AutismKB 2.0

Annotation Detail for PDZRN4


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Basic Information Top
Gene Symbol:PDZRN4 ( LNX4,SAMCAP3L )
Gene Full Name: PDZ domain containing ring finger 4
Band: 12q12
Quick LinksEntrez ID:29951; OMIM: 609730; Uniprot ID:PZRN4_HUMAN; ENSEMBL ID: ENSG00000165966; HGNC ID: 30552
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 
blastocyst1 / 6231916
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult8 / 19391214
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal31 / 33603079
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
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 
brain27 / 110098924
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve2 / 15768126
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid1 / 4747321
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: 220595_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.55
Adipocyte5.6
AdrenalCortex6.55
Adrenalgland4.95
Amygdala5.9
Appendix7.75
AtrioventricularNode8.1
BDCA4+_DentriticCells5.7
Bonemarrow5.85
BronchialEpithelialCells5.5
CD105+_Endothelial5.65
CD14+_Monocytes6.55
CD19+_BCells(neg._sel.)5.85
CD33+_Myeloid7.2
CD34+6.9
CD4+_Tcells5.85
CD56+_NKCells6.4
CD71+_EarlyErythroid5.45
CD8+_Tcells5.25
CardiacMyocytes8.1
Caudatenucleus5.15
Cerebellum4.7
CerebellumPeduncles6.8
CiliaryGanglion4.75
CingulateCortex5.95
Colorectaladenocarcinoma5.8
DorsalRootGanglion4.85
FetalThyroid5.85
Fetalbrain6.8
Fetalliver5
Fetallung4.4
GlobusPallidus4.5
Heart8.05
Hypothalamus6.2
Kidney4.9
Leukemia_chronicMyelogenousK-5625.15
Leukemia_promyelocytic-HL-605.05
Leukemialymphoblastic(MOLT-4)4.35
Liver8.15
Lung6.25
Lymphnode4.8
Lymphoma_burkitts(Daudi)7.35
Lymphoma_burkitts(Raji)8.2
MedullaOblongata5.3
OccipitalLobe5.2
OlfactoryBulb4.5
Ovary4.45
Pancreas4.75
PancreaticIslet6.1
ParietalLobe6.3
Pituitary6.6
Placenta5.65
Pons5.85
PrefrontalCortex7.25
Prostate7.1
Salivarygland4.7
SkeletalMuscle7.25
Skin4.95
SmoothMuscle6.45
Spinalcord6.15
SubthalamicNucleus5.3
SuperiorCervicalGanglion7.55
TemporalLobe5.5
Testis4.9
TestisGermCell5.95
TestisIntersitial5.45
TestisLeydigCell6.15
TestisSeminiferousTubule4.85
Thalamus5.9
Thymus4.3
Thyroid7.25
Tongue6
Tonsil5.65
Trachea4.8
TrigeminalGanglion9.55
Uterus4.7
UterusCorpus5.85
WholeBlood6.2
Wholebrain4.6
colon10.35
pineal_day7.06
pineal_night6.94
retina6.95
small_intestine5.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P415154
  • 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
Amygdala6.09 ± 0.41
Basal Forebrain5.84 ± 0.41
Basal Part of Pons5.08 ± 0.23
Cerebellar Cortex5.09 ± 0.48
Cerebellar Nuclei4.73 ± 0.51
Claustrum7.08 ± 0.47
Epithalamus6.06 ± 0.58
Frontal Lobe5.9 ± 0.66
Globus Pallidus5.59 ± 0.54
Hypothalamus5.98 ± 0.51
Insula5.91 ± 0.34
Limbic Lobe5.68 ± 0.67
Mesencephalon5.88 ± 0.76
Myelencephalon5.66 ± 0.72
Occipital Lobe5.82 ± 0.47
Parietal Lobe5.63 ± 0.68
Pontine Tegmentum5.85 ± 0.62
Striatum5.12 ± 0.89
Subthalamus4.55 ± 0.37
Temporal Lobe5.7 ± 0.47
Thalamus5.49 ± 0.51
White Matter5.2 ± 0.92
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pdzrn4CBCerebellum17.54
22.57
Pdzrn4CTXCerebral cortex36.59
28.2
Pdzrn4HIPHippocampal region18.01
19.27
Pdzrn4HPFHippocampal formation20.41
19.41
Pdzrn4HYHypothalamus17.78
16.72
Pdzrn4LSXLateral septal complex7.74
5.62
Pdzrn4MBMidbrain10.51
10.23
Pdzrn4MYMedulla8.59
9.85
Pdzrn4OLFOlfactory bulb38.89
33.59
Pdzrn4PPons7.5
8.47
Pdzrn4PALPallidum21.8
23.15
Pdzrn4RHPRetrohippocampal region24.75
19.88
Pdzrn4sAMYStriatum-like amygdalar nuclei26.78
19.49
Pdzrn4STRStriatum17.27
13.91
Pdzrn4STRdStriatum dorsal region13.97
10.95
Pdzrn4STRvStriatum ventral region29.13
24.64
Pdzrn4THThalamus13.78
12.8
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PZRN4_HUMAN_72 7 72 78 SLIQKLR 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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