AutismKB 2.0

Annotation Detail for PDZD4


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Basic Information Top
Gene Symbol:PDZD4 ( FLJ34125,KIAA1444,LU1,PDZK4,PDZRN4L )
Gene Full Name: PDZ domain containing 4
Band: Xq28
Quick LinksEntrez ID:57595; OMIM: 300634; Uniprot ID:PDZD4_HUMAN; ENSEMBL ID: ENSG00000067840; HGNC ID: 21167
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 body2 / 7076128
blastocyst5 / 6231980
fetus38 / 56401267
neonate0 / 310970 
infant5 / 23620211
juvenile1 / 5555617
adult49 / 193912125
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor6 / 26384522
glioma10 / 10688393
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal140 / 336030741
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer2 / 10268019
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 tissue2 / 13106152
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain114 / 1100989103
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye12 / 21105456
heart0 / 896260 
intestine2 / 2344728
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth0 / 670520 
muscle0 / 1077150 
nerve3 / 15768190
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus0 / 2328780 
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_8461_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
Amygdala8.28 ± 0.59
Basal Forebrain7.44 ± 0.15
Basal Part of Pons7.79 ± 0.29
Cerebellar Cortex7.18 ± 0.33
Cerebellar Nuclei6.69 ± 0.42
Claustrum8.49 ± 0.66
Epithalamus6.95 ± 0.33
Frontal Lobe7.23 ± 0.58
Globus Pallidus6.13 ± 0.5
Hypothalamus6.76 ± 0.5
Insula7.48 ± 0.61
Limbic Lobe7.93 ± 0.69
Mesencephalon7.15 ± 0.58
Myelencephalon7.47 ± 0.56
Occipital Lobe7.94 ± 0.73
Parietal Lobe7.59 ± 0.63
Pontine Tegmentum7.19 ± 0.62
Striatum8.16 ± 0.51
Subthalamus6.74 ± 0.6
Temporal Lobe7.55 ± 0.55
Thalamus6.99 ± 0.51
White Matter5.72 ± 0.61
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pdzd4CBCerebellum25.45
68.62
Pdzd4CTXCerebral cortex100
100
Pdzd4HIPHippocampal region95.77
100
Pdzd4HPFHippocampal formation77.65
100
Pdzd4HYHypothalamus100
100
Pdzd4LSXLateral septal complex100
100
Pdzd4MBMidbrain22.49
27.31
Pdzd4MYMedulla0.86
1.69
Pdzd4OLFOlfactory bulb80.28
100
Pdzd4PPons5.88
9.23
Pdzd4PALPallidum97.37
100
Pdzd4RHPRetrohippocampal region48.12
70.13
Pdzd4sAMYStriatum-like amygdalar nuclei87.4
97.22
Pdzd4STRStriatum100
100
Pdzd4STRdStriatum dorsal region100
100
Pdzd4STRvStriatum ventral region100
100
Pdzd4THThalamus86.58
91.01
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