AutismKB 2.0

Annotation Detail for SH2B1


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Basic Information Top
Gene Symbol:SH2B1 ( DKFZp547G1110,FLJ30542,KIAA1299,PSM,SH2B )
Gene Full Name: SH2B adaptor protein 1
Band: 16p11.2
Quick LinksEntrez ID:25970; OMIM: 608937; Uniprot ID:SH2B1_HUMAN; ENSEMBL ID: ENSG00000178188; HGNC ID: 30417
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 body1 / 7076114
blastocyst0 / 623190 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult11 / 19391215
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal18 / 33603075
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain7 / 11009896
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye1 / 2110544
heart1 / 8962611
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver1 / 2077434
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate1 / 1893455
salivary gland1 / 2015549
skin2 / 2105749
spleen0 / 539520 
stomach2 / 9661920
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209322_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts25.3
Adipocyte26.45
AdrenalCortex36.85
Adrenalgland18.8
Amygdala14.5
Appendix23
AtrioventricularNode20.65
BDCA4+_DentriticCells22.1
Bonemarrow18.4
BronchialEpithelialCells13.6
CD105+_Endothelial15.55
CD14+_Monocytes23.55
CD19+_BCells(neg._sel.)26.25
CD33+_Myeloid22.8
CD34+23.25
CD4+_Tcells30.6
CD56+_NKCells24.3
CD71+_EarlyErythroid19.3
CD8+_Tcells23.2
CardiacMyocytes21.1
Caudatenucleus27.5
Cerebellum18.35
CerebellumPeduncles50.2
CiliaryGanglion25.45
CingulateCortex36.1
Colorectaladenocarcinoma21.5
DorsalRootGanglion28.2
FetalThyroid38.7
Fetalbrain23.6
Fetalliver19.6
Fetallung17.9
GlobusPallidus22
Heart32.7
Hypothalamus34.85
Kidney18.85
Leukemia_chronicMyelogenousK-56219.65
Leukemia_promyelocytic-HL-6016.05
Leukemialymphoblastic(MOLT-4)19.45
Liver31
Lung17.9
Lymphnode18.95
Lymphoma_burkitts(Daudi)23.5
Lymphoma_burkitts(Raji)32.85
MedullaOblongata34
OccipitalLobe23.9
OlfactoryBulb23.8
Ovary16.25
Pancreas16.5
PancreaticIslet21
ParietalLobe28.35
Pituitary28.4
Placenta14
Pons59.45
PrefrontalCortex27.8
Prostate19.1
Salivarygland18
SkeletalMuscle36.15
Skin19.75
SmoothMuscle25.7
Spinalcord26.95
SubthalamicNucleus47.75
SuperiorCervicalGanglion26.95
TemporalLobe22.9
Testis12.85
TestisGermCell21.15
TestisIntersitial19.2
TestisLeydigCell23.85
TestisSeminiferousTubule22.65
Thalamus53.4
Thymus15.45
Thyroid27.8
Tongue28.25
Tonsil25.75
Trachea17.85
TrigeminalGanglion25.3
Uterus14.45
UterusCorpus20.75
WholeBlood17.45
Wholebrain18.25
colon15
pineal_day37.24
pineal_night39.24
retina31.675
small_intestine11.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P185029
  • 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
Amygdala5.02 ± 0.7
Basal Forebrain5.13 ± 0.83
Basal Part of Pons5.49 ± 0.58
Cerebellar Cortex5.66 ± 0.4
Cerebellar Nuclei4.76 ± 0.41
Claustrum4.55 ± 0.68
Epithalamus5.21 ± 0.64
Frontal Lobe5.32 ± 0.57
Globus Pallidus4.54 ± 0.4
Hypothalamus5.13 ± 0.42
Insula5.4 ± 0.3
Limbic Lobe5.18 ± 0.6
Mesencephalon5.1 ± 0.52
Myelencephalon5.15 ± 0.59
Occipital Lobe5.02 ± 0.52
Parietal Lobe5.15 ± 0.53
Pontine Tegmentum5 ± 0.52
Striatum4.68 ± 0.49
Subthalamus5.13 ± 0.43
Temporal Lobe5.37 ± 0.5
Thalamus5.22 ± 0.47
White Matter4.66 ± 0.8
Mouse Brain ISH
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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