Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ACTL6A (actin like 6A)

Identity

Alias_symbol (synonym)Actl6
BAF53A
Arp4
Baf53a
INO80K
Other aliasACTL6
ARPN-BETA
HGNC (Hugo) ACTL6A
LocusID (NCBI) 86
Atlas_Id 52255
Location 3q26.33  [Link to chromosome band 3q26]
Location_base_pair Starts at 179562880 and ends at 179588405 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ACTL6A (3q26.33) / ACTL6A (3q26.33)ACTL6A (3q26.33) / ALG3 (3q27.1)ACTL6A (3q26.33) / XPC (3p25.1)
NDUFB5 (3q26.33) / ACTL6A (3q26.33)PPP3CA (4q24) / ACTL6A (3q26.33)YWHAZ (8q22.3) / ACTL6A (3q26.33)
ACTL6A 3q26.33 / ALG3 3q27.1

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

 


External links

Nomenclature
HGNC (Hugo)ACTL6A   24124
Cards
Entrez_Gene (NCBI)ACTL6A  86  actin like 6A
AliasesACTL6; ARPN-BETA; Arp4; BAF53A; 
INO80K
GeneCards (Weizmann)ACTL6A
Ensembl hg19 (Hinxton)ENSG00000136518 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000136518 [Gene_View]  chr3:179562880-179588405 [Contig_View]  ACTL6A [Vega]
ICGC DataPortalENSG00000136518
TCGA cBioPortalACTL6A
AceView (NCBI)ACTL6A
Genatlas (Paris)ACTL6A
WikiGenes86
SOURCE (Princeton)ACTL6A
Genetics Home Reference (NIH)ACTL6A
Genomic and cartography
GoldenPath hg38 (UCSC)ACTL6A  -     chr3:179562880-179588405 +  3q26.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACTL6A  -     3q26.33   [Description]    (hg19-Feb_2009)
EnsemblACTL6A - 3q26.33 [CytoView hg19]  ACTL6A - 3q26.33 [CytoView hg38]
Mapping of homologs : NCBIACTL6A [Mapview hg19]  ACTL6A [Mapview hg38]
OMIM604958   
Gene and transcription
Genbank (Entrez)AA256726 AB015907 AB060168 AB061315 AF041474
RefSeq transcript (Entrez)NM_004301 NM_177989 NM_178042
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ACTL6A
Cluster EST : UnigeneHs.435326 [ NCBI ]
CGAP (NCI)Hs.435326
Alternative Splicing GalleryENSG00000136518
Gene ExpressionACTL6A [ NCBI-GEO ]   ACTL6A [ EBI - ARRAY_EXPRESS ]   ACTL6A [ SEEK ]   ACTL6A [ MEM ]
Gene Expression Viewer (FireBrowse)ACTL6A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)86
GTEX Portal (Tissue expression)ACTL6A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO96019   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO96019  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO96019
Splice isoforms : SwissVarO96019
PhosPhoSitePlusO96019
Domaine pattern : Prosite (Expaxy)ACTINS_2 (PS00432)   
Domains : Interpro (EBI)ACL6A    Actin    Actin_CS   
Domain families : Pfam (Sanger)Actin (PF00022)   
Domain families : Pfam (NCBI)pfam00022   
Domain families : Smart (EMBL)ACTIN (SM00268)  
Conserved Domain (NCBI)ACTL6A
DMDM Disease mutations86
Blocks (Seattle)ACTL6A
SuperfamilyO96019
Human Protein AtlasENSG00000136518
Peptide AtlasO96019
HPRD05389
IPIIPI00003627   IPI00216622   IPI00944907   IPI00792088   
Protein Interaction databases
DIP (DOE-UCLA)O96019
IntAct (EBI)O96019
FunCoupENSG00000136518
BioGRIDACTL6A
STRING (EMBL)ACTL6A
ZODIACACTL6A
Ontologies - Pathways
QuickGOO96019
Ontology : AmiGOnuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  neural retina development  chromatin binding  transcription coactivator activity  protein binding  nucleus  nucleoplasm  nucleoplasm  plasma membrane  DNA repair  DNA recombination  chromatin remodeling  chromatin remodeling  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  signal transduction  SWI/SNF complex  protein deubiquitination  spinal cord development  Ino80 complex  nucleosomal DNA binding  NuA4 histone acetyltransferase complex  regulation of growth  ATP-dependent chromatin remodeling  protein complex  histone H4 acetylation  histone H2A acetylation  npBAF complex  npBAF complex  regulation of mitophagy  positive regulation of protein targeting to mitochondrion  
