SF3B1 (splicing factor 3b subunit 1)

2012-03-01  

Identity

HGNC
LOCATION
2q33.1
LOCUSID
ALIAS
Hsh155,MDS,PRP10,PRPF10,SAP155,SF3b155
FUSION GENES

Other Information

Locus ID:

NCBI: 23451
MIM: 605590
HGNC: 10768
Ensembl: ENSG00000115524

Variants:

dbSNP: 23451
ClinVar: 23451
TCGA: ENSG00000115524
COSMIC: SF3B1

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115524ENST00000335508O75533
ENSG00000115524ENST00000409915O75533
ENSG00000115524ENST00000414174F8WC19
ENSG00000115524ENST00000414963O75533
ENSG00000115524ENST00000424674H7C341
ENSG00000115524ENST00000487698B4DGZ4
ENSG00000115524ENST00000652026B4DGZ4
ENSG00000115524ENST00000652738A0A494C1M2

Expression (GTEx)

0
50
100
150
200
250

Pathways

PathwaySourceExternal ID
SpliceosomeKEGGko03040
SpliceosomeKEGGhsa03040
Spliceosome, U2-snRNPKEGGhsa_M00352
Spliceosome, U2-snRNPKEGGM00352
Gene ExpressionREACTOMER-HSA-74160
Processing of Capped Intron-Containing Pre-mRNAREACTOMER-HSA-72203
mRNA SplicingREACTOMER-HSA-72172
mRNA Splicing - Major PathwayREACTOMER-HSA-72163
mRNA Splicing - Minor PathwayREACTOMER-HSA-72165
Epigenetic regulation of gene expressionREACTOMER-HSA-212165
Positive epigenetic regulation of rRNA expressionREACTOMER-HSA-5250913
B-WICH complex positively regulates rRNA expressionREACTOMER-HSA-5250924

Protein levels (Protein atlas)

Not detected
Low
Medium
High

References

Pubmed IDYearTitleCitations
219953862011Somatic SF3B1 mutation in myelodysplasia with ring sideroblasts.356
221585412011Exome sequencing identifies recurrent mutations of the splicing factor SF3B1 gene in chronic lymphocytic leukemia.344
233139552013Recurrent mutations at codon 625 of the splicing factor SF3B1 in uveal melanoma.150
223234802012Mutations in the spliceosome machinery, a novel and ubiquitous pathway in leukemogenesis.146
255503612015Acute myeloid leukemia ontogeny is defined by distinct somatic mutations.146
237930262013Exome sequencing identifies recurrent somatic mutations in EIF1AX and SF3B1 in uveal melanoma with disomy 3.139
219982142011Clinical significance of SF3B1 mutations in myelodysplastic syndromes and myelodysplastic/myeloproliferative neoplasms.127
288101452017Integrative Analysis Identifies Four Molecular and Clinical Subsets in Uveal Melanoma.123
232432742013Integrated mutational and cytogenetic analysis identifies new prognostic subgroups in chronic lymphocytic leukemia.120
246529892014Gene mutations and treatment outcome in chronic lymphocytic leukemia: results from the CLL8 trial.117

Citation

Dessen P

SF3B1 (splicing factor 3b subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-03-01

Online version: http://atlasgeneticsoncology.org/gene/52653/sf3b1