AutismKB 2.0

Annotation Detail for PPWD1


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Basic Information Top
Gene Symbol:PPWD1 ( KIAA0073 )
Gene Full Name: peptidylprolyl isomerase domain and WD repeat containing 1
Band: 5q12.3
Quick LinksEntrez ID:23398; OMIM: NA; Uniprot ID:PPWD1_HUMAN; ENSEMBL ID: ENSG00000113593; HGNC ID: 28954
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 body7 / 7076198
blastocyst5 / 6231980
fetus32 / 56401256
neonate11 / 31097353
infant12 / 23620508
juvenile25 / 55556449
adult133 / 193912168
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor7 / 9417874
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor14 / 17290809
gastrointestinal tumor9 / 11936975
germ cell tumor37 / 263845140
glioma2 / 10688318
head and neck tumor7 / 13630251
kidney tumor9 / 68959130
leukemia6 / 9584262
liver tumor20 / 96359207
lung tumor0 / 1031270 
lymphoma8 / 71755111
non-neoplasia16 / 97250164
normal360 / 3360307107
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS36 / 125680286
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor3 / 12494924
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites6 / 40015149
bladder11 / 29757369
blood32 / 123478259
bone2 / 7165527
bone marrow6 / 48801122
brain160 / 1100989145
cervix4 / 4817183
connective tissue17 / 149255113
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus14 / 20209692
eye7 / 21105433
heart21 / 89626234
intestine20 / 23447285
kidney20 / 21177794
larynx1 / 2414541
liver28 / 207743134
lung17 / 33697450
lymph0 / 442700 
lymph node8 / 9161087
mammary gland9 / 15327158
mouth8 / 67052119
muscle6 / 10771555
nerve2 / 15768126
ovary0 / 1020510 
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx6 / 41328145
pituitary gland2 / 16585120
placenta21 / 28082574
prostate6 / 18934531
salivary gland0 / 201550 
skin11 / 21057452
spleen12 / 53952222
stomach5 / 9661951
testis38 / 330442114
thymus18 / 81131221
thyroid1 / 4747321
tonsil0 / 169990 
trachea17 / 52413324
umbilical cord3 / 13680219
uterus38 / 232878163
vascular13 / 51780251
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213483_at
Cell line Expression level Expression bar
721_B_lymphoblasts77.4
Adipocyte9.1
AdrenalCortex10.35
Adrenalgland8.15
Amygdala11.3
Appendix14.45
AtrioventricularNode9.45
BDCA4+_DentriticCells85.75
Bonemarrow9.95
BronchialEpithelialCells9.15
CD105+_Endothelial45.55
CD14+_Monocytes21.9
CD19+_BCells(neg._sel.)77
CD33+_Myeloid53.3
CD34+90.7
CD4+_Tcells346.85
CD56+_NKCells78.15
CD71+_EarlyErythroid10
CD8+_Tcells360.45
CardiacMyocytes14.1
Caudatenucleus10.2
Cerebellum7.55
CerebellumPeduncles11.3
CiliaryGanglion12.5
CingulateCortex10.1
Colorectaladenocarcinoma10.4
DorsalRootGanglion7.9
FetalThyroid12.85
Fetalbrain15.05
Fetalliver9.05
Fetallung8.75
GlobusPallidus7.3
Heart12.6
Hypothalamus16.75
Kidney8.25
Leukemia_chronicMyelogenousK-56234.85
Leukemia_promyelocytic-HL-6013.55
Leukemialymphoblastic(MOLT-4)15.05
Liver13.25
Lung10.3
Lymphnode31.45
Lymphoma_burkitts(Daudi)26.1
Lymphoma_burkitts(Raji)18.9
MedullaOblongata11.7
OccipitalLobe9.95
OlfactoryBulb11.3
Ovary6.7
Pancreas8.4
PancreaticIslet16.2
ParietalLobe11.6
Pituitary11.65
Placenta9.2
Pons9.75
PrefrontalCortex14.7
Prostate11.2
Salivarygland9.3
SkeletalMuscle13.5
Skin7.85
SmoothMuscle13.4
Spinalcord11.55
SubthalamicNucleus9.5
SuperiorCervicalGanglion13.85
TemporalLobe8.7
Testis8.1
TestisGermCell25.4
TestisIntersitial20.3
TestisLeydigCell11.45
TestisSeminiferousTubule16.05
Thalamus10.55
Thymus6.75
Thyroid15.15
Tongue9.95
Tonsil20.5
Trachea7.75
TrigeminalGanglion12.15
Uterus17.9
UterusCorpus10.4
WholeBlood13
Wholebrain7.1
colon9.85
pineal_day22.42
pineal_night24.3
retina11.725
small_intestine8.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7872_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
Amygdala6.74 ± 0.38
Basal Forebrain6.61 ± 0.19
Basal Part of Pons6.43 ± 0.2
Cerebellar Cortex6.67 ± 0.2
Cerebellar Nuclei6.42 ± 0.37
Claustrum6.51 ± 0.37
Epithalamus6.54 ± 0.22
Frontal Lobe6.37 ± 0.27
Globus Pallidus6.76 ± 0.24
Hypothalamus6.39 ± 0.12
Insula6.45 ± 0.24
Limbic Lobe6.49 ± 0.34
Mesencephalon6.46 ± 0.33
Myelencephalon6.46 ± 0.3
Occipital Lobe6.78 ± 0.3
Parietal Lobe6.51 ± 0.26
Pontine Tegmentum6.51 ± 0.38
Striatum6.52 ± 0.29
Subthalamus6.2 ± 0.23
Temporal Lobe6.42 ± 0.28
Thalamus6.38 ± 0.3
White Matter7.49 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ppwd1CBCerebellum0.37
0.52
Ppwd1CTXCerebral cortex0.73
1.04
Ppwd1HIPHippocampal region0.21
0.35
Ppwd1HPFHippocampal formation0.21
0.3
Ppwd1HYHypothalamus0.17
0.19
Ppwd1LSXLateral septal complex0.23
0.34
Ppwd1MBMidbrain0.18
0.36
Ppwd1MYMedulla0.22
0.12
Ppwd1OLFOlfactory bulb0.35
0.77
Ppwd1PPons0.26
0.25
Ppwd1PALPallidum1.15
1.87
Ppwd1RHPRetrohippocampal region0.23
0.25
Ppwd1sAMYStriatum-like amygdalar nuclei1.11
1.23
Ppwd1STRStriatum0.81
1.16
Ppwd1STRdStriatum dorsal region0.99
1.49
Ppwd1STRvStriatum ventral region0.29
0.44
Ppwd1THThalamus0.31
0.37
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00077405 15 244 258 SGMIEYWTGPPHEYK Peptide Atlas
PPWD1_HUMAN_2 11 2 12 AAESGSDFQQR 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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