AutismKB 2.0

Annotation Detail for PTPN12


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Basic Information Top
Gene Symbol:PTPN12 ( PTP-PEST,PTPG1 )
Gene Full Name: protein tyrosine phosphatase, non-receptor type 12
Band: 7q11.23
Quick LinksEntrez ID:5782; OMIM: 600079; Uniprot ID:PTN12_HUMAN; ENSEMBL ID: ENSG00000127947; HGNC ID: 9645
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 body10 / 70761141
blastocyst6 / 6231996
fetus22 / 56401239
neonate2 / 3109764
infant0 / 236200 
juvenile7 / 55556125
adult138 / 193912171
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) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma10 / 82823120
colorectal tumor7 / 11424661
esophageal tumor2 / 17290115
gastrointestinal tumor9 / 11936975
germ cell tumor20 / 26384575
glioma2 / 10688318
head and neck tumor7 / 13630251
kidney tumor3 / 6895943
leukemia6 / 9584262
liver tumor13 / 96359134
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia8 / 9725082
normal165 / 336030749
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer6 / 10268058
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites0 / 400150 
bladder2 / 2975767
blood5 / 12347840
bone10 / 71655139
bone marrow2 / 4880140
brain32 / 110098929
cervix1 / 4817120
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue24 / 215722111
esophagus2 / 2020998
eye6 / 21105428
heart3 / 8962633
intestine8 / 23447234
kidney8 / 21177737
larynx0 / 241450 
liver15 / 20774372
lung26 / 33697477
lymph0 / 442700 
lymph node5 / 9161054
mammary gland12 / 15327178
mouth8 / 67052119
muscle6 / 10771555
nerve5 / 15768317
ovary4 / 10205139
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta19 / 28082567
prostate7 / 18934536
salivary gland1 / 2015549
skin7 / 21057433
spleen3 / 5395255
stomach6 / 9661962
testis22 / 33044266
thymus7 / 8113186
thyroid1 / 4747321
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus19 / 23287881
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 216915_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.65
Adipocyte13.45
AdrenalCortex25.6
Adrenalgland12.6
Amygdala11.95
Appendix24.95
AtrioventricularNode27.25
BDCA4+_DentriticCells12.65
Bonemarrow17.4
BronchialEpithelialCells13.35
CD105+_Endothelial13.55
CD14+_Monocytes23.2
CD19+_BCells(neg._sel.)14.1
CD33+_Myeloid18.8
CD34+16.15
CD4+_Tcells12.6
CD56+_NKCells104.55
CD71+_EarlyErythroid13.65
CD8+_Tcells11.55
CardiacMyocytes30.25
Caudatenucleus12.25
Cerebellum11.5
CerebellumPeduncles21.7
CiliaryGanglion22.25
CingulateCortex15.05
Colorectaladenocarcinoma12.6
DorsalRootGanglion18.35
FetalThyroid18.05
Fetalbrain12.8
Fetalliver12.3
Fetallung9.95
GlobusPallidus13.2
Heart30.65
Hypothalamus12.3
Kidney12.95
Leukemia_chronicMyelogenousK-56212.15
Leukemia_promyelocytic-HL-6012.25
Leukemialymphoblastic(MOLT-4)10.2
Liver24.6
Lung15.1
Lymphnode10.75
Lymphoma_burkitts(Daudi)18.5
Lymphoma_burkitts(Raji)22.65
MedullaOblongata13.4
OccipitalLobe12.25
OlfactoryBulb10.4
Ovary12.6
Pancreas12.45
PancreaticIslet15.05
ParietalLobe16.45
Pituitary15.9
Placenta13
Pons15.65
PrefrontalCortex15.1
Prostate15.4
Salivarygland13.85
SkeletalMuscle33.85
Skin19.1
SmoothMuscle17.15
Spinalcord14.5
SubthalamicNucleus16.5
SuperiorCervicalGanglion36.1
TemporalLobe20.35
Testis10.85
TestisGermCell10.45
TestisIntersitial13.25
TestisLeydigCell24.85
TestisSeminiferousTubule11.75
Thalamus14.65
Thymus9.85
Thyroid15.2
Tongue18.2
Tonsil13.95
Trachea11.45
TrigeminalGanglion40.6
Uterus10.45
UterusCorpus18.15
WholeBlood54.65
Wholebrain10.8
colon13.85
pineal_day16.34
pineal_night16.42
retina17.15
small_intestine13.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P8763
  • 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
Amygdala8.54 ± 0.4
Basal Forebrain8.79 ± 0.17
Basal Part of Pons8.64 ± 0.14
Cerebellar Cortex9.01 ± 0.19
Cerebellar Nuclei9.03 ± 0.27
Claustrum8.29 ± 0.4
Epithalamus8.73 ± 0.4
Frontal Lobe8.88 ± 0.23
Globus Pallidus9.1 ± 0.18
Hypothalamus9.17 ± 0.31
Insula8.87 ± 0.27
Limbic Lobe8.71 ± 0.26
Mesencephalon8.86 ± 0.31
Myelencephalon8.78 ± 0.32
Occipital Lobe8.89 ± 0.22
Parietal Lobe8.87 ± 0.29
Pontine Tegmentum8.87 ± 0.28
Striatum8.62 ± 0.29
Subthalamus9.14 ± 0.08
Temporal Lobe8.71 ± 0.34
Thalamus8.73 ± 0.3
White Matter9.06 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ptpn12CBCerebellum0
0
Ptpn12CTXCerebral cortex0
0
Ptpn12HIPHippocampal region0
0
Ptpn12HPFHippocampal formation0
0
Ptpn12HYHypothalamus0
0
Ptpn12LSXLateral septal complex0
0
Ptpn12MBMidbrain0
0
Ptpn12MYMedulla0
0
Ptpn12OLFOlfactory bulb0
0
Ptpn12PPons0
0
Ptpn12PALPallidum0
0
Ptpn12RHPRetrohippocampal region0
0
Ptpn12sAMYStriatum-like amygdalar nuclei0
0
Ptpn12STRStriatum0
0
Ptpn12STRdStriatum dorsal region0
0
Ptpn12STRvStriatum ventral region0
0
Ptpn12THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00038335 16 681 696 TPESFVLASEHNTPVR Peptide Atlas
PTN12_HUMAN_1 8 1 8 MEQVEILR PRIDE
PTN12_HUMAN_252 18 252 269 AGKIPEEFNVFNLIQEMR 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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