AutismKB 2.0

Annotation Detail for AQR


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Basic Information Top
Gene Symbol:AQR ( DKFZp686B23123,IBP160,KIAA0560,fSAP164 )
Gene Full Name: aquarius homolog (mouse)
Band: 15q14
Quick LinksEntrez ID:9716; OMIM: 610548; Uniprot ID:AQR_HUMAN; ENSEMBL ID: ENSG00000021776; HGNC ID: 29513
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 body6 / 7076184
blastocyst8 / 62319128
fetus22 / 56401239
neonate1 / 3109732
infant2 / 2362084
juvenile1 / 5555617
adult90 / 193912146
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor3 / 9417831
cervical tumor4 / 34366116
chondrosarcoma2 / 8282324
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor19 / 26384572
glioma3 / 10688328
head and neck tumor5 / 13630236
kidney tumor0 / 689590 
leukemia7 / 9584273
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma6 / 7175583
non-neoplasia1 / 9725010
normal156 / 336030746
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor6 / 12494948
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder2 / 2975767
blood5 / 12347840
bone3 / 7165541
bone marrow1 / 4880120
brain31 / 110098928
cervix4 / 4817183
connective tissue3 / 14925520
ear2 / 16212123
embryonic tissue18 / 21572283
esophagus0 / 202090 
eye3 / 21105414
heart3 / 8962633
intestine8 / 23447234
kidney4 / 21177718
larynx0 / 241450 
liver3 / 20774314
lung7 / 33697420
lymph1 / 4427022
lymph node8 / 9161087
mammary gland11 / 15327171
mouth5 / 6705274
muscle6 / 10771555
nerve0 / 157680 
ovary2 / 10205119
pancreas7 / 21481232
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland8 / 16585482
placenta16 / 28082556
prostate5 / 18934526
salivary gland0 / 201550 
skin31 / 210574147
spleen0 / 539520 
stomach1 / 9661910
testis30 / 33044290
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord0 / 136800 
uterus12 / 23287851
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212584_at
Cell line Expression level Expression bar
721_B_lymphoblasts265.8
Adipocyte12.15
AdrenalCortex11.15
Adrenalgland10
Amygdala10.3
Appendix10.35
AtrioventricularNode10.6
BDCA4+_DentriticCells110.8
Bonemarrow10.45
BronchialEpithelialCells41.95
CD105+_Endothelial62.15
CD14+_Monocytes65.65
CD19+_BCells(neg._sel.)38.3
CD33+_Myeloid116.1
CD34+116.8
CD4+_Tcells245.45
CD56+_NKCells96
CD71+_EarlyErythroid11.15
CD8+_Tcells173.65
CardiacMyocytes14.75
Caudatenucleus9.5
Cerebellum8.55
CerebellumPeduncles15.75
CiliaryGanglion7.45
CingulateCortex11.75
Colorectaladenocarcinoma12.5
DorsalRootGanglion9.15
FetalThyroid24.5
Fetalbrain11.85
Fetalliver12.65
Fetallung18.95
GlobusPallidus7.1
Heart13.15
Hypothalamus11.55
Kidney8.4
Leukemia_chronicMyelogenousK-56224.2
Leukemia_promyelocytic-HL-6016.15
Leukemialymphoblastic(MOLT-4)59.7
Liver13.2
Lung11.35
Lymphnode32.8
Lymphoma_burkitts(Daudi)15.25
