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ANKS1B (ankyrin repeat and sterile alpha motif domain containing 1B)

Identity

Alias_symbol (synonym)EB-1
AIDA-1
cajalin-2
ANKS2
Other aliasAIDA
EB1
HGNC (Hugo) ANKS1B
LocusID (NCBI) 56899
Atlas_Id 40391
Location 12q23.1  [Link to chromosome band 12q23]
Location_base_pair Starts at 98743974 and ends at 98894896 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
ANKS1B (12q23.1) / ANO4 (12q23.1)ANKS1B (12q23.1) / ASAP1 (8q24.21)ANKS1B (12q23.1) / ASB3 (2p16.2)
ANKS1B (12q23.1) / CRY1 (12q23.3)ANKS1B (12q23.1) / LPIN1 (2p25.1)ANKS1B (12q23.1) / MED12 (Xq13.1)
ANKS1B (12q23.1) / NDUFA12 (12q22)ANKS1B (12q23.1) / TGFBI (5q31.1)CORO1C (12q24.11) / ANKS1B (12q23.1)
HCFC2 (12q23.3) / ANKS1B (12q23.1)IKBIP (12q23.1) / ANKS1B (12q23.1)PID1 (2q36.3) / ANKS1B (12q23.1)
POLE (12q24.33) / ANKS1B (12q23.1)SCYL2 (12q23.1) / ANKS1B (12q23.1)UHRF1BP1L (12q23.1) / ANKS1B (12q23.1)
UTP20 (12q23.2) / ANKS1B (12q23.1)WDR74 (11q12.3) / ANKS1B (12q23.1)ANKS1B 12q23.1 / NDUFA12 12q22
CORO1C 12q24.11 / ANKS1B 12q23.1HCFC2 12q23.3 / ANKS1B 12q23.1IKBIP 12q23.1 / ANKS1B 12q23.1
POLE 12q24.33 / ANKS1B 12q23.1SCYL2 12q23.1 / ANKS1B 12q23.1UHRF1BP1L 12q23.1 / ANKS1B 12q23.1
UTP20 12q23.2 / ANKS1B 12q23.1

