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ABCB7 (ATP binding cassette subfamily B member 7)

Identity

Alias_namesABC7
ATP-binding cassette, sub-family B (MDR/TAP), member 7
Alias_symbol (synonym)EST140535
Atm1p
ASAT
Other alias
HGNC (Hugo) ABCB7
LocusID (NCBI) 22
Atlas_Id 60035
Location Xq13.3  [Link to chromosome band Xq13]
Location_base_pair Starts at 75053172 and ends at 75156340 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CHM (Xq21.2) / ABCB7 (Xq13.3)LUZP2 (11p14.3) / ABCB7 (Xq13.3)

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)ABCB7   48
Cards
Entrez_Gene (NCBI)ABCB7  22  ATP binding cassette subfamily B member 7
AliasesABC7; ASAT; Atm1p; EST140535
GeneCards (Weizmann)ABCB7
Ensembl hg19 (Hinxton)ENSG00000131269 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000131269 [Gene_View]  chrX:75053172-75156340 [Contig_View]  ABCB7 [Vega]
ICGC DataPortalENSG00000131269
TCGA cBioPortalABCB7
AceView (NCBI)ABCB7
Genatlas (Paris)ABCB7
WikiGenes22
SOURCE (Princeton)ABCB7
Genetics Home Reference (NIH)ABCB7
Genomic and cartography
GoldenPath hg38 (UCSC)ABCB7  -     chrX:75053172-75156340 -  Xq13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCB7  -     Xq13.3   [Description]    (hg19-Feb_2009)
EnsemblABCB7 - Xq13.3 [CytoView hg19]  ABCB7 - Xq13.3 [CytoView hg38]
Mapping of homologs : NCBIABCB7 [Mapview hg19]  ABCB7 [Mapview hg38]
OMIM300135   301310   
Gene and transcription
Genbank (Entrez)AF038950 AF078777 AF133659 AK001418 AK294657
RefSeq transcript (Entrez)NM_001271696 NM_001271697 NM_001271698 NM_001271699 NM_004299
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ABCB7
Cluster EST : UnigeneHs.370480 [ NCBI ]
CGAP (NCI)Hs.370480
Alternative Splicing GalleryENSG00000131269
Gene ExpressionABCB7 [ NCBI-GEO ]   ABCB7 [ EBI - ARRAY_EXPRESS ]   ABCB7 [ SEEK ]   ABCB7 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCB7 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)22
GTEX Portal (Tissue expression)ABCB7
Protein : pattern, domain, 3D structure
UniProt/SwissProtO75027   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO75027  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO75027
Splice isoforms : SwissVarO75027
PhosPhoSitePlusO75027
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)ABCB7
DMDM Disease mutations22
Blocks (Seattle)ABCB7
SuperfamilyO75027
Human Protein AtlasENSG00000131269
Peptide AtlasO75027
HPRD02137
IPIIPI00306748   IPI00556553   IPI00981292   IPI00384999   IPI00979190   IPI00979825   
Protein Interaction databases
DIP (DOE-UCLA)O75027
IntAct (EBI)O75027
FunCoupENSG00000131269
BioGRIDABCB7
STRING (EMBL)ABCB7
ZODIACABCB7
Ontologies - Pathways
QuickGOO75027
Ontology : AmiGOATP binding  mitochondrial inner membrane  mitochondrial inner membrane  transport  cellular iron ion homeostasis  heme transporter activity  heme transport  integral component of membrane  ATPase activity, coupled to transmembrane movement of substances  transmembrane transport  
Ontology : EGO-EBIATP binding  mitochondrial inner membrane  mitochondrial inner membrane  transport  cellular iron ion homeostasis  heme transporter activity  heme transport  integral component of membrane  ATPase activity, coupled to transmembrane movement of substances  transmembrane transport  
Pathways : KEGGABC transporters   
NDEx NetworkABCB7
Atlas of Cancer Signalling NetworkABCB7
Wikipedia pathwaysABCB7
Orthology - Evolution
OrthoDB22
GeneTree (enSembl)ENSG00000131269
Phylogenetic Trees/Animal Genes : TreeFamABCB7
HOVERGENO75027
HOGENOMO75027
Homologs : HomoloGeneABCB7
Homology/Alignments : Family Browser (UCSC)ABCB7
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCB7 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCB7
dbVarABCB7
ClinVarABCB7
1000_GenomesABCB7 
Exome Variant ServerABCB7
ExAC (Exome Aggregation Consortium)ABCB7 (select the gene name)
Genetic variants : HAPMAP22
Genomic Variants (DGV)ABCB7 [DGVbeta]
DECIPHERABCB7 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCB7 
Mutations
ICGC Data PortalABCB7 
TCGA Data PortalABCB7 
Broad Tumor PortalABCB7
OASIS PortalABCB7 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCB7  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDABCB7
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 ABCB7
DgiDB (Drug Gene Interaction Database)ABCB7
DoCM (Curated mutations)ABCB7 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ABCB7 (select a term)
intoGenABCB7
Cancer3DABCB7(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM300135    301310   
Orphanet2545   
MedgenABCB7
Genetic Testing Registry ABCB7
NextProtO75027 [Medical]
TSGene22
GENETestsABCB7
Target ValidationABCB7
Huge Navigator ABCB7 [HugePedia]
snp3D : Map Gene to Disease22
BioCentury BCIQABCB7
ClinGenABCB7
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD22
Chemical/Pharm GKB GenePA24389
Clinical trialABCB7
Miscellaneous
canSAR (ICR)ABCB7 (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineABCB7
EVEXABCB7
GoPubMedABCB7
iHOPABCB7
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:08:39 CEST 2017

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