AutismKB 2.0

Annotation Detail for PTS


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Basic Information Top
Gene Symbol:PTS ( FLJ97081,PTPS )
Gene Full Name: 6-pyruvoyltetrahydropterin synthase
Band: 11q22.3
Quick LinksEntrez ID:5805; OMIM: 612719; Uniprot ID:PTPS_HUMAN; ENSEMBL ID: ENSG00000150787; HGNC ID: 9689
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 body2 / 7076128
blastocyst0 / 623190 
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult46 / 193912123
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor2 / 2638457
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor4 / 6895958
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal101 / 336030730
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites2 / 4001549
bladder1 / 2975733
blood3 / 12347824
bone0 / 716550 
bone marrow0 / 488010 
brain21 / 110098919
cervix0 / 481710 
connective tissue3 / 14925520
ear1 / 1621261
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye5 / 21105423
heart1 / 8962611
intestine3 / 23447212
kidney17 / 21177780
larynx0 / 241450 
liver4 / 20774319
lung8 / 33697423
lymph0 / 442700 
lymph node2 / 9161021
mammary gland5 / 15327132
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary4 / 10205139
pancreas15 / 21481269
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta8 / 28082528
prostate8 / 18934542
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209694_at
Cell line Expression level Expression bar
721_B_lymphoblasts51.3
Adipocyte39.55
AdrenalCortex123.95
Adrenalgland188.75
Amygdala247.1
Appendix25.6
AtrioventricularNode12.45
BDCA4+_DentriticCells70.5
Bonemarrow22.35
BronchialEpithelialCells356.65
CD105+_Endothelial97.85
CD14+_Monocytes26.1
CD19+_BCells(neg._sel.)95.15
CD33+_Myeloid161
CD34+35.8
CD4+_Tcells19.7
CD56+_NKCells88.3
CD71+_EarlyErythroid79.8
CD8+_Tcells21.55
CardiacMyocytes150.2
Caudatenucleus47.25
Cerebellum58.45
CerebellumPeduncles78.15
CiliaryGanglion18.95
CingulateCortex92.05
Colorectaladenocarcinoma259.05
DorsalRootGanglion16.95
FetalThyroid33.5
Fetalbrain72.2
Fetalliver34.8
Fetallung42.85
GlobusPallidus34.4
Heart46.6
Hypothalamus229.75
Kidney56.9
Leukemia_chronicMyelogenousK-56251.65
Leukemia_promyelocytic-HL-6067.05
Leukemialymphoblastic(MOLT-4)64.2
Liver42.65
Lung31.45
Lymphnode24.75
Lymphoma_burkitts(Daudi)118.85
Lymphoma_burkitts(Raji)67
MedullaOblongata76.4
OccipitalLobe146.85
OlfactoryBulb72.05
Ovary11.45
Pancreas38.75
PancreaticIslet104.95
ParietalLobe63.15
Pituitary152.6
Placenta116.8
Pons41.95
PrefrontalCortex85.6
Prostate91.65
Salivarygland19.05
SkeletalMuscle43.9
Skin20.45
SmoothMuscle182.15
Spinalcord65
SubthalamicNucleus98.6
SuperiorCervicalGanglion30.7
TemporalLobe93.15
Testis28.1
TestisGermCell39.15
TestisIntersitial35.8
TestisLeydigCell29.9
TestisSeminiferousTubule29.05
Thalamus84.1
Thymus23.3
Thyroid112.2
Tongue39.5
Tonsil26.35
Trachea45.35
TrigeminalGanglion34.25
Uterus51.55
UterusCorpus24.8
WholeBlood23.25
Wholebrain279.7
colon54.6
pineal_day223.34
pineal_night232.82
retina53.675
small_intestine57.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16338_PI416261804
  • 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
Amygdala8.66 ± 0.28
Basal Forebrain8.71 ± 0.19
Basal Part of Pons8.81 ± 0.25
Cerebellar Cortex8.84 ± 0.24
Cerebellar Nuclei9.14 ± 0.34
Claustrum8.48 ± 0.56
Epithalamus8.62 ± 0.37
Frontal Lobe8.99 ± 0.29
Globus Pallidus8.7 ± 0.46
Hypothalamus9.55 ± 0.24
Insula9.04 ± 0.31
Limbic Lobe8.62 ± 0.53
Mesencephalon8.86 ± 0.41
Myelencephalon8.73 ± 0.46
Occipital Lobe8.2 ± 0.52
Parietal Lobe8.78 ± 0.35
Pontine Tegmentum8.88 ± 0.46
Striatum8.05 ± 0.37
Subthalamus9.27 ± 0.28
Temporal Lobe8.95 ± 0.31
Thalamus8.58 ± 0.35
White Matter8.85 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PtsCBCerebellum1.27
1.98
PtsCTXCerebral cortex1.02
0.9
PtsHIPHippocampal region0.79
0.74
PtsHPFHippocampal formation1.27
1.13
PtsHYHypothalamus1.5
2.69
PtsLSXLateral septal complex0.26
0.25
PtsMBMidbrain0.64
1.88
PtsMYMedulla1.82
3.73
PtsOLFOlfactory bulb5.75
6.25
PtsPPons1.51
2.39
PtsPALPallidum0.52
0.68
PtsRHPRetrohippocampal region2.63
2.12
PtssAMYStriatum-like amygdalar nuclei1.14
0.95
PtsSTRStriatum0.49
0.57
PtsSTRdStriatum dorsal region0.25
0.21
PtsSTRvStriatum ventral region0.84
1.37
PtsTHThalamus0.36
0.51
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