AutismKB 2.0

Annotation Detail for PPL


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Basic Information Top
Gene Symbol:PPL ( KIAA0568,MGC134872 )
Gene Full Name: periplakin
Band: 16p13.3
Quick LinksEntrez ID:5493; OMIM: 602871; Uniprot ID:PEPL_HUMAN; ENSEMBL ID: ENSG00000118898; HGNC ID: 9273
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 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult90 / 193912146
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor9 / 9417895
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor2 / 17290115
gastrointestinal tumor3 / 11936925
germ cell tumor4 / 26384515
glioma1 / 1068839
head and neck tumor21 / 136302154
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor11 / 103127106
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal71 / 336030721
ovarian tumor1 / 7668213
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder3 / 29757100
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain14 / 110098912
cervix2 / 4817141
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus2 / 2020998
eye15 / 21105471
heart5 / 8962655
intestine5 / 23447221
kidney1 / 2117774
larynx5 / 24145207
liver2 / 2077439
lung23 / 33697468
lymph0 / 442700 
lymph node0 / 916100 
mammary gland22 / 153271143
mouth7 / 67052104
muscle0 / 1077150 
nerve0 / 157680 
ovary1 / 1020519
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate6 / 18934531
salivary gland0 / 201550 
skin9 / 21057442
spleen0 / 539520 
stomach3 / 9661931
testis4 / 33044212
thymus0 / 811310 
thyroid6 / 47473126
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203407_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.4
Adipocyte104.25
AdrenalCortex4.75
Adrenalgland3.8
Amygdala23.5
Appendix5
AtrioventricularNode3.55
BDCA4+_DentriticCells4.9
Bonemarrow4.45
BronchialEpithelialCells250.15
CD105+_Endothelial4.25
CD14+_Monocytes4.55
CD19+_BCells(neg._sel.)4.7
CD33+_Myeloid5.65
CD34+5.55
CD4+_Tcells4.35
CD56+_NKCells5.25
CD71+_EarlyErythroid4.1
CD8+_Tcells3.85
CardiacMyocytes5.65
Caudatenucleus4.15
Cerebellum3.75
CerebellumPeduncles5.2
CiliaryGanglion3.45
CingulateCortex4.65
Colorectaladenocarcinoma168.05
DorsalRootGanglion3.55
FetalThyroid62.5
Fetalbrain4.55
Fetalliver4.05
Fetallung26.1
GlobusPallidus3.5
Heart5.65
Hypothalamus5.05
Kidney13.95
Leukemia_chronicMyelogenousK-5624.1
Leukemia_promyelocytic-HL-603.95
Leukemialymphoblastic(MOLT-4)3.7
Liver6.95
Lung325.15
Lymphnode3.95
Lymphoma_burkitts(Daudi)5.6
Lymphoma_burkitts(Raji)6.2
MedullaOblongata4.9
OccipitalLobe4.2
OlfactoryBulb3.45
Ovary3.15
Pancreas10.1
PancreaticIslet56.4
ParietalLobe5.1
Pituitary28.55
Placenta86.6
Pons6.45
PrefrontalCortex11.9
Prostate118.15
Salivarygland46
SkeletalMuscle5.55
Skin199.95
SmoothMuscle5.15
Spinalcord4.85
SubthalamicNucleus4.1
SuperiorCervicalGanglion6.2
TemporalLobe4.25
Testis4.05
TestisGermCell3.95
TestisIntersitial3.75
TestisLeydigCell4.4
TestisSeminiferousTubule3.95
Thalamus4.6
Thymus6.25
Thyroid101.6
Tongue1616.2
Tonsil362.5
Trachea129
TrigeminalGanglion4.6
Uterus8.65
UterusCorpus4.4
WholeBlood4.85
Wholebrain16.3
colon4.95
pineal_day12.92
pineal_night21.24
retina8.6
small_intestine4.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1725_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
Amygdala3.42 ± 0.76
Basal Forebrain2.69 ± 0.22
Basal Part of Pons3.16 ± 0.67
Cerebellar Cortex2.95 ± 0.84
Cerebellar Nuclei3.37 ± 0.82
Claustrum3.43 ± 0.71
Epithalamus2.98 ± 0.63
Frontal Lobe2.92 ± 0.76
Globus Pallidus2.48 ± 0.55
Hypothalamus2.8 ± 0.57
Insula3.24 ± 0.67
Limbic Lobe3.34 ± 1.02
Mesencephalon3.18 ± 0.86
Myelencephalon3.04 ± 0.67
Occipital Lobe4.09 ± 0.69
Parietal Lobe3.35 ± 0.75
Pontine Tegmentum3.11 ± 0.88
Striatum2.21 ± 0.76
Subthalamus3.16 ± 0.76
Temporal Lobe3.21 ± 0.76
Thalamus2.88 ± 0.72
White Matter2.65 ± 0.78
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
PplCBCerebellum15.01
17.45
PplCTXCerebral cortex15.55
10.49
PplHIPHippocampal region9.51
9.06
PplHPFHippocampal formation12.11
10.14
PplHYHypothalamus10.93
7.97
PplLSXLateral septal complex6.34
3.97
PplMBMidbrain15.24
13.12
PplMYMedulla25.7
28.96
PplOLFOlfactory bulb17.38
12.19
PplPPons24.24
27.46
PplPALPallidum12.85
11.69
PplRHPRetrohippocampal region16.18
11.56
PplsAMYStriatum-like amygdalar nuclei2.2
1.81
PplSTRStriatum7.81
5.49
PplSTRdStriatum dorsal region7.15
5.33
PplSTRvStriatum ventral region13.67
8.21
PplTHThalamus13.3
10.81
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009711 13 222 234 CTNELYWLDQQAK Peptide Atlas
PEPL_HUMAN_1426 12 1426 1437 LAALEQEEAEAR PRIDE
PEPL_HUMAN_1573 8 1573 1580 QNLQLETR 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