| Tbio | Pre-mRNA 3'-end-processing factor FIP1 |
Component of the cleavage and polyadenylation specificity factor (CPSF) complex that plays a key role in pre-mRNA 3'-end formation, recognizing the AAUAAA signal sequence and interacting with poly(A) polymerase and other factors to bring about cleavage and poly(A) addition. FIP1L1 contributes to poly(A) site recognition and stimulates poly(A) addition. Binds to U-rich RNA sequence elements surrounding the poly(A) site. May act to tether poly(A) polymerase to the CPSF complex.
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]
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]
Comments
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Hypereosinophilic syndrome | 71 | 6.866 | 3.4 |
| Disease | Target Count |
|---|---|
| Chronic eosinophilic leukemia | 11 |
| Disease | Target Count | P-value |
|---|---|---|
| ovarian cancer | 8520 | 6.2e-06 |
| psoriasis | 6694 | 7.2e-05 |
| osteosarcoma | 7950 | 5.5e-04 |
| intraductal papillary-mucinous carcinoma (IPMC) | 2989 | 2.4e-03 |
| intraductal papillary-mucinous adenoma (IPMA) | 2955 | 5.0e-03 |
| Disease | Target Count | Z-score | Confidence |
|---|---|---|---|
| Mastocytosis | 27 | 5.161 | 2.6 |
| Endomyocardial Fibrosis | 13 | 4.959 | 2.5 |
| Leukemia | 104 | 4.873 | 2.4 |
| Loeffler endocarditis | 2 | 4.547 | 2.3 |
| Myeloid neoplasm | 3 | 3.957 | 2.0 |
| Polycythemia vera | 27 | 3.51 | 1.8 |
| Subepithelial mucinous corneal dystrophy | 3 | 3.47 | 1.7 |
| mast-cell sarcoma | 2 | 3.344 | 1.7 |
| Eosinophilic gastroenteritis | 7 | 3.2 | 1.6 |
| Churg-Strauss syndrome | 5 | 3.05 | 1.5 |
| Disease | Target Count |
|---|---|
| Acute Promyelocytic Leukemia | 40 |
| Disease | log2 FC | p |
|---|---|---|
| intraductal papillary-mucinous adenoma (... | 1.300 | 5.0e-03 |
| intraductal papillary-mucinous carcinoma... | 1.200 | 2.4e-03 |
| osteosarcoma | -1.253 | 5.5e-04 |
| ovarian cancer | 2.000 | 6.2e-06 |
| psoriasis | -1.500 | 7.2e-05 |
MSAGEVERLVSELSGGTGGDEEEEWLYGGPWDVHVHSDLAKDLDENEVERPEEENASANPPSGIEDETAE 1 - 70 NGVPKPKVTETEDDSDSDSDDDEDDVHVTIGDIKTGAPQYGSYGTAPVNLNIKTGGRVYGTTGTKVKGVD 71 - 140 LDAPGSINGVPLLEVDLDSFEDKPWRKPGADLSDYFNYGFNEDTWKAYCEKQKRIRMGLEVIPVTSTTNK 141 - 210 ITAEDCTMEVTPGAEIQDGRFNLFKVQQGRTGNSEKETALPSTKAEFTSPPSLFKTGLPPSRNSTSSQSQ 211 - 280 TSTASRKANSSVGKWQDRYGRAESPDLRRLPGAIDVIGQTITISRVEGRRRANENSNIQVLSERSATEVD 281 - 350 NNFSKPPPFFPPGAPPTHLPPPPFLPPPPTVSTAPPLIPPPGFPPPPGAPPPSLIPTIESGHSSGYDSRS 351 - 420 ARAFPYGNVAFPHLPGSAPSWPSLVDTSKQWDYYARREKDRDRERDRDRERDRDRDRERERTRERERERD 421 - 490 HSPTPSVFNSDEERYRYREYAERGYERHRASREKEERHRERRHREKEETRHKSSRSNSRRRHESEEGDSH 491 - 560 RRHKHKKSKRSKEGKEAGSEPAPEQESTEATPAE 561 - 594 //
