AutismKB 2.0

Annotation Detail for PPCS


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Basic Information Top
Gene Symbol:PPCS ( FLJ11838,MGC117357,MGC138220 )
Gene Full Name: phosphopantothenoylcysteine synthetase
Band: 1p34.2
Quick LinksEntrez ID:79717; OMIM: 609853; Uniprot ID:PPCS_HUMAN; ENSEMBL ID: ENSG00000127125; HGNC ID: 25686
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 body4 / 7076156
blastocyst2 / 6231932
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult93 / 193912147
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma10 / 17475572
breast (mammary gland) tumor11 / 94178116
cervical tumor3 / 3436687
chondrosarcoma6 / 8282372
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor12 / 119369100
germ cell tumor12 / 26384545
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia6 / 9584262
liver tumor4 / 9635941
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal109 / 336030732
ovarian tumor5 / 7668265
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer6 / 10268058
retinoblastoma1 / 4635621
skin tumor4 / 12494932
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites5 / 40015124
bladder7 / 29757235
blood6 / 12347848
bone5 / 7165569
bone marrow1 / 4880120
brain25 / 110098922
cervix3 / 4817162
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus1 / 2020949
eye7 / 21105433
heart1 / 8962611
intestine13 / 23447255
kidney9 / 21177742
larynx0 / 241450 
liver8 / 20774338
lung12 / 33697435
lymph0 / 442700 
lymph node5 / 9161054
mammary gland15 / 15327197
mouth1 / 6705214
muscle2 / 10771518
nerve0 / 157680 
ovary7 / 10205168
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta16 / 28082556
prostate10 / 18934552
salivary gland1 / 2015549
skin5 / 21057423
spleen1 / 5395218
stomach6 / 9661962
testis6 / 33044218
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus8 / 23287834
vascular1 / 5178019
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218341_at
Cell line Expression level Expression bar
721_B_lymphoblasts57.75
Adipocyte18.1
AdrenalCortex16.35
Adrenalgland14.15
Amygdala14.55
Appendix10.9
AtrioventricularNode8.05
BDCA4+_DentriticCells45.15
Bonemarrow10.15
BronchialEpithelialCells42.1
CD105+_Endothelial21.5
CD14+_Monocytes120.15
CD19+_BCells(neg._sel.)126.6
CD33+_Myeloid57.2
CD34+69.15
CD4+_Tcells63.5
CD56+_NKCells97.2
CD71+_EarlyErythroid13.55
CD8+_Tcells52.6
CardiacMyocytes19.9
Caudatenucleus9.2
Cerebellum6.8
CerebellumPeduncles10.4
CiliaryGanglion8.75
CingulateCortex11.15
Colorectaladenocarcinoma30.05
DorsalRootGanglion8.05
FetalThyroid15.05
Fetalbrain9.2
Fetalliver12
Fetallung10.15
GlobusPallidus10.65
Heart11.7
Hypothalamus15.2
Kidney15.9
Leukemia_chronicMyelogenousK-5628.9
Leukemia_promyelocytic-HL-6012.4
Leukemialymphoblastic(MOLT-4)9.05
Liver19.7
Lung22.15
Lymphnode18.7
Lymphoma_burkitts(Daudi)18.75
Lymphoma_burkitts(Raji)24.3
MedullaOblongata8.75
OccipitalLobe11.8
OlfactoryBulb10.4
Ovary11
Pancreas23.85
PancreaticIslet26.7
ParietalLobe9
Pituitary16.4
Placenta18.8
Pons9.05
PrefrontalCortex13.6
Prostate63.75
Salivarygland12.1
SkeletalMuscle10
Skin9.05
SmoothMuscle21.8
Spinalcord16.5
SubthalamicNucleus11
SuperiorCervicalGanglion11.45
TemporalLobe9.4
Testis7.65
TestisGermCell10.35
TestisIntersitial7.8
TestisLeydigCell8.9
TestisSeminiferousTubule9.1
Thalamus14.6
Thymus10.9
Thyroid107.6
Tongue11.5
Tonsil14.05
Trachea12.35
TrigeminalGanglion8.8
Uterus11.3
UterusCorpus7.45
WholeBlood44.4
Wholebrain13.7
colon57.95
pineal_day33.4
pineal_night32.7
retina25.95
small_intestine48.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P51627
  • 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
Amygdala8.69 ± 0.35
Basal Forebrain8.82 ± 0.12
Basal Part of Pons8.91 ± 0.33
Cerebellar Cortex8.58 ± 0.25
Cerebellar Nuclei9.07 ± 0.16
Claustrum8.49 ± 0.52
Epithalamus9.1 ± 0.26
Frontal Lobe8.96 ± 0.31
Globus Pallidus9.29 ± 0.33
Hypothalamus9.09 ± 0.2
Insula9.08 ± 0.27
Limbic Lobe8.68 ± 0.54
Mesencephalon8.79 ± 0.37
Myelencephalon8.81 ± 0.4
Occipital Lobe8.32 ± 0.4
Parietal Lobe8.8 ± 0.36
Pontine Tegmentum8.85 ± 0.37
Striatum8.78 ± 0.34
Subthalamus9 ± 0.2
Temporal Lobe8.97 ± 0.33
Thalamus8.72 ± 0.31
White Matter8.46 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PpcsCBCerebellum10.54
10.99
PpcsCTXCerebral cortex12.15
8.27
PpcsHIPHippocampal region8.21
7.43
PpcsHPFHippocampal formation13.41
10.68
PpcsHYHypothalamus9.88
7.44
PpcsLSXLateral septal complex1.79
1.43
PpcsMBMidbrain9.99
9.56
PpcsMYMedulla27.77
31.61
PpcsOLFOlfactory bulb23.87
17.26
PpcsPPons27.21
29.55
PpcsPALPallidum11.25
9.59
PpcsRHPRetrohippocampal region26.7
18.24
PpcssAMYStriatum-like amygdalar nuclei15.43
9.86
PpcsSTRStriatum8.82
6.06
PpcsSTRdStriatum dorsal region6.39
4.56
PpcsSTRvStriatum ventral region14.88
9.41
PpcsTHThalamus5.64
4.17
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00163726 10 37 46 VVLVTSGGTK Peptide Atlas
PPCS_HUMAN_2 17 2 18 AEMDPVAEFPQPPGAAR PRIDE
PPCS_HUMAN_263 24 263 286 QSFVFIVTKDSETKLLLSEEEIEK 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