AutismKB 2.0

Annotation Detail for JPH4


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Basic Information Top
Gene Symbol:JPH4 ( FLJ34253,JP4,JPHL1,KIAA1831 )
Gene Full Name: junctophilin 4
Band: 14q11.2
Quick LinksEntrez ID:84502; OMIM: NA; Uniprot ID:JPH4_HUMAN; ENSEMBL ID: ENSG00000092051; HGNC ID: 20156
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
blastocyst3 / 6231948
fetus31 / 56401254
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult22 / 193912111
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 tumor1 / 2638453
glioma18 / 106883168
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal168 / 336030749
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
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 
brain173 / 1100989157
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye11 / 21105452
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung8 / 33697423
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland4 / 16585241
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach0 / 966190 
testis0 / 3304420 
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1165_PI416573500
  • 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
Amygdala4.71 ± 0.48
Basal Forebrain4.29 ± 0.27
Basal Part of Pons4.4 ± 0.38
Cerebellar Cortex4.81 ± 0.39
Cerebellar Nuclei4.26 ± 0.51
Claustrum4.84 ± 0.63
Epithalamus3.92 ± 0.38
Frontal Lobe4.44 ± 0.48
Globus Pallidus3.42 ± 0.53
Hypothalamus4.2 ± 0.39
Insula4.47 ± 0.34
Limbic Lobe4.64 ± 0.46
Mesencephalon4.5 ± 0.66
Myelencephalon4.48 ± 0.5
Occipital Lobe4.32 ± 0.38
Parietal Lobe4.43 ± 0.56
Pontine Tegmentum4.4 ± 0.48
Striatum4.44 ± 0.32
Subthalamus4.18 ± 0.33
Temporal Lobe4.62 ± 0.4
Thalamus4.26 ± 0.56
White Matter3.3 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Jph4CBCerebellum100
100
Jph4CTXCerebral cortex100
100
Jph4HIPHippocampal region100
100
Jph4HPFHippocampal formation100
100
Jph4HYHypothalamus100
71.03
Jph4LSXLateral septal complex100
100
Jph4MBMidbrain100
67.36
Jph4MYMedulla71
46.24
Jph4OLFOlfactory bulb100
100
Jph4PPons80.64
50.17
Jph4PALPallidum100
71.25
Jph4RHPRetrohippocampal region100
100
Jph4sAMYStriatum-like amygdalar nuclei100
100
Jph4STRStriatum100
100
Jph4STRdStriatum dorsal region100
100
Jph4STRvStriatum ventral region100
100
Jph4THThalamus100
59.7
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