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ANKRD30A (ankyrin repeat domain 30A)

Identity

Alias_symbol (synonym)NY-BR-1
Other alias
HGNC (Hugo) ANKRD30A
LocusID (NCBI) 91074
Atlas_Id 41596
Location 10p11.21  [Link to chromosome band 10p11]
Location_base_pair Starts at 37125857 and ends at 37232567 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
TPPP3 (16q22.1) / ANKRD30A (10p11.21)

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

 


External links

Nomenclature
HGNC (Hugo)ANKRD30A   17234
Cards
Entrez_Gene (NCBI)ANKRD30A  91074  ankyrin repeat domain 30A
AliasesNY-BR-1
GeneCards (Weizmann)ANKRD30A
Ensembl hg19 (Hinxton)ENSG00000148513 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000148513 [Gene_View]  chr10:37125857-37232567 [Contig_View]  ANKRD30A [Vega]
ICGC DataPortalENSG00000148513
TCGA cBioPortalANKRD30A
AceView (NCBI)ANKRD30A
Genatlas (Paris)ANKRD30A
WikiGenes91074
SOURCE (Princeton)ANKRD30A
Genetics Home Reference (NIH)ANKRD30A
Genomic and cartography
GoldenPath hg38 (UCSC)ANKRD30A  -     chr10:37125857-37232567 +  10p11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)ANKRD30A  -     10p11.21   [Description]    (hg19-Feb_2009)
EnsemblANKRD30A - 10p11.21 [CytoView hg19]  ANKRD30A - 10p11.21 [CytoView hg38]
Mapping of homologs : NCBIANKRD30A [Mapview hg19]  ANKRD30A [Mapview hg38]
OMIM610856   
Gene and transcription
Genbank (Entrez)AF269087 BC172447 BP312910 DN831985
RefSeq transcript (Entrez)NM_052997
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)ANKRD30A
Cluster EST : UnigeneHs.373787 [ NCBI ]
CGAP (NCI)Hs.373787
Alternative Splicing GalleryENSG00000148513
Gene ExpressionANKRD30A [ NCBI-GEO ]   ANKRD30A [ EBI - ARRAY_EXPRESS ]   ANKRD30A [ SEEK ]   ANKRD30A [ MEM ]
Gene Expression Viewer (FireBrowse)ANKRD30A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)91074
GTEX Portal (Tissue expression)ANKRD30A
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BXX3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BXX3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BXX3
Splice isoforms : SwissVarQ9BXX3
PhosPhoSitePlusQ9BXX3
Domaine pattern : Prosite (Expaxy)ANK_REP_REGION (PS50297)    ANK_REPEAT (PS50088)   
Domains : Interpro (EBI)Ankyrin_rpt    Ankyrin_rpt-contain_dom   
Domain families : Pfam (Sanger)Ank (PF00023)    Ank_2 (PF12796)   
Domain families : Pfam (NCBI)pfam00023    pfam12796   
Domain families : Smart (EMBL)ANK (SM00248)  
Conserved Domain (NCBI)ANKRD30A
DMDM Disease mutations91074
Blocks (Seattle)ANKRD30A
SuperfamilyQ9BXX3
Human Protein AtlasENSG00000148513
Peptide AtlasQ9BXX3
HPRD10125
IPIIPI00043069   IPI00479761   
Protein Interaction databases
DIP (DOE-UCLA)Q9BXX3
IntAct (EBI)Q9BXX3
FunCoupENSG00000148513
BioGRIDANKRD30A
STRING (EMBL)ANKRD30A
ZODIACANKRD30A
Ontologies - Pathways
QuickGOQ9BXX3
Ontology : AmiGODNA binding  transcription factor activity, sequence-specific DNA binding  nucleus  regulation of transcription, DNA-templated  
Ontology : EGO-EBIDNA binding  transcription factor activity, sequence-specific DNA binding  nucleus  regulation of transcription, DNA-templated  
NDEx NetworkANKRD30A
Atlas of Cancer Signalling NetworkANKRD30A
Wikipedia pathwaysANKRD30A
Orthology - Evolution
OrthoDB91074
GeneTree (enSembl)ENSG00000148513
Phylogenetic Trees/Animal Genes : TreeFamANKRD30A
HOVERGENQ9BXX3
HOGENOMQ9BXX3
Homologs : HomoloGeneANKRD30A
Homology/Alignments : Family Browser (UCSC)ANKRD30A
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerANKRD30A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)ANKRD30A
dbVarANKRD30A
ClinVarANKRD30A
1000_GenomesANKRD30A 
Exome Variant ServerANKRD30A
ExAC (Exome Aggregation Consortium)ANKRD30A (select the gene name)
Genetic variants : HAPMAP91074
Genomic Variants (DGV)ANKRD30A [DGVbeta]
DECIPHERANKRD30A [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisANKRD30A 
Mutations
ICGC Data PortalANKRD30A 
TCGA Data PortalANKRD30A 
Broad Tumor PortalANKRD30A
OASIS PortalANKRD30A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICANKRD30A  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDANKRD30A
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 ANKRD30A
DgiDB (Drug Gene Interaction Database)ANKRD30A
DoCM (Curated mutations)ANKRD30A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)ANKRD30A (select a term)
intoGenANKRD30A
Cancer3DANKRD30A(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610856   
Orphanet
MedgenANKRD30A
Genetic Testing Registry ANKRD30A
NextProtQ9BXX3 [Medical]
TSGene91074
GENETestsANKRD30A
Huge Navigator ANKRD30A [HugePedia]
snp3D : Map Gene to Disease91074
BioCentury BCIQANKRD30A
ClinGenANKRD30A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD91074
Chemical/Pharm GKB GenePA134974407
Clinical trialANKRD30A
Miscellaneous
canSAR (ICR)ANKRD30A (select the gene name)
Probes
Litterature
PubMed20 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineANKRD30A
EVEXANKRD30A
GoPubMedANKRD30A
iHOPANKRD30A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri May 19 12:06:01 CEST 2017

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