Property Summary

NCBI Gene PubMed Count 85
PubMed Score 39.61
PubTator Score 43.32

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
Cancer 2346 0.0 4.0

Expression

  Differential Expression (22)

Disease log2 FC p
medulloblastoma -2.400 3.7e-05
cystic fibrosis -1.254 1.8e-04
atypical teratoid / rhabdoid tumor -2.700 2.7e-08
glioblastoma -1.300 1.2e-03
medulloblastoma, large-cell -2.400 1.1e-04
primitive neuroectodermal tumor -1.100 1.5e-02
autosomal dominant Emery-Dreifuss muscul... 1.217 4.5e-04
juvenile dermatomyositis 1.053 3.0e-10
Atopic dermatitis -1.200 1.3e-03
adrenocortical adenoma -1.019 3.0e-02
adrenocortical carcinoma -1.766 8.9e-04
tuberculosis 1.300 2.0e-07
non-small cell lung cancer -1.055 6.1e-10
intraductal papillary-mucinous carcinoma... -1.500 1.9e-02
ulcerative colitis 1.600 8.6e-05
primary Sjogren syndrome 1.200 8.5e-03
aldosterone-producing adenoma -1.508 4.7e-02
lung carcinoma 1.100 5.1e-21
Breast cancer -1.100 3.4e-05
mucosa-associated lymphoid tissue lympho... 1.842 1.3e-02
invasive ductal carcinoma -1.700 7.7e-04
ovarian cancer -2.100 7.6e-06

Gene RIF (73)

