Medical Knowledge Cockpit tremor, hereditary essential

• mRNA Splicing
  Major pathway {:one=>"one gene", :other=>"%{count} genes"}

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FUS

Somatic tumors

liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma

Tumor types germline

Cancer Syndrom

Translocation partner

DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1, NFATC2

Name

fusion, derived from t(12;16) malignant liposarcoma

Chromosome banding

16p11.2

Cancer molecular gen.

Dom

Mutation type

T

Other syndrome disease

ETM2

• Heritable essential tremor-idiopathic normal pressure hydrocephalus (ETINPH)

FUS

• TLS/FUS fusion domain of TLS/FUS-erg chimeric protein resulting from the t(16;21) chromosomal translocation in human myeloid leukemia functions as a transcriptional activation domain
• Fusion of CHOP to a novel RNA-binding protein in human myxoid liposarcoma
• Chromosome 12 breakpoints are cytogenetically different in benign and malignant lipogenic tumors: localization of breakpoints in lipoma to 12q15 and in myxoid liposarcoma to 12q13.3
• Expression patterns of the human sarcoma-associated genes FUS and EWS and the genomic structure of FUS
• Genomic structure of the human RBP56/hTAFII68 and FUS/TLS genes

• The N-terminal domain of human TAFII68 displays transactivation and oncogenic properties
• Detection of arginine dimethylated peptides by parallel precursor ion scanning mass spectrometry in positive ion mode
• Domain architectures and characterization of an RNA-binding protein, TLS