)AA788717 AI803859 AJ223948 AK023189 AK299117
RefSeq transcript (Entrez)NM_001284271 NM_006828 NM_022091
Consensus coding sequences : CCDS (NCBI)ASCC3
Gene ExpressionASCC3 [ NCBI-GEO ]   ASCC3 [ EBI - ARRAY_EXPRESS ]   ASCC3 [ SEEK ]   ASCC3 [ MEM ]
Gene Expression Viewer (FireBrowse)ASCC3 [ Firebrowse - Broad ]
GenevisibleExpression of ASCC3 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
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
PDB (RSDB)6YXQ   
PDB Europe6YXQ   
PDB (PDBSum)6YXQ   
PDB (IMB)6YXQ   
Structural Biology KnowledgeBase6YXQ   
SCOP (Structural Classification of Proteins)6YXQ   
CATH (Classification of proteins structures)6YXQ   
SuperfamilyQ8N3C0
AlphaFold pdb e-kbQ8N3C0   
Human Protein Atlas [tissue]ENSG00000112249-ASCC3 [tissue]
HPRD09980
Protein Interaction databases
DIP (DOE-UCLA)Q8N3C0
IntAct (EBI)Q8N3C0
BioGRIDASCC3
STRING (EMBL)ASCC3
ZODIACASCC3
Ontologies - Pathways
QuickGOQ8N3C0
Ontology : AmiGORNA binding  RNA binding  protein binding  ATP binding  nucleus  nucleus  nucleus  nucleoplasm  cytosol  DNA dealkylation involved in DNA repair  DNA dealkylation involved in DNA repair  cell population proliferation  membrane  nuclear speck  hydrolase activity  DNA duplex unwinding  3'-5' DNA helicase activity  3'-5' DNA helicase activity  activating signal cointegrator 1 complex  
Ontology : EGO-EBIRNA binding  RNA binding  protein binding  ATP binding  nucleus  nucleus  nucleus  nucleoplasm  cytosol  DNA dealkylation involved in DNA repair  DNA dealkylation involved in DNA repair  cell population proliferation  membrane  nuclear speck  hydrolase activity  DNA duplex unwinding  3'-5' DNA helicase activity  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
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]  
Fusion : MitelmanASCC3/SERINC1 [6q16.3/6q22.31]  
Fusion : MitelmanASCC3/SYNE1 [6q16.3/6q25.1]  
Fusion : MitelmanFAXC/ASCC3 [6q16.2/6q16.3]  
Fusion : MitelmanHIVEP3/ASCC3 [1p34.2/6q16.3]  
Fusion : MitelmanOTUD7A/ASCC3 [15q13.3/6q16.3]  
Fusion : MitelmanPPP2R5D/ASCC3 [6p21.1/6q16.3]  
Fusion : MitelmanSIM1/ASCC3 [6q16.3/6q16.3]  
Fusion : MitelmanUBE2E1/ASCC3 [3p24.3/6q16.3]  
Fusion : QuiverASCC3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerASCC3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ASCC3
dbVarASCC3
ClinVarASCC3
MonarchASCC3
1000_GenomesASCC3 
Exome Variant ServerASCC3
GNOMAD BrowserENSG00000112249
Varsome BrowserASCC3
ACMGASCC3 variants
VarityQ8N3C0
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]  
Somatic Mutations in Cancer : COSMIC3DASCC3
Mutations and Diseases : HGMDASCC3
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaASCC3
DgiDB (Drug Gene Interaction Database)ASCC3
DoCM (Curated mutations)ASCC3
CIViC (Clinical Interpretations of Variants in Cancer)ASCC3
Cancer3DASCC3
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM614217   
Orphanet
DisGeNETASCC3
MedgenASCC3
Genetic Testing Registry ASCC3
NextProtQ8N3C0 [Medical]
GENETestsASCC3
Target ValidationASCC3
Huge Navigator ASCC3 [HugePedia]
ClinGenASCC3
Clinical trials, drugs, therapy
MyCancerGenomeASCC3
Protein Interactions : CTDASCC3
Pharm GKB GenePA134890913
PharosQ8N3C0
Clinical trialASCC3
Miscellaneous
canSAR (ICR)ASCC3
HarmonizomeASCC3
DataMed IndexASCC3
Probes
Litterature
PubMed84 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXASCC3
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 15:00:18 CEST 2021

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