AutismKB 2.0

Annotation Detail for PKP3


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:PKP3 ( - )
Gene Full Name: plakophilin 3
Band: 11p15.5
Quick LinksEntrez ID:11187; OMIM: 605561; Uniprot ID:PKP3_HUMAN; ENSEMBL ID: ENSG00000184363; HGNC ID: 9025
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 body3 / 7076142
blastocyst0 / 623190 
fetus13 / 56401223
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult87 / 193912144
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor12 / 119369100
germ cell tumor9 / 26384534
glioma8 / 10688374
head and neck tumor30 / 136302220
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal100 / 336030729
ovarian tumor9 / 76682117
pancreatic tumor23 / 104616219
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites5 / 40015124
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain8 / 11009897
cervix5 / 48171103
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye1 / 2110544
heart5 / 8962655
intestine39 / 234472166
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung9 / 33697426
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth33 / 67052492
muscle0 / 1077150 
nerve0 / 157680 
ovary9 / 10205188
pancreas30 / 214812139
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta31 / 280825110
prostate14 / 18934573
salivary gland0 / 201550 
skin25 / 210574118
spleen0 / 539520 
stomach13 / 96619134
testis0 / 3304420 
thymus5 / 8113161
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209872_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.9
Adipocyte3.85
AdrenalCortex4.2
Adrenalgland3.3
Amygdala4.2
Appendix4.1
AtrioventricularNode3.05
BDCA4+_DentriticCells4.3
Bonemarrow3.95
BronchialEpithelialCells12.8
CD105+_Endothelial4
CD14+_Monocytes4.2
CD19+_BCells(neg._sel.)4.2
CD33+_Myeloid5
CD34+5
CD4+_Tcells4.35
CD56+_NKCells4.65
CD71+_EarlyErythroid3.65
CD8+_Tcells3.8
CardiacMyocytes5.2
Caudatenucleus3.55
Cerebellum3.25
CerebellumPeduncles4.5
CiliaryGanglion2.75
CingulateCortex4.05
Colorectaladenocarcinoma19.9
DorsalRootGanglion3
FetalThyroid3.85
Fetalbrain4
Fetalliver3.4
Fetallung3.2
GlobusPallidus2.85
Heart18.7
Hypothalamus4.3
Kidney4.05
Leukemia_chronicMyelogenousK-5623.6
Leukemia_promyelocytic-HL-603.5
Leukemialymphoblastic(MOLT-4)3.15
Liver10.7
Lung4.7
Lymphnode3.35
Lymphoma_burkitts(Daudi)5
Lymphoma_burkitts(Raji)5.55
MedullaOblongata3.65
OccipitalLobe3.55
OlfactoryBulb3.1
Ovary2.6
Pancreas7.2
PancreaticIslet4.25
ParietalLobe4.25
Pituitary4.65
Placenta18.25
Pons3.75
PrefrontalCortex4.95
Prostate4.7
Salivarygland3.2
SkeletalMuscle5
Skin3
SmoothMuscle4.55
Spinalcord4.25
SubthalamicNucleus3.55
SuperiorCervicalGanglion4.5
TemporalLobe3.55
Testis3.45
TestisGermCell3.3
TestisIntersitial3.25
TestisLeydigCell3.85
TestisSeminiferousTubule3.4
Thalamus4
Thymus3.2
Thyroid5.2
Tongue21.1
Tonsil3.85
Trachea3.35
TrigeminalGanglion3.95
Uterus3.3
UterusCorpus4.45
WholeBlood4.3
Wholebrain3.5
colon4.05
pineal_day4.9
pineal_night4.82
retina4.825
small_intestine3.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9452_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
Amygdala2.65 ± 1.05
Basal Forebrain2.18 ± 0.37
Basal Part of Pons2.3 ± 0.55
Cerebellar Cortex2.16 ± 0.81
Cerebellar Nuclei2.58 ± 0.69
Claustrum2.91 ± 0.9
Epithalamus2.08 ± 0.92
Frontal Lobe2.37 ± 0.78
Globus Pallidus2.11 ± 0.54
Hypothalamus2.28 ± 0.55
Insula2.35 ± 0.52
Limbic Lobe2.25 ± 0.73
Mesencephalon2.46 ± 0.73
Myelencephalon2.3 ± 0.71
Occipital Lobe1.95 ± 0.65
Parietal Lobe2.39 ± 0.81
Pontine Tegmentum2.4 ± 0.73
Striatum2.04 ± 0.74
Subthalamus2.27 ± 0.75
Temporal Lobe2.38 ± 0.69
Thalamus2.32 ± 0.67
White Matter2.35 ± 0.7
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pkp3CBCerebellum13.47
17.48
Pkp3CTXCerebral cortex0.29
0.26
Pkp3HIPHippocampal region0.23
0.21
Pkp3HPFHippocampal formation0.17
0.17
Pkp3HYHypothalamus0.77
2.4
Pkp3LSXLateral septal complex0
0
Pkp3MBMidbrain0.07
0.09
Pkp3MYMedulla0.65
0.63
Pkp3OLFOlfactory bulb0.22
0.53
Pkp3PPons0.21
0.24
Pkp3PALPallidum0.14
0.12
Pkp3RHPRetrohippocampal region0.07
0.08
Pkp3sAMYStriatum-like amygdalar nuclei0.1
0.05
Pkp3STRStriatum0.11
0.07
Pkp3STRdStriatum dorsal region0.04
0.04
Pkp3STRvStriatum ventral region0.34
0.18
Pkp3THThalamus0.09
0.07
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009765 8 347 354 CYSDAAAK Peptide Atlas
PKP3_HUMAN_695 42 695 736 VVSHLIEKLPGSVGEKSPPAEVLVNIIAVLNNLVVASPIAAR PRIDE
PKP3_HUMAN_711 26 711 736 SPPAEVLVNIIAVLNNLVVASPIAAR 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