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
127388652003Molecular architecture of the multiprotein splicing factor SF3b.74
164322152006Crystal structure of a core spliceosomal protein interface.30
197732792009Association between genetic variants in VEGF, ERCC3 and occupational benzene haematotoxicity.6
267845222016Interaction between the Spliceosomal Pre-mRNA Branch Site and U2 snRNP Protein p14.1

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