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DHH (desert hedgehog)

Identity

Alias_namesdesert hedgehog (Drosophila) homolog
Alias_symbol (synonym)HHG-3
MGC35145
Other aliasGDXYM
SRXY7
HGNC (Hugo) DHH
LocusID (NCBI) 50846
Atlas_Id 50493
Location 12q13.12  [Link to chromosome band 12q13]
Location_base_pair Starts at 49086656 and ends at 49094819 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)
DHH (12q13.12) / RHEBL1 (12q13.12)DHH 12q13.12 / RHEBL1 12q13.12

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 Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  del(12)(q13q13) DHH/RHEBL1

External links

Nomenclature
HGNC (Hugo)DHH   2865
Cards
Entrez_Gene (NCBI)DHH  50846  desert hedgehog
AliasesGDXYM; HHG-3; SRXY7
GeneCards (Weizmann)DHH
Ensembl hg19 (Hinxton)ENSG00000139549 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000139549 [Gene_View]  ENSG00000139549 [Sequence]  chr12:49086656-49094819 [Contig_View]  DHH [Vega]
ICGC DataPortalENSG00000139549
TCGA cBioPortalDHH
AceView (NCBI)DHH
Genatlas (Paris)DHH
WikiGenes50846
SOURCE (Princeton)DHH
Genetics Home Reference (NIH)DHH
Genomic and cartography
GoldenPath hg38 (UCSC)DHH  -     chr12:49086656-49094819 -  12q13.12   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)DHH  -     12q13.12   [Description]    (hg19-Feb_2009)
EnsemblDHH - 12q13.12 [CytoView hg19]  DHH - 12q13.12 [CytoView hg38]
Mapping of homologs : NCBIDHH [Mapview hg19]  DHH [Mapview hg38]
OMIM233420   605423   607080   
Gene and transcription
Genbank (Entrez)AK313360 AW182088 BC033507 HQ607677 HQ607678
RefSeq transcript (Entrez)NM_021044
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)DHH
Cluster EST : UnigeneHs.533776 [ NCBI ]
CGAP (NCI)Hs.533776
Alternative Splicing GalleryENSG00000139549
Gene ExpressionDHH [ NCBI-GEO ]   DHH [ EBI - ARRAY_EXPRESS ]   DHH [ SEEK ]   DHH [ MEM ]
Gene Expression Viewer (FireBrowse)DHH [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)50846
GTEX Portal (Tissue expression)DHH
Human Protein AtlasENSG00000139549-DHH [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO43323   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO43323  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO43323
Splice isoforms : SwissVarO43323
PhosPhoSitePlusO43323
Domains : Interpro (EBI)Hedgehog    Hedgehog/Intein_dom    Hedgehog_sig/DD-Pept_Zn-bd_dom    Hedgehog_signalling_dom    Hint_dom    Hint_dom_C    Hint_dom_N   
Domain families : Pfam (Sanger)HH_signal (PF01085)    Hint (PF01079)   
Domain families : Pfam (NCBI)pfam01085    pfam01079   
Domain families : Smart (EMBL)HintC (SM00305)  HintN (SM00306)  
Conserved Domain (NCBI)DHH
DMDM Disease mutations50846
Blocks (Seattle)DHH
PDB (SRS)2WFQ    2WFR    2WG3    3N1G    3N1Q   
PDB (PDBSum)2WFQ    2WFR    2WG3    3N1G    3N1Q   
PDB (IMB)2WFQ    2WFR    2WG3    3N1G    3N1Q   
PDB (RSDB)2WFQ    2WFR    2WG3    3N1G    3N1Q   
Structural Biology KnowledgeBase2WFQ    2WFR    2WG3    3N1G    3N1Q   
SCOP (Structural Classification of Proteins)2WFQ    2WFR    2WG3    3N1G    3N1Q   
CATH (Classification of proteins structures)2WFQ    2WFR    2WG3    3N1G    3N1Q   
SuperfamilyO43323
Human Protein Atlas [tissue]ENSG00000139549-DHH [tissue]
Peptide AtlasO43323
HPRD05664
IPIIPI00011978   
Protein Interaction databases
DIP (DOE-UCLA)O43323
IntAct (EBI)O43323
FunCoupENSG00000139549
BioGRIDDHH
STRING (EMBL)DHH
ZODIACDHH
Ontologies - Pathways
QuickGOO43323
Ontology : AmiGOosteoblast differentiation  patched binding  calcium ion binding  protein binding  extracellular space  plasma membrane  proteolysis  smoothened signaling pathway  cell-cell signaling  spermatid development  peptidase activity  zinc ion binding  male sex determination  response to estradiol  Leydig cell differentiation  myelination  response to estrogen  regulation of steroid biosynthetic process  
Ontology : EGO-EBIosteoblast differentiation  patched binding  calcium ion binding  protein binding  extracellular space  plasma membrane  proteolysis  smoothened signaling pathway  cell-cell signaling  spermatid development  peptidase activity  zinc ion binding  male sex determination  response to estradiol  Leydig cell differentiation  myelination  response to estrogen  regulation of steroid biosynthetic process  
Pathways : KEGGHedgehog signaling pathway   
NDEx NetworkDHH
Atlas of Cancer Signalling NetworkDHH
Wikipedia pathwaysDHH
Orthology - Evolution
OrthoDB50846
GeneTree (enSembl)ENSG00000139549
Phylogenetic Trees/Animal Genes : TreeFamDHH
HOVERGENO43323
HOGENOMO43323
Homologs : HomoloGeneDHH
Homology/Alignments : Family Browser (UCSC)DHH
Gene fusions - Rearrangements
Fusion : MitelmanDHH/RHEBL1 [12q13.12/12q13.12]  
Fusion : QuiverDHH
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerDHH [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)DHH
dbVarDHH
ClinVarDHH
1000_GenomesDHH 
Exome Variant ServerDHH
ExAC (Exome Aggregation Consortium)ENSG00000139549
GNOMAD BrowserENSG00000139549
Genetic variants : HAPMAP50846
Genomic Variants (DGV)DHH [DGVbeta]
DECIPHERDHH [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisDHH 
Mutations
ICGC Data PortalDHH 
TCGA Data PortalDHH 
Broad Tumor PortalDHH
OASIS PortalDHH [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICDHH  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDDHH
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
LOVD (Leiden Open Variation Database)Mendelian genes
BioMutasearch DHH
DgiDB (Drug Gene Interaction Database)DHH
DoCM (Curated mutations)DHH (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)DHH (select a term)
intoGenDHH
Cancer3DDHH(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM233420    605423    607080   
Orphanet17772    1044   
DisGeNETDHH
MedgenDHH
Genetic Testing Registry DHH
NextProtO43323 [Medical]
TSGene50846
GENETestsDHH
Target ValidationDHH
Huge Navigator DHH [HugePedia]
snp3D : Map Gene to Disease50846
BioCentury BCIQDHH
ClinGenDHH
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD50846
Chemical/Pharm GKB GenePA27326
Clinical trialDHH
Miscellaneous
canSAR (ICR)DHH (select the gene name)
Probes
Litterature
PubMed27 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineDHH
EVEXDHH
GoPubMedDHH
iHOPDHH
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Fri Jun 22 16:22:31 CEST 2018
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