Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ACBD6 (acyl-CoA binding domain containing 6)

Identity

Alias_namesacyl-Coenzyme A binding domain containing 6
Alias_symbol (synonym)MGC2404
Other alias-
HGNC (Hugo) ACBD6
LocusID (NCBI) 84320
Atlas_Id 52966
Location 1q25.2  [Link to chromosome band 1q25]
Location_base_pair Starts at 180288217 and ends at 180502887 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)
ACBD6 (1q25.2) / IVNS1ABP (1q25.3)ACBD6 (1q25.2) / PGBD2 (1q44)ACBD6 (1q25.2) / RRP15 (1q41)
ACBD6 (1q25.2) / WDR91 (7q33)RABGAP1L (1q25.1) / ACBD6 (1q25.2)TOR1AIP2 (1q25.2) / ACBD6 (1q25.2)
TSEN15 (1q25.3) / ACBD6 (1q25.2)TUFT1 (1q21.3) / ACBD6 (1q25.2)ACBD6 1q25.2-q25.3 RRP15
ACBD6 1q25.2 / IVNS1ABP 1q25.3ACBD6 1q25.2 / PGBD2 1q44RABGAP1L 1q25.1 / ACBD6 1q25.2
TOR1AIP2 1q25.2 / ACBD6 1q25.2TSEN15 1q25.3 / ACBD6 1q25.2

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) [ 4 ]
  t(1;1)(q25;q25) ACBD6/IVNS1ABP
t(1;1)(q25;q25) RABGAP1L/ACBD6
t(1;1)(q25;q25) TSEN15/ACBD6
t(1;1)(q25;q25) TOR1AIP2/ACBD6

