Atlas of Genetics and Cytogenetics in Oncology and Haematology

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ANK1 (ankyrin 1)

Identity

Alias_namesANK
ankyrin 1
Alias_symbol (synonym)SPH1
Other aliasSPH2
HGNC (Hugo) ANK1
LocusID (NCBI) 286
Atlas_Id 641
Location 19p13.2  [Link to chromosome band 19p13]
Location_base_pair Starts at 41653225 and ends at 41665286 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)
ANK1 (8p11.21) / ADAM7 (8p21.2)ANK1 (8p11.21) / FGFR1 (8p11.23)ANK1 (8p11.21) / FUT10 (8p12)
ANK1 (8p11.21) / ZMAT4 (8p11.21)CNEP1R1 (16q12.1) / ANK1 (8p11.21)EFR3A (8q24.22) / ANK1 (8p11.21)
IKBKB (8p11.21) / ANK1 (8p11.21)NECAP1 (12p13.31) / ANK1 (8p11.21)PPFIA3 (19q13.33) / ANK1 (8p11.21)
WHSC1L1 (8p11.23) / ANK1 (8p11.21)ANK1 8p11.21 / ADAM7 8p21.2ANK1 8p11.21 / FUT10 8p12
IKBKB 8p11.21 / ANK1 8p11.21NECAP1 12p13.31 / ANK1 8p11.21PPFIA3 19q13.33 / ANK1 8p11.21
TMEM188 ANK1 8p11.21WHSC1L1 8p11.23 / ANK1 8p11.21

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 8 ]
  ANK1/FGFR1 (8p11)
ANK1/ZMAT4 (8p11)
IKBKB/ANK1 (8p11)
t(8;8)(p11;p12) ANK1/FUT10
t(8;8)(p11;p21) ANK1/ADAM7
t(8;12)(p11;p13) NECAP1/ANK1
t(8;16)(p11;q12) CNEP1R1/ANK1
t(8;19)(p11;q13) PPFIA3/ANK1

