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ANKRD40 (ankyrin repeat domain 40)

Identity

Alias_symbol (synonym)MGC15396
Other alias-
HGNC (Hugo) ANKRD40
LocusID (NCBI) 91369
Atlas_Id 60350
Location 17q21.33  [Link to chromosome band 17q21]
Location_base_pair Starts at 50693190 and ends at 50707909 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)
ANKRD40 (17q21.33) / ELP2 (18q12.2)ANKRD40 (17q21.33) / LRRC6 (8q24.22)HDGF (1q23.1) / ANKRD40 (17q21.33)
LIMA1 (12q13.12) / ANKRD40 (17q21.33)

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)ANKRD40   28233
Cards
Entrez_Gene (NCBI)ANKRD40  91369  ankyrin repeat domain 40
Aliases
GeneCards (Weizmann)ANKRD40
Ensembl hg19 (Hinxton)ENSG00000154945 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000154945 [Gene_View]  chr17:50693190-50707909 [Contig_View]  ANKRD40 [Vega]
ICGC DataPortalENSG00000154945
TCGA cBioPortalANKRD40
AceView (NCBI)ANKRD40
Genatlas (Paris)ANKRD40
WikiGenes91369
SOURCE (Princeton)ANKRD40
Genetics Home Reference (NIH)ANKRD40
Genomic and cartography
GoldenPath hg38 (UCSC)ANKRD40  -     chr17:50693190-50707909 -  17q21.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANKRD40  -     17q21.33   [Description]    (hg19-Feb_2009)
EnsemblANKRD40 - 17q21.33 [CytoView hg19]  ANKRD40 - 17q21.33 [CytoView hg38]
Mapping of homologs : NCBIANKRD40 [Mapview hg19]  ANKRD40 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AK054795 AK314010 BC005853 BC012978 CR627413
RefSeq transcript (Entrez)NM_052855
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ANKRD40
Cluster EST : UnigeneHs.463426 [ NCBI ]
CGAP (NCI)Hs.463426
Alternative Splicing GalleryENSG00000154945
Gene ExpressionANKRD40 [ NCBI-GEO ]   ANKRD40 [ EBI - ARRAY_EXPRESS ]   ANKRD40 [ SEEK ]   ANKRD40 [ MEM ]
Gene Expression Viewer (FireBrowse)ANKRD40 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)91369
GTEX Portal (Tissue expression)ANKRD40
Human Protein AtlasENSG00000154945-ANKRD40 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6AI12   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6AI12  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6AI12
Splice isoforms : SwissVarQ6AI12
PhosPhoSitePlusQ6AI12
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)ANKRD40
DMDM Disease mutations91369
Blocks (Seattle)ANKRD40
SuperfamilyQ6AI12
Human Protein Atlas [tissue]ENSG00000154945-ANKRD40 [tissue]
Peptide AtlasQ6AI12
HPRD17502
IPIIPI00061168   
Protein Interaction databases
DIP (DOE-UCLA)Q6AI12
IntAct (EBI)Q6AI12
FunCoupENSG00000154945
BioGRIDANKRD40
STRING (EMBL)ANKRD40
ZODIACANKRD40
Ontologies - Pathways
QuickGOQ6AI12
Ontology : AmiGOmolecular_function  protein binding  cellular_component  biological_process  
Ontology : EGO-EBImolecular_function  protein binding  cellular_component  biological_process  
NDEx NetworkANKRD40
Atlas of Cancer Signalling NetworkANKRD40
Wikipedia pathwaysANKRD40
Orthology - Evolution
OrthoDB91369
GeneTree (enSembl)ENSG00000154945
Phylogenetic Trees/Animal Genes : TreeFamANKRD40
HOVERGENQ6AI12
HOGENOMQ6AI12
Homologs : HomoloGeneANKRD40
Homology/Alignments : Family Browser (UCSC)ANKRD40
Gene fusions - Rearrangements
Tumor Fusion PortalANKRD40
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANKRD40 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANKRD40
dbVarANKRD40
ClinVarANKRD40
1000_GenomesANKRD40 
Exome Variant ServerANKRD40
ExAC (Exome Aggregation Consortium)ENSG00000154945
GNOMAD BrowserENSG00000154945
Genetic variants : HAPMAP91369
Genomic Variants (DGV)ANKRD40 [DGVbeta]
DECIPHERANKRD40 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisANKRD40 
Mutations
ICGC Data PortalANKRD40 
TCGA Data PortalANKRD40 
Broad Tumor PortalANKRD40
OASIS PortalANKRD40 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANKRD40  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDANKRD40
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 ANKRD40
DgiDB (Drug Gene Interaction Database)ANKRD40
DoCM (Curated mutations)ANKRD40 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANKRD40 (select a term)
intoGenANKRD40
Cancer3DANKRD40(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
DisGeNETANKRD40
MedgenANKRD40
Genetic Testing Registry ANKRD40
NextProtQ6AI12 [Medical]
TSGene91369
GENETestsANKRD40
Target ValidationANKRD40
Huge Navigator ANKRD40 [HugePedia]
snp3D : Map Gene to Disease91369
BioCentury BCIQANKRD40
ClinGenANKRD40
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD91369
Chemical/Pharm GKB GenePA142672607
Clinical trialANKRD40
Miscellaneous
canSAR (ICR)ANKRD40 (select the gene name)
Probes
Litterature
PubMed14 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANKRD40
EVEXANKRD40
GoPubMedANKRD40
iHOPANKRD40
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 : Tue Nov 21 13:34:53 CET 2017

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