Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

ABCA8 (ATP binding cassette subfamily A member 8)

Identity

Other alias-
HGNC (Hugo) ABCA8
LocusID (NCBI) 10351
Atlas_Id 56940
Location 17q24.2  [Link to chromosome band 17q24]
Location_base_pair Starts at 68867287 and ends at 68955392 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)
ABCA8 (17q24.2) / HMGCS1 (5p12)BCAS3 (17q23.2) / ABCA8 (17q24.2)GOLGA2 (9q34.11) / ABCA8 (17q24.2)
LOC100131564 () / ABCA8 (17q24.2)RAC3 (17q25.3) / ABCA8 (17q24.2)SKIV2L (6p21.33) / ABCA8 (17q24.2)

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

 


External links

Nomenclature
HGNC (Hugo)ABCA8   38
Cards
Entrez_Gene (NCBI)ABCA8  10351  ATP binding cassette subfamily A member 8
Aliases
GeneCards (Weizmann)ABCA8
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr17:68867287-68955392 [Contig_View]  ABCA8 [Vega]
TCGA cBioPortalABCA8
AceView (NCBI)ABCA8
Genatlas (Paris)ABCA8
WikiGenes10351
SOURCE (Princeton)ABCA8
Genetics Home Reference (NIH)ABCA8
Genomic and cartography
GoldenPath hg38 (UCSC)ABCA8  -     chr17:68867287-68955392 -  17q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCA8  -     17q24.2   [Description]    (hg19-Feb_2009)
EnsemblABCA8 - 17q24.2 [CytoView hg19]  ABCA8 - 17q24.2 [CytoView hg38]
Mapping of homologs : NCBIABCA8 [Mapview hg19]  ABCA8 [Mapview hg38]
OMIM612505   
Gene and transcription
Genbank (Entrez)AA448212 AB020629 AK090894 AK295876 AK304286
RefSeq transcript (Entrez)NM_001288985 NM_001288986 NM_007168
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCA8
Cluster EST : UnigeneHs.58351 [ NCBI ]
CGAP (NCI)Hs.58351
Gene ExpressionABCA8 [ NCBI-GEO ]   ABCA8 [ EBI - ARRAY_EXPRESS ]   ABCA8 [ SEEK ]   ABCA8 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCA8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10351
GTEX Portal (Tissue expression)ABCA8
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94911   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94911  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94911
Splice isoforms : SwissVarO94911
PhosPhoSitePlusO94911
Domaine pattern : Prosite (Expaxy)ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC_A    ABC_transporter-like    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCA8
DMDM Disease mutations10351
Blocks (Seattle)ABCA8
SuperfamilyO94911
Peptide AtlasO94911
IPIIPI00479296   IPI00788074   IPI00952884   IPI01009606   IPI00644251   IPI00977037   
Protein Interaction databases
DIP (DOE-UCLA)O94911
IntAct (EBI)O94911
BioGRIDABCA8
STRING (EMBL)ABCA8
ZODIACABCA8
Ontologies - Pathways
QuickGOO94911
Ontology : AmiGOATP binding  mitochondrial inner membrane  plasma membrane  transport  drug transmembrane transport  lipid transport  xenobiotic-transporting ATPase activity  integral component of membrane  ATPase activity, coupled to transmembrane movement of substances  xenobiotic transport  transmembrane transport  
Ontology : EGO-EBIATP binding  mitochondrial inner membrane  plasma membrane  transport  drug transmembrane transport  lipid transport  xenobiotic-transporting ATPase activity  integral component of membrane  ATPase activity, coupled to transmembrane movement of substances  xenobiotic transport  transmembrane transport  
Pathways : KEGGABC transporters   
NDEx NetworkABCA8
Atlas of Cancer Signalling NetworkABCA8
Wikipedia pathwaysABCA8
Orthology - Evolution
OrthoDB10351
Phylogenetic Trees/Animal Genes : TreeFamABCA8
HOVERGENO94911
HOGENOMO94911
Homologs : HomoloGeneABCA8
Homology/Alignments : Family Browser (UCSC)ABCA8
Gene fusions - Rearrangements
Tumor Fusion PortalABCA8
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCA8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCA8
dbVarABCA8
ClinVarABCA8
1000_GenomesABCA8 
Exome Variant ServerABCA8
ExAC (Exome Aggregation Consortium)
Genetic variants : HAPMAP10351
Genomic Variants (DGV)ABCA8 [DGVbeta]
DECIPHERABCA8 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCA8 
Mutations
ICGC Data PortalABCA8 
TCGA Data PortalABCA8 
Broad Tumor PortalABCA8
OASIS PortalABCA8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCA8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCA8
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 ABCA8
DgiDB (Drug Gene Interaction Database)ABCA8
DoCM (Curated mutations)ABCA8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCA8 (select a term)
intoGenABCA8
Cancer3DABCA8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612505   
Orphanet
DisGeNETABCA8
MedgenABCA8
Genetic Testing Registry ABCA8
NextProtO94911 [Medical]
TSGene10351
GENETestsABCA8
Target ValidationABCA8
Huge Navigator ABCA8 [HugePedia]
snp3D : Map Gene to Disease10351
BioCentury BCIQABCA8
ClinGenABCA8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10351
Chemical/Pharm GKB GenePA24383
Clinical trialABCA8
Miscellaneous
canSAR (ICR)ABCA8 (select the gene name)
Probes
Litterature
PubMed19 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCA8
EVEXABCA8
GoPubMedABCA8
iHOPABCA8
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 : Tue Nov 21 14:01:37 CET 2017

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.