PMID Text
25785549 study found SNP rs7754840 in CDKAL1, rs864745 in JAZF1, and rs35767 in IGF1 might serve as potential susceptibility loci for type 2 diabetes in the Uyghur population
25596907 genetic association study in Han population in China: Data suggest an SNP in PXK [rs2176082(C/T); but not rs6445975(G/T)] is associated with recurrent pregnancy loss; SNPs in KIAA0319L [rs2275247(A/G)] or JAZF1 [rs1635852(C/T)] are not associated.
24801046 In African American men, the association between JAZF1 rs10486567 and prostate cancer may be modified by exposure to heavy metals such as Pb.
23740937 study determined that the previously described systemic lupus erythematosus susceptibility loci PXK (P = 3.27 x 10(-11), OR = 1.20) and JAZF1 (P = 1.11 x 10(-8), OR = 1.13) are shared with systemic sclerosis
23328127 genetic association studies in a population in Utah: Data suggest that an SNP in JAZF1 (rs1635852) is associated with type 2 diabetes; this SNP in JAZF1 intron 1 is part of a cis-regulatory complex.
22918161 Morphological features, immunoprofile and fluorescence in situ hybridization rearrangements of JAZF1 and PHF1 genes were correlated with tumor category and outcome in endometrial sarcomas
22113416 This study indicates a nominal role for JAZF1 and BCL11A variants in type 2 diabetes susceptibility in African-Americans.
21071540 Observational study of gene-disease association. (HuGE Navigator)
21068098 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
20927120 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
20889853 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
20879858 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20878950 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
20816152 Observational study of gene-disease association. (HuGE Navigator)
20717903 Observational study of gene-disease association. (HuGE Navigator)
20712903 Observational study of gene-disease association. (HuGE Navigator)
20690139 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
20546612 Observational study of gene-disease association. (HuGE Navigator)
20490451 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
20460480 Observational study of gene-disease association. (HuGE Navigator)
20450899 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20406958 Single-nucleotide polymorphism of rs10486567 in JAZF1 is associated with prostate cancer.
20406958 Observational study of gene-disease association. (HuGE Navigator)
20379614 Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
20203524 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20161779 Observational study of gene-disease association. (HuGE Navigator)
20075150 Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator)
19998368 The JAZF1 SNPs rs6968704 and rs10486567 were associated with decreased risk of prostate cancer but were not associated with diabetes.
19998368 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19933996 Observational study of gene-disease association. (HuGE Navigator)
19902474 Observational study of gene-disease association. (HuGE Navigator)
19900942 Observational study of gene-disease association. (HuGE Navigator)
19866473 Observational study of gene-disease association. (HuGE Navigator)
19862325 Observational study of gene-disease association. (HuGE Navigator)
19838195 identified five new systemic lupus erythematosus susceptibility loci (P < 5 x 10(-8)): TNIP1 (odds ratio (OR) = 1.27), PRDM1 (OR = 1.20), JAZF1 (OR = 1.20), UHRF1BP1 (OR = 1.17) and IL10 (OR = 1.19).
19838195 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
19833888 Observational study of gene-disease association. (HuGE Navigator)
19794065 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19741467 Observational study of gene-disease association. (HuGE Navigator)
19720844 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19670153 Observational study of gene-disease association. (HuGE Navigator)
19602701 Meta-analysis and HuGE review of gene-disease association. (HuGE Navigator)
19592620 Observational study of gene-disease association. (HuGE Navigator)
19549807 Observational study of gene-disease association. (HuGE Navigator)
19542872 The JAZF1-JJAZ1 gene fusion was not identified in any Uterine tumor resembling ovarian sex cord tumors
19502414 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19423541 Observational study of gene-disease association. (HuGE Navigator)
19366831 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19343178 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19324937 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19318432 Observational study of gene-disease association. (HuGE Navigator)
19258404 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
19247373 Observational study of gene-disease association. (HuGE Navigator)
19225753 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19139842 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19020324 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19020323 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18952825 Observational study, meta-analysis, and genome-wide association study of gene-disease association. (HuGE Navigator)
18952825 Linkage and genome-wide association analyses independently identified the JAZF1 affecting human height.
18794092 Observational study of gene-disease association. (HuGE Navigator)
18772439 study shows normal endometrial stromal cells contain a specific chimeric RNA joining 5' exons of JAZF1 gene on chromosome 7p15 to 3' exons of JJAZ1/SUZ12 gene on chromosome 17q11; this RNA is translated into JAZF1-JJAZ1 with anti-apoptotic activity
18722875 predicted 684-amino acid JAZF1/PHF1 chimeric protein retained one zinc finger domain from JAZF1 and the two zinc finger domains from PHF1, and its oncogenic mechanism should be similar to that of the JAZF1/SUZ12 protein
18714373 Observational study of gene-disease association. (HuGE Navigator)
18694974 Study show that polymorphisms in JAZF1 were associated with type 2 diabetes risk in the studied population.
18591388 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
18567820 Observational study of gene-disease association. (HuGE Navigator)
18372903 Meta-analysis and genome-wide association study of gene-disease association. (HuGE Navigator)
18264096 Genome-wide association study of gene-disease association. (HuGE Navigator)
18077430 Both benign and malignant forms of endometrial stromal tumor have the JAZF1-JJAZ1 fusion, but only the malignant form also exhibits exclusion of the unrearranged JJAZ1 allele.
17667554 The JAFZ1-JJAZ1 fusion gene is present in the endometrial stromal and smooth muscle components of endometrial stromal tumors.
17197920 The JAZF1-JJAZ1 fusion is a frequent, although nonuniform, feature of endometrial stromal neoplasia.
15302918 TIP27 (TAK1-interacting protein 27; sequence indentical to JAZF1) functions as a repressor of the nuclear orphan receptor TAK1/TR4.
15043312 Endometrial stromal tumors(ESTs) are genetically heterogeneous, with prevalence of JAZF1-JJAZ1 fusion highest among ESTs of classic histology. Diagnostic utility of JAZF1-JJAZ1 fusion transcript assay in ESTs may be limited to classic histologic subset.

AA Sequence

MTGIAAASFFSNTCRFGGCGLHFPTLADLIEHIEDNHIDTDPRVLEKQELQQPTYVALSYINRFMTDAAR      1 - 70
REQESLKKKIQPKLSLTLSSSVSRGNVSTPPRHSSGSLTPPVTPPITPSSSFRSSTPTGSEYDEEEVDYE     71 - 140
ESDSDESWTTESAISSEAILSSMCMNGGEEKPFACPVPGCKKRYKNVNGIKYHAKNGHRTQIRVRKPFKC    141 - 210
RCGKSYKTAQGLRHHTINFHPPVSAEIIRKMQQ                                         211 - 243
//

Text Mined References (87)

