Atlas of Genetics and Cytogenetics in Oncology and Haematology


Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

JAZF1 (JAZF zinc finger 1)

Written2009-04Hui Li, Jeffrey Sklar
University of Virginia Medical School, Charlottesville, VA 22908, USA (HL), Department of Pathology, Yale University, New haven, CT, USA (JS)

(Note : for Links provided by Atlas : click)

Identity

Alias_symbol (synonym)TIP27
DKFZp761K2222
ZNF802
HGNC (Hugo) JAZF1
LocusID (NCBI) 221895
Atlas_Id 41036
Location 7p15.2  [Link to chromosome band 7p15]
Location_base_pair Starts at 27870193 and ends at 28220437 bp from pter ( according to hg19-Feb_2009)  [Mapping JAZF1.png]
 
  Metaphase FISH using as probe YAC908B12, which encompasses the entire JAZF1 at 7p15.2.
Fusion genes
(updated 2016)
CPVL (7p14.3) / JAZF1 (7p15.2)HBP1 (7q22.3) / JAZF1 (7p15.2)JAZF1 (7p15.2) / CDCA7L (7p15.3)
JAZF1 (7p15.2) / CPT1C (19q13.33)JAZF1 (7p15.2) / CTNNA1 (5q31.2)JAZF1 (7p15.2) / IL7 (8q21.12)
JAZF1 (7p15.2) / MCFD2 (2p21)JAZF1 (7p15.2) / PHF1 (6p21.32)JAZF1 (7p15.2) / SNX13 (7p21.1)
JAZF1 (7p15.2) / SRSF6 (20q13.11)JAZF1 (7p15.2) / SUZ12 (17q11.2)MSRB3 (12q14.3) / JAZF1 (7p15.2)
RAI1 (17p11.2) / JAZF1 (7p15.2)RNF216 (7p22.1) / JAZF1 (7p15.2)SUZ12 (17q11.2) / JAZF1 (7p15.2)
TAX1BP1 (7p15.2) / JAZF1 (7p15.2)

DNA/RNA

Description 5 exons; spans 350kb.
Transcription Major transcript: 2,980bp; coding sequence: 52-783.

Protein

Description 243 amino acids.
Expression Expressed in all the tissues tested with variable level. The tissues or organs that express JAZF1 include cerebellum, lung, thymus, liver, kidney, stomach/esophagus, skeleton muscle, skin and eye.
Localisation Mostly nucleus.
Function JAZF1 has three C2H2-type zinc fingers. It is mostly detected within the nucleus, with lesser amounts found in the cytoplasm. JAZF1 copurifies with chromatin, and presumably has DNA-binding properties. It has been reported to interact with TAK1 and function as a transcriptional repressor of the TAK1 gene.
SNPs in intron 1 of JAZF1 has been reported to be associated with type 2 diabetes and body height.
SNPs in intron 2 of JAZF1 have been reported to be associate with reduced prevalence of prostate cancer. Chimeric JAZF1-JJAZ1 protein (amino acid sequence of the first three exons of JAZF1 joined to sequence of the last 15 exons of JJAZ1) resulting from trans-splicing of precursor mRNAs and identical to a product generated from the JAZF1-JJAZ1 gene fusion in endometrial tumors has been found in normal endometrium.
Homology Unkown.

Mutations

Somatic JAZF1 has been identified at the breakpoints of a recurrent chromosomal translocation, the t(7;17)(p15;q21), in endometrial stromal tumors (benign nodules and sarcomas). The translocation leads to a JAZF1-JJAZ1 fusion gene. This gene fusion is detected in about 50% of endometrial stromal sarcomas and most endometrial stromal nodules.
Another common chromosomal translocation in endometrial stroma sarcomas, the t(6;7)(p21;p15), results in a JAZF1-PHF1 fusion. About 25-30% of endometrial stromal sarcomas are reported to contain this fusion. The sites of fusion within JAZF1 RNA to JJAZ1 and PHF1 RNA sequence are the same.
Both JJAZ1(also called SUZ12) and PHF1 belong to the Polycomb group (PcG) gene family.

Implicated in

Note
  
Entity t(7;17)(p15;q21) / endometrial stromal nodule and endometrial sarcoma
Disease Endometrial stroma nodule and sarcoma.
Cytogenetics t(7;17)(p15;q21)
Hybrid/Mutated Gene JAZF1-JJAZ1
Abnormal Protein JAZF1-JJAZ1
Oncogenesis The fusion protein protects cells from hypoxia-induced apoptosis, and also promotes proliferation when the wild-type allele of JJAZ1 is silenced (as it is in endometrial stromal sarcomas carrying the t(7;17)(p15;q21)).
  
