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AHRR (aryl-hydrocarbon receptor repressor)

Identity

Alias (NCBI)AHH
AHHR
bHLHe77
HGNC (Hugo) AHRR
HGNC Alias symbKIAA1234
bHLHe77
HGNC Previous nameAHH
 AHHR
HGNC Previous namearyl hydrocarbon receptor regulator
LocusID (NCBI) 57491
Atlas_Id 46457
Location 5p15.33  [Link to chromosome band 5p15]
Location_base_pair Starts at 322610 and ends at 438282 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)
AHRR (5p15.33) / AHRR (5p15.33)AHRR (5p15.33) / NCOA2 (8q13.3)

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

 



Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  Soft Tissues: Angiofibroma
Soft tissue tumors: an overview
t(5;17)(p15;q21) ETV4/AHRR


External links

Nomenclature
HGNC (Hugo)AHRR   346
Cards
Entrez_Gene (NCBI)AHRR  57491  aryl-hydrocarbon receptor repressor
AliasesAHH; AHHR; bHLHe77
GeneCards (Weizmann)AHRR
Ensembl hg19 (Hinxton)ENSG00000063438 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000063438 [Gene_View]  ENSG00000063438 [Sequence]  chr5:322610-438282 [Contig_View]  AHRR [Vega]
ICGC DataPortalENSG00000063438
TCGA cBioPortalAHRR
AceView (NCBI)AHRR
Genatlas (Paris)AHRR
WikiGenes57491
SOURCE (Princeton)AHRR
Genetics Home Reference (NIH)AHRR
Genomic and cartography
GoldenPath hg38 (UCSC)AHRR  -     chr5:322610-438282 +  5p15.33   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)AHRR  -     5p15.33   [Description]    (hg19-Feb_2009)
GoldenPathAHRR - 5p15.33 [CytoView hg19]  AHRR - 5p15.33 [CytoView hg38]
ImmunoBaseENSG00000063438
genome Data Viewer NCBIAHRR [Mapview hg19]  
OMIM606517   
Gene and transcription
Genbank (Entrez)AK090508 AK127977 AK314472 BC035358 BM682431
RefSeq transcript (Entrez)NM_001242412 NM_001377236 NM_001377239 NM_020731
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)AHRR
Alternative Splicing GalleryENSG00000063438
Gene ExpressionAHRR [ NCBI-GEO ]   AHRR [ EBI - ARRAY_EXPRESS ]   AHRR [ SEEK ]   AHRR [ MEM ]
Gene Expression Viewer (FireBrowse)AHRR [ Firebrowse - Broad ]
GenevisibleExpression of AHRR in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57491
GTEX Portal (Tissue expression)AHRR
Human Protein AtlasENSG00000063438-AHRR [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtA9YTQ3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtA9YTQ3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProA9YTQ3
Splice isoforms : SwissVarA9YTQ3
PhosPhoSitePlusA9YTQ3
Domaine pattern : Prosite (Expaxy)BHLH (PS50888)    PAS (PS50112)   
Domains : Interpro (EBI)AHR/AHRR    AHRR    bHLH_dom    HLH_DNA-bd_sf    PAS    PAS-like_dom_sf    PAS_fold   
Domain families : Pfam (Sanger)HLH (PF00010)    PAS (PF00989)   
Domain families : Pfam (NCBI)pfam00010    pfam00989   
Domain families : Smart (EMBL)HLH (SM00353)  PAS (SM00091)  
Conserved Domain (NCBI)AHRR
DMDM Disease mutations57491
Blocks (Seattle)AHRR
PDB (RSDB)5Y7Y   
PDB Europe5Y7Y   
PDB (PDBSum)5Y7Y   
PDB (IMB)5Y7Y   
Structural Biology KnowledgeBase5Y7Y   
SCOP (Structural Classification of Proteins)5Y7Y   
CATH (Classification of proteins structures)5Y7Y   
SuperfamilyA9YTQ3
Human Protein Atlas [tissue]ENSG00000063438-AHRR [tissue]
Peptide AtlasA9YTQ3
HPRD07356
IPIIPI00893051   IPI00718806   IPI00893349   IPI00968054   IPI00967542   IPI00967227   IPI00984101   IPI00982017   IPI00978043   IPI00982577   
Protein Interaction databases
DIP (DOE-UCLA)A9YTQ3
IntAct (EBI)A9YTQ3
FunCoupENSG00000063438
BioGRIDAHRR
STRING (EMBL)AHRR
ZODIACAHRR
Ontologies - Pathways
QuickGOA9YTQ3
Ontology : AmiGOnegative regulation of transcription by RNA polymerase II  nuclear chromatin  DNA-binding transcription factor activity, RNA polymerase II-specific  nuclear receptor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  cytosol  xenobiotic metabolic process  intracellular receptor signaling pathway  positive regulation of transcription by RNA polymerase II  protein dimerization activity  sequence-specific double-stranded DNA binding  
Ontology : EGO-EBInegative regulation of transcription by RNA polymerase II  nuclear chromatin  DNA-binding transcription factor activity, RNA polymerase II-specific  nuclear receptor activity  protein binding  nucleus  nucleoplasm  nucleoplasm  cytosol  xenobiotic metabolic process  intracellular receptor signaling pathway  positive regulation of transcription by RNA polymerase II  protein dimerization activity  sequence-specific double-stranded DNA binding  
NDEx NetworkAHRR
Atlas of Cancer Signalling NetworkAHRR
Wikipedia pathwaysAHRR
Orthology - Evolution
OrthoDB57491
GeneTree (enSembl)ENSG00000063438
Phylogenetic Trees/Animal Genes : TreeFamAHRR
HOGENOMA9YTQ3
Homologs : HomoloGeneAHRR
Homology/Alignments : Family Browser (UCSC)AHRR
Gene fusions - Rearrangements
Fusion : MitelmanAHRR/NCOA2 [5p15.33/8q13.3]  
Fusion : QuiverAHRR
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerAHRR [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)AHRR
dbVarAHRR
ClinVarAHRR
MonarchAHRR
1000_GenomesAHRR 
Exome Variant ServerAHRR
GNOMAD BrowserENSG00000063438
Varsome BrowserAHRR
Genetic variants : HAPMAP57491
Genomic Variants (DGV)AHRR [DGVbeta]
DECIPHERAHRR [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisAHRR 
Mutations
ICGC Data PortalAHRR 
TCGA Data PortalAHRR 
Broad Tumor PortalAHRR
OASIS PortalAHRR [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICAHRR  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DAHRR
Mutations and Diseases : HGMDAHRR
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 AHRR
DgiDB (Drug Gene Interaction Database)AHRR
DoCM (Curated mutations)AHRR (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)AHRR (select a term)
intoGenAHRR
Cancer3DAHRR(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606517   
Orphanet
DisGeNETAHRR
MedgenAHRR
Genetic Testing Registry AHRR
NextProtA9YTQ3 [Medical]
TSGene57491
GENETestsAHRR
Target ValidationAHRR
Huge Navigator AHRR [HugePedia]
snp3D : Map Gene to Disease57491
BioCentury BCIQAHRR
ClinGenAHRR
Clinical trials, drugs, therapy
Protein Interactions : CTD57491
Pharm GKB GenePA24639
Clinical trialAHRR
Miscellaneous
canSAR (ICR)AHRR (select the gene name)
HarmonizomeAHRR
DataMed IndexAHRR
Probes
Litterature
PubMed76 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineAHRR
EVEXAHRR
GoPubMedAHRR
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 14 14:00:55 CEST 2020

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