Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ATG12 (autophagy related 12)

Identity

Alias_namesAPG12L
Apg12 (autophagy 12, S. cerevisiae)-like
APG12 autophagy 12-like (S. cerevisiae)
ATG12 autophagy related 12 homolog (S. cerevisiae)
Alias_symbol (synonym)APG12
Other aliasFBR93
HAPG12
HGNC (Hugo) ATG12
LocusID (NCBI) 9140
Atlas_Id 53501
Location 5q22.3  [Link to chromosome band 5q22]
Location_base_pair Starts at 115828197 and ends at 115841851 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)
ATG12 (5q22.3) / SLC17A5 (6q13)H2AFX (11q23.3) / ATG12 (5q22.3)LGALS3 (14q22.3) / ATG12 (5q22.3)

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)ATG12   588
Cards
Entrez_Gene (NCBI)ATG12  9140  autophagy related 12
AliasesAPG12; APG12L; FBR93; HAPG12
GeneCards (Weizmann)ATG12
Ensembl hg19 (Hinxton)ENSG00000145782 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000145782 [Gene_View]  ENSG00000145782 [Sequence]  chr5:115828197-115841851 [Contig_View]  ATG12 [Vega]
ICGC DataPortalENSG00000145782
TCGA cBioPortalATG12
AceView (NCBI)ATG12
Genatlas (Paris)ATG12
WikiGenes9140
SOURCE (Princeton)ATG12
Genetics Home Reference (NIH)ATG12
Genomic and cartography
GoldenPath hg38 (UCSC)ATG12  -     chr5:115828197-115841851 -  5q22.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ATG12  -     5q22.3   [Description]    (hg19-Feb_2009)
EnsemblATG12 - 5q22.3 [CytoView hg19]  ATG12 - 5q22.3 [CytoView hg38]
Mapping of homologs : NCBIATG12 [Mapview hg19]  ATG12 [Mapview hg38]
OMIM609608   
Gene and transcription
Genbank (Entrez)AB002440 AB002449 AB017507 AK098251 AK313320
RefSeq transcript (Entrez)NM_001277783 NM_004707
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ATG12
Cluster EST : UnigeneHs.264482 [ NCBI ]
CGAP (NCI)Hs.264482
Alternative Splicing GalleryENSG00000145782
Gene ExpressionATG12 [ NCBI-GEO ]   ATG12 [ EBI - ARRAY_EXPRESS ]   ATG12 [ SEEK ]   ATG12 [ MEM ]
Gene Expression Viewer (FireBrowse)ATG12 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)9140
GTEX Portal (Tissue expression)ATG12
Human Protein AtlasENSG00000145782-ATG12 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO94817   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO94817  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO94817
Splice isoforms : SwissVarO94817
PhosPhoSitePlusO94817
Domains : Interpro (EBI)Atg12    Ubiquitin-rel_dom   
Domain families : Pfam (Sanger)APG12 (PF04110)   
Domain families : Pfam (NCBI)pfam04110   
Conserved Domain (NCBI)ATG12
DMDM Disease mutations9140
Blocks (Seattle)ATG12
PDB (SRS)4GDK    4GDL    4NAW   
PDB (PDBSum)4GDK    4GDL    4NAW   
PDB (IMB)4GDK    4GDL    4NAW   
PDB (RSDB)4GDK    4GDL    4NAW   
Structural Biology KnowledgeBase4GDK    4GDL    4NAW   
SCOP (Structural Classification of Proteins)4GDK    4GDL    4NAW   
CATH (Classification of proteins structures)4GDK    4GDL    4NAW   
SuperfamilyO94817
Human Protein Atlas [tissue]ENSG00000145782-ATG12 [tissue]
Peptide AtlasO94817
HPRD08496
IPIIPI00449147   IPI00005881   IPI00964200   IPI00967545   IPI00967888   IPI00965406   
Protein Interaction databases
DIP (DOE-UCLA)O94817
IntAct (EBI)O94817
FunCoupENSG00000145782
BioGRIDATG12
STRING (EMBL)ATG12
ZODIACATG12
Ontologies - Pathways
QuickGOO94817
Ontology : AmiGOautophagosome assembly  autophagosome assembly  autophagy of mitochondrion  protein binding  autophagosome  cytosol  C-terminal protein lipidation  macroautophagy  Atg8 ligase activity  phagocytic vesicle membrane  phagophore assembly site membrane  phagophore assembly site membrane  Atg12-Atg5-Atg16 complex  autophagy of nucleus  
Ontology : EGO-EBIautophagosome assembly  autophagosome assembly  autophagy of mitochondrion  protein binding  autophagosome  cytosol  C-terminal protein lipidation  macroautophagy  Atg8 ligase activity  phagocytic vesicle membrane  phagophore assembly site membrane  phagophore assembly site membrane  Atg12-Atg5-Atg16 complex  autophagy of nucleus  
Pathways : KEGGRegulation of autophagy   
NDEx NetworkATG12
Atlas of Cancer Signalling NetworkATG12
Wikipedia pathwaysATG12
Orthology - Evolution
OrthoDB9140
GeneTree (enSembl)ENSG00000145782
Phylogenetic Trees/Animal Genes : TreeFamATG12
HOVERGENO94817
HOGENOMO94817
Homologs : HomoloGeneATG12
Homology/Alignments : Family Browser (UCSC)ATG12
Gene fusions - Rearrangements
Fusion : QuiverATG12
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerATG12 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ATG12
dbVarATG12
ClinVarATG12
1000_GenomesATG12 
Exome Variant ServerATG12
ExAC (Exome Aggregation Consortium)ENSG00000145782
GNOMAD BrowserENSG00000145782
Genetic variants : HAPMAP9140
Genomic Variants (DGV)ATG12 [DGVbeta]
DECIPHERATG12 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisATG12 
Mutations
ICGC Data PortalATG12 
TCGA Data PortalATG12 
Broad Tumor PortalATG12
OASIS PortalATG12 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICATG12  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDATG12
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch ATG12
DgiDB (Drug Gene Interaction Database)ATG12
DoCM (Curated mutations)ATG12 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ATG12 (select a term)
intoGenATG12
Cancer3DATG12(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609608   
Orphanet
DisGeNETATG12
MedgenATG12
Genetic Testing Registry ATG12
NextProtO94817 [Medical]
TSGene9140
GENETestsATG12
Target ValidationATG12
Huge Navigator ATG12 [HugePedia]
snp3D : Map Gene to Disease9140
BioCentury BCIQATG12
ClinGenATG12
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD9140
Chemical/Pharm GKB GenePA24879
Clinical trialATG12
Miscellaneous
canSAR (ICR)ATG12 (select the gene name)
Probes
Litterature
PubMed51 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineATG12
EVEXATG12
GoPubMedATG12
iHOPATG12
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 22 16:15:19 CEST 2018
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