AutismKB 2.0

Annotation Detail for SPEG


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Basic Information Top
Gene Symbol:SPEG ( APEG1,BPEG,KIAA1297,MGC12676,SPEGalpha,SPEGbeta )
Gene Full Name: SPEG complex locus
Band: 2q35
Quick LinksEntrez ID:10290; OMIM: NA; Uniprot ID:SPEG_HUMAN; ENSEMBL ID: ENSG00000072195; HGNC ID: 16901
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
blastocyst3 / 6231948
fetus22 / 56401239
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult44 / 193912122
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma4 / 10688337
head and neck tumor7 / 13630251
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal123 / 336030736
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain65 / 110098959
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye4 / 21105418
heart1 / 8962611
intestine1 / 2344724
kidney1 / 2117774
larynx1 / 2414541
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth4 / 6705259
muscle9 / 10771583
nerve2 / 15768126
ovary1 / 1020519
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta0 / 2808250 
prostate11 / 18934558
salivary gland1 / 2015549
skin2 / 2105749
spleen0 / 539520 
stomach2 / 9661920
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus33 / 232878141
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205265_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.4
Adipocyte6
AdrenalCortex6.6
Adrenalgland5.15
Amygdala7.05
Appendix6.25
AtrioventricularNode4.55
BDCA4+_DentriticCells6.25
Bonemarrow6.05
BronchialEpithelialCells6
CD105+_Endothelial6.15
CD14+_Monocytes6.3
CD19+_BCells(neg._sel.)6.65
CD33+_Myeloid8.35
CD34+7.9
CD4+_Tcells6.9
CD56+_NKCells7.2
CD71+_EarlyErythroid5.6
CD8+_Tcells6.15
CardiacMyocytes8.5
Caudatenucleus7.25
Cerebellum6.2
CerebellumPeduncles7.85
CiliaryGanglion4.7
CingulateCortex9.6
Colorectaladenocarcinoma6.2
DorsalRootGanglion4.7
FetalThyroid6.1
Fetalbrain12
Fetalliver5.3
Fetallung5.1
GlobusPallidus5.45
Heart11.25
Hypothalamus7.15
Kidney4.9
Leukemia_chronicMyelogenousK-5625.55
Leukemia_promyelocytic-HL-605.35
Leukemialymphoblastic(MOLT-4)4.9
Liver8.1
Lung6.85
Lymphnode5.3
Lymphoma_burkitts(Daudi)7.85
Lymphoma_burkitts(Raji)8.45
MedullaOblongata5.75
OccipitalLobe8.45
OlfactoryBulb4.85
Ovary5.3
Pancreas5.95
PancreaticIslet6.6
ParietalLobe6.8
Pituitary11.7
Placenta6.15
Pons5.85
PrefrontalCortex7.9
Prostate9.85
Salivarygland4.95
SkeletalMuscle7.2
Skin4.7
SmoothMuscle7
Spinalcord6.9
SubthalamicNucleus5.9
SuperiorCervicalGanglion6.9
TemporalLobe6.45
Testis5.25
TestisGermCell5.15
TestisIntersitial5.15
TestisLeydigCell6.05
TestisSeminiferousTubule5.25
Thalamus6.25
Thymus4.6
Thyroid7.7
Tongue6.1
Tonsil5.95
Trachea5.05
TrigeminalGanglion6.15
Uterus73
UterusCorpus5.9
WholeBlood6.5
Wholebrain8
colon6.15
pineal_day7.38
pineal_night7.38
retina7.45
small_intestine5.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_792_PI416573500
  • 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
Amygdala5.11 ± 0.5
Basal Forebrain4.65 ± 0.32
Basal Part of Pons4.93 ± 0.41
Cerebellar Cortex4.46 ± 0.31
Cerebellar Nuclei4.73 ± 0.43
Claustrum5.32 ± 0.66
Epithalamus4.16 ± 0.39
Frontal Lobe4.68 ± 0.46
Globus Pallidus4.95 ± 0.49
Hypothalamus4.29 ± 0.71
Insula4.63 ± 0.6
Limbic Lobe4.96 ± 0.54
Mesencephalon4.67 ± 0.55
Myelencephalon4.82 ± 0.52
Occipital Lobe4.93 ± 0.44
Parietal Lobe4.81 ± 0.59
Pontine Tegmentum4.67 ± 0.51
Striatum5.32 ± 0.44
Subthalamus4.72 ± 0.26
Temporal Lobe4.72 ± 0.47
Thalamus4.69 ± 0.43
White Matter4.93 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
SpegCBCerebellum0.68
0.88
SpegCTXCerebral cortex27.34
18.07
SpegHIPHippocampal region18.67
17.44
SpegHPFHippocampal formation19.18
15.61
SpegHYHypothalamus0.99
0.6
SpegLSXLateral septal complex3.84
2.45
SpegMBMidbrain2
1.55
SpegMYMedulla3.2
3.07
SpegOLFOlfactory bulb22.65
15.43
SpegPPons3.11
2.63
SpegPALPallidum3.21
2.2
SpegRHPRetrohippocampal region20.66
13.47
SpegsAMYStriatum-like amygdalar nuclei5.94
3.45
SpegSTRStriatum31.43
19.88
SpegSTRdStriatum dorsal region39.28
25.08
SpegSTRvStriatum ventral region27.41
16.87
SpegTHThalamus2.21
1.83
Peptide Top

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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