Property Summary

NCBI Gene PubMed Count 103
Grant Count 16
R01 Count 11
Funding $1,093,397.2
PubMed Score 38.51
PubTator Score 157.34

Knowledge Summary

Patent

No data available

Expression

  Differential Expression (15)

Disease log2 FC p
astrocytic glioma 1.600 0.005
ependymoma 1.500 0.004
oligodendroglioma 1.600 0.003
psoriasis -2.400 0.000
osteosarcoma -1.254 0.015
atypical teratoid / rhabdoid tumor 1.500 0.001
glioblastoma 1.200 0.008
medulloblastoma, large-cell 1.200 0.000
primitive neuroectodermal tumor 1.200 0.001
pancreatic ductal adenocarcinoma liver m... 1.429 0.030
sonic hedgehog group medulloblastoma 1.100 0.000
Pick disease -1.100 0.000
progressive supranuclear palsy -1.300 0.004
ovarian cancer -1.900 0.000
Gaucher disease type 1 -1.300 0.019

Gene RIF (82)

PMID Text
26970172 SF3B1-mutated myelodysplastic syndrome with ring sideroblasts harbors more severe iron overload and corresponding over-erythropoiesis.
26842708 In uveal melanoma, the SF3B1(R625/K666) mutation results in deregulated splicing at a subset of junctions, mostly by the use of alternative 3'ss.
26769193 The finding of this study showed that an SF3B1 or EIF1AX mutation is present in a substantial subset of primary LMNs underscores that these tumors genetically resemble uveal melanoma and are different from cutaneous melanoma at the genetic level.
26742993 studies reveal new mechanistic insight into SF3B1 as a principal player in the spliceosome and as a target of inhibitor compounds
26643973 SF3B1 mutations can propagate from hematopoietic stem cells to myeloid progeny causing myelodysplastic syndromes.
26562302 Data show that tet methylcytosine dioxygenase 2 TET2, isocitrate dehydrogenases 1/2 IDH1/IDH2, serine/arginine-rich splicing factor 2 SRSF2, splicing factor 3b subunit 1 SF3B1, and ras proteins (KRAS/NRAS) are not conserved in dog mast Cell tumors.
26460480 SF3B1 - novel candidate genes validated in a large case-control sample of schizophrenia.
26083752 myocardial hypoxia actuates fructose metabolism in human and mouse models of pathological cardiac hypertrophy through hypoxia-inducible factor 1alpha (HIF1alpha) activation of SF3B1 and SF3B1-mediated splice switching of KHK-A to KHK-C
25957392 SF3B1 mutation identifies a distinct Myelodysplastic syndrome subtype that is unlikely to develop detrimental subclonal mutations and is characterized by indolent clinical course and favorable outcome.
25892229 SF3B1 is associated with nucleosomes positioned over exons. SF3B1 binding of nucleosomes facilitates the splicing recognition of exons.
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AA Sequence

MAKIAKTHEDIEAQIREIQGKKAALDEAQGVGLDSTGYYDQEIYGGSDSRFAGYVTSIAATELEDDDDDY      1 - 70
SSSTSLLGQKKPGYHAPVALLNDIPQSTEQYDPFAEHRPPKIADREDEYKKHRRTMIISPERLDPFADGG     71 - 140
KTPDPKMNARTYMDVMREQHLTKEEREIRQQLAEKAKAGELKVVNGAAASQPPSKRKRRWDQTADQTPGA    141 - 210
TPKKLSSWDQAETPGHTPSLRWDETPGRAKGSETPGATPGSKIWDPTPSHTPAGAATPGRGDTPGHATPG    211 - 280
HGGATSSARKNRWDETPKTERDTPGHGSGWAETPRTDRGGDSIGETPTPGASKRKSRWDETPASQMGGST    281 - 350
PVLTPGKTPIGTPAMNMATPTPGHIMSMTPEQLQAWRWEREIDERNRPLSDEELDAMFPEGYKVLPPPAG    351 - 420
YVPIRTPARKLTATPTPLGGMTGFHMQTEDRTMKSVNDQPSGNLPFLKPDDIQYFDKLLVDVDESTLSPE    421 - 490
EQKERKIMKLLLKIKNGTPPMRKAALRQITDKAREFGAGPLFNQILPLLMSPTLEDQERHLLVKVIDRIL    491 - 560
YKLDDLVRPYVHKILVVIEPLLIDEDYYARVEGREIISNLAKAAGLATMISTMRPDIDNMDEYVRNTTAR    561 - 630
AFAVVASALGIPSLLPFLKAVCKSKKSWQARHTGIKIVQQIAILMGCAILPHLRSLVEIIEHGLVDEQQK    631 - 700
VRTISALAIAALAEAATPYGIESFDSVLKPLWKGIRQHRGKGLAAFLKAIGYLIPLMDAEYANYYTREVM    701 - 770
LILIREFQSPDEEMKKIVLKVVKQCCGTDGVEANYIKTEILPPFFKHFWQHRMALDRRNYRQLVDTTVEL    771 - 840
ANKVGAAEIISRIVDDLKDEAEQYRKMVMETIEKIMGNLGAADIDHKLEEQLIDGILYAFQEQTTEDSVM    841 - 910
LNGFGTVVNALGKRVKPYLPQICGTVLWRLNNKSAKVRQQAADLISRTAVVMKTCQEEKLMGHLGVVLYE    911 - 980
YLGEEYPEVLGSILGALKAIVNVIGMHKMTPPIKDLLPRLTPILKNRHEKVQENCIDLVGRIADRGAEYV    981 - 1050
SAREWMRICFELLELLKAHKKAIRRATVNTFGYIAKAIGPHDVLATLLNNLKVQERQNRVCTTVAIAIVA   1051 - 1120
ETCSPFTVLPALMNEYRVPELNVQNGVLKSLSFLFEYIGEMGKDYIYAVTPLLEDALMDRDLVHRQTASA   1121 - 1190
VVQHMSLGVYGFGCEDSLNHLLNYVWPNVFETSPHVIQAVMGALEGLRVAIGPCRMLQYCLQGLFHPARK   1191 - 1260
VRDVYWKIYNSIYIGSQDALIAHYPRIYNDDKNTYIRYELDYIL                             1261 - 1304
//

Text Mined References (125)

PMID Year Title
26970172 2016 SF3B1-mutated myelodysplastic syndrome with ring sideroblasts harbors more severe iron overload and corresponding over-erythropoiesis.
26842708 2016 Cancer-associated SF3B1 mutations affect alternative splicing by promoting alternative branchpoint usage.
26769193 2016 SF3B1 and EIF1AX mutations occur in primary leptomeningeal melanocytic neoplasms; yet another similarity to uveal melanomas.
26742993 2016 Interchangeable SF3B1 inhibitors interfere with pre-mRNA splicing at multiple stages.
26643973 2015 SF3B1 mutant MDS-initiating cells may arise from the haematopoietic stem cell compartment.
26562302 2015 Mutational Hotspot of TET2, IDH1, IDH2, SRSF2, SF3B1, KRAS, and NRAS from Human Systemic Mastocytosis Are Not Conserved in Canine Mast Cell Tumors.
26460480 2015 Expression analysis in a rat psychosis model identifies novel candidate genes validated in a large case-control sample of schizophrenia.
26083752 2015 HIF-driven SF3B1 induces KHK-C to enforce fructolysis and heart disease.
25957392 2015 SF3B1 mutation identifies a distinct subset of myelodysplastic syndrome with ring sideroblasts.
25892229 2015 SF3B1 association with chromatin determines splicing outcomes.
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