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ABCA9 (ATP binding cassette subfamily A member 9)

Identity

Alias (NCBI)EST640918
HGNC (Hugo) ABCA9
HGNC Alias symbEST640918
HGNC Previous nameATP-binding cassette, sub-family A (ABC1), member 9
LocusID (NCBI) 10350
Atlas_Id 60034
Location 17q24.2  [Link to chromosome band 17q24]
Location_base_pair Starts at 68974488 and ends at 69060927 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)
MED13 (17q23.2) / ABCA9 (17q24.2)SOBP (6q21) / ABCA9 (17q24.2)MED13 ABCA9
SOBP ABCA9

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)ABCA9   39
Cards
Entrez_Gene (NCBI)ABCA9    ATP binding cassette subfamily A member 9
AliasesEST640918
GeneCards (Weizmann)ABCA9
Ensembl hg19 (Hinxton)ENSG00000154258 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154258 [Gene_View]  ENSG00000154258 [Sequence]  chr17:68974488-69060927 [Contig_View]  ABCA9 [Vega]
ICGC DataPortalENSG00000154258
TCGA cBioPortalABCA9
AceView (NCBI)ABCA9
Genatlas (Paris)ABCA9
SOURCE (Princeton)ABCA9
Genetics Home Reference (NIH)ABCA9
Genomic and cartography
GoldenPath hg38 (UCSC)ABCA9  -     chr17:68974488-69060927 -  17q24.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ABCA9  -     17q24.2   [Description]    (hg19-Feb_2009)
GoldenPathABCA9 - 17q24.2 [CytoView hg19]  ABCA9 - 17q24.2 [CytoView hg38]
ImmunoBaseENSG00000154258
Genome Data Viewer NCBIABCA9 [Mapview hg19]  
OMIM612507   
Gene and transcription
Genbank (Entrez)AF423307 AK057068 AK074491 AK122687 AL833712
RefSeq transcript (Entrez)NM_080283 NM_172386
Consensus coding sequences : CCDS (NCBI)ABCA9
Gene ExpressionABCA9 [ NCBI-GEO ]   ABCA9 [ EBI - ARRAY_EXPRESS ]   ABCA9 [ SEEK ]   ABCA9 [ MEM ]
Gene Expression Viewer (FireBrowse)ABCA9 [ Firebrowse - Broad ]
GenevisibleExpression of ABCA9 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10350
GTEX Portal (Tissue expression)ABCA9
Human Protein AtlasENSG00000154258-ABCA9 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IUA7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IUA7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IUA7
PhosPhoSitePlusQ8IUA7
Domaine pattern : Prosite (Expaxy)ABC_TRANSPORTER_2 (PS50893)   
Domains : Interpro (EBI)AAA+_ATPase    ABC_transporter-like    ABCA    ABCA9    P-loop_NTPase   
Domain families : Pfam (Sanger)ABC_tran (PF00005)   
Domain families : Pfam (NCBI)pfam00005   
Domain families : Smart (EMBL)AAA (SM00382)  
Conserved Domain (NCBI)ABCA9
SuperfamilyQ8IUA7
AlphaFold pdb e-kbQ8IUA7   
Human Protein Atlas [tissue]ENSG00000154258-ABCA9 [tissue]
HPRD12401
Protein Interaction databases
DIP (DOE-UCLA)Q8IUA7
IntAct (EBI)Q8IUA7
BioGRIDABCA9
STRING (EMBL)ABCA9
ZODIACABCA9
Ontologies - Pathways
QuickGOQ8IUA7
Ontology : AmiGOlipid transporter activity  ATP binding  lipid transport  integral component of membrane  ATPase-coupled transmembrane transporter activity  intracellular membrane-bounded organelle  transmembrane transport  
Ontology : EGO-EBIlipid transporter activity  ATP binding  lipid transport  integral component of membrane  ATPase-coupled transmembrane transporter activity  intracellular membrane-bounded organelle  transmembrane transport  
NDEx NetworkABCA9
Atlas of Cancer Signalling NetworkABCA9
Wikipedia pathwaysABCA9
Orthology - Evolution
OrthoDB10350
GeneTree (enSembl)ENSG00000154258
Phylogenetic Trees/Animal Genes : TreeFamABCA9
Homologs : HomoloGeneABCA9
Homology/Alignments : Family Browser (UCSC)ABCA9
Gene fusions - Rearrangements
Fusion : QuiverABCA9
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerABCA9 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ABCA9
dbVarABCA9
ClinVarABCA9
MonarchABCA9
1000_GenomesABCA9 
Exome Variant ServerABCA9
GNOMAD BrowserENSG00000154258
Varsome BrowserABCA9
ACMGABCA9 variants
VarityQ8IUA7
Genomic Variants (DGV)ABCA9 [DGVbeta]
DECIPHERABCA9 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisABCA9 
Mutations
ICGC Data PortalABCA9 
TCGA Data PortalABCA9 
Broad Tumor PortalABCA9
OASIS PortalABCA9 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICABCA9  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DABCA9
Mutations and Diseases : HGMDABCA9
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaABCA9
DgiDB (Drug Gene Interaction Database)ABCA9
DoCM (Curated mutations)ABCA9
CIViC (Clinical Interpretations of Variants in Cancer)ABCA9
Cancer3DABCA9
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM612507   
Orphanet
DisGeNETABCA9
MedgenABCA9
Genetic Testing Registry ABCA9
NextProtQ8IUA7 [Medical]
GENETestsABCA9
Target ValidationABCA9
Huge Navigator ABCA9 [HugePedia]
ClinGenABCA9
Clinical trials, drugs, therapy
MyCancerGenomeABCA9
Protein Interactions : CTDABCA9
Pharm GKB GenePA24384
PharosQ8IUA7
Clinical trialABCA9
Miscellaneous
canSAR (ICR)ABCA9
HarmonizomeABCA9
DataMed IndexABCA9
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXABCA9
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:41:11 CEST 2021

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