PMID Year Title
25785549 2015 The Uyghur population and genetic susceptibility to type 2 diabetes: potential role for variants in CDKAL1, JAZF1, and IGF1 genes.
25596907 2015 Association between KIAA0319L, PXK and JAZF1 gene polymorphisms and unexplained recurrent pregnancy loss in Chinese Han couples.
24801046 2014 Gene-environment interactions between JAZF1 and occupational and household lead exposure in prostate cancer among African American men.
24722205 2014 A genome-wide association study on thyroid function and anti-thyroid peroxidase antibodies in Koreans.
24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
24390342 2014 Genetics of rheumatoid arthritis contributes to biology and drug discovery.
23740937 2013 A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
23563607 2013 Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
23400010 2014 Genome-wide association analyses suggest NELL1 influences adverse metabolic response to HCTZ in African Americans.
23328127 2013 Allele-specific transcriptional activity at type 2 diabetes-associated single nucleotide polymorphisms in regions of pancreatic islet open chromatin at the JAZF1 locus.
23186163 2013 Toward a comprehensive characterization of a human cancer cell phosphoproteome.
23128233 2012 Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
22918161 2013 Endometrial sarcomas: an immunohistochemical and JAZF1 re-arrangement study in low-grade and undifferentiated tumors.
22113416 2012 Single nucleotide polymorphisms in JAZF1 and BCL11A gene are nominally associated with type 2 diabetes in African-American families from the GENNID study.
21071540 2011 Validation of genome-wide prostate cancer associations in men of African descent.
21068098 2011 Study of the common genetic background for rheumatoid arthritis and systemic lupus erythematosus.
20927120 2010 Variations in/nearby genes coding for JAZF1, TSPAN8/LGR5 and HHEX-IDE and risk of type 2 diabetes in Han Chinese.
20889853 2011 Genetic risk reclassification for type 2 diabetes by age below or above 50 years using 40 type 2 diabetes risk single nucleotide polymorphisms.
20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.
20879858 2010 Impact of single nucleotide polymorphisms and of clinical risk factors on new?onset diabetes mellitus in HIV?infected individuals.
20878950 2011 Inherited genetic markers discovered to date are able to identify a significant number of men at considerably elevated risk for prostate cancer.
20816152 2010 Obesity and diabetes genetic variants associated with gestational weight gain.
20717903 2011 Evidence for an association between prostate cancer and chromosome 8q24 and 10q11 genetic variants in African American men: the Flint Men's Health Study.
20712903 2010 Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
20690139 2011 Meta-analysis of genome-wide and replication association studies on prostate cancer.
20581827 2010 Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
20546612 2010 The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature.
20490451 2010 Type 2 diabetes risk alleles near ADCY5, CDKAL1 and HHEX-IDE are associated with reduced birthweight.
20460480 2010 Susceptibility loci associated with prostate cancer progression and mortality.
20450899 2010 Individual and cumulative association of prostate cancer susceptibility variants with clinicopathologic characteristics of the disease.
20406958 2010 Refining the prostate cancer genetic association within the JAZF1 gene on chromosome 7p15.2.
20379614 Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
20203524 2010 Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk.
20161779 2010 Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.
20075150 2010 Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.
19998368 2010 HNF1B and JAZF1 genes, diabetes, and prostate cancer risk.
19933996 2010 Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI.
19902474 2010 Replication of prostate cancer risk loci on 8q24, 11q13, 17q12, 19q33, and Xp11 in African Americans.
19900942 2009 Prognostic significance of prostate cancer susceptibility variants on prostate-specific antigen recurrence after radical prostatectomy.
19866473 2010 Association of 17 prostate cancer susceptibility loci with prostate cancer risk in Chinese men.
19862325 2009 PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.
19838195 2009 A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
19833888 2010 Gene variants in the novel type 2 diabetes loci CDC123/CAMK1D, THADA, ADAMTS9, BCL11A, and MTNR1B affect different aspects of pancreatic beta-cell function.
19794065 2010 Polygenic risk variants for type 2 diabetes susceptibility modify age at diagnosis in monogenic HNF1A diabetes.