  
Entity t(6;7)(p21;p15)/ endometrial stroma sarcoma
Disease Endometrial stroma sarcoma.
Cytogenetics t(6;7)(p21;p15)
Hybrid/Mutated Gene JAZF1-PHF1
Abnormal Protein JAZF1-PHF1
Oncogenesis The function of the JAZF1-PHF1 fusion is not currently known.
  
  
Entity Prostate carcinoma
Oncogenesis A SNIP in intron 2 of JAZF1 is associated with a somewhat decreased risk of prostate cancer, especially cancers that have been classified as being less aggressive. The mechanism by which polymorphisms alter the susceptibility toward prostate cancer is not currently known.
  

Breakpoints

 

Bibliography

A genetic link between type 2 diabetes and prostate cancer.
Frayling TM, Colhoun H, Florez JC.
Diabetologia. 2009 Feb;52(2):378-9.
PMID 18696045
 
Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis.
Johansson A, Marroni F, Hayward C, Franklin CS, Kirichenko AV, Jonasson I, Hicks AA, Vitart V, Isaacs A, Axenovich T, Campbell S, Dunlop MG, Floyd J, Hastie N, Hofman A, Knott S, Kolcic I, Pichler I, Polasek O, Rivadeneira F, Tenesa A, Uitterlinden AG, Wild SH, Zorkoltseva IV, Meitinger T, Wilson JF, Rudan I, Campbell H, Pattaro C, Pramstaller P, Oostra BA, Wright AF, van Duijn CM, Aulchenko YS, Gyllensten U; EUROSPAN Consortium.
Hum Mol Genet. 2009 Jan 15;18(2):373-80. Epub 2008 Oct 24.
PMID 18952825
 
Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors.
Koontz JI, Soreng AL, Nucci M, Kuo FC, Pauwels P, van Den Berghe H, Dal Cin P, Fletcher JA, Sklar J.
Proc Natl Acad Sci U S A. 2001 May 22;98(11):6348-53.
PMID 11371647
 
Effects of rearrangement and allelic exclusion of JJAZ1/SUZ12 on cell proliferation and survival.
Li H, Ma X, Wang J, Koontz J, Nucci M, Sklar J.
Proc Natl Acad Sci U S A. 2007 Dec 11;104(50):20001-6. Epub 2007 Dec 6.
PMID 18077430
 
A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells.
Li H, Wang J, Mor G, Sklar J.
Science. 2008 Sep 5;321(5894):1357-61.
PMID 18772439
 
Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma.
Micci F, Panagopoulos I, Bjerkehagen B, Heim S.
Cancer Res. 2006 Jan 1;66(1):107-12.
PMID 16397222
 
Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms.
Nucci MR, Harburger D, Koontz J, Dal Cin P, Sklar J.
Am J Surg Pathol. 2007 Jan;31(1):65-70.
PMID 17197920
 
Multiple loci identified in a genome-wide association study of prostate cancer.
Thomas G, Jacobs KB, Yeager M, Kraft P, Wacholder S, Orr N, Yu K, Chatterjee N, Welch R, Hutchinson A, Crenshaw A, Cancel-Tassin G, Staats BJ, Wang Z, Gonzalez-Bosquet J, Fang J, Deng X, Berndt SI, Calle EE, Feigelson HS, Thun MJ, Rodriguez C, Albanes D, Virtamo J, Weinstein S, Schumacher FR, Giovannucci E, Willett WC, Cussenot O, Valeri A, Andriole GL, Crawford ED, Tucker M, Gerhard DS, Fraumeni JF Jr, Hoover R, Hayes RB, Hunter DJ, Chanock SJ.
Nat Genet. 2008 Mar;40(3):310-5. Epub 2008 Feb 10.
PMID 18264096
 
Generalizability of associations from prostate cancer genome-wide association studies in multiple populations.
Waters KM, Le Marchand L, Kolonel LN, Monroe KR, Stram DO, Henderson BE, Haiman CA.
Cancer Epidemiol Biomarkers Prev. 2009 Apr;18(4):1285-9. Epub 2009 Mar 24.
PMID 19318432
 
