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APLF (aprataxin and PNKP like factor)

Identity

Alias_namesC2orf13
chromosome 2 open reading frame 13
Alias_symbol (synonym)MGC47799
Xip1
ZCCHH1
Other aliasAPFL
PALF
HGNC (Hugo) APLF
LocusID (NCBI) 200558
Atlas_Id 50421
Location 2p13.3  [Link to chromosome band 2p13]
Location_base_pair Starts at 68467559 and ends at 68580162 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)
ANTXR1 (2p13.3) / APLF (2p13.3)PEBP4 (8p21.3) / APLF (2p13.3)PELI1 (2p14) / APLF (2p13.3)
ANTXR1 2p13.3 / APLF 2p13.3PELI1 2p14 / APLF 2p13.3

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)APLF   28724
Cards
Entrez_Gene (NCBI)APLF  200558  aprataxin and PNKP like factor
AliasesAPFL; C2orf13; PALF; Xip1; 
ZCCHH1
GeneCards (Weizmann)APLF
Ensembl hg19 (Hinxton)ENSG00000169621 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000169621 [Gene_View]  chr2:68467559-68580162 [Contig_View]  APLF [Vega]
ICGC DataPortalENSG00000169621
TCGA cBioPortalAPLF
AceView (NCBI)APLF
Genatlas (Paris)APLF
WikiGenes200558
SOURCE (Princeton)APLF
Genetics Home Reference (NIH)APLF
Genomic and cartography
GoldenPath hg38 (UCSC)APLF  -     chr2:68467559-68580162 +  2p13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)APLF  -     2p13.3   [Description]    (hg19-Feb_2009)
EnsemblAPLF - 2p13.3 [CytoView hg19]  APLF - 2p13.3 [CytoView hg38]
Mapping of homologs : NCBIAPLF [Mapview hg19]  APLF [Mapview hg38]
OMIM611035   
Gene and transcription
Genbank (Entrez)AK290841 AK308186 BC030711 BC041144 DA641644
RefSeq transcript (Entrez)NM_173545
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)APLF
Cluster EST : UnigeneHs.720369 [ NCBI ]
CGAP (NCI)Hs.720369
Alternative Splicing GalleryENSG00000169621
Gene ExpressionAPLF [ NCBI-GEO ]   APLF [ EBI - ARRAY_EXPRESS ]   APLF [ SEEK ]   APLF [ MEM ]
Gene Expression Viewer (FireBrowse)APLF [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)200558
GTEX Portal (Tissue expression)APLF
Human Protein AtlasENSG00000169621-APLF [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8IW19   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8IW19  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8IW19
Splice isoforms : SwissVarQ8IW19
Catalytic activity : Enzyme4.2.99.18 [ Enzyme-Expasy ]   4.2.99.184.2.99.18 [ IntEnz-EBI ]   4.2.99.18 [ BRENDA ]   4.2.99.18 [ KEGG ]   
PhosPhoSitePlusQ8IW19
Domains : Interpro (EBI)FHA_dom    SMAD_FHA_domain    Znf_C2H2_APLF-like   
Domain families : Pfam (Sanger)zf-CCHH (PF10283)   
Domain families : Pfam (NCBI)pfam10283   
Conserved Domain (NCBI)APLF
DMDM Disease mutations200558
Blocks (Seattle)APLF
PDB (SRS)2KQB    2KQC    2KQD    2KQE    2KUO    5E50   
PDB (PDBSum)2KQB    2KQC    2KQD    2KQE    2KUO    5E50   
PDB (IMB)2KQB    2KQC    2KQD    2KQE    2KUO    5E50   
PDB (RSDB)2KQB    2KQC    2KQD    2KQE    2KUO    5E50   
Structural Biology KnowledgeBase2KQB    2KQC    2KQD    2KQE    2KUO    5E50   
SCOP (Structural Classification of Proteins)2KQB    2KQC    2KQD    2KQE    2KUO    5E50   
CATH (Classification of proteins structures)2KQB    2KQC    2KQD    2KQE    2KUO    5E50   
SuperfamilyQ8IW19
Human Protein Atlas [tissue]ENSG00000169621-APLF [tissue]
Peptide AtlasQ8IW19
