AutismKB 2.0

Annotation Detail for SF3B3


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Basic Information Top
Gene Symbol:SF3B3 ( KIAA0017,RSE1,SAP130,SF3b130,STAF130 )
Gene Full Name: splicing factor 3b, subunit 3, 130kDa
Band: 16q22.1
Quick LinksEntrez ID:23450; OMIM: 605592; Uniprot ID:SF3B3_HUMAN; ENSEMBL ID: ENSG00000189091; HGNC ID: 10770
Relate to Another Database: SFARIGene; denovo-db
Unigene EST Top
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
embryoid body16 / 70761226
blastocyst23 / 62319369
fetus92 / 564012163
neonate6 / 31097192
infant0 / 236200 
juvenile11 / 55556197
adult329 / 1939121169
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor4 / 12794312
bladder carcinoma2 / 17475114
breast (mammary gland) tumor31 / 94178329
cervical tumor9 / 34366261
chondrosarcoma12 / 82823144
colorectal tumor20 / 114246175
esophageal tumor4 / 17290231
gastrointestinal tumor14 / 119369117
germ cell tumor90 / 263845341
glioma11 / 106883102
head and neck tumor29 / 136302212
kidney tumor13 / 68959188
leukemia18 / 95842187
liver tumor30 / 96359311
lung tumor27 / 103127261
lymphoma19 / 71755264
non-neoplasia7 / 9725071
normal455 / 3360307135
ovarian tumor14 / 76682182
pancreatic tumor16 / 104616152
primitive neuroectodermal tumor of the CNS27 / 125680214
prostate cancer24 / 102680233
retinoblastoma13 / 46356280
skin tumor17 / 124949136
soft tissue/muscle tissue tumor27 / 125191215
uterine tumor15 / 90257166
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland6 / 33197180
ascites7 / 40015174
bladder6 / 29757201
blood16 / 123478129
bone9 / 71655125
bone marrow0 / 488010 
brain198 / 1100989179
cervix9 / 48171186
connective tissue12 / 14925580
ear0 / 162120 
embryonic tissue46 / 215722213
esophagus4 / 20209197
eye29 / 211054137
heart10 / 89626111
intestine45 / 234472191
kidney29 / 211777136
larynx2 / 2414582
liver42 / 207743202
lung59 / 336974175
lymph19 / 44270429
lymph node11 / 91610120
mammary gland38 / 153271247
mouth17 / 67052253
muscle14 / 107715129
nerve3 / 15768190
ovary23 / 102051225
pancreas19 / 21481288
parathyroid2 / 2053997
pharynx9 / 41328217
pituitary gland2 / 16585120
placenta32 / 280825113
prostate30 / 189345158
salivary gland1 / 2015549
skin24 / 210574113
spleen10 / 53952185
stomach4 / 9661941
testis92 / 330442278
thymus23 / 81131283
thyroid6 / 47473126
tonsil2 / 16999117
trachea14 / 52413267
umbilical cord8 / 13680584
uterus43 / 232878184
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200688_at
Cell line Expression level Expression bar
721_B_lymphoblasts26.9
Adipocyte31.15
AdrenalCortex34.35
Adrenalgland27.85
Amygdala31.45
Appendix37.6
AtrioventricularNode39.3
BDCA4+_DentriticCells28.1
Bonemarrow33.9
BronchialEpithelialCells30.5
CD105+_Endothelial31.15
CD14+_Monocytes28.15
CD19+_BCells(neg._sel.)31.35
CD33+_Myeloid31
CD34+32.7
CD4+_Tcells32.9
CD56+_NKCells33
CD71+_EarlyErythroid32.85
CD8+_Tcells27.8
CardiacMyocytes36.45
Caudatenucleus30.35
Cerebellum26.4
CerebellumPeduncles42.4
CiliaryGanglion38.15
CingulateCortex33.95
Colorectaladenocarcinoma30.5
DorsalRootGanglion32.05
FetalThyroid30.7