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
Zeggini E, Scott LJ, Saxena R, Voight BF, Marchini JL, Hu T, de Bakker PI, Abecasis GR, Almgren P, Andersen G, Ardlie K, Bostrom KB, Bergman RN, Bonnycastle LL, Borch-Johnsen K, Burtt NP, Chen H, Chines PS, Daly MJ, Deodhar P, Ding CJ, Doney AS, Duren WL, Elliott KS, Erdos MR, Frayling TM, Freathy RM, Gianniny L, Grallert H, Grarup N, Groves CJ, Guiducci C, Hansen T, Herder C, Hitman GA, Hughes TE, Isomaa B, Jackson AU, Jorgensen T, Kong A, Kubalanza K, Kuruvilla FG, Kuusisto J, Langenberg C, Lango H, Lauritzen T, Li Y, Lindgren CM, Lyssenko V, Marvelle AF, Meisinger C, Midthjell K, Mohlke KL, Morken MA, Morris AD, Narisu N, Nilsson P, Owen KR, Palmer CN, Payne F, Perry JR, Pettersen E, Platou C, Prokopenko I, Qi L, Qin L, Rayner NW, Rees M, Roix JJ, Sandbaek A, Shields B, Sjogren M, Steinthorsdottir V, Stringham HM, Swift AJ, Thorleifsson G, Thorsteinsdottir U, Timpson NJ, Tuomi T, Tuomilehto J, Walker M, Watanabe RM, Weedon MN, Willer CJ; Wellcome Trust Case Control Consortium, Illig T, Hveem K, Hu FB, Laakso M, Stefansson K, Pedersen O, Wareham NJ, Barroso I, Hattersley AT, Collins FS, Groop L, McCarthy MI, Boehnke M, Altshuler D.
Nat Genet. 2008 May;40(5):638-45. Epub 2008 Mar 30.
PMID 18372903
 

Citation

This paper should be referenced as such :
Li, H ; Sklar, J
JAZF1 (JAZF zinc finger 1)
Atlas Genet Cytogenet Oncol Haematol. 2010;14(3):286-288.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Genes/JAZF1ID41036ch7p15.html


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 2 ]
  Prostate tumors: an overview
Uterus Tumours: an Overview


