AutismKB 2.0

Annotation Detail for AQP4


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Basic Information Top
Gene Symbol:AQP4 ( HMIWC2,MGC22454,MIWC )
Gene Full Name: aquaporin 4
Band: 18q11.2
Quick LinksEntrez ID:361; OMIM: 600308; Uniprot ID:AQP4_HUMAN; ENSEMBL ID: ENSG00000171885; HGNC ID: 637
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 body1 / 7076114
blastocyst0 / 623190 
fetus15 / 56401226
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult66 / 193912134
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 
chondrosarcoma5 / 8282360
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor7 / 26384526
glioma12 / 106883112
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia12 / 97250123
normal190 / 336030756
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 
brain193 / 1100989175
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye7 / 21105433
heart0 / 896260 
intestine1 / 2344724
kidney1 / 2117774
larynx1 / 2414541
liver0 / 2077430 
lung12 / 33697435
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle1 / 1077159
nerve1 / 1576863
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210906_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.5
Adipocyte6.45
AdrenalCortex7.7
Adrenalgland5.85
Amygdala319.65
Appendix7.75
AtrioventricularNode5.95
BDCA4+_DentriticCells6.6
Bonemarrow7.25
BronchialEpithelialCells6.35
CD105+_Endothelial6.5
CD14+_Monocytes6.95
CD19+_BCells(neg._sel.)6.75
CD33+_Myeloid8.3
CD34+7.85
CD4+_Tcells6.8
CD56+_NKCells7.2
CD71+_EarlyErythroid6.4
CD8+_Tcells5.9
CardiacMyocytes10.9
Caudatenucleus88.7
Cerebellum15.5
CerebellumPeduncles8.3
CiliaryGanglion5.55
CingulateCortex7.5
Colorectaladenocarcinoma6.65
DorsalRootGanglion5.75
FetalThyroid6.7
Fetalbrain26.2
Fetalliver5.85
Fetallung43.85
GlobusPallidus40.8
Heart9.95
Hypothalamus167.05
Kidney5.8
Leukemia_chronicMyelogenousK-5625.8
Leukemia_promyelocytic-HL-605.8
Leukemialymphoblastic(MOLT-4)5
Liver9.65
Lung65.3
Lymphnode5.35
Lymphoma_burkitts(Daudi)8.55
Lymphoma_burkitts(Raji)10.1
MedullaOblongata11.1
OccipitalLobe107.35
OlfactoryBulb7.65
Ovary4.65
Pancreas5.45
PancreaticIslet7.15
ParietalLobe30.4
Pituitary7.85
Placenta6.4
Pons17.5
PrefrontalCortex226.05
Prostate7.4
Salivarygland5.6
SkeletalMuscle13.4
Skin5.7
SmoothMuscle7.2
Spinalcord144.35
SubthalamicNucleus7.3
SuperiorCervicalGanglion9.5
TemporalLobe7.15
Testis5.5
TestisGermCell5.15
TestisIntersitial5.8
TestisLeydigCell6.85
TestisSeminiferousTubule5.75
Thalamus8.65
Thymus4.95
Thyroid8.25
Tongue7.1
Tonsil6.65
Trachea5.35
TrigeminalGanglion7.6
Uterus5.1
UterusCorpus6.55
WholeBlood6.9
Wholebrain68.15
colon6.55
pineal_day45.94
pineal_night19.38
retina235.975
small_intestine6.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P107565
  • 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
Amygdala9.68 ± 0.38
Basal Forebrain9.64 ± 0.07
Basal Part of Pons8.34 ± 0.49
Cerebellar Cortex8.63 ± 0.25
Cerebellar Nuclei8.88 ± 1.1
Claustrum8.46 ± 0.59
Epithalamus10.05 ± 0.52
Frontal Lobe9.17 ± 0.56
Globus Pallidus11.26 ± 0.52
Hypothalamus9.81 ± 0.44
Insula9.31 ± 0.25
Limbic Lobe9.08 ± 0.77
Mesencephalon9.5 ± 0.67
Myelencephalon9.35 ± 0.64
Occipital Lobe9.15 ± 0.45
Parietal Lobe9.07 ± 0.62
Pontine Tegmentum9.5 ± 0.45
Striatum10.1 ± 0.54
Subthalamus8.67 ± 0.52
Temporal Lobe9.15 ± 0.46
Thalamus9.63 ± 0.51
White Matter8.4 ± 0.64
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Aqp4CBCerebellum94.88
100
Aqp4CTXCerebral cortex17.1
14.12
Aqp4HIPHippocampal region33.3
34.41
Aqp4HPFHippocampal formation34.37
32.67
Aqp4HYHypothalamus15.97
14.1
Aqp4LSXLateral septal complex14.36
11.42
Aqp4MBMidbrain33.83
39.96
Aqp4MYMedulla59.41
59.12
Aqp4OLFOlfactory bulb59.02
51.32
Aqp4PPons63.31
65.75
Aqp4PALPallidum11.69
10.51
Aqp4RHPRetrohippocampal region33.84
27.61
Aqp4sAMYStriatum-like amygdalar nuclei22.27
21.91
Aqp4STRStriatum13.61
10.81
Aqp4STRdStriatum dorsal region12.23
9.49
Aqp4STRvStriatum ventral region11.08
6.62
Aqp4THThalamus26.11
30.03
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AQP4_HUMAN_262 13 262 274 FKEAFSKAAQQTK 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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