External links

Nomenclature
HGNC (Hugo)ANK1   492
Cards
Entrez_Gene (NCBI)ANK1  286  ankyrin 1
AliasesANK; SPH1; SPH2
GeneCards (Weizmann)ANK1
Ensembl hg19 (Hinxton)ENSG00000029534 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000029534 [Gene_View]  ENSG00000029534 [Sequence]  chr8:41653225-41665286 [Contig_View]  ANK1 [Vega]
ICGC DataPortalENSG00000029534
TCGA cBioPortalANK1
AceView (NCBI)ANK1
Genatlas (Paris)ANK1
WikiGenes286
SOURCE (Princeton)ANK1
Genetics Home Reference (NIH)ANK1
Genomic and cartography
GoldenPath hg38 (UCSC)ANK1  -     chr8:41653225-41665286 -  19p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANK1  -     19p13.2   [Description]    (hg19-Feb_2009)
EnsemblANK1 - 19p13.2 [CytoView hg19]  ANK1 - 19p13.2 [CytoView hg38]
Mapping of homologs : NCBIANK1 [Mapview hg19]  ANK1 [Mapview hg38]
OMIM182900   612641   
Gene and transcription
Genbank (Entrez)AA404587 AB209418 AI167814 AI684839 AK126647
RefSeq transcript (Entrez)NM_000037 NM_001142445 NM_001142446 NM_020475 NM_020476 NM_020477 NM_020478 NM_020479 NM_020480 NM_020481
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ANK1
Cluster EST : UnigeneHs.708861 [ NCBI ]
CGAP (NCI)Hs.708861
Alternative Splicing GalleryENSG00000029534
Gene ExpressionANK1 [ NCBI-GEO ]   ANK1 [ EBI - ARRAY_EXPRESS ]   ANK1 [ SEEK ]   ANK1 [ MEM ]
Gene Expression Viewer (FireBrowse)ANK1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)286
GTEX Portal (Tissue expression)ANK1
Human Protein AtlasENSG00000029534-ANK1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP16157   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP16157  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP16157
Splice isoforms : SwissVarP16157
PhosPhoSitePlusP16157
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    DEATH_DOMAIN (PS50017)    ZU5 (PS51145)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom    Ankyrin_rpt-contain_sf    DEATH-like_dom_sf    Death_domain    ZU5_dom   
Domain families : Pfam (Sanger)Ank (PF00023)    Ank_2 (PF12796)    Death (PF00531)    ZU5 (PF00791)   
Domain families : Pfam (NCBI)pfam00023    pfam12796    pfam00531    pfam00791   
Domain families : Smart (EMBL)ANK (SM00248)  DEATH (SM00005)  ZU5 (SM00218)  
Conserved Domain (NCBI)ANK1
DMDM Disease mutations286
Blocks (Seattle)ANK1
PDB (SRS)1N11    2YQF    2YVI    3F59    3KBT    3KBU    3UD1    3UD2   
PDB (PDBSum)1N11    2YQF    2YVI    3F59    3KBT    3KBU    3UD1    3UD2   
PDB (IMB)1N11    2YQF    2YVI    3F59    3KBT    3KBU    3UD1    3UD2   
PDB (RSDB)1N11    2YQF    2YVI    3F59    3KBT    3KBU    3UD1    3UD2   
Structural Biology KnowledgeBase1N11    2YQF    2YVI    3F59    3KBT    3KBU    3UD1    3UD2   
SCOP (Structural Classification of Proteins)1N11    2YQF    2YVI    3F59    3KBT    3KBU    3UD1    3UD2   
CATH (Classification of proteins structures)1N11    2YQF    2YVI    3F59    3KBT    3KBU    3UD1    3UD2   
SuperfamilyP16157
Human Protein Atlas [tissue]ENSG00000029534-ANK1 [tissue]
Peptide AtlasP16157
HPRD01693
IPI###############################################################################################################################################################################################################################################################   
Protein Interaction databases
DIP (DOE-UCLA)P16157
IntAct (EBI)P16157
FunCoupENSG00000029534
BioGRIDANK1
STRING (EMBL)ANK1
ZODIACANK1
Ontologies - Pathways
QuickGOP16157
Ontology : AmiGOstructural molecule activity  structural constituent of cytoskeleton  protein binding  nucleus  cytosol  cytoskeleton  plasma membrane  plasma membrane  exocytosis  ER to Golgi vesicle-mediated transport  ER to Golgi vesicle-mediated transport  cytoskeleton organization  signal transduction  cytoskeletal adaptor activity  cytoskeletal adaptor activity  positive regulation of organelle organization  intercalated disc  spectrin-associated cytoskeleton  membrane  basolateral plasma membrane  sarcoplasmic reticulum  enzyme binding  enzyme binding  Z disc  spectrin binding  spectrin binding  spectrin binding  axolemma  M band  node of Ranvier  paranode region of axon  sarcolemma  axon initial segment  ion channel binding  maintenance of epithelial cell apical/basal polarity  synapse  postsynaptic membrane  synapse organization  ATPase binding  protein localization to plasma membrane  protein localization to plasma membrane  protein localization to axon  