External links

Nomenclature
HGNC (Hugo)JAZF1   28917
Cards
AtlasJAZF1ID41036ch7p15
Entrez_Gene (NCBI)JAZF1  221895  JAZF zinc finger 1
AliasesTIP27; ZNF802
GeneCards (Weizmann)JAZF1
Ensembl hg19 (Hinxton)ENSG00000153814 [Gene_View]  chr7:27870193-28220437 [Contig_View]  JAZF1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000153814 [Gene_View]  chr7:27870193-28220437 [Contig_View]  JAZF1 [Vega]
ICGC DataPortalENSG00000153814
TCGA cBioPortalJAZF1
AceView (NCBI)JAZF1
Genatlas (Paris)JAZF1
WikiGenes221895
SOURCE (Princeton)JAZF1
Genetics Home Reference (NIH)JAZF1
Genomic and cartography
GoldenPath hg19 (UCSC)JAZF1  -     chr7:27870193-28220437 -  7p15.2-p15.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)JAZF1  -     7p15.2-p15.1   [Description]    (hg38-Dec_2013)
EnsemblJAZF1 - 7p15.2-p15.1 [CytoView hg19]  JAZF1 - 7p15.2-p15.1 [CytoView hg38]
Mapping of homologs : NCBIJAZF1 [Mapview hg19]  JAZF1 [Mapview hg38]
OMIM606246   
Gene and transcription
Genbank (Entrez)AK000711 AK091311 AL832491 AL834234 AY372319
RefSeq transcript (Entrez)NM_175061
RefSeq genomic (Entrez)NC_000007 NC_018918 NG_011499 NT_007819 NW_004929329
Consensus coding sequences : CCDS (NCBI)JAZF1
Cluster EST : UnigeneHs.368944 [ NCBI ]
CGAP (NCI)Hs.368944
Alternative Splicing GalleryENSG00000153814
Gene ExpressionJAZF1 [ NCBI-GEO ]   JAZF1 [ EBI - ARRAY_EXPRESS ]   JAZF1 [ SEEK ]   JAZF1 [ MEM ]
Gene Expression Viewer (FireBrowse)JAZF1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)221895
GTEX Portal (Tissue expression)JAZF1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ86VZ6   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ86VZ6  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ86VZ6
Splice isoforms : SwissVarQ86VZ6
PhosPhoSitePlusQ86VZ6
Domaine pattern : Prosite (Expaxy)ZINC_FINGER_C2H2_1 (PS00028)   
Domains : Interpro (EBI)Znf_C2H2    Znf_C2H2-like    Znf_C2H2/integrase_DNA-bd   
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Domain families : Smart (EMBL)ZnF_C2H2 (SM00355)  
Conserved Domain (NCBI)JAZF1
DMDM Disease mutations221895
Blocks (Seattle)JAZF1
SuperfamilyQ86VZ6
Human Protein AtlasENSG00000153814
Peptide AtlasQ86VZ6
HPRD09373
IPIIPI00329030   IPI00916217   IPI00916090   IPI00916436   IPI00916291   IPI00916745   IPI00745862   
Protein Interaction databases
DIP (DOE-UCLA)Q86VZ6
IntAct (EBI)Q86VZ6
FunCoupENSG00000153814
BioGRIDJAZF1
STRING (EMBL)JAZF1
ZODIACJAZF1
Ontologies - Pathways
QuickGOQ86VZ6
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  nucleic acid binding  transcription corepressor activity  nucleus  nucleolus  cytoplasm  transcription, DNA-templated  lipid metabolic process  transcriptional repressor complex  metal ion binding  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  nucleic acid binding  transcription corepressor activity  nucleus  nucleolus  cytoplasm  transcription, DNA-templated  lipid metabolic process  transcriptional repressor complex  metal ion binding  
NDEx NetworkJAZF1
Atlas of Cancer Signalling NetworkJAZF1
Wikipedia pathwaysJAZF1
Orthology - Evolution
OrthoDB221895
GeneTree (enSembl)ENSG00000153814
Phylogenetic Trees/Animal Genes : TreeFamJAZF1
HOVERGENQ86VZ6
HOGENOMQ86VZ6
Homologs : HomoloGeneJAZF1
Homology/Alignments : Family Browser (UCSC)JAZF1
Gene fusions - Rearrangements
Fusion : MitelmanJAZF1/CPT1C [7p15.2/19q13.33]  
Fusion : MitelmanJAZF1/PHF1 [7p15.2/6p21.32]  [t(6;7)(p21;p15)]  
Fusion : MitelmanJAZF1/SNX13 [7p15.2/7p21.1]  [t(7;7)(p15;p21)]  
Fusion : MitelmanJAZF1/SUZ12 [7p15.2/17q11.2]  [t(7;17)(p15;q11)]  
Fusion : MitelmanMSRB3/JAZF1 [12q14.3/7p15.2]  [t(7;12)(p15;q14)]  
Fusion : MitelmanRNF216/JAZF1 [7p22.1/7p15.2]  [t(7;7)(p15;p22)]  
Fusion : MitelmanTAX1BP1/JAZF1 [7p15.2/7p15.2]  [t(7;7)(p15;p15)]  
Fusion : COSMICJAZF1 [7p15.2]  -  PHF1 [6p21.32]  [fusion_1455]  [fusion_1458]  [fusion_1460]  [fusion_1463]  [fusion_2148]  [fusion_2149]  
Fusion : COSMICJAZF1 [7p15.2]  -  SUZ12 [17q11.2]  [fusion_568]  [fusion_569]  [fusion_570]  
Fusion: TCGAJAZF1 7p15.2 CPT1C 19q13.33 GBM
Fusion: TCGAJAZF1 7p15.2 SNX13 7p21.1 LGG
Fusion: TCGAMSRB3 12q14.3 JAZF1 7p15.2 LGG
Fusion: TCGARNF216 7p22.1 JAZF1 7p15.2 LUAD
Fusion: TCGATAX1BP1 7p15.2 JAZF1 7p15.2 OV
Fusion : TICdbJAZF1 [7p15.2]  -  PHF1 [6p21.32]
Fusion : TICdbJAZF1 [7p15.2]  -  SUZ12 [17q11.2]
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerJAZF1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)JAZF1
dbVarJAZF1
ClinVarJAZF1
1000_GenomesJAZF1 
Exome Variant ServerJAZF1
ExAC (Exome Aggregation Consortium)JAZF1 (select the gene name)
Genetic variants : HAPMAP221895
Genomic Variants (DGV)JAZF1 [DGVbeta]
DECIPHER (Syndromes)7:27870193-28220437  ENSG00000153814
CONAN: Copy Number AnalysisJAZF1 
Mutations
ICGC Data PortalJAZF1 
TCGA Data PortalJAZF1 
Broad Tumor PortalJAZF1
OASIS PortalJAZF1 [ Somatic mutations - Copy number]
Cancer Gene: CensusJAZF1 
Somatic Mutations in Cancer : COSMICJAZF1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDJAZF1
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 JAZF1
DgiDB (Drug Gene Interaction Database)JAZF1
DoCM (Curated mutations)JAZF1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)JAZF1 (select a term)
intoGenJAZF1
NCG5 (London)JAZF1
Cancer3DJAZF1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606246   
Orphanet18760   
MedgenJAZF1
Genetic Testing Registry JAZF1
NextProtQ86VZ6 [Medical]
TSGene221895
GENETestsJAZF1
Huge Navigator JAZF1 [HugePedia]
snp3D : Map Gene to Disease221895
BioCentury BCIQJAZF1
ClinGenJAZF1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD221895
Chemical/Pharm GKB GenePA162392484
Clinical trialJAZF1
Miscellaneous
canSAR (ICR)JAZF1 (select the gene name)
Probes
Litterature
PubMed87 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineJAZF1
EVEXJAZF1
GoPubMedJAZF1
iHOPJAZF1
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Thu Feb 2 14:03:44 CET 2017

Home   Genes   Leukemias   Solid Tumours   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us

jlhuret@AtlasGeneticsOncology.org.