AutismKB 2.0

Annotation Detail for SP3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SP3 ( DKFZp686O1631,SPR2 )
Gene Full Name: Sp3 transcription factor
Band: 2q31.1
Quick LinksEntrez ID:6670; OMIM: 601804; Uniprot ID:SP3_HUMAN; ENSEMBL ID: ENSG00000172845; HGNC ID: 11208
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 body5 / 7076170
blastocyst2 / 6231932
fetus46 / 56401281
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult106 / 193912154
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor6 / 11424652
esophageal tumor1 / 1729057
gastrointestinal tumor7 / 11936958
germ cell tumor9 / 26384534
glioma4 / 10688337
head and neck tumor46 / 136302337
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor2 / 9635920
lung tumor5 / 10312748
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal172 / 336030751
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites1 / 4001524
bladder1 / 2975733
blood3 / 12347824
bone0 / 716550 
bone marrow2 / 4880140
brain38 / 110098934
cervix1 / 4817120
connective tissue1 / 1492556
ear2 / 16212123
embryonic tissue14 / 21572264
esophagus1 / 2020949
eye2 / 2110549
heart3 / 8962633
intestine15 / 23447263
kidney19 / 21177789
larynx3 / 24145124
liver4 / 20774319
lung13 / 33697438
lymph1 / 4427022
lymph node19 / 91610207
mammary gland9 / 15327158
mouth40 / 67052596
muscle7 / 10771564
nerve0 / 157680 
ovary2 / 10205119
pancreas4 / 21481218
parathyroid4 / 20539194
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta10 / 28082535
prostate7 / 18934536
salivary gland1 / 2015549
skin9 / 21057442
spleen0 / 539520 
stomach6 / 9661962
testis18 / 33044254
thymus8 / 8113198
thyroid3 / 4747363
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus6 / 23287825
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213168_at
Cell line Expression level Expression bar
721_B_lymphoblasts434.45
Adipocyte76
AdrenalCortex27.15
Adrenalgland30
Amygdala104.4
Appendix86.5
AtrioventricularNode26.3
BDCA4+_DentriticCells206.3
Bonemarrow40.4
BronchialEpithelialCells109.3
CD105+_Endothelial322.15
CD14+_Monocytes265.55
CD19+_BCells(neg._sel.)165.9
CD33+_Myeloid160.75
CD34+339.8
CD4+_Tcells149.95
CD56+_NKCells186.7
CD71+_EarlyErythroid179.35
CD8+_Tcells248.45
CardiacMyocytes55.75
Caudatenucleus40.85
Cerebellum24.2
CerebellumPeduncles33.05
CiliaryGanglion24.3
CingulateCortex32.2
Colorectaladenocarcinoma99.5
DorsalRootGanglion34.9
FetalThyroid125.6
Fetalbrain120.65
Fetalliver138.85
Fetallung177.55
GlobusPallidus22.35
Heart17.45
Hypothalamus61.5
Kidney22.85
Leukemia_chronicMyelogenousK-56264.3
Leukemia_promyelocytic-HL-6095.3
Leukemialymphoblastic(MOLT-4)211.7
Liver12.9
Lung32.35
Lymphnode252.9
Lymphoma_burkitts(Daudi)169
Lymphoma_burkitts(Raji)54.8
MedullaOblongata53.35
OccipitalLobe37.25
OlfactoryBulb84.05
Ovary37.25
Pancreas130
PancreaticIslet109.25
ParietalLobe31.4
Pituitary108.5
Placenta198.85
Pons32.05
PrefrontalCortex132.4
Prostate116
Salivarygland83.3
SkeletalMuscle35.4
Skin34.2
SmoothMuscle144.05
Spinalcord88.8
SubthalamicNucleus30.5
SuperiorCervicalGanglion46.8
TemporalLobe35.05
Testis32.7
TestisGermCell122.35
TestisIntersitial44.8
TestisLeydigCell53.3
TestisSeminiferousTubule63.65
Thalamus33.45
Thymus79.3
Thyroid397.3
Tongue54.5
Tonsil103.05
Trachea122.05
TrigeminalGanglion42.15
Uterus272.7
UterusCorpus75.85
WholeBlood909.35
Wholebrain43
colon177.7
pineal_day99.1
pineal_night104.36
retina91.45
small_intestine120.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P58283
  • 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
Amygdala5.57 ± 0.42
Basal Forebrain5.42 ± 0.33
Basal Part of Pons5.37 ± 0.35
Cerebellar Cortex5.37 ± 0.37
Cerebellar Nuclei5.49 ± 0.37
Claustrum5.63 ± 0.48
Epithalamus5.3 ± 0.27
Frontal Lobe5.26 ± 0.41
Globus Pallidus5.6 ± 0.48
Hypothalamus5.21 ± 0.43
Insula5.19 ± 0.41
Limbic Lobe5.36 ± 0.42
Mesencephalon5.37 ± 0.39
Myelencephalon5.35 ± 0.41
Occipital Lobe5.53 ± 0.45
Parietal Lobe5.28 ± 0.39
Pontine Tegmentum5.28 ± 0.52
Striatum5.46 ± 0.42
Subthalamus4.97 ± 0.44
Temporal Lobe5.3 ± 0.44
Thalamus5.28 ± 0.38
White Matter5.68 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Sp3CBCerebellum18.17
19.46
Sp3CTXCerebral cortex29.07
22.38
Sp3HIPHippocampal region38.42
60.12
Sp3HPFHippocampal formation31.22
41.54
Sp3HYHypothalamus1.18
0.91
Sp3LSXLateral septal complex7.36
5.91
Sp3MBMidbrain1.26
1.45
Sp3MYMedulla2.04
1.94
Sp3OLFOlfactory bulb38.44
35.69
Sp3PPons1.13
1.27
Sp3PALPallidum3.93
3.73
Sp3RHPRetrohippocampal region19.61
17.29
Sp3sAMYStriatum-like amygdalar nuclei13.36
9.69
Sp3STRStriatum13.63
10.54
Sp3STRdStriatum dorsal region14.03
10.99
Sp3STRvStriatum ventral region14.57
10.57
Sp3THThalamus3.27
3.38
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00080863 16 578 593 VQVVDEEGDQQHQEGK Peptide Atlas

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