AutismKB 2.0

Annotation Detail for PJA2


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Basic Information Top
Gene Symbol:PJA2 ( KIAA0438,Neurodap1,RNF131 )
Gene Full Name: praja ring finger 2
Band: 5q21.3
Quick LinksEntrez ID:9867; OMIM: NA; Uniprot ID:PJA2_HUMAN; ENSEMBL ID: ENSG00000198961; HGNC ID: 17481
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 body12 / 70761169
blastocyst3 / 6231948
fetus32 / 56401256
neonate4 / 31097128
infant0 / 236200 
juvenile7 / 55556125
adult118 / 193912160
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) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma7 / 8282384
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor14 / 26384553
glioma6 / 10688356
head and neck tumor11 / 13630280
kidney tumor6 / 6895987
leukemia4 / 9584241
liver tumor8 / 9635983
lung tumor3 / 10312729
lymphoma1 / 7175513
non-neoplasia6 / 9725061
normal263 / 336030778
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor8 / 12494964
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland7 / 33197210
ascites0 / 400150 
bladder1 / 2975733
blood4 / 12347832
bone3 / 7165541
bone marrow8 / 48801163
brain147 / 1100989133
cervix2 / 4817141
connective tissue6 / 14925540
ear2 / 16212123
embryonic tissue23 / 215722106
esophagus0 / 202090 
eye11 / 21105452
heart9 / 89626100
intestine9 / 23447238
kidney12 / 21177756
larynx2 / 2414582
liver17 / 20774381
lung17 / 33697450
lymph1 / 4427022
lymph node8 / 9161087
mammary gland7 / 15327145
mouth4 / 6705259
muscle4 / 10771537
nerve4 / 15768253
ovary2 / 10205119
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx5 / 41328120
pituitary gland2 / 16585120
placenta20 / 28082571
prostate13 / 18934568
salivary gland3 / 20155148
skin8 / 21057437
spleen0 / 539520 
stomach10 / 96619103
testis27 / 33044281
thymus4 / 8113149
thyroid5 / 47473105
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord3 / 13680219
uterus14 / 23287860
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201133_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts210.55
Adipocyte34
AdrenalCortex31.85
Adrenalgland40.6
Amygdala949.9
Appendix48.65
AtrioventricularNode18.45
BDCA4+_DentriticCells242.15
Bonemarrow23.05
BronchialEpithelialCells49.4
CD105+_Endothelial102.9
CD14+_Monocytes325.65
CD19+_BCells(neg._sel.)223
CD33+_Myeloid266.85
CD34+173.8
CD4+_Tcells289.45
CD56+_NKCells407.75
CD71+_EarlyErythroid37.7
CD8+_Tcells267.35
CardiacMyocytes31.95
Caudatenucleus261.35
Cerebellum62.4
CerebellumPeduncles78.1
CiliaryGanglion60.3
CingulateCortex291.1
Colorectaladenocarcinoma21.7
DorsalRootGanglion31.7
FetalThyroid94.65
Fetalbrain451.25
Fetalliver99.25
Fetallung79.15
GlobusPallidus284.5
Heart13.55
Hypothalamus513.4
Kidney24.15
Leukemia_chronicMyelogenousK-56266.75
Leukemia_promyelocytic-HL-6022.3
Leukemialymphoblastic(MOLT-4)24
Liver17.7
Lung15.35
Lymphnode64.75
Lymphoma_burkitts(Daudi)16.4
Lymphoma_burkitts(Raji)23.1
MedullaOblongata259.7
OccipitalLobe613.35
OlfactoryBulb128.85
Ovary42.75
Pancreas22.55
PancreaticIslet124.2
ParietalLobe359.55
Pituitary432.95
Placenta31.8
Pons174.15
PrefrontalCortex913.65
Prostate118.85
Salivarygland71.25
SkeletalMuscle14.95
Skin13.8
SmoothMuscle97.7
Spinalcord159.65
SubthalamicNucleus338
SuperiorCervicalGanglion29.05
TemporalLobe236.95
Testis17.9
TestisGermCell58.4
TestisIntersitial27.2
TestisLeydigCell31.65
TestisSeminiferousTubule27.2
Thalamus227.1
Thymus51.4
Thyroid310
Tongue17.95
Tonsil30.9
Trachea132.8
TrigeminalGanglion22.5
Uterus203.6
UterusCorpus27.45
WholeBlood227.5
Wholebrain239.75
colon160.45
pineal_day651.1
pineal_night752.06
retina135.475
small_intestine100.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13359_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
Amygdala9.04 ± 0.33
Basal Forebrain9.07 ± 0.32
Basal Part of Pons9.51 ± 0.16
Cerebellar Cortex8.84 ± 0.21
Cerebellar Nuclei9.13 ± 0.36
Claustrum9.04 ± 0.44
Epithalamus8.84 ± 0.4
Frontal Lobe9.18 ± 0.33
Globus Pallidus8.46 ± 0.51
Hypothalamus9.36 ± 0.24
Insula9.12 ± 0.24
Limbic Lobe9.17 ± 0.46
Mesencephalon9.02 ± 0.39
Myelencephalon9.05 ± 0.43
Occipital Lobe9.05 ± 0.46
Parietal Lobe9.24 ± 0.44
Pontine Tegmentum9.09 ± 0.32
Striatum8.95 ± 0.44
Subthalamus9.38 ± 0.33
Temporal Lobe9.18 ± 0.33
Thalamus9.04 ± 0.26
White Matter8.83 ± 0.21
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pja2CBCerebellum95.7
100
Pja2CTXCerebral cortex100
100
Pja2HIPHippocampal region100
100
Pja2HPFHippocampal formation100
100
Pja2HYHypothalamus100
100
Pja2LSXLateral septal complex100
100
Pja2MBMidbrain100
100
Pja2MYMedulla95.74
100
Pja2OLFOlfactory bulb100
100
Pja2PPons87.65
100
Pja2PALPallidum100
100
Pja2RHPRetrohippocampal region100
100
Pja2sAMYStriatum-like amygdalar nuclei100
100
Pja2STRStriatum100
100
Pja2STRdStriatum dorsal region100
100
Pja2STRvStriatum ventral region100
100
Pja2THThalamus100
100
Peptide Top

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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