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)ANKS1B   24600
Cards
Entrez_Gene (NCBI)ANKS1B  56899  ankyrin repeat and sterile alpha motif domain containing 1B
AliasesAIDA; AIDA-1; ANKS2; EB-1; 
EB1; cajalin-2
GeneCards (Weizmann)ANKS1B
Ensembl hg19 (Hinxton)ENSG00000185046 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000185046 [Gene_View]  chr12:98743974-98894896 [Contig_View]  ANKS1B [Vega]
ICGC DataPortalENSG00000185046
TCGA cBioPortalANKS1B
AceView (NCBI)ANKS1B
Genatlas (Paris)ANKS1B
WikiGenes56899
SOURCE (Princeton)ANKS1B
Genetics Home Reference (NIH)ANKS1B
Genomic and cartography
GoldenPath hg38 (UCSC)ANKS1B  -     chr12:98743974-98894896 -  12q23.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANKS1B  -     12q23.1   [Description]    (hg19-Feb_2009)
EnsemblANKS1B - 12q23.1 [CytoView hg19]  ANKS1B - 12q23.1 [CytoView hg38]
Mapping of homologs : NCBIANKS1B [Mapview hg19]  ANKS1B [Mapview hg38]
OMIM607815   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_001204065 NM_001204066 NM_001204067 NM_001204068 NM_001204069 NM_001204070 NM_001204079 NM_001204080 NM_001204081 NM_020140 NM_152788 NM_181670
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ANKS1B
Cluster EST : UnigeneHs.506458 [ NCBI ]
CGAP (NCI)Hs.506458
Alternative Splicing GalleryENSG00000185046
Gene ExpressionANKS1B [ NCBI-GEO ]   ANKS1B [ EBI - ARRAY_EXPRESS ]   ANKS1B [ SEEK ]   ANKS1B [ MEM ]
Gene Expression Viewer (FireBrowse)ANKS1B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56899
GTEX Portal (Tissue expression)ANKS1B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ7Z6G8   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ7Z6G8  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ7Z6G8
Splice isoforms : SwissVarQ7Z6G8
PhosPhoSitePlusQ7Z6G8
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)    PID (PS01179)    SAM_DOMAIN (PS50105)   
Domains : Interpro (EBI)ANKS1    ANKS1B    Ankyrin_rpt    Ankyrin_rpt-contain_dom    PH_dom-like    PTB/PI_dom    SAM    SAM/pointed   
Domain families : Pfam (Sanger)Ank_2 (PF12796)    PID (PF00640)    SAM_1 (PF00536)   
Domain families : Pfam (NCBI)pfam12796    pfam00640    pfam00536   
Domain families : Smart (EMBL)ANK (SM00248)  PTB (SM00462)  SAM (SM00454)  
Conserved Domain (NCBI)ANKS1B
DMDM Disease mutations56899
Blocks (Seattle)ANKS1B
PDB (SRS)2EAM    2KE7    2KIV    2M38   
PDB (PDBSum)2EAM    2KE7    2KIV    2M38   
PDB (IMB)2EAM    2KE7    2KIV    2M38   
PDB (RSDB)2EAM    2KE7    2KIV    2M38   
Structural Biology KnowledgeBase2EAM    2KE7    2KIV    2M38   
SCOP (Structural Classification of Proteins)2EAM    2KE7    2KIV    2M38   
CATH (Classification of proteins structures)2EAM    2KE7    2KIV    2M38   
SuperfamilyQ7Z6G8
Human Protein AtlasENSG00000185046
Peptide AtlasQ7Z6G8
HPRD07426
IPIIPI00477368   IPI00450411   IPI00385409   IPI00855765   IPI00889592   IPI00183620   IPI00432458   IPI01021677   IPI01025466   IPI01022388   IPI01021123   IPI00985108   IPI01026070   IPI01020828   IPI01021382   IPI01021526   IPI00797239   IPI00973379   IPI00903241   IPI00980571   IPI00375174   
Protein Interaction databases
DIP (DOE-UCLA)Q7Z6G8
IntAct (EBI)Q7Z6G8
FunCoupENSG00000185046
BioGRIDANKS1B
STRING (EMBL)ANKS1B
ZODIACANKS1B
Ontologies - Pathways
QuickGOQ7Z6G8
Ontology : AmiGOcytosol  plasma membrane  postsynaptic density  Cajal body  cell junction  dendritic spine  intracellular membrane-bounded organelle  postsynaptic membrane  ephrin receptor binding  regulation of synaptic plasticity by receptor localization to synapse  
Ontology : EGO-EBIcytosol  plasma membrane  postsynaptic density  Cajal body  cell junction  dendritic spine  intracellular membrane-bounded organelle  postsynaptic membrane  ephrin receptor binding  regulation of synaptic plasticity by receptor localization to synapse  
NDEx NetworkANKS1B
Atlas of Cancer Signalling NetworkANKS1B
Wikipedia pathwaysANKS1B
Orthology - Evolution
OrthoDB56899
GeneTree (enSembl)ENSG00000185046
Phylogenetic Trees/Animal Genes : TreeFamANKS1B
HOVERGENQ7Z6G8
HOGENOMQ7Z6G8
Homologs : HomoloGeneANKS1B
Homology/Alignments : Family Browser (UCSC)ANKS1B
Gene fusions - Rearrangements
Fusion : MitelmanANKS1B/NDUFA12 [12q23.1/12q22]  
Fusion : MitelmanCORO1C/ANKS1B [12q24.11/12q23.1]  [t(12;12)(q23;q24)]  
Fusion : MitelmanHCFC2/ANKS1B [12q23.3/12q23.1]  [t(12;12)(q23;q23)]  
Fusion : MitelmanIKBIP/ANKS1B [12q23.1/12q23.1]  [t(12;12)(q23;q23)]  
Fusion : MitelmanPOLE/ANKS1B [12q24.33/12q23.1]  [t(12;12)(q23;q24)]  
Fusion : MitelmanSCYL2/ANKS1B [12q23.1/12q23.1]  [t(12;12)(q23;q23)]  
Fusion : MitelmanUHRF1BP1L/ANKS1B [12q23.1/12q23.1]  [t(12;12)(q23;q23)]  
Fusion : MitelmanUTP20/ANKS1B [12q23.2/12q23.1]  [t(12;12)(q23;q23)]  
Fusion: TCGAANKS1B 12q23.1 NDUFA12 12q22 BRCA
Fusion: TCGACORO1C 12q24.11 ANKS1B 12q23.1 BRCA
Fusion: TCGAHCFC2 12q23.3 ANKS1B 12q23.1 LGG
Fusion: TCGAIKBIP 12q23.1 ANKS1B 12q23.1 BRCA
Fusion: TCGAPOLE 12q24.33 ANKS1B 12q23.1 BLCA
Fusion: TCGASCYL2 12q23.1 ANKS1B 12q23.1 SKCM
Fusion: TCGAUHRF1BP1L 12q23.1 ANKS1B 12q23.1 LUSC
Fusion: TCGAUTP20 12q23.2 ANKS1B 12q23.1 SKCM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANKS1B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANKS1B
dbVarANKS1B
ClinVarANKS1B
1000_GenomesANKS1B 
Exome Variant ServerANKS1B
ExAC (Exome Aggregation Consortium)ANKS1B (select the gene name)
Genetic variants : HAPMAP56899
Genomic Variants (DGV)ANKS1B [DGVbeta]
DECIPHERANKS1B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisANKS1B 
Mutations
ICGC Data PortalANKS1B 
TCGA Data PortalANKS1B 
Broad Tumor PortalANKS1B
OASIS PortalANKS1B [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANKS1B  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDANKS1B
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 ANKS1B
DgiDB (Drug Gene Interaction Database)ANKS1B
DoCM (Curated mutations)ANKS1B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANKS1B (select a term)
intoGenANKS1B
Cancer3DANKS1B(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607815   
Orphanet
MedgenANKS1B
Genetic Testing Registry ANKS1B
NextProtQ7Z6G8 [Medical]
TSGene56899
GENETestsANKS1B
Target ValidationANKS1B
Huge Navigator ANKS1B [HugePedia]
snp3D : Map Gene to Disease56899
BioCentury BCIQANKS1B
ClinGenANKS1B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56899
Chemical/Pharm GKB GenePA128394692
Clinical trialANKS1B
Miscellaneous
canSAR (ICR)ANKS1B (select the gene name)
Probes
Litterature
PubMed38 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANKS1B
EVEXANKS1B
GoPubMedANKS1B
iHOPANKS1B
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 18:57:19 CEST 2017

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