AutismKB 2.0

Annotation Detail for JUP


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Basic Information Top
Gene Symbol:JUP ( ARVD12,CTNNG,DP3,DPIII,PDGB,PKGB )
Gene Full Name: junction plakoglobin
Band: 17q21.2
Quick LinksEntrez ID:3728; OMIM: 173325; Uniprot ID:PLAK_HUMAN; ENSEMBL ID: ENSG00000173801; HGNC ID: 6207
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 body30 / 70761423
blastocyst14 / 62319224
fetus18 / 56401231
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult258 / 1939121133
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) tumor26 / 94178276
cervical tumor2 / 3436658
chondrosarcoma5 / 8282360
colorectal tumor36 / 114246315
esophageal tumor4 / 17290231
gastrointestinal tumor24 / 119369201
germ cell tumor39 / 263845147
glioma25 / 106883233
head and neck tumor33 / 136302242
kidney tumor3 / 6895943
leukemia6 / 9584262
liver tumor1 / 9635910
lung tumor11 / 103127106
lymphoma7 / 7175597
non-neoplasia9 / 9725092
normal207 / 336030761
ovarian tumor15 / 76682195
pancreatic tumor75 / 104616716
primitive neuroectodermal tumor of the CNS21 / 125680167
prostate cancer15 / 102680146
retinoblastoma6 / 46356129
skin tumor9 / 12494972
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor17 / 90257188
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites10 / 40015249
bladder10 / 29757336
blood3 / 12347824
bone1 / 7165513
bone marrow1 / 4880120
brain50 / 110098945
cervix8 / 48171166
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue49 / 215722227
esophagus4 / 20209197
eye21 / 21105499
heart3 / 8962633
intestine54 / 234472230
kidney12 / 21177756
larynx14 / 24145579
liver3 / 20774314
lung32 / 33697494
lymph1 / 4427022
lymph node11 / 91610120
mammary gland38 / 153271247
mouth12 / 67052178
muscle2 / 10771518
nerve2 / 15768126
ovary20 / 102051195
pancreas77 / 214812358
parathyroid2 / 2053997
pharynx7 / 41328169
pituitary gland2 / 16585120
placenta37 / 280825131
prostate21 / 189345110
salivary gland0 / 201550 
skin38 / 210574180
spleen0 / 539520 
stomach12 / 96619124
testis3 / 3304429
thymus1 / 8113112
thyroid6 / 47473126
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord0 / 136800 
uterus31 / 232878133
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201015_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts365.15
Adipocyte10.9
AdrenalCortex15.5
Adrenalgland25.75
Amygdala20.25
Appendix18.7
AtrioventricularNode25.8
BDCA4+_DentriticCells74.05
Bonemarrow14.6
BronchialEpithelialCells1086.65
CD105+_Endothelial24.75
CD14+_Monocytes57.4
CD19+_BCells(neg._sel.)97.9
CD33+_Myeloid32.7
CD34+116.05
CD4+_Tcells11.1
CD56+_NKCells18.45
CD71+_EarlyErythroid9.1
CD8+_Tcells8.9
CardiacMyocytes68.05
Caudatenucleus14.95
Cerebellum34.75
CerebellumPeduncles45.85
CiliaryGanglion9.55
CingulateCortex29.85
Colorectaladenocarcinoma249.9
DorsalRootGanglion20
FetalThyroid141.3
Fetalbrain62.85
Fetalliver24.35
Fetallung226.75
GlobusPallidus12.25
Heart549.35
Hypothalamus14.6
Kidney311.7
Leukemia_chronicMyelogenousK-562213.8
Leukemia_promyelocytic-HL-6016.25
Leukemialymphoblastic(MOLT-4)12.95
Liver372.5
Lung290.75
Lymphnode40.05
Lymphoma_burkitts(Daudi)18.85
Lymphoma_burkitts(Raji)39.3
MedullaOblongata17.65
OccipitalLobe18
OlfactoryBulb29.4
Ovary17.2
Pancreas166.1
PancreaticIslet54.8
ParietalLobe17.35
Pituitary75.8
Placenta760.05
Pons14.45
PrefrontalCortex38
Prostate374.45
Salivarygland35
SkeletalMuscle36
Skin227.85
SmoothMuscle83.5
Spinalcord33.4
SubthalamicNucleus18.55
SuperiorCervicalGanglion29.55
TemporalLobe13.5
Testis26.4
TestisGermCell22.8
TestisIntersitial16
TestisLeydigCell25.5
TestisSeminiferousTubule21.2
Thalamus14.7
Thymus91.25
Thyroid939.5
Tongue1788.05
Tonsil507.4
Trachea356.7
TrigeminalGanglion23.1
Uterus54.55
UterusCorpus22.3
WholeBlood20.95
Wholebrain14.8
colon188.25
pineal_day23.58
pineal_night34.5
retina78.425
small_intestine90.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14028_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
Amygdala3.01 ± 0.92
Basal Forebrain2.52 ± 0.37
Basal Part of Pons2.31 ± 0.54
Cerebellar Cortex3.21 ± 0.52
Cerebellar Nuclei2.99 ± 0.76
Claustrum3.24 ± 0.81
Epithalamus2.28 ± 0.68
Frontal Lobe2.56 ± 0.82
Globus Pallidus3.08 ± 0.78
Hypothalamus2.47 ± 0.62
Insula2.69 ± 0.55
Limbic Lobe2.51 ± 0.75
Mesencephalon2.77 ± 0.84
Myelencephalon2.59 ± 0.74
Occipital Lobe2.42 ± 0.78
Parietal Lobe2.28 ± 0.76
Pontine Tegmentum2.64 ± 0.75
Striatum2.48 ± 0.81
Subthalamus2.61 ± 0.72
Temporal Lobe2.46 ± 0.74
Thalamus2.53 ± 0.68
White Matter4.53 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
JupCBCerebellum82.68
82.01
JupCTXCerebral cortex21.97
17.54
JupHIPHippocampal region9.33
9.99
JupHPFHippocampal formation9.57
9.32
JupHYHypothalamus4.53
3.41
JupLSXLateral septal complex3.75
3.81
JupMBMidbrain7.67
6.47
JupMYMedulla17.55
20.45
JupOLFOlfactory bulb41.69
40.73
JupPPons13.81
14.15
JupPALPallidum9.38
7.18
JupRHPRetrohippocampal region9.86
8.32
JupsAMYStriatum-like amygdalar nuclei7.68
6.26
JupSTRStriatum19.01
14.9
JupSTRdStriatum dorsal region21.86
17.53
JupSTRvStriatum ventral region20.22
13.84
JupTHThalamus29.35
25.94
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000341 16 445 460 AGDKDDITEPAVCALR Peptide Atlas
PLAK_HUMAN_149 12 149 160 LLNDEDPVVVTK PRIDE
PLAK_HUMAN_177 14 177 190 ALMGSPQLVAAVVR PRIDE
PLAK_HUMAN_425 18 425 442 TLVTQNSGVEALIHAILR PRIDE
PLAK_HUMAN_505 20 505 524 NLALCPANHAPLQEAAVIPR PRIDE
PLAK_HUMAN_581 20 581 600 LNTIPLFVQLLYSSVENIQR PRIDE
PLAK_HUMAN_601 35 601 635 VAAGVLCELAQDKEAADAIDAEGASAPLMELLHSR 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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