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JADE1 (jade family PHD finger 1)

Identity

Alias_namesPHF17
PHD finger protein 17
Alias_symbol (synonym)JADE-1
Other alias
HGNC (Hugo) JADE1
LocusID (NCBI) 79960
Atlas_Id 43934
Location 4q28.2  [Link to chromosome band 4q28]
Location_base_pair Starts at 128809623 and ends at 128875224 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)
B2M (15q21.1) / JADE1 (4q28.2)COG4 (16q22.1) / JADE1 (4q28.2)HPS3 (3q24) / JADE1 (4q28.2)
JADE1 (4q28.2) / JADE1 (4q28.2)JADE1 (4q28.2) / RAB12 (18p11.22)JADE1 (4q28.2) / SNHG8 (4q26)
TMEM117 (12q12) / JADE1 (4q28.2)

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) [ 1 ]
  t(3;4)(q24;q28) HPS3/JADE1

External links

Nomenclature
HGNC (Hugo)JADE1   30027
Cards
Entrez_Gene (NCBI)JADE1  79960  jade family PHD finger 1
AliasesPHF17
GeneCards (Weizmann)JADE1
Ensembl hg19 (Hinxton)ENSG00000077684 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000077684 [Gene_View]  ENSG00000077684 [Sequence]  chr4:128809623-128875224 [Contig_View]  JADE1 [Vega]
ICGC DataPortalENSG00000077684
TCGA cBioPortalJADE1
AceView (NCBI)JADE1
Genatlas (Paris)JADE1
WikiGenes79960
SOURCE (Princeton)JADE1
Genetics Home Reference (NIH)JADE1
Genomic and cartography
GoldenPath hg38 (UCSC)JADE1  -     chr4:128809623-128875224 +  4q28.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)JADE1  -     4q28.2   [Description]    (hg19-Feb_2009)
EnsemblJADE1 - 4q28.2 [CytoView hg19]  JADE1 - 4q28.2 [CytoView hg38]
Mapping of homologs : NCBIJADE1 [Mapview hg19]  JADE1 [Mapview hg38]
OMIM610514   
Gene and transcription
Genbank (Entrez)AB058710 AF520952 AK026132 AK027620 AK074986
RefSeq transcript (Entrez)NM_001287437 NM_001287439 NM_001287440 NM_001287441 NM_001287442 NM_001287443 NM_024900 NM_199320
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)JADE1
Cluster EST : UnigeneHs.12420 [ NCBI ]
CGAP (NCI)Hs.12420
Alternative Splicing GalleryENSG00000077684
Gene ExpressionJADE1 [ NCBI-GEO ]   JADE1 [ EBI - ARRAY_EXPRESS ]   JADE1 [ SEEK ]   JADE1 [ MEM ]
Gene Expression Viewer (FireBrowse)JADE1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79960
GTEX Portal (Tissue expression)JADE1
Human Protein AtlasENSG00000077684-JADE1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6IE81   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6IE81  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6IE81
Splice isoforms : SwissVarQ6IE81
PhosPhoSitePlusQ6IE81
Domaine pattern : Prosite (Expaxy)EPHD (PS51805)    ZF_PHD_1 (PS01359)    ZF_PHD_2 (PS50016)   
Domains : Interpro (EBI)Enhancer_polycomb-like_N    EPHD    Zinc_finger_PHD-type_CS    Znf_FYVE_PHD    Znf_PHD    Znf_PHD-finger    Znf_RING/FYVE/PHD   
Domain families : Pfam (Sanger)EPL1 (PF10513)   
Domain families : Pfam (NCBI)pfam10513   
Domain families : Smart (EMBL)PHD (SM00249)  
Conserved Domain (NCBI)JADE1
DMDM Disease mutations79960
Blocks (Seattle)JADE1
SuperfamilyQ6IE81
Human Protein Atlas [tissue]ENSG00000077684-JADE1 [tissue]
Peptide AtlasQ6IE81
HPRD10151
IPIIPI00399252   IPI00789745   IPI00395424   IPI01013364   IPI00968204   IPI00966382   IPI00967203   IPI00964224   IPI00966902   IPI00967692   IPI00966338   
Protein Interaction databases