Ontology : EGO-EBIstructural molecule activity  structural constituent of cytoskeleton  protein binding  nucleus  cytosol  cytoskeleton  plasma membrane  plasma membrane  exocytosis  ER to Golgi vesicle-mediated transport  ER to Golgi vesicle-mediated transport  cytoskeleton organization  signal transduction  cytoskeletal adaptor activity  cytoskeletal adaptor activity  positive regulation of organelle organization  intercalated disc  spectrin-associated cytoskeleton  membrane  basolateral plasma membrane  sarcoplasmic reticulum  enzyme binding  enzyme binding  Z disc  spectrin binding  spectrin binding  spectrin binding  axolemma  M band  node of Ranvier  paranode region of axon  sarcolemma  axon initial segment  ion channel binding  maintenance of epithelial cell apical/basal polarity  synapse  postsynaptic membrane  synapse organization  ATPase binding  protein localization to plasma membrane  protein localization to plasma membrane  protein localization to axon  
Pathways : KEGGProteoglycans in cancer   
NDEx NetworkANK1
Atlas of Cancer Signalling NetworkANK1
Wikipedia pathwaysANK1
Orthology - Evolution
OrthoDB286
GeneTree (enSembl)ENSG00000029534
Phylogenetic Trees/Animal Genes : TreeFamANK1
HOVERGENP16157
HOGENOMP16157
Homologs : HomoloGeneANK1
Homology/Alignments : Family Browser (UCSC)ANK1
Gene fusions - Rearrangements
Fusion : MitelmanANK1/ADAM7 [8p11.21/8p21.2]  
Fusion : MitelmanANK1/FUT10 [8p11.21/8p12]  [t(8;8)(p11;p12)]  
Fusion : MitelmanANK1/ZMAT4 [8p11.21/8p11.21]  [t(8;8)(p11;p11)]  
Fusion : MitelmanCNEP1R1/ANK1 [16q12.1/8p11.21]  [t(8;16)(p11;q12)]  
Fusion : MitelmanIKBKB/ANK1 [8p11.21/8p11.21]  [t(8;8)(p11;p11)]  
Fusion : MitelmanNECAP1/ANK1 [12p13.31/8p11.21]  [t(8;12)(p11;p13)]  
Fusion : MitelmanPPFIA3/ANK1 [19q13.33/8p11.21]  [t(8;19)(p11;q13)]  
Fusion : MitelmanWHSC1L1/ANK1 [8p11.23/8p11.21]  [t(8;8)(p11;p12)]  
Fusion PortalANK1 8p11.21 ADAM7 8p21.2 BRCA
Fusion PortalANK1 8p11.21 FUT10 8p12 OV
Fusion PortalIKBKB 8p11.21 ANK1 8p11.21 BRCA
Fusion PortalNECAP1 12p13.31 ANK1 8p11.21 BLCA
Fusion PortalPPFIA3 19q13.33 ANK1 8p11.21 LUSC
Fusion PortalTMEM188 ANK1 8p11.21 BRCA
Fusion PortalWHSC1L1 8p11.23 ANK1 8p11.21 BRCA
Fusion : QuiverANK1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANK1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANK1
dbVarANK1
ClinVarANK1
1000_GenomesANK1 
Exome Variant ServerANK1
ExAC (Exome Aggregation Consortium)ENSG00000029534
GNOMAD BrowserENSG00000029534
Varsome BrowserANK1
Genetic variants : HAPMAP286
Genomic Variants (DGV)ANK1 [DGVbeta]
DECIPHERANK1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisANK1 
Mutations
ICGC Data PortalANK1 
TCGA Data PortalANK1 
Broad Tumor PortalANK1
OASIS PortalANK1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANK1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDANK1
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
BioMutasearch ANK1
DgiDB (Drug Gene Interaction Database)ANK1
DoCM (Curated mutations)ANK1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANK1 (select a term)
intoGenANK1
Cancer3DANK1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182900    612641   
Orphanet19613    3252   
DisGeNETANK1
MedgenANK1
Genetic Testing Registry ANK1
NextProtP16157 [Medical]
TSGene286
GENETestsANK1
Target ValidationANK1
Huge Navigator ANK1 [HugePedia]
snp3D : Map Gene to Disease286
BioCentury BCIQANK1
ClinGenANK1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD286
Chemical/Pharm GKB GenePA24798
Clinical trialANK1
Miscellaneous
canSAR (ICR)ANK1 (select the gene name)
Probes
Litterature
PubMed92 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANK1
EVEXANK1
GoPubMedANK1
iHOPANK1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Aug 16 10:46:41 CEST 2018
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