SF3B1 (splicing factor 3b subunit 1)

2012-03-01  

Identity

HGNC
SF3B1
LOCATION
2q33.1
LOCUSID
23451
ALIAS
Hsh155,MDS,PRP10,PRPF10,SAP155,SF3b155
FUSION GENES
Show Gene Fusions

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
Adipose - Subcutaneous
Adipose - Visceral
Adrenal Gland
Artery - Aorta
Artery - Tibial
Bladder
Brain - Amygdala
Brain - Anterior cingulate cortex
Brain - Caudate
Brain - Cerebellar Hemisphere
Brain - Cerebellum
Brain - Cortex
Brain - Frontal Cortex
Brain - Hippocampus
Brain - Hypothalamus
Brain - Nucleus accumbens
Brain - Putamen
Brain - Spinal cord
Brain - Substantia nigra
Breast - Mammary Tissue
Cells - Cultured fibroblasts
Cells - EBV - transformed lymphocytes
Cervix - Ectocervix
Cervix - Endocervix
Colon - Sigmoid
Colon - Transverse
Esophagus - Gastroesophageal Junction
Esophagus - Mucosa
Esophagus - Muscularis
Fallopian Tube
Heart - Atrial Appendage
Heart - Left Ventricle
Kidney - Cortex
Kidney - Medulla
Liver
Lung
Minor Salivary Gland
Muscle - Skeletal
Nerve - Tibial
Ovary
Pancreas
Pituitary
Prostate
Skin - Not Sun Exposed
Skin - Sun Exposed
Small Intestine - Terminal Ileum
Spleen
Stomach
Testis
Thyroid
Uterus
Vagina
Whole Blood

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
cerebral cortex
cerebellum
hippocampus
caudate
thyroid gland
parathyroid gland
adrenal gland
nasopharynx
bronchus
lung
oral mucosa
salivary gland
esophagus
stomach 1
stomach 2
duodenum
small intestine
colon
rectum
liver
gallbladder
pancreas
kidney
urinary bladder
testis
epididymis
seminal vesicle
prostate
vagina
ovary
fallopian tube
endometrium 1
endometrium 2
cervix, uterine
placenta
breast
heart muscle
smooth muscle
skeletal muscle
soft tissue 1
soft tissue 2
adipose tissue
skin 1
skin 2
appendix
spleen
lymph node
tonsil
bone marrow

References

Pubmed IDYearTitleCitations
379217112024Erythroid Differentiation Enhances RNA Mis-Splicing in SF3B1-Mutant Myelodysplastic Syndromes with Ring Sideroblasts.0
385179662024SF3B1 mutations provide genetic vulnerability to copper ionophores in human acute myeloid leukemia.0
385210652024Transcription elongation defects link oncogenic SF3B1 mutations to targetable alterations in chromatin landscape.4
386323162024Mutations in the splicing factor SF3B1 are linked to frequent emergence of HLA-DR(low/neg) monocytes in lower-risk myelodysplastic neoplasms.0
379217112024Erythroid Differentiation Enhances RNA Mis-Splicing in SF3B1-Mutant Myelodysplastic Syndromes with Ring Sideroblasts.0
385179662024SF3B1 mutations provide genetic vulnerability to copper ionophores in human acute myeloid leukemia.0
385210652024Transcription elongation defects link oncogenic SF3B1 mutations to targetable alterations in chromatin landscape.4
386323162024Mutations in the splicing factor SF3B1 are linked to frequent emergence of HLA-DR(low/neg) monocytes in lower-risk myelodysplastic neoplasms.0
364115162023Prognostic correlation of NOTCH1 and SF3B1 mutations with chromosomal abnormalities in chronic lymphocytic leukemia patients.2
369443322023m(6)A-driven SF3B1 translation control steers splicing to direct genome integrity and leukemogenesis.7
370264852023CDK12/13 promote splicing of proximal introns by enhancing the interaction between RNA polymerase II and the splicing factor SF3B1.8
372639512023[Clinical features of SF3B1 mutation in patients with myelodysplastic syndrome with excess blasts].0
374084962023Expression of circular RNAs in myelodysplastic neoplasms and their association with mutations in the splicing factor gene SF3B1.0
375110962023SF3B1 Mutations Are Associated with Resistance to Non-Genotoxic MDM2 Inhibition in Chronic Lymphocytic Leukemia.2
375247902023SF3B1 hotspot mutations confer sensitivity to PARP inhibition by eliciting a defective replication stress response.6

Citation

Dessen P

SF3B1 (splicing factor 3b subunit 1)

Atlas Genet Cytogenet Oncol Haematol. 2012-03-01

Online version: http://atlasgeneticsoncology.org/gene/52653/case-report-explorer/cancer-prone-explorer/js/lib/zoomerang.js