Atlas of Genetics and Cytogenetics in Oncology and Haematology


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ALX1 (ALX homeobox 1)

Identity

Alias_namesCART1
cartilage paired-class homeoprotein 1
Other aliasFND3
HEL23
HGNC (Hugo) ALX1
LocusID (NCBI) 8092
Atlas_Id 53788
Location 12q21.31  [Link to chromosome band 12q21]
Location_base_pair Starts at 85674036 and ends at 85695561 bp from pter ( according to hg19-Feb_2009)

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)ALX1   1494
Cards
Entrez_Gene (NCBI)ALX1  8092  ALX homeobox 1
AliasesCART1; FND3; HEL23
GeneCards (Weizmann)ALX1
Ensembl hg19 (Hinxton)ENSG00000180318 [Gene_View]  chr12:85674036-85695561 [Contig_View]  ALX1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000180318 [Gene_View]  chr12:85674036-85695561 [Contig_View]  ALX1 [Vega]
ICGC DataPortalENSG00000180318
TCGA cBioPortalALX1
AceView (NCBI)ALX1
Genatlas (Paris)ALX1
WikiGenes8092
SOURCE (Princeton)ALX1
Genetics Home Reference (NIH)ALX1
Genomic and cartography
GoldenPath hg19 (UCSC)ALX1  -     chr12:85674036-85695561 +  12q21.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)ALX1  -     12q21.31   [Description]    (hg38-Dec_2013)
EnsemblALX1 - 12q21.31 [CytoView hg19]  ALX1 - 12q21.31 [CytoView hg38]
Mapping of homologs : NCBIALX1 [Mapview hg19]  ALX1 [Mapview hg38]
OMIM601527   613456   
Gene and transcription
Genbank (Entrez)BC010923 EU794597 U31986
RefSeq transcript (Entrez)NM_006982
RefSeq genomic (Entrez)NC_000012 NC_018923 NG_023202 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)ALX1
Cluster EST : UnigeneHs.41683 [ NCBI ]
CGAP (NCI)Hs.41683
Alternative Splicing GalleryENSG00000180318
Gene ExpressionALX1 [ NCBI-GEO ]   ALX1 [ EBI - ARRAY_EXPRESS ]   ALX1 [ SEEK ]   ALX1 [ MEM ]
Gene Expression Viewer (FireBrowse)ALX1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)8092
GTEX Portal (Tissue expression)ALX1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ15699   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ15699  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ15699
Splice isoforms : SwissVarQ15699
PhosPhoSitePlusQ15699
Domaine pattern : Prosite (Expaxy)HOMEOBOX_1 (PS00027)    HOMEOBOX_2 (PS50071)    OAR (PS50803)   
Domains : Interpro (EBI)Homeobox_CS    Homeobox_dom    Homeodomain-like    OAR_dom   
Domain families : Pfam (Sanger)Homeobox (PF00046)    OAR (PF03826)   
Domain families : Pfam (NCBI)pfam00046    pfam03826   
Domain families : Smart (EMBL)HOX (SM00389)  
Conserved Domain (NCBI)ALX1
DMDM Disease mutations8092
Blocks (Seattle)ALX1
SuperfamilyQ15699
Human Protein AtlasENSG00000180318
Peptide AtlasQ15699
HPRD03316
IPIIPI00018956   
Protein Interaction databases
DIP (DOE-UCLA)Q15699
IntAct (EBI)Q15699
FunCoupENSG00000180318
BioGRIDALX1
STRING (EMBL)ALX1
ZODIACALX1
Ontologies - Pathways
QuickGOQ15699
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  cartilage condensation  neural tube closure  transcription factor activity, sequence-specific DNA binding  transcription corepressor activity  protein binding  nucleus  nucleoplasm  transcription factor complex  Golgi apparatus  transcription from RNA polymerase II promoter  multicellular organism development  anterior/posterior pattern specification  positive regulation of epithelial to mesenchymal transition  mesenchymal cell development  embryonic limb morphogenesis  protein homodimerization activity  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  embryonic skeletal system morphogenesis  palate development  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  RNA polymerase II regulatory region sequence-specific DNA binding  transcriptional activator activity, RNA polymerase II transcription regulatory region sequence-specific binding  cartilage condensation  neural tube closure  transcription factor activity, sequence-specific DNA binding  transcription corepressor activity  protein binding  nucleus  nucleoplasm  transcription factor complex  Golgi apparatus  transcription from RNA polymerase II promoter  multicellular organism development  anterior/posterior pattern specification  positive regulation of epithelial to mesenchymal transition  mesenchymal cell development  embryonic limb morphogenesis  protein homodimerization activity  positive regulation of transcription, DNA-templated  positive regulation of transcription, DNA-templated  positive regulation of transcription from RNA polymerase II promoter  protein heterodimerization activity  embryonic skeletal system morphogenesis  palate development  
NDEx NetworkALX1
Atlas of Cancer Signalling NetworkALX1
Wikipedia pathwaysALX1
Orthology - Evolution
OrthoDB8092
GeneTree (enSembl)ENSG00000180318
Phylogenetic Trees/Animal Genes : TreeFamALX1
HOVERGENQ15699
HOGENOMQ15699
Homologs : HomoloGeneALX1
Homology/Alignments : Family Browser (UCSC)ALX1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerALX1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ALX1
dbVarALX1
ClinVarALX1
1000_GenomesALX1 
Exome Variant ServerALX1
ExAC (Exome Aggregation Consortium)ALX1 (select the gene name)
Genetic variants : HAPMAP8092
Genomic Variants (DGV)ALX1 [DGVbeta]
DECIPHER (Syndromes)12:85674036-85695561  ENSG00000180318
CONAN: Copy Number AnalysisALX1 
Mutations
ICGC Data PortalALX1 
TCGA Data PortalALX1 
Broad Tumor PortalALX1
OASIS PortalALX1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICALX1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDALX1
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)Mendelian genes
BioMutasearch ALX1
DgiDB (Drug Gene Interaction Database)ALX1
DoCM (Curated mutations)ALX1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ALX1 (select a term)
intoGenALX1
Cancer3DALX1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM601527    613456   
Orphanet21228   
MedgenALX1
Genetic Testing Registry ALX1
NextProtQ15699 [Medical]
TSGene8092
GENETestsALX1
Huge Navigator ALX1 [HugePedia]
snp3D : Map Gene to Disease8092
BioCentury BCIQALX1
ClinGenALX1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD8092
Chemical/Pharm GKB GenePA162376294
Clinical trialALX1
Miscellaneous
canSAR (ICR)ALX1 (select the gene name)
Probes
Litterature
PubMed18 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineALX1
EVEXALX1
GoPubMedALX1
iHOPALX1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:52:15 CEST 2017

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