Fetalbrain31.05
Fetalliver26.25
Fetallung24.45
GlobusPallidus26.55
Heart45.2
Hypothalamus29.9
Kidney29.85
Leukemia_chronicMyelogenousK-56230.5
Leukemia_promyelocytic-HL-6027.35
Leukemialymphoblastic(MOLT-4)26.1
Liver41.8
Lung34.15
Lymphnode27.15
Lymphoma_burkitts(Daudi)47.2
Lymphoma_burkitts(Raji)46.4
MedullaOblongata32.5
OccipitalLobe29.4
OlfactoryBulb24.2
Ovary34.9
Pancreas25.65
PancreaticIslet34.4
ParietalLobe34.4
Pituitary36.8
Placenta21.2
Pons29.75
PrefrontalCortex35.3
Prostate36.05
Salivarygland25.5
SkeletalMuscle54.15
Skin29.65
SmoothMuscle41
Spinalcord31.8
SubthalamicNucleus35
SuperiorCervicalGanglion36.45
TemporalLobe33.3
Testis25.7
TestisGermCell21.7
TestisIntersitial24
TestisLeydigCell30.85
TestisSeminiferousTubule27.35
Thalamus41.65
Thymus23.2
Thyroid36.5
Tongue32.35
Tonsil32.85
Trachea25.4
TrigeminalGanglion46.15
Uterus23.25
UterusCorpus29
WholeBlood27.6
Wholebrain22.8
colon27.5
pineal_day40.18
pineal_night33.16
retina27.175
small_intestine28.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P945396
  • Donor H0351.2001
  • Sex: Male     Age: 24 years     Race/Ethnicity: African American     Handedness: Left
  • Tissue Receipt Date: 7/29/2009     Serology: Pass      Tissue pH :6.72     Additional Medical Information :History of asthma
  • Postmortem Interval: 23 hours (estimated time of death to time that tissue is frozen)
  • Toxicology: Positive for atropine and caffeine, at levels usually not toxicologically significant
Tissue Expression(mean ± stddev) Expression Bar
Amygdala6.64 ± 0.82
Basal Forebrain6.46 ± 0.35
Basal Part of Pons6.73 ± 0.25
Cerebellar Cortex6.92 ± 0.27
Cerebellar Nuclei5.87 ± 0.73
Claustrum6.48 ± 0.41
Epithalamus6.16 ± 0.32
Frontal Lobe6.6 ± 0.42
Globus Pallidus5.45 ± 0.4
Hypothalamus6.57 ± 0.42
Insula7.09 ± 0.44
Limbic Lobe6.84 ± 0.61
Mesencephalon6.37 ± 0.56
Myelencephalon6.4 ± 0.51
Occipital Lobe6.1 ± 0.6
Parietal Lobe6.43 ± 0.43
Pontine Tegmentum6.45 ± 0.53
Striatum6.51 ± 0.57
Subthalamus6.19 ± 0.57
Temporal Lobe6.83 ± 0.42
Thalamus6.17 ± 0.43
White Matter4.78 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sf3b3CBCerebellum14.21
16.78
Sf3b3CTXCerebral cortex34.31
29.04
Sf3b3HIPHippocampal region58.16
96.36
Sf3b3HPFHippocampal formation46.11
66.04
Sf3b3HYHypothalamus3.08
2.88
Sf3b3LSXLateral septal complex0.94
0.79
Sf3b3MBMidbrain5.43
6.43
Sf3b3MYMedulla1.51
2.26
Sf3b3OLFOlfactory bulb17.37
15.17
Sf3b3PPons1.65
2.44
Sf3b3PALPallidum4.73
4.45
Sf3b3RHPRetrohippocampal region24.55
23.13
Sf3b3sAMYStriatum-like amygdalar nuclei21.8
18.71
Sf3b3STRStriatum19.49
15.29
Sf3b3STRdStriatum dorsal region22.84
17.73
Sf3b3STRvStriatum ventral region19
14.85
Sf3b3THThalamus5.25
4.46
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000944 19 981 999 CENKHIANYISGIQTIGHR Peptide Atlas
SF3B3_HUMAN_1 10 1 10 MFLYNLTLQR PRIDE
SF3B3_HUMAN_1150 9 1150 1158 SEHPPLCGR PRIDE
SF3B3_HUMAN_681 10 681 690 PVTGDLSDTR PRIDE
SF3B3_HUMAN_817 16 817 832 QQMAEEMVEAAGEDER PRIDE

Simple Query:


  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018


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