SF3B6 (splicing factor 3b subunit 6)

2014-11-01  

Identity

HGNC
SF3B6
LOCATION
2p23.3
LOCUSID
51639
ALIAS
CGI-110,HSPC175,Ht006,P14,SAP14,SAP14a,SF3B14,SF3B14a
FUSION GENES
Show Gene Fusions

Other Information

Locus ID:

NCBI: 51639
MIM: 607835
HGNC: 30096
Ensembl: ENSG00000115128

Variants:

dbSNP: 51639
ClinVar: 51639
TCGA: ENSG00000115128
COSMIC: SF3B6

RNA/Proteins

Gene IDTranscript IDUniprot
ENSG00000115128ENST00000233468Q9Y3B4

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

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
349545202022SF3B14 is involved in the centrosome regulation through splicing of TUBGCP6 pre-mRNA.1
349545202022SF3B14 is involved in the centrosome regulation through splicing of TUBGCP6 pre-mRNA.1
344706092021The long non-coding RNA DKFZp434J0226 regulates the alternative splicing process through phosphorylation of SF3B6 in PDAC.1
344706092021The long non-coding RNA DKFZp434J0226 regulates the alternative splicing process through phosphorylation of SF3B6 in PDAC.1
267845222016Interaction between the Spliceosomal Pre-mRNA Branch Site and U2 snRNP Protein p14.4
267845222016Interaction between the Spliceosomal Pre-mRNA Branch Site and U2 snRNP Protein p14.4
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.9
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.9
164322152006Crystal structure of a core spliceosomal protein interface.38
164322152006Crystal structure of a core spliceosomal protein interface.38
127388652003Molecular architecture of the multiprotein splicing factor SF3b.105
127388652003Molecular architecture of the multiprotein splicing factor SF3b.105

Citation

Dessen P

SF3B6 (splicing factor 3b subunit 6)

Atlas Genet Cytogenet Oncol Haematol. 2014-11-01

Online version: http://atlasgeneticsoncology.org/gene/73165/sf3b6-(splicing-factor-3b-subunit-6)