AutismKB 2.0

Annotation Detail for JPH3


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Basic Information Top
Gene Symbol:JPH3 ( CAGL237,FLJ44707,HDL2,JP-3,JP3,TNRC22 )
Gene Full Name: junctophilin 3
Band: 16q24.2
Quick LinksEntrez ID:57338; OMIM: 605268; Uniprot ID:JPH3_HUMAN; ENSEMBL ID: ENSG00000154118; HGNC ID: 14203
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 body0 / 707610 
blastocyst0 / 623190 
fetus1 / 5640121
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult0 / 19391210 
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal3 / 33603070 
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain2 / 11009891
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220188_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.15
Adipocyte5.4
AdrenalCortex6.35
Adrenalgland4.75
Amygdala18.95
Appendix6.05
AtrioventricularNode4.75
BDCA4+_DentriticCells5.65
Bonemarrow5.45
BronchialEpithelialCells5.3
CD105+_Endothelial5.5
CD14+_Monocytes5.85
CD19+_BCells(neg._sel.)5.7
CD33+_Myeloid6.85
CD34+6.95
CD4+_Tcells5.75
CD56+_NKCells6.3
CD71+_EarlyErythroid5.2
CD8+_Tcells5.05
CardiacMyocytes12.7
Caudatenucleus5.45
Cerebellum6
CerebellumPeduncles8.75
CiliaryGanglion4.25
CingulateCortex8.1
Colorectaladenocarcinoma5.6
DorsalRootGanglion4.5
FetalThyroid5.4
Fetalbrain6.6
Fetalliver4.85
Fetallung4.3
GlobusPallidus4.85
Heart7.9
Hypothalamus5.9
Kidney4.55
Leukemia_chronicMyelogenousK-5625
Leukemia_promyelocytic-HL-604.9
Leukemialymphoblastic(MOLT-4)4.3
Liver7.55
Lung6
Lymphnode4.35
Lymphoma_burkitts(Daudi)7.2
Lymphoma_burkitts(Raji)8.4
MedullaOblongata5.1
OccipitalLobe4.95
OlfactoryBulb4.3
Ovary3.9
Pancreas4.55
PancreaticIslet5.95
ParietalLobe7.35
Pituitary6.45
Placenta5.4
Pons5.4
PrefrontalCortex9.45
Prostate6.1
Salivarygland5.25
SkeletalMuscle7.25
Skin4.65
SmoothMuscle6.2
Spinalcord5.9
SubthalamicNucleus5.9
SuperiorCervicalGanglion6.9
TemporalLobe5.6
Testis4.7
TestisGermCell4.25
TestisIntersitial4.6
TestisLeydigCell5.55
TestisSeminiferousTubule4.7
Thalamus5.6
Thymus4.2
Thyroid6.4
Tongue5.75
Tonsil5.4
Trachea4.6
TrigeminalGanglion5.7
Uterus4.4
UterusCorpus5.1
WholeBlood6
Wholebrain14.35
colon5.6
pineal_day7.06
pineal_night6.96
retina6.625
small_intestine5.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14207_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
Amygdala11.17 ± 0.5
Basal Forebrain10.52 ± 0.35
Basal Part of Pons11 ± 0.25
Cerebellar Cortex10.32 ± 0.25
Cerebellar Nuclei9.76 ± 0.75
Claustrum11.18 ± 0.47
Epithalamus9.4 ± 0.64
Frontal Lobe10.55 ± 0.54
Globus Pallidus9.54 ± 0.76
Hypothalamus10.26 ± 0.7
Insula10.69 ± 0.52
Limbic Lobe11.27 ± 0.48
Mesencephalon10.46 ± 0.62
Myelencephalon10.7 ± 0.61
Occipital Lobe11.33 ± 0.49
Parietal Lobe10.79 ± 0.51
Pontine Tegmentum10.56 ± 0.46
Striatum11.41 ± 0.41
Subthalamus10.37 ± 0.24
Temporal Lobe10.8 ± 0.43
Thalamus10.57 ± 0.36
White Matter8.37 ± 0.68
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Jph3CBCerebellum23.67
26.25
Jph3CTXCerebral cortex100
89.21
Jph3HIPHippocampal region57.8
100
Jph3HPFHippocampal formation63.85
86.33
Jph3HYHypothalamus14.74
11.92
Jph3LSXLateral septal complex20.82
15.81
Jph3MBMidbrain38.41
36.19
Jph3MYMedulla37.26
43.35
Jph3OLFOlfactory bulb58.04
54.21
Jph3PPons33.68
38.59
Jph3PALPallidum21.89
19.31
Jph3RHPRetrohippocampal region71.24
71.56
Jph3sAMYStriatum-like amygdalar nuclei21.43
15.69
Jph3STRStriatum62.42
47.46
Jph3STRdStriatum dorsal region76.17
58.8
Jph3STRvStriatum ventral region52.82
38.3
Jph3THThalamus26.78
22.36
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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