DIP (DOE-UCLA)Q6IE81
IntAct (EBI)Q6IE81
FunCoupENSG00000077684
BioGRIDJADE1
STRING (EMBL)JADE1
ZODIACJADE1
Ontologies - Pathways
QuickGOQ6IE81
Ontology : AmiGOhistone acetyltransferase complex  transcription coactivator activity  protein binding  nucleus  nucleoplasm  cytoplasm  plasma membrane  apoptotic process  nuclear speck  negative regulation of cell growth  ciliary basal body  histone H3 acetylation  histone H4-K5 acetylation  histone H4-K8 acetylation  histone H4-K12 acetylation  histone H4-K16 acetylation  metal ion binding  negative regulation of canonical Wnt signaling pathway  positive regulation of nucleic acid-templated transcription  negative regulation of G1/S transition of mitotic cell cycle  
Ontology : EGO-EBIhistone acetyltransferase complex  transcription coactivator activity  protein binding  nucleus  nucleoplasm  cytoplasm  plasma membrane  apoptotic process  nuclear speck  negative regulation of cell growth  ciliary basal body  histone H3 acetylation  histone H4-K5 acetylation  histone H4-K8 acetylation  histone H4-K12 acetylation  histone H4-K16 acetylation  metal ion binding  negative regulation of canonical Wnt signaling pathway  positive regulation of nucleic acid-templated transcription  negative regulation of G1/S transition of mitotic cell cycle  
NDEx NetworkJADE1
Atlas of Cancer Signalling NetworkJADE1
Wikipedia pathwaysJADE1
Orthology - Evolution
OrthoDB79960
GeneTree (enSembl)ENSG00000077684
Phylogenetic Trees/Animal Genes : TreeFamJADE1
HOGENOMQ6IE81
Homologs : HomoloGeneJADE1
Homology/Alignments : Family Browser (UCSC)JADE1
Gene fusions - Rearrangements
Fusion : MitelmanHPS3/JADE1 [3q24/4q28.2]  [t(3;4)(q24;q28)]  
Fusion : QuiverJADE1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerJADE1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)JADE1
dbVarJADE1
ClinVarJADE1
1000_GenomesJADE1 
Exome Variant ServerJADE1
ExAC (Exome Aggregation Consortium)ENSG00000077684
GNOMAD BrowserENSG00000077684
Varsome BrowserJADE1
Genetic variants : HAPMAP79960
Genomic Variants (DGV)JADE1 [DGVbeta]
DECIPHERJADE1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisJADE1 
Mutations
ICGC Data PortalJADE1 
TCGA Data PortalJADE1 
Broad Tumor PortalJADE1
OASIS PortalJADE1 [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDJADE1
BioMutasearch JADE1
DgiDB (Drug Gene Interaction Database)JADE1
DoCM (Curated mutations)JADE1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)JADE1 (select a term)
intoGenJADE1
Cancer3DJADE1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM610514   
Orphanet
DisGeNETJADE1
MedgenJADE1
Genetic Testing Registry JADE1
NextProtQ6IE81 [Medical]
TSGene79960
GENETestsJADE1
Target ValidationJADE1
Huge Navigator JADE1 [HugePedia]
snp3D : Map Gene to Disease79960
BioCentury BCIQJADE1
ClinGenJADE1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79960
Chemical/Pharm GKB GenePA134925124
Clinical trialJADE1
Miscellaneous
canSAR (ICR)JADE1 (select the gene name)
DataMed IndexJADE1
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineJADE1
EVEXJADE1
GoPubMedJADE1
iHOPJADE1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Feb 14 16:36:53 CET 2019
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