EWSR1 EWSR1-FLI1

在约90%的尤因肉瘤/原发性神经外胚层肿瘤(ES/PNET)中,识别出易位T(11;22)(q24;q12),将EWSR1的5'外显子(包含转激活素域,至少外显子1-7)与fli1的3'外显子(来自外显子9,编码DNA结合域)融合。
In approximately 90% of Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET) a translocation t(11;22)(q24; q12) is identified, fusing the 5’ exons (containing the transactivatin domain, at least exon 1-7) of EWSR1, with the 3’ exons (from exon 9, coding the DNA binding domain) of FLI1.

别名

EWS-FLI,T(11;22)(Q24;Q12)
Allele Registry ID:
ClinVar ID:

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
222966430729688158
Transcript
ENST00000414183.2
COORDINATE 2
Chr.StartStopTranscript
11128638013128683162ENST00000527786.2

基因序列