🧬 基因注释：FIP1L1

官方名称：factor interacting with PAPOLA and CPSF1

功能摘要：This gene encodes a subunit of the CPSF (cleavage and polyadenylation specificity factor) complex that polyadenylates the 3' end of mRNA precursors. This gene, the homolog of yeast Fip1 (factor interacting with PAP), binds to U-rich sequences of pre-mRNA and stimulates poly(A) polymerase activity. Its N-terminus contains a PAP-binding site and its C-terminus an RNA-binding domain. An interstitial chromosomal deletion on 4q12 creates an in-frame fusion of human genes FIP1L1 and PDGFRA (platelet-derived growth factor receptor, alpha). The FIP1L1-PDGFRA fusion gene encodes a constitutively activated tyrosine kinase that joins the first 233 amino acids of FIP1L1 to the last 523 amino acids of PDGFRA. This gene fusion and chromosomal deletion is the cause of some forms of idiopathic hypereosinophilic syndrome (HES). This syndrome, recently reclassified as chronic eosinophilic leukemia (CEL), is responsive to treatment with tyrosine kinase inhibitors. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Oct 2008].

• HNRNPC 综合评分: 0.412 · 证据 2 条
• HNRNPH1 综合评分: 0.412 · 证据 2 条
• FUS 综合评分: 0.362 · 证据 1 条
• HNRNPL 综合评分: 0.362 · 证据 2 条
• Srsf3 综合评分: 0.362 · 证据 1 条
• fus 综合评分: 0.362 · 证据 1 条
• HNRNPA1 综合评分: 0.350 · 证据 2 条
• HNRNPA2B1 综合评分: 0.350 · 证据 2 条
• HNRNPM 综合评分: 0.350 · 证据 2 条
• QKI 综合评分: 0.350 · 证据 1 条
• PRPF8 综合评分: 0.324 · 证据 1 条
• RBM10 综合评分: 0.312 · 证据 2 条
• RBM22 综合评分: 0.312 · 证据 2 条
• RBM39 综合评分: 0.312 · 证据 2 条
• HNRNPD 综合评分: 0.300 · 证据 2 条
• KHSRP 综合评分: 0.300 · 证据 2 条
• PTBP1 综合评分: 0.300 · 证据 2 条
• RBFOX2 综合评分: 0.300 · 证据 2 条
• SRSF2 综合评分: 0.300 · 证据 1 条
• SRSF3 综合评分: 0.300 · 证据 1 条

该基因暂无关联疾病记录