AutismKB 2.0

Annotation Detail for PTPN11


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Basic Information Top
Gene Symbol:PTPN11 ( BPTP3,CFC,MGC14433,NS1,PTP-1D,PTP2C,SH-PTP2,SH-PTP3,SHP2 )
Gene Full Name: protein tyrosine phosphatase, non-receptor type 11
Band: 12q24.13
Quick LinksEntrez ID:5781; OMIM: 176876; Uniprot ID:PTN11_HUMAN; ENSEMBL ID: ENSG00000179295; HGNC ID: 9644
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 body11 / 70761155
blastocyst8 / 62319128
fetus41 / 56401272
neonate2 / 3109764
infant1 / 2362042
juvenile2 / 5555635
adult105 / 193912154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212610_at
Cell line Expression level Expression bar
721_B_lymphoblasts694
Adipocyte368.55
AdrenalCortex51.9
Adrenalgland120.75
Amygdala671.9
Appendix96.4
AtrioventricularNode38.4
BDCA4+_DentriticCells342.75
Bonemarrow41.4
BronchialEpithelialCells386.25
CD105+_Endothelial601.65
CD14+_Monocytes135.05
CD19+_BCells(neg._sel.)251.1
CD33+_Myeloid356.75
CD34+749.55
CD4+_Tcells250.05
CD56+_NKCells558
CD71+_EarlyErythroid217
CD8+_Tcells296.8
CardiacMyocytes142.3
Caudatenucleus399.05
Cerebellum163.6
CerebellumPeduncles222.1
CiliaryGanglion31.5
CingulateCortex276.55
Colorectaladenocarcinoma227.8
DorsalRootGanglion36.95
FetalThyroid110
Fetalbrain346.25
Fetalliver124.45
Fetallung154.65
GlobusPallidus177
Heart24.25
Hypothalamus762.25
Kidney25.6
Leukemia_chronicMyelogenousK-562198
Leukemia_promyelocytic-HL-60228.6
Leukemialymphoblastic(MOLT-4)209.75
Liver27.7
Lung63.95
Lymphnode128.9
Lymphoma_burkitts(Daudi)250.15
Lymphoma_burkitts(Raji)307.25
MedullaOblongata345.65
OccipitalLobe384.55
OlfactoryBulb178.05
Ovary37.95
Pancreas168.95
PancreaticIslet142.25
ParietalLobe312.7
Pituitary234.25
Placenta135.4
Pons232.95
PrefrontalCortex856.8
Prostate207.4
Salivarygland68.3
SkeletalMuscle32.5
Skin32.7
SmoothMuscle324.3
Spinalcord457.2
SubthalamicNucleus293.5
SuperiorCervicalGanglion29.1
TemporalLobe213.55
Testis15.05
TestisGermCell101.95
TestisIntersitial27.95
TestisLeydigCell24
TestisSeminiferousTubule27.2
Thalamus326.5
Thymus90.4
Thyroid385.35
Tongue42.6
Tonsil67.65
Trachea131.2
TrigeminalGanglion39.75
Uterus347.25
UterusCorpus51.15
WholeBlood173.35
Wholebrain325.8
colon396.8
pineal_day717.5
pineal_night645.16
retina469.75
small_intestine255.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P105436
  • 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
Amygdala9.22 ± 0.23
Basal Forebrain9.38 ± 0.25
Basal Part of Pons8.77 ± 0.19
Cerebellar Cortex8.85 ± 0.23
Cerebellar Nuclei9.31 ± 0.26
Claustrum9.55 ± 0.33
Epithalamus9.63 ± 0.49
Frontal Lobe9.16 ± 0.31
Globus Pallidus9.75 ± 0.13
Hypothalamus9.22 ± 0.41
Insula9.04 ± 0.27
Limbic Lobe9.12 ± 0.34
Mesencephalon9.41 ± 0.29
Myelencephalon9.21 ± 0.37
Occipital Lobe9.28 ± 0.26
Parietal Lobe9.23 ± 0.35
Pontine Tegmentum9.29 ± 0.32
Striatum9.72 ± 0.3
Subthalamus9.46 ± 0.12
Temporal Lobe9.1 ± 0.3
Thalamus9.19 ± 0.24
White Matter9.92 ± 0.32
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00067151 12 187 198 FDSLTDLVEHYK Peptide Atlas
PTN11_HUMAN_174 13 174 186 CQELKYDVGGGER PRIDE
PTN11_HUMAN_199 15 199 213 KNPMVETLGTVLQLK PRIDE
PTN11_HUMAN_271 8 271 278 QENKNKNR PRIDE
PTN11_HUMAN_33 14 33 46 PSKSNPGDFTLSVR PRIDE
PTN11_HUMAN_70 19 70 88 FATLAELVQYYMEHHGQLK 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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