NUTM2B, NUT family member 2B, 729262

N. diseases: 7; N. variants: 0
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0334488
Disease: Clear cell sarcoma of kidney
Clear cell sarcoma of kidney 		0.340 GeneticVariation disease BEFREE This and the YWHAE-NUTM2B/E fusion, the second most common recurrent molecular alteration in CCSK (10%), are considered to be mutually exclusive. 28440018 2017
CUI: C0334488
Disease: Clear cell sarcoma of kidney
Clear cell sarcoma of kidney 		0.340 Biomarker disease BEFREE BCOR internal tandem duplication and YWHAE-NUTM2B/E fusion are mutually exclusive events in clear cell sarcoma of the kidney. 26493387 2016
CUI: C0334488
Disease: Clear cell sarcoma of kidney
Clear cell sarcoma of kidney 		0.340 GeneticVariation disease BEFREE Until now, the sole recurrent genetic aberration identified in CCSKs is t(10;17)(q22;p13), which gives rise to a fusion transcript of YWHAE and NUTM2B/E. 26542179 2016
CUI: C0334488
Disease: Clear cell sarcoma of kidney
Clear cell sarcoma of kidney 		0.340 GeneticVariation disease BEFREE Based on the chromosome 10 breakpoint identified by FISH and the sequences of the full-length transcripts obtained, the FAM22 members involved in the translocation in these CCSK cases include FAM22B and FAM22E. 22294382 2012
CUI: C0334488
Disease: Clear cell sarcoma of kidney
Clear cell sarcoma of kidney 		0.340 FusionGene disease ORPHANET Based on the chromosome 10 breakpoint identified by FISH and the sequences of the full-length transcripts obtained, the FAM22 members involved in the translocation in these CCSK cases include FAM22B and FAM22E. 22294382 2012
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma 		0.320 Biomarker disease BEFREE Collectively, these findings suggest that abnormality in the loci of YWHAE, FAM22A and FAM22B, which are known to be associated with oncogenesis of endometrial stromal sarcoma, may contribute to the development of uterine angiosarcoma. 24125656 2014
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma 		0.320 FusionGene disease ORPHANET Endometrial stromal tumors: the new WHO classification. 25299308 2014
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma 		0.320 GeneticVariation disease BEFREE A subset of endometrial stromal sarcoma harbors t(10;17)(q23;p13), which results in the genetic fusion between YWHAE and 1 of 2 highly homologous FAM22 family members-FAM22A or FAM22B. 23159154 2013
CUI: C0206630
Disease: Endometrial Stromal Sarcoma
Endometrial Stromal Sarcoma 		0.320 FusionGene disease ORPHANET 14-3-3 fusion oncogenes in high-grade endometrial stromal sarcoma. 22223660 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 GeneticVariation group BEFREE However, insufficient frequency of YWHAE, NUTM2A, and NUTM2B gene rearrangement and absence of mutation in both the c-kit and PDGFRA genes suggested that this tumor should be categorized as epithelioid leiomyosarcoma. 28288693 2017
CUI: C1336899
Disease: Uterine Angiosarcoma
Uterine Angiosarcoma 		0.020 Biomarker disease BEFREE Although it was reported previously that there was breakage in YWHAE, NUTM2A (FAM22A), and NUTM2B (FAM22B) in a case of uterine angiosarcoma, no breakage in these loci was detected by fluorescence in situ hybridization in the present case. 26352549 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 GeneticVariation group BEFREE One tumor with t(10;17)(q22;p13) involving fusion of YHWAE with NUTM2B was identified. 26158413 2015
CUI: C1336899
Disease: Uterine Angiosarcoma
Uterine Angiosarcoma 		0.020 GeneticVariation disease BEFREE Breakages at YWHAE, FAM22A, and FAM22B loci in uterine angiosarcoma: a case report with immunohistochemical and genetic analysis. 24125656 2014
CUI: C0205815
Disease: Leiomyosarcoma, Epithelioid
Leiomyosarcoma, Epithelioid 		0.010 GeneticVariation disease BEFREE However, insufficient frequency of YWHAE, NUTM2A, and NUTM2B gene rearrangement and absence of mutation in both the c-kit and PDGFRA genes suggested that this tumor should be categorized as epithelioid leiomyosarcoma. 28288693 2017
CUI: C4048304
Disease: Undifferentiated round cell sarcoma
Undifferentiated round cell sarcoma 		0.010 Biomarker disease BEFREE An identical YWHAE-NUTM2B fusion was found in another URCS case of a 5-month-old girl with a back lesion. 26945340 2016
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 Biomarker phenotype BEFREE Collectively, these findings suggest that abnormality in the loci of YWHAE, FAM22A and FAM22B, which are known to be associated with oncogenesis of endometrial stromal sarcoma, may contribute to the development of uterine angiosarcoma. 24125656 2014