AutismKB 2.0

Annotation Detail for ATR


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Basic Information Top
Gene Symbol:ATR ( FRP1,MEC1,SCKL,SCKL1 )
Gene Full Name: ataxia telangiectasia and Rad3 related
Band: 3q23
Quick LinksEntrez ID:545; OMIM: 601215; Uniprot ID:ATR_HUMAN; ENSEMBL ID: ENSG00000175054; HGNC ID: 882
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
blastocyst3 / 6231948
fetus17 / 56401230
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult92 / 193912147
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 tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor9 / 11424678
esophageal tumor1 / 1729057
gastrointestinal tumor6 / 11936950
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor6 / 13630244
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal93 / 336030727
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor6 / 12494948
soft tissue/muscle tissue tumor23 / 125191183
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder1 / 2975733
blood0 / 1234780 
bone5 / 7165569
bone marrow0 / 488010 
brain21 / 110098919
cervix1 / 4817120
connective tissue21 / 149255140
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus1 / 2020949
eye3 / 21105414
heart0 / 896260 
intestine10 / 23447242
kidney2 / 2117779
larynx0 / 241450 
liver8 / 20774338
lung6 / 33697417
lymph0 / 442700 
lymph node10 / 91610109
mammary gland7 / 15327145
mouth3 / 6705244
muscle5 / 10771546
nerve3 / 15768190
ovary1 / 1020519
pancreas12 / 21481255
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta4 / 28082514
prostate2 / 18934510
salivary gland0 / 201550 
skin8 / 21057437
spleen0 / 539520 
stomach5 / 9661951
testis10 / 33044230
thymus1 / 8113112
thyroid3 / 4747363
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209903_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts59.65
Adipocyte7
AdrenalCortex14
Adrenalgland6.55
Amygdala27.75
Appendix7.75
AtrioventricularNode6.05
BDCA4+_DentriticCells33.45
Bonemarrow7.05
BronchialEpithelialCells11.05
CD105+_Endothelial31.75
CD14+_Monocytes19.9
CD19+_BCells(neg._sel.)49.45
CD33+_Myeloid57.3
CD34+75.7
CD4+_Tcells72
CD56+_NKCells53.15
CD71+_EarlyErythroid6.7
CD8+_Tcells126.25
CardiacMyocytes10.1
Caudatenucleus6.7
Cerebellum4.65
CerebellumPeduncles8.2
CiliaryGanglion5.55
CingulateCortex7.45
Colorectaladenocarcinoma55.4
DorsalRootGanglion6
FetalThyroid10.6
Fetalbrain7.25
Fetalliver6.65
Fetallung11.55
GlobusPallidus5.75
Heart9.3
Hypothalamus17.25
Kidney5.85
Leukemia_chronicMyelogenousK-56218
Leukemia_promyelocytic-HL-6045.9
Leukemialymphoblastic(MOLT-4)43.8
Liver10.25
Lung7.05
Lymphnode44.65
Lymphoma_burkitts(Daudi)24.85
Lymphoma_burkitts(Raji)43
MedullaOblongata9.3
OccipitalLobe6.85
OlfactoryBulb7.35
Ovary5.05
Pancreas9.7
PancreaticIslet7.95
ParietalLobe7.9
Pituitary9
Placenta5.15
Pons7.05
PrefrontalCortex24.9
Prostate11.4
Salivarygland6.1
SkeletalMuscle9.15
Skin6
SmoothMuscle8.65
Spinalcord8.45
SubthalamicNucleus6.9
SuperiorCervicalGanglion10.25
TemporalLobe6.4
Testis6.5
TestisGermCell10.6
TestisIntersitial7.75
TestisLeydigCell7.95
TestisSeminiferousTubule9.65
Thalamus7.2
Thymus6.05
Thyroid35.8
Tongue7.55
Tonsil8.4
Trachea6.45
TrigeminalGanglion8
Uterus22.6
UterusCorpus7.05
WholeBlood19.05
Wholebrain5.4
colon7.7
pineal_day42.96
pineal_night28.46
retina8.65
small_intestine8.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_99_PI416408490
  • 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
Amygdala6.42 ± 0.28
Basal Forebrain6.17 ± 0.13
Basal Part of Pons6.37 ± 0.26
Cerebellar Cortex6.2 ± 0.31
Cerebellar Nuclei6.31 ± 0.27
Claustrum6.55 ± 0.44
Epithalamus6.49 ± 0.31
Frontal Lobe6.28 ± 0.32
Globus Pallidus6.28 ± 0.25
Hypothalamus6.17 ± 0.3
Insula6.21 ± 0.34
Limbic Lobe6.59 ± 0.35
Mesencephalon6.31 ± 0.38
Myelencephalon6.33 ± 0.33
Occipital Lobe6.71 ± 0.31
Parietal Lobe6.46 ± 0.28
Pontine Tegmentum6.34 ± 0.33
Striatum6.55 ± 0.24
Subthalamus6.41 ± 0.42
Temporal Lobe6.31 ± 0.29
Thalamus6.4 ± 0.28
White Matter6.38 ± 0.57
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AtrCBCerebellum5.16
5.71
AtrCTXCerebral cortex1.3
1.74
AtrHIPHippocampal region2.47
2.8
AtrHPFHippocampal formation1.96
2.2
AtrHYHypothalamus0.67
0.65
AtrLSXLateral septal complex1.82
3.14
AtrMBMidbrain1.32
2.16
AtrMYMedulla1.78
2.67
AtrOLFOlfactory bulb2.31
3.71
AtrPPons1.43
2.09
AtrPALPallidum0.76
1.27
AtrRHPRetrohippocampal region1.12
1.44
AtrsAMYStriatum-like amygdalar nuclei0.52
0.63
AtrSTRStriatum0.79
1.01
AtrSTRdStriatum dorsal region0.66
0.9
AtrSTRvStriatum ventral region1.03
1
AtrTHThalamus0.87
1.46
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ATR_HUMAN_2 15 2 16 GEHGLELASMIPALR PRIDE
ATR_HUMAN_2206 15 2206 2220 SLEKFVGDATRLTDK PRIDE
ATR_HUMAN_993 26 993 1018 TLQVLLPDLAAKASPAASALIRTLGK PRIDE
PAp00009344 13 747 759 ATSQHECSSSQLK 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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