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GENATLAS PHENOTYPE

last update : 4/10/2006

Symbol	ASPS
Location	17q25 and Xp11.2
Name	alveolar soft-part sarcoma
Corresponding gene	TFE3 , ASPSCR1
Main clinical features	alveolar soft-part sarcoma
Genetic determination
Function/system disorder	neoplasia
Type	malignancy

Gene product

Name	ASPL-TFE3 fusion transcripts

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
	translocation	other	tumoral, acquired unbalanced translocation der (17) t(X;17)(p11.2;q25)

Remark(s)

ASPL-TFE3 fusion transcripts associated with an acquired balanced t(X;17)(p11.2;q25) are also observed in a subset of renal cell carcinoma of children and adults