External links

Nomenclature
HGNC (Hugo)ACBD6   23339
Cards
Entrez_Gene (NCBI)ACBD6  84320  acyl-CoA binding domain containing 6
Aliases
GeneCards (Weizmann)ACBD6
Ensembl hg19 (Hinxton)ENSG00000230124 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000230124 [Gene_View]  ENSG00000230124 [Sequence]  chr1:180288217-180502887 [Contig_View]  ACBD6 [Vega]
ICGC DataPortalENSG00000230124
TCGA cBioPortalACBD6
AceView (NCBI)ACBD6
Genatlas (Paris)ACBD6
WikiGenes84320
SOURCE (Princeton)ACBD6
Genetics Home Reference (NIH)ACBD6
Genomic and cartography
GoldenPath hg38 (UCSC)ACBD6  -     chr1:180288217-180502887 -  1q25.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ACBD6  -     1q25.2   [Description]    (hg19-Feb_2009)
EnsemblACBD6 - 1q25.2 [CytoView hg19]  ACBD6 - 1q25.2 [CytoView hg38]
Mapping of homologs : NCBIACBD6 [Mapview hg19]  ACBD6 [Mapview hg38]
OMIM616352   
Gene and transcription
Genbank (Entrez)AA085012 AK314112 AL537685 AL561590 AY606133
RefSeq transcript (Entrez)NM_032360
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ACBD6
Cluster EST : UnigeneHs.200051 [ NCBI ]
CGAP (NCI)Hs.200051
Alternative Splicing GalleryENSG00000230124
Gene ExpressionACBD6 [ NCBI-GEO ]   ACBD6 [ EBI - ARRAY_EXPRESS ]   ACBD6 [ SEEK ]   ACBD6 [ MEM ]
Gene Expression Viewer (FireBrowse)ACBD6 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)84320
GTEX Portal (Tissue expression)ACBD6
Human Protein AtlasENSG00000230124-ACBD6 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BR61   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BR61  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BR61
Splice isoforms : SwissVarQ9BR61
PhosPhoSitePlusQ9BR61
Domaine pattern : Prosite (Expaxy)ACB_2 (PS51228)    ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Acyl-CoA-binding_protein    Ankyrin_rpt    Ankyrin_rpt-contain_dom    FERM/acyl-CoA-bd_prot_3-hlx   
Domain families : Pfam (Sanger)ACBP (PF00887)    Ank_2 (PF12796)   
Domain families : Pfam (NCBI)pfam00887    pfam12796   
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)ACBD6
DMDM Disease mutations84320
Blocks (Seattle)ACBD6
PDB (SRS)2COP   
PDB (PDBSum)2COP   
PDB (IMB)2COP   
PDB (RSDB)2COP   
Structural Biology KnowledgeBase2COP   
SCOP (Structural Classification of Proteins)2COP   
CATH (Classification of proteins structures)2COP   
SuperfamilyQ9BR61
Human Protein Atlas [tissue]ENSG00000230124-ACBD6 [tissue]
Peptide AtlasQ9BR61
HPRD12416
IPIIPI00031680   
Protein Interaction databases
DIP (DOE-UCLA)Q9BR61
IntAct (EBI)Q9BR61
FunCoupENSG00000230124
BioGRIDACBD6
STRING (EMBL)ACBD6
ZODIACACBD6
Ontologies - Pathways
QuickGOQ9BR61
Ontology : AmiGOfatty-acyl-CoA binding  cytosol  acyl-CoA metabolic process  lipid binding  
Ontology : EGO-EBIfatty-acyl-CoA binding  cytosol  acyl-CoA metabolic process  lipid binding  
NDEx NetworkACBD6
Atlas of Cancer Signalling NetworkACBD6
Wikipedia pathwaysACBD6
Orthology - Evolution
OrthoDB84320
GeneTree (enSembl)ENSG00000230124
Phylogenetic Trees/Animal Genes : TreeFamACBD6
HOVERGENQ9BR61
HOGENOMQ9BR61
Homologs : HomoloGeneACBD6
Homology/Alignments : Family Browser (UCSC)ACBD6
Gene fusions - Rearrangements
Fusion : MitelmanACBD6/IVNS1ABP [1q25.2/1q25.3]  
Fusion : MitelmanACBD6/PGBD2 [1q25.2/1q44]  [t(1;1)(q25;q44)]  
Fusion : MitelmanACBD6/RRP15 [1q25.2/1q41]  [t(1;1)(q25;q41)]  
Fusion : MitelmanRABGAP1L/ACBD6 [1q25.1/1q25.2]  [t(1;1)(q25;q25)]  
Fusion : MitelmanTOR1AIP2/ACBD6 [1q25.2/1q25.2]  [t(1;1)(q25;q25)]  
Fusion : MitelmanTSEN15/ACBD6 [1q25.3/1q25.2]  [t(1;1)(q25;q25)]  
Fusion PortalACBD6 1q25.2 IVNS1ABP 1q25.3 BRCA
Fusion PortalACBD6 1q25.2 PGBD2 1q44 BRCA
Fusion PortalRABGAP1L 1q25.1 ACBD6 1q25.2 BRCA
Fusion PortalTOR1AIP2 1q25.2 ACBD6 1q25.2 OV
Fusion PortalTSEN15 1q25.3 ACBD6 1q25.2 LUAD
Fusion : QuiverACBD6
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerACBD6 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ACBD6
dbVarACBD6
ClinVarACBD6
1000_GenomesACBD6 
Exome Variant ServerACBD6
ExAC (Exome Aggregation Consortium)ENSG00000230124
GNOMAD BrowserENSG00000230124
Genetic variants : HAPMAP84320
Genomic Variants (DGV)ACBD6 [DGVbeta]
DECIPHERACBD6 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisACBD6 
Mutations
ICGC Data PortalACBD6 
TCGA Data PortalACBD6 
Broad Tumor PortalACBD6
OASIS PortalACBD6 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICACBD6  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDACBD6
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 ACBD6
DgiDB (Drug Gene Interaction Database)ACBD6
DoCM (Curated mutations)ACBD6 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ACBD6 (select a term)
intoGenACBD6
Cancer3DACBD6(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM616352   
Orphanet
DisGeNETACBD6
MedgenACBD6
Genetic Testing Registry ACBD6
NextProtQ9BR61 [Medical]
TSGene84320
GENETestsACBD6
Target ValidationACBD6
Huge Navigator ACBD6 [HugePedia]
snp3D : Map Gene to Disease84320
BioCentury BCIQACBD6
ClinGenACBD6
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD84320
Chemical/Pharm GKB GenePA134925459
Clinical trialACBD6
Miscellaneous
canSAR (ICR)ACBD6 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineACBD6
EVEXACBD6
GoPubMedACBD6
iHOPACBD6
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 : Fri Jun 22 16:12:41 CEST 2018
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