Lymphoma_burkitts(Raji)14.75
MedullaOblongata16.8
OccipitalLobe11.85
OlfactoryBulb9.7
Ovary9.1
Pancreas8.4
PancreaticIslet19.65
ParietalLobe10.75
Pituitary15.1
Placenta12.7
Pons16.6
PrefrontalCortex20.6
Prostate16
Salivarygland10.75
SkeletalMuscle16.85
Skin12.2
SmoothMuscle29.55
Spinalcord12.9
SubthalamicNucleus11.5
SuperiorCervicalGanglion11.2
TemporalLobe9.4
Testis16.9
TestisGermCell65.6
TestisIntersitial30.2
TestisLeydigCell35.65
TestisSeminiferousTubule31.4
Thalamus9.55
Thymus16.25
Thyroid17.4
Tongue11.55
Tonsil55.3
Trachea10.2
TrigeminalGanglion11.6
Uterus15.85
UterusCorpus16.4
WholeBlood30.9
Wholebrain8
colon25.65
pineal_day49.12
pineal_night35.16
retina16.15
small_intestine19.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8557_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
Amygdala6.13 ± 0.39
Basal Forebrain6.4 ± 0.16
Basal Part of Pons6.09 ± 0.44
Cerebellar Cortex6.19 ± 0.34
Cerebellar Nuclei6.13 ± 0.24
Claustrum6.11 ± 0.71
Epithalamus6 ± 0.51
Frontal Lobe5.91 ± 0.28
Globus Pallidus6.34 ± 0.2
Hypothalamus6 ± 0.35
Insula5.8 ± 0.34
Limbic Lobe6.15 ± 0.38
Mesencephalon6.17 ± 0.29
Myelencephalon6.07 ± 0.34
Occipital Lobe6.53 ± 0.41
Parietal Lobe6.01 ± 0.28
Pontine Tegmentum6 ± 0.38
Striatum6.43 ± 0.41
Subthalamus5.98 ± 0.19
Temporal Lobe5.93 ± 0.29
Thalamus6.11 ± 0.3
White Matter5.99 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AqrCBCerebellum5.68
7.16
AqrCTXCerebral cortex3.93
3.09
AqrHIPHippocampal region4.83
4.55
AqrHPFHippocampal formation5.31
4.69
AqrHYHypothalamus1.76
1.75
AqrLSXLateral septal complex0.92
0.89
AqrMBMidbrain1.05
1.65
AqrMYMedulla4.66
5.58
AqrOLFOlfactory bulb11.45
10.6
AqrPPons2.05
2.61
AqrPALPallidum1.43
1.44
AqrRHPRetrohippocampal region6.41
4.93
AqrsAMYStriatum-like amygdalar nuclei4.62
3.53
AqrSTRStriatum2.42
2
AqrSTRdStriatum dorsal region2.09
1.86
AqrSTRvStriatum ventral region2.93
1.98
AqrTHThalamus2.33
2.56
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AQR_HUMAN_1 8 1 8 MAAPAQPK PRIDE
AQR_HUMAN_1034 12 1034 1045 IIAMTCTHAALK PRIDE
AQR_HUMAN_1046 6 1046 1051 RHDLVK PRIDE
AQR_HUMAN_1112 11 1112 1122 YSNMEQSLFTR PRIDE
AQR_HUMAN_1126 13 1126 1138 VGVPTVDLDAQGR PRIDE
AQR_HUMAN_1141 10 1141 1150 ASLCNLYNWR PRIDE
AQR_HUMAN_1245 12 1245 1256 CGNNPLIGRPNK PRIDE
AQR_HUMAN_1344 13 1344 1356 NGERPSHEVQIIK PRIDE
AQR_HUMAN_196 6 196 201 FWNLIK PRIDE
AQR_HUMAN_401 10 401 410 EFLLELLVSR PRIDE
AQR_HUMAN_455 14 455 468 LNLQFLTLHDYLLR PRIDE
AQR_HUMAN_605 15 605 619 GRVIEDGPEPRPNLR PRIDE
AQR_HUMAN_607 13 607 619 VIEDGPEPRPNLR PRIDE
AQR_HUMAN_668 7 668 674 AVLETIR PRIDE
AQR_HUMAN_798 14 798 811 NTIQFTHTQIEAIR PRIDE
AQR_HUMAN_906 8 906 913 IELLEEVK PRIDE
PAp00063345 18 812 829 AGMQPGLTMVVGPPGTGK Peptide Atlas

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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