AutismKB 2.0

Annotation Detail for PPPDE1


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Basic Information Top
Gene Symbol:PPPDE1 ( C1orf121,FAM152A,FLJ21998,PNAS-4 )
Gene Full Name: PPPDE peptidase domain containing 1
Band: 1q44
Quick LinksEntrez ID:51029; OMIM: NA; Uniprot ID:PPDE1_HUMAN; ENSEMBL ID: ENSG00000121644; HGNC ID:
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 body9 / 70761127
blastocyst9 / 62319144
fetus44 / 56401278
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult101 / 193912152
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) tumor7 / 9417874
cervical tumor0 / 343660 
chondrosarcoma10 / 82823120
colorectal tumor13 / 114246113
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor9 / 26384534
glioma1 / 1068839
head and neck tumor1 / 1363027
kidney tumor6 / 6895987
leukemia4 / 9584241
liver tumor5 / 9635951
lung tumor4 / 10312738
lymphoma8 / 71755111
non-neoplasia0 / 972500 
normal231 / 336030768
ovarian tumor16 / 76682208
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma3 / 4635664
skin tumor11 / 12494988
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites4 / 4001599
bladder6 / 29757201
blood3 / 12347824
bone8 / 71655111
bone marrow0 / 488010 
brain13 / 110098911
cervix2 / 4817141
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue23 / 215722106
esophagus0 / 202090 
eye16 / 21105475
heart16 / 89626178
intestine26 / 234472110
kidney11 / 21177751
larynx1 / 2414541
liver10 / 20774348
lung31 / 33697491
lymph3 / 4427067
lymph node29 / 91610316
mammary gland11 / 15327171
mouth0 / 670520 
muscle0 / 1077150 
nerve1 / 1576863
ovary15 / 102051146
pancreas9 / 21481241
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta17 / 28082560
prostate4 / 18934521
salivary gland1 / 2015549
skin21 / 21057499
spleen0 / 539520 
stomach2 / 9661920
testis52 / 330442157
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus14 / 23287860
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219875_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.85
Adipocyte8.25
AdrenalCortex12.15
Adrenalgland7.8
Amygdala8.4
Appendix11.8
AtrioventricularNode8.65
BDCA4+_DentriticCells8.1
Bonemarrow10.1
BronchialEpithelialCells8.15
CD105+_Endothelial8.35
CD14+_Monocytes9.1
CD19+_BCells(neg._sel.)8.75
CD33+_Myeloid10.45
CD34+10.15
CD4+_Tcells8.25
CD56+_NKCells9.6
CD71+_EarlyErythroid8.3
CD8+_Tcells7.25
CardiacMyocytes15.15
Caudatenucleus7.7
Cerebellum7.1
CerebellumPeduncles10.8
CiliaryGanglion7.7
CingulateCortex9.2
Colorectaladenocarcinoma8.45
DorsalRootGanglion7.8
FetalThyroid9
Fetalbrain8.1
Fetalliver7.75
Fetallung6.35
GlobusPallidus7.2
Heart16.45
Hypothalamus8.75
Kidney8.25
Leukemia_chronicMyelogenousK-5627.65
Leukemia_promyelocytic-HL-607.5
Leukemialymphoblastic(MOLT-4)6.3
Liver14.4
Lung9.35
Lymphnode6.65
Lymphoma_burkitts(Daudi)11.45
Lymphoma_burkitts(Raji)13.55
MedullaOblongata7.6
OccipitalLobe7.55
OlfactoryBulb6.5
Ovary7.55
Pancreas7.3
PancreaticIslet9.35
ParietalLobe10.1
Pituitary10
Placenta8.4
Pons8.6
PrefrontalCortex10.05
Prostate9.4
Salivarygland7.3
SkeletalMuscle13.95
Skin8.05
SmoothMuscle9.5
Spinalcord9.15
SubthalamicNucleus8.55
SuperiorCervicalGanglion13.5
TemporalLobe8.25
Testis7.35
TestisGermCell6.85
TestisIntersitial7.65
TestisLeydigCell9.35
TestisSeminiferousTubule7.3
Thalamus9.05
Thymus6.3
Thyroid9.8
Tongue9.75
Tonsil8.55
Trachea7.1
TrigeminalGanglion12
Uterus6.55
UterusCorpus9.05
WholeBlood9.05
Wholebrain6.7
colon8.35
pineal_day10.12
pineal_night9.9
retina10.1
small_intestine8.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P422204
  • 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
Amygdala4.24 ± 0.48
Basal Forebrain4.15 ± 0.31
Basal Part of Pons3.97 ± 0.36
Cerebellar Cortex4.64 ± 0.31
Cerebellar Nuclei4.08 ± 0.61
Claustrum4.1 ± 0.74
Epithalamus4.47 ± 0.53
Frontal Lobe3.91 ± 0.65
Globus Pallidus3.69 ± 0.96
Hypothalamus4.25 ± 0.32
Insula4.24 ± 0.47
Limbic Lobe4.09 ± 0.75
Mesencephalon4.22 ± 0.7
Myelencephalon4.09 ± 0.64
Occipital Lobe4.41 ± 0.55
Parietal Lobe4.03 ± 0.6
Pontine Tegmentum4.05 ± 0.65
Striatum4.48 ± 0.66
Subthalamus4.29 ± 0.45
Temporal Lobe4.05 ± 0.61
Thalamus3.89 ± 0.62
White Matter3.8 ± 0.8
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
5830417C01RikCBCerebellum7.66
8.35
5830417C01RikCTXCerebral cortex6.79
4.88
5830417C01RikHIPHippocampal region10.6
9.78
5830417C01RikHPFHippocampal formation8.44
7.47
5830417C01RikHYHypothalamus0.52
0.37
5830417C01RikLSXLateral septal complex1.25
0.74
5830417C01RikMBMidbrain2.52
2.73
5830417C01RikMYMedulla6.09
6.19
5830417C01RikOLFOlfactory bulb6.62
5.18
5830417C01RikPPons3.31
3.8
5830417C01RikPALPallidum2.7
2.08
5830417C01RikRHPRetrohippocampal region4.6
3.92
5830417C01RiksAMYStriatum-like amygdalar nuclei4.78
3.1
5830417C01RikSTRStriatum3.92
2.88
5830417C01RikSTRdStriatum dorsal region4.09
3.25
5830417C01RikSTRvStriatum ventral region4.68
2.78
5830417C01RikTHThalamus2.53
3.75
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00096575 16 107 122 NCNHFSSALSEILCGK Peptide Atlas

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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