19741467 2009 Association of common type 2 diabetes risk gene variants and posttransplantation diabetes mellitus in renal allograft recipients in Korea.
19720844 2009 Use of multiple metabolic and genetic markers to improve the prediction of type 2 diabetes: the EPIC-Potsdam Study.
19670153 2010 Lack of significant effects of the type 2 diabetes susceptibility loci JAZF1, CDC123/CAMK1D, NOTCH2, ADAMTS9, THADA, and TSPAN8/LGR5 on diabetes and quantitative metabolic traits.
19602701 2009 Underlying genetic models of inheritance in established type 2 diabetes associations.
19592620 2009 Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene.
19549807 2009 Prostate cancer risk associated loci in African Americans.
19542872 2009 Uterine tumors resembling ovarian sex cord tumors (UTROSCT) lack the JAZF1-JJAZ1 translocation frequently seen in endometrial stromal tumors.
19502414 2009 Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men.
19423541 2009 Established prostate cancer susceptibility variants are not associated with disease outcome.
19366831 2009 Analysis of recently identified prostate cancer susceptibility loci in a population-based study: associations with family history and clinical features.
19343178 2009 Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size.
19324937 2009 Previously associated type 2 diabetes variants may interact with physical activity to modify the risk of impaired glucose regulation and type 2 diabetes: a study of 16,003 Swedish adults.
19318432 2009 Generalizability of associations from prostate cancer genome-wide association studies in multiple populations.
19258404 2009 The inhibitory effect of recent type 2 diabetes risk loci on insulin secretion is modulated by insulin sensitivity.
19247373 2009 Testing the association of novel meta-analysis-derived diabetes risk genes with type II diabetes and related metabolic traits in Asian Indian Sikhs.
19225753 2009 Interaction between prenatal growth and high-risk genotypes in the development of type 2 diabetes.
19139842 2009 Risk prediction of prevalent diabetes in a Swiss population using a weighted genetic score--the CoLaus Study.
19020324 2008 Clinical risk factors, DNA variants, and the development of type 2 diabetes.
19020323 2008 Genotype score in addition to common risk factors for prediction of type 2 diabetes.
18952825 2009 Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis.
18794092 2008 Association of prostate cancer risk variants with clinicopathologic characteristics of the disease.
18772439 2008 A neoplastic gene fusion mimics trans-splicing of RNAs in normal human cells.
18722875 2008 An endometrial stromal sarcoma cell line with the JAZF1/PHF1 chimera.
18714373 2008 Novel meta-analysis-derived type 2 diabetes risk loci do not determine prediabetic phenotypes.
18694974 2008 Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.
18591388 2008 Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.
18567820 2008 Association testing of novel type 2 diabetes risk alleles in the JAZF1, CDC123/CAMK1D, TSPAN8, THADA, ADAMTS9, and NOTCH2 loci with insulin release, insulin sensitivity, and obesity in a population-based sample of 4,516 glucose-tolerant middle-aged Danes.
18372903 2008 Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
18264096 2008 Multiple loci identified in a genome-wide association study of prostate cancer.
18077430 2007 Effects of rearrangement and allelic exclusion of JJAZ1/SUZ12 on cell proliferation and survival.
17974005 2007 The full-ORF clone resource of the German cDNA Consortium.
17667554 2007 High frequency of JAZF1-JJAZ1 gene fusion in endometrial stromal tumors with smooth muscle differentiation by interphase FISH detection.
17197920 2007 Molecular analysis of the JAZF1-JJAZ1 gene fusion by RT-PCR and fluorescence in situ hybridization in endometrial stromal neoplasms.
16397222 2006 Consistent rearrangement of chromosomal band 6p21 with generation of fusion genes JAZF1/PHF1 and EPC1/PHF1 in endometrial stromal sarcoma.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15302918 2004 TIP27: a novel repressor of the nuclear orphan receptor TAK1/TR4.
15043312 2004 Molecular detection of JAZF1-JJAZ1 gene fusion in endometrial stromal neoplasms with classic and variant histology: evidence for genetic heterogeneity.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
12690205 2003 Human chromosome 7: DNA sequence and biology.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
11371647 2001 Frequent fusion of the JAZF1 and JJAZ1 genes in endometrial stromal tumors.
8401585 1993 Rapid cDNA sequencing (expressed sequence tags) from a directionally cloned human infant brain cDNA library.