SF3B3 (splicing factor 3b subunit 3)

2004-11-01  

Identity

HGNC
SF3B3
LOCATION
16q22.1
LOCUSID
23450
ALIAS
RSE1,SAP130,SF3b130,STAF130
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 23450
MIM: 605592
HGNC: 10770
Ensembl: ENSG00000189091

Variants:

dbSNP: 23450
ClinVar: 23450
TCGA: ENSG00000189091
COSMIC: SF3B3

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000189091ENST00000302516Q15393
ENSG00000189091ENST00000566095H3BMB0
ENSG00000189091ENST00000567635J3QKV4
ENSG00000189091ENST00000567654J3QL37
ENSG00000189091ENST00000569687J3QRB2
ENSG00000189091ENST00000577085I3L4G7

Expression (GTEx)

0
10
20
30
40
50
60
70
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

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
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
386714592024SF3B3-regulated mTOR alternative splicing promotes colorectal cancer progression and metastasis.1
386714592024SF3B3-regulated mTOR alternative splicing promotes colorectal cancer progression and metastasis.1
338001282021Ambiguity about Splicing Factor 3b Subunit 3 (SF3B3) and Sin3A Associated Protein 130 (SAP130).2
338001282021Ambiguity about Splicing Factor 3b Subunit 3 (SF3B3) and Sin3A Associated Protein 130 (SAP130).2
315837142020Preliminary exploration of the potential of spliceosome-associated protein 130 for predicting disease severity in Crohn's disease.9
315837142020Preliminary exploration of the potential of spliceosome-associated protein 130 for predicting disease severity in Crohn's disease.9
278793672017Alternative Splicing of EZH2 pre-mRNA by SF3B3 Contributes to the Tumorigenic Potential of Renal Cancer.59
278793672017Alternative Splicing of EZH2 pre-mRNA by SF3B3 Contributes to the Tumorigenic Potential of Renal Cancer.59
254312372015Expression levels of SF3B3 correlate with prognosis and endocrine resistance in estrogen receptor-positive breast cancer.19
254312372015Expression levels of SF3B3 correlate with prognosis and endocrine resistance in estrogen receptor-positive breast cancer.19
256517372014Detection of SF3B3 gene mutations in oral cancer by high resolution melting analysis.2
256517372014Detection of SF3B3 gene mutations in oral cancer by high resolution melting analysis.2
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78
203796142010Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.78

Citation

Dessen P

SF3B3 (splicing factor 3b subunit 3)

Atlas Genet Cytogenet Oncol Haematol. 2004-11-01

Online version: http://atlasgeneticsoncology.org/gene/42950/js/lib/deep-insight-explorer/