Ontology : EGO-EBInuclear chromatin  RNA polymerase II core promoter proximal region sequence-specific DNA binding  RNA polymerase II distal enhancer sequence-specific DNA binding  neural retina development  chromatin binding  transcription coactivator activity  protein binding  nucleus  nucleoplasm  nucleoplasm  plasma membrane  DNA repair  DNA recombination  chromatin remodeling  chromatin remodeling  transcription, DNA-templated  regulation of transcription from RNA polymerase II promoter  signal transduction  SWI/SNF complex  protein deubiquitination  spinal cord development  Ino80 complex  nucleosomal DNA binding  NuA4 histone acetyltransferase complex  regulation of growth  ATP-dependent chromatin remodeling  protein complex  histone H4 acetylation  histone H2A acetylation  npBAF complex  npBAF complex  regulation of mitophagy  positive regulation of protein targeting to mitochondrion  
Pathways : BIOCARTAControl of Gene Expression by Vitamin D Receptor [Genes]   
NDEx NetworkACTL6A
Atlas of Cancer Signalling NetworkACTL6A
Wikipedia pathwaysACTL6A
Orthology - Evolution
OrthoDB86
GeneTree (enSembl)ENSG00000136518
Phylogenetic Trees/Animal Genes : TreeFamACTL6A
HOVERGENO96019
HOGENOMO96019
Homologs : HomoloGeneACTL6A
Homology/Alignments : Family Browser (UCSC)ACTL6A
Gene fusions - Rearrangements
Fusion : MitelmanACTL6A/ALG3 [3q26.33/3q27.1]  
Fusion: TCGAACTL6A 3q26.33 ALG3 3q27.1 HNSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACTL6A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACTL6A
dbVarACTL6A
ClinVarACTL6A
1000_GenomesACTL6A 
Exome Variant ServerACTL6A
ExAC (Exome Aggregation Consortium)ACTL6A (select the gene name)
Genetic variants : HAPMAP86
Genomic Variants (DGV)ACTL6A [DGVbeta]
DECIPHERACTL6A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACTL6A 
Mutations
ICGC Data PortalACTL6A 
TCGA Data PortalACTL6A 
Broad Tumor PortalACTL6A
OASIS PortalACTL6A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACTL6A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDACTL6A
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 ACTL6A
DgiDB (Drug Gene Interaction Database)ACTL6A
DoCM (Curated mutations)ACTL6A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACTL6A (select a term)
intoGenACTL6A
Cancer3DACTL6A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604958   
Orphanet
MedgenACTL6A
Genetic Testing Registry ACTL6A
NextProtO96019 [Medical]
TSGene86
GENETestsACTL6A
Target ValidationACTL6A
Huge Navigator ACTL6A [HugePedia]
snp3D : Map Gene to Disease86
BioCentury BCIQACTL6A
ClinGenACTL6A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD86
Chemical/Pharm GKB GenePA134914203
Clinical trialACTL6A
Miscellaneous
canSAR (ICR)ACTL6A (select the gene name)
Probes
Litterature
PubMed96 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACTL6A
EVEXACTL6A
GoPubMedACTL6A
iHOPACTL6A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Wed Jun 7 12:22:37 CEST 2017

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