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ABCB8 (ATP binding cassette subfamily B member 8)

Identity

Alias_namesATP-binding cassette
Alias_symbol (synonym)EST328128
M-ABC1
MABC1
Other alias
HGNC (Hugo) ABCB8
LocusID (NCBI) 11194
Atlas_Id 50723
Location 7q36.1  [Link to chromosome band 7q36]
Location_base_pair Starts at 150725509 and ends at 150744869 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABCB8 (7q36.1) / ABCB8 (7q36.1)ABCB8 (7q36.1) / NOS3 (7q36.1)NUB1 (7q36.1) / ABCB8 (7q36.1)
ABCB8 7q36.1 / NOS3 7q36.1NUB1 7q36.1 / ABCB8 7q36.1

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)ABCB8   49
Cards
Entrez_Gene (NCBI)ABCB8  11194  ATP binding cassette subfamily B member 8
AliasesEST328128; M-ABC1; MABC1
GeneCards (Weizmann)ABCB8
Ensembl hg19 (Hinxton)ENSG00000197150 [Gene_View]  chr7:150725509-150744869 [Contig_View]  ABCB8 [Vega]
Ensembl hg38 (Hinxton)ENSG00000197150 [Gene_View]  chr7:150725509-150744869 [Contig_View]  ABCB8 [Vega]
ICGC DataPortalENSG00000197150
TCGA cBioPortalABCB8
AceView (NCBI)ABCB8
Genatlas (Paris)ABCB8
WikiGenes11194
SOURCE (Princeton)ABCB8
Genetics Home Reference (NIH)ABCB8
Genomic and cartography
GoldenPath hg19 (UCSC)ABCB8  -     chr7:150725509-150744869 +  7q36.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ABCB8  -     7q36.1   [Description]    (hg38-Dec_2013)
EnsemblABCB8 - 7q36.1 [CytoView hg19]  ABCB8 - 7q36.1 [CytoView hg38]
Mapping of homologs : NCBIABCB8 [Mapview hg19]  ABCB8 [Mapview hg38]
OMIM605464   
Gene and transcription
Genbank (Entrez)AF047690 AF086382 AK002018 AK024401 AK094005
RefSeq transcript (Entrez)NM_001282291 NM_001282292 NM_001282293 NM_007188
RefSeq genomic (Entrez)NC_000007 NC_018918 NT_007933 NW_004929333
Consensus coding sequences : CCDS (NCBI)ABCB8
Cluster EST : UnigeneHs.647118 [ NCBI ]
CGAP (NCI)Hs.647118
Alternative Splicing GalleryENSG00000197150
Gene ExpressionABCB8 [ NCBI-GEO ]   ABCB8 [ EBI - ARRAY_EXPRESS ]   ABCB8 [ SEEK ]   ABCB8 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCB8 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)11194
GTEX Portal (Tissue expression)ABCB8
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NUT2   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NUT2  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NUT2
Splice isoforms : SwissVarQ9NUT2
PhosPhoSitePlusQ9NUT2
Domaine pattern : Prosite (Expaxy)ABC_TM1F (PS50929)    ABC_TRANSPORTER_1 (PS00211)    ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC1_TM_dom    ABC_transporter-like    ABC_transporter_CS    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_membrane (PF00664)    ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00664    pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCB8
DMDM Disease mutations11194
Blocks (Seattle)ABCB8
SuperfamilyQ9NUT2
Human Protein AtlasENSG00000197150
Peptide AtlasQ9NUT2
HPRD10400
IPIIPI00019022   IPI00719730   IPI01011632   IPI00443945   IPI00383931   IPI00946641   IPI00947012   IPI00946831   IPI00946428   IPI00945897   IPI00947146   IPI00946804   
Protein Interaction databases
DIP (DOE-UCLA)Q9NUT2
IntAct (EBI)Q9NUT2
FunCoupENSG00000197150
BioGRIDABCB8
STRING (EMBL)ABCB8
ZODIACABCB8
Ontologies - Pathways
QuickGOQ9NUT2
Ontology : AmiGOtransporter activity  ATP binding  nucleus  nucleolus  mitochondrion  mitochondrial envelope  mitochondrial inner membrane  transport  metabolic process  membrane  ATPase activity, coupled to transmembrane movement of substances  ATP-binding cassette (ABC) transporter complex  transmembrane transport  
Ontology : EGO-EBItransporter activity  ATP binding  nucleus  nucleolus  mitochondrion  mitochondrial envelope  mitochondrial inner membrane  transport  metabolic process  membrane  ATPase activity, coupled to transmembrane movement of substances  ATP-binding cassette (ABC) transporter complex  transmembrane transport  
Pathways : KEGGABC transporters   
NDEx NetworkABCB8
Atlas of Cancer Signalling NetworkABCB8
Wikipedia pathwaysABCB8
Orthology - Evolution
OrthoDB11194
GeneTree (enSembl)ENSG00000197150
Phylogenetic Trees/Animal Genes : TreeFamABCB8
HOVERGENQ9NUT2
HOGENOMQ9NUT2
Homologs : HomoloGeneABCB8
Homology/Alignments : Family Browser (UCSC)ABCB8
Gene fusions - Rearrangements
Fusion : MitelmanABCB8/NOS3 [7q36.1/7q36.1]  
Fusion : MitelmanNUB1/ABCB8 [7q36.1/7q36.1]  [t(7;7)(q36;q36)]  
Fusion: TCGAABCB8 7q36.1 NOS3 7q36.1 BRCA LUAD
Fusion: TCGANUB1 7q36.1 ABCB8 7q36.1 LUSC
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCB8 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCB8
dbVarABCB8
ClinVarABCB8
1000_GenomesABCB8 
Exome Variant ServerABCB8
ExAC (Exome Aggregation Consortium)ABCB8 (select the gene name)
Genetic variants : HAPMAP11194
Genomic Variants (DGV)ABCB8 [DGVbeta]
DECIPHER (Syndromes)7:150725509-150744869  ENSG00000197150
CONAN: Copy Number AnalysisABCB8 
Mutations
ICGC Data PortalABCB8 
TCGA Data PortalABCB8 
Broad Tumor PortalABCB8
OASIS PortalABCB8 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCB8  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCB8
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch ABCB8
DgiDB (Drug Gene Interaction Database)ABCB8
DoCM (Curated mutations)ABCB8 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCB8 (select a term)
intoGenABCB8
Cancer3DABCB8(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605464   
Orphanet
MedgenABCB8
Genetic Testing Registry ABCB8
NextProtQ9NUT2 [Medical]
TSGene11194
GENETestsABCB8
Huge Navigator ABCB8 [HugePedia]
snp3D : Map Gene to Disease11194
BioCentury BCIQABCB8
ClinGenABCB8
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD11194
Chemical/Pharm GKB GenePA24390
Clinical trialABCB8
Miscellaneous
canSAR (ICR)ABCB8 (select the gene name)
Probes
Litterature
PubMed26 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCB8
EVEXABCB8
GoPubMedABCB8
iHOPABCB8
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:54:26 CET 2017

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