SPOP, speckle type BTB/POZ protein, 8405

N. diseases: 72; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.340 GeneticVariation group BEFREE Interestingly, in absence of SPOP mutations, downregulation of this gene is a feature of many ERG-rearranged prostate tumors. 31090082 2019
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.340 GeneticVariation group BEFREE SPOP mutation drives prostate neoplasia without stabilizing oncogenic transcription factor ERG. 29202479 2018
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.340 Biomarker group CTD_human The long tail of oncogenic drivers in prostate cancer. 29610475 2018
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.340 Biomarker group CTD_human Cribriform and intraductal prostate cancer are associated with increased genomic instability and distinct genomic alterations. 29295717 2018
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.340 GeneticVariation group BEFREE We sequenced the SPOP gene to identify somatic mutations in 49 AA prostate tumors and identified three missense mutations (p.Y87C, p.F102S, and p.G111E) in five AA prostate tumors (10%) and one synonymous variant (p.I106I) in one tumor. 24994784 2015
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.340 AlteredExpression group BEFREE Furthermore, SENP7 is expressed at higher levels in prostate tumor specimens with SPOP mutation (n = 13) compared to those with wild-type SPOP (n = 80). 26527005 2015
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms
0.340 Biomarker group CTD_human Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer. 22610119 2012