AutismKB 2.0

Annotation Detail for SF3A3


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Basic Information Top
Gene Symbol:SF3A3 ( PRP9,PRPF9,SAP61,SF3a60 )
Gene Full Name: splicing factor 3a, subunit 3, 60kDa
Band: 1p34.3
Quick LinksEntrez ID:10946; OMIM: 605596; Uniprot ID:SF3A3_HUMAN; ENSEMBL ID: ENSG00000183431; HGNC ID: 10767
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 body8 / 70761113
blastocyst4 / 6231964
fetus84 / 564012148
neonate6 / 31097192
infant4 / 23620169
juvenile29 / 55556521
adult273 / 1939121140
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor16 / 94178169
cervical tumor8 / 34366232
chondrosarcoma7 / 8282384
colorectal tumor20 / 114246175
esophageal tumor6 / 17290347
gastrointestinal tumor16 / 119369134
germ cell tumor110 / 263845416
glioma7 / 10688365
head and neck tumor2 / 13630214
kidney tumor4 / 6895958
leukemia25 / 95842260
liver tumor17 / 96359176
lung tumor17 / 103127164
lymphoma27 / 71755376
non-neoplasia16 / 97250164
normal436 / 3360307129
ovarian tumor11 / 76682143
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS49 / 125680389
prostate cancer10 / 10268097
retinoblastoma6 / 46356129
skin tumor20 / 124949160
soft tissue/muscle tissue tumor24 / 125191191
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland8 / 33197240
ascites5 / 40015124
bladder3 / 29757100
blood20 / 123478161
bone8 / 71655111
bone marrow4 / 4880181
brain149 / 1100989135
cervix10 / 48171207
connective tissue25 / 149255167
ear0 / 162120 
embryonic tissue25 / 215722115
esophagus6 / 20209296
eye21 / 21105499
heart13 / 89626145
intestine34 / 234472145
kidney28 / 211777132
larynx2 / 2414582
liver20 / 20774396
lung41 / 336974121
lymph23 / 44270519
lymph node16 / 91610174
mammary gland18 / 153271117
mouth4 / 6705259
muscle10 / 10771592
nerve3 / 15768190
ovary15 / 102051146
pancreas22 / 214812102
parathyroid1 / 2053948
pharynx13 / 41328314
pituitary gland5 / 16585301
placenta34 / 280825121
prostate24 / 189345126
salivary gland1 / 2015549
skin31 / 210574147
spleen16 / 53952296
stomach5 / 9661951
testis78 / 330442236
thymus20 / 81131246
thyroid2 / 4747342
tonsil1 / 1699958
trachea6 / 52413114
umbilical cord2 / 13680146
uterus33 / 232878141
vascular9 / 51780173
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203818_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts191.25
Adipocyte20.9
AdrenalCortex18.65
Adrenalgland24.85
Amygdala27
Appendix21.9
AtrioventricularNode18.35
BDCA4+_DentriticCells93.05
Bonemarrow24.25
BronchialEpithelialCells29.35
CD105+_Endothelial92.7
CD14+_Monocytes90.5
CD19+_BCells(neg._sel.)63.8
CD33+_Myeloid76.25
CD34+188.3
CD4+_Tcells121.85
CD56+_NKCells104
CD71+_EarlyErythroid36.65
CD8+_Tcells120.25
CardiacMyocytes34.15
Caudatenucleus21.8
Cerebellum17.05
CerebellumPeduncles23.4
CiliaryGanglion15.4
CingulateCortex26.25
Colorectaladenocarcinoma26.95
DorsalRootGanglion16.5
FetalThyroid28.1
Fetalbrain22.3
Fetalliver24.5
Fetallung23.9
GlobusPallidus20.45
Heart28
Hypothalamus47.55
Kidney18.65
Leukemia_chronicMyelogenousK-562187.2
Leukemia_promyelocytic-HL-6050.85
Leukemialymphoblastic(MOLT-4)32.6
Liver35.75
Lung25.3
Lymphnode32.3
Lymphoma_burkitts(Daudi)37.2
Lymphoma_burkitts(Raji)31.15
MedullaOblongata16.6
OccipitalLobe21.4
OlfactoryBulb24.45
Ovary20.8
Pancreas17.55
PancreaticIslet34.15
ParietalLobe21.9
Pituitary25.55
Placenta25.4
Pons19.55
PrefrontalCortex35.3
Prostate31.55
Salivarygland17.75
SkeletalMuscle26.8
Skin18.3
SmoothMuscle39.3
Spinalcord25.35
SubthalamicNucleus22.25
SuperiorCervicalGanglion31.15
TemporalLobe16.45
Testis24.5
TestisGermCell21.5
TestisIntersitial19.55
TestisLeydigCell26.5
TestisSeminiferousTubule17.3
Thalamus27.95
Thymus36.95
Thyroid51.8
Tongue42.05
Tonsil43.8
Trachea19.05
TrigeminalGanglion21.7
Uterus25.05
UterusCorpus19.35
WholeBlood48.25
Wholebrain18.5
colon26
pineal_day44.02
pineal_night38.6
retina54.625
small_intestine30.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P63913
  • 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
Amygdala8.13 ± 0.25
Basal Forebrain8.18 ± 0.05
Basal Part of Pons8.53 ± 0.16
Cerebellar Cortex8.31 ± 0.26
Cerebellar Nuclei8.3 ± 0.25
Claustrum8.09 ± 0.32
Epithalamus8.28 ± 0.22
Frontal Lobe8.27 ± 0.27
Globus Pallidus8.01 ± 0.18
Hypothalamus8.18 ± 0.45
Insula8.34 ± 0.17
Limbic Lobe8.08 ± 0.32
Mesencephalon8.2 ± 0.26
Myelencephalon8.18 ± 0.3
Occipital Lobe8.03 ± 0.33
Parietal Lobe8.22 ± 0.26
Pontine Tegmentum8.18 ± 0.2
Striatum8.01 ± 0.23
Subthalamus8.35 ± 0.1
Temporal Lobe8.31 ± 0.24
Thalamus8.28 ± 0.21
White Matter8.09 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sf3a3CBCerebellum66.58
100
Sf3a3CTXCerebral cortex100
100
Sf3a3HIPHippocampal region100
100
Sf3a3HPFHippocampal formation100
100
Sf3a3HYHypothalamus100
100
Sf3a3LSXLateral septal complex100
100
Sf3a3MBMidbrain100
100
Sf3a3MYMedulla88.65
100
Sf3a3OLFOlfactory bulb100
100
Sf3a3PPons77.13
100
Sf3a3PALPallidum95.57
100
Sf3a3RHPRetrohippocampal region100
100
Sf3a3sAMYStriatum-like amygdalar nuclei100
100
Sf3a3STRStriatum100
100
Sf3a3STRdStriatum dorsal region100
100
Sf3a3STRvStriatum ventral region100
100
Sf3a3THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003482 18 98 115 HPNEICVPMSVEFEELLK Peptide Atlas
SF3A3_HUMAN_1 9 1 9 METILEQQR 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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