HPRD09848
IPIIPI00217108   IPI00915880   IPI00981166   
Protein Interaction databases
DIP (DOE-UCLA)Q8IW19
IntAct (EBI)Q8IW19
FunCoupENSG00000169621
BioGRIDAPLF
STRING (EMBL)APLF
ZODIACAPLF
Ontologies - Pathways
QuickGOQ8IW19
Ontology : AmiGOsingle strand break repair  nucleotide binding  DNA-(apurinic or apyrimidinic site) lyase activity  endodeoxyribonuclease activity  protein binding  nucleus  nucleoplasm  cytosol  double-strand break repair  cellular response to DNA damage stimulus  3'-5' exonuclease activity  site of double-strand break  regulation of isotype switching  metal ion binding  positive regulation of DNA ligation  nucleic acid phosphodiester bond hydrolysis  
Ontology : EGO-EBIsingle strand break repair  nucleotide binding  DNA-(apurinic or apyrimidinic site) lyase activity  endodeoxyribonuclease activity  protein binding  nucleus  nucleoplasm  cytosol  double-strand break repair  cellular response to DNA damage stimulus  3'-5' exonuclease activity  site of double-strand break  regulation of isotype switching  metal ion binding  positive regulation of DNA ligation  nucleic acid phosphodiester bond hydrolysis  
NDEx NetworkAPLF
Atlas of Cancer Signalling NetworkAPLF
Wikipedia pathwaysAPLF
Orthology - Evolution
OrthoDB200558
GeneTree (enSembl)ENSG00000169621
Phylogenetic Trees/Animal Genes : TreeFamAPLF
HOVERGENQ8IW19
HOGENOMQ8IW19
Homologs : HomoloGeneAPLF
Homology/Alignments : Family Browser (UCSC)APLF
Gene fusions - Rearrangements
Fusion : MitelmanANTXR1/APLF [2p13.3/2p13.3]  [t(2;2)(p13;p13)]  
Fusion : MitelmanPELI1/APLF [2p14/2p13.3]  [t(2;2)(p13;p14)]  
Fusion: TCGA_MDACCANTXR1 2p13.3 APLF 2p13.3 OV
Fusion: TCGA_MDACCPELI1 2p14 APLF 2p13.3 BRCA
Tumor Fusion PortalAPLF
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAPLF [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)APLF
dbVarAPLF
ClinVarAPLF
1000_GenomesAPLF 
Exome Variant ServerAPLF
ExAC (Exome Aggregation Consortium)ENSG00000169621
GNOMAD BrowserENSG00000169621
Genetic variants : HAPMAP200558
Genomic Variants (DGV)APLF [DGVbeta]
DECIPHERAPLF [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAPLF 
Mutations
ICGC Data PortalAPLF 
TCGA Data PortalAPLF 
Broad Tumor PortalAPLF
OASIS PortalAPLF [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAPLF  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDAPLF
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch APLF
DgiDB (Drug Gene Interaction Database)APLF
DoCM (Curated mutations)APLF (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)APLF (select a term)
intoGenAPLF
Cancer3DAPLF(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM611035   
Orphanet
DisGeNETAPLF
MedgenAPLF
Genetic Testing Registry APLF
NextProtQ8IW19 [Medical]
TSGene200558
GENETestsAPLF
Target ValidationAPLF
Huge Navigator APLF [HugePedia]
snp3D : Map Gene to Disease200558
BioCentury BCIQAPLF
ClinGenAPLF
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD200558
Chemical/Pharm GKB GenePA164715842
Clinical trialAPLF
Miscellaneous
canSAR (ICR)APLF (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAPLF
EVEXAPLF
GoPubMedAPLF
iHOPAPLF
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 14:03:17 CET 2017

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