AutismKB 2.0

Annotation Detail for ATRX


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Basic Information Top
Gene Symbol:ATRX ( ATR2,MGC2094,MRXHF1,RAD54,RAD54L,SFM1,SHS,XH2,XNP,ZNF-HX )
Gene Full Name: alpha thalassemia/mental retardation syndrome X-linked
Band: Xq21.1
Quick LinksEntrez ID:546; OMIM: 300032; Uniprot ID:ATRX_HUMAN; ENSEMBL ID: ENSG00000085224; HGNC ID: 886
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 body12 / 70761169
blastocyst6 / 6231996
fetus74 / 564012131
neonate0 / 310970 
infant1 / 2362042
juvenile2 / 5555635
adult186 / 193912195
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) tumor4 / 9417842
cervical tumor4 / 34366116
chondrosarcoma6 / 8282372
colorectal tumor14 / 114246122
esophageal tumor1 / 1729057
gastrointestinal tumor14 / 119369117
germ cell tumor19 / 26384572
glioma0 / 1068830 
head and neck tumor14 / 136302102
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor10 / 96359103
lung tumor6 / 10312758
lymphoma1 / 7175513
non-neoplasia5 / 9725051
normal316 / 336030794
ovarian tumor4 / 7668252
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer6 / 10268058
retinoblastoma3 / 4635664
skin tumor6 / 12494948
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder1 / 2975733
blood4 / 12347832
bone5 / 7165569
bone marrow4 / 4880181
brain73 / 110098966
cervix4 / 4817183
connective tissue10 / 14925566
ear5 / 16212308
embryonic tissue23 / 215722106
esophagus1 / 2020949
eye16 / 21105475
heart11 / 89626122
intestine15 / 23447263
kidney17 / 21177780
larynx1 / 2414541
liver31 / 207743149
lung37 / 336974109
lymph0 / 442700 
lymph node13 / 91610141
mammary gland32 / 153271208
mouth6 / 6705289
muscle19 / 107715176
nerve1 / 1576863
ovary6 / 10205158
pancreas22 / 214812102
parathyroid5 / 20539243
pharynx4 / 4132896
pituitary gland3 / 16585180
placenta19 / 28082567
prostate10 / 18934552
salivary gland0 / 201550 
skin9 / 21057442
spleen1 / 5395218
stomach18 / 96619186
testis15 / 33044245
thymus3 / 8113136
thyroid8 / 47473168
tonsil1 / 1699958
trachea5 / 5241395
umbilical cord0 / 136800 
uterus23 / 23287898
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208860_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts52.9
Adipocyte57.75
AdrenalCortex28.95
Adrenalgland21.7
Amygdala143.65
Appendix24.3
AtrioventricularNode38.3
BDCA4+_DentriticCells99.4
Bonemarrow25.1
BronchialEpithelialCells22.2
CD105+_Endothelial26.9
CD14+_Monocytes45.6
CD19+_BCells(neg._sel.)110.95
CD33+_Myeloid118.1
CD34+115.9
CD4+_Tcells179.95
CD56+_NKCells144.25
CD71+_EarlyErythroid25.4
CD8+_Tcells238.65
CardiacMyocytes47.9
Caudatenucleus31.95
Cerebellum22.15
CerebellumPeduncles48.3
CiliaryGanglion32.5
CingulateCortex85.8
Colorectaladenocarcinoma32.5
DorsalRootGanglion29.15
FetalThyroid31.8
Fetalbrain221
Fetalliver24.1
Fetallung31.85
GlobusPallidus49.75
Heart19.6
Hypothalamus47.6
Kidney17.75
Leukemia_chronicMyelogenousK-56214.7
Leukemia_promyelocytic-HL-6022.4
Leukemialymphoblastic(MOLT-4)63.3
Liver32.8
Lung11.85
Lymphnode27.9
Lymphoma_burkitts(Daudi)52.45
Lymphoma_burkitts(Raji)46.85
MedullaOblongata75.85
OccipitalLobe87.05
OlfactoryBulb50.1
Ovary33.25
Pancreas28.45
PancreaticIslet32.1
ParietalLobe61
Pituitary68.5
Placenta14.8
Pons37.25
PrefrontalCortex161.95
Prostate34.75
Salivarygland59.4
SkeletalMuscle41.35
Skin28.4
SmoothMuscle57.25
Spinalcord17.7
SubthalamicNucleus48.85
SuperiorCervicalGanglion42.35
TemporalLobe32.15
Testis12.45
TestisGermCell20.15
TestisIntersitial24.8
TestisLeydigCell27.95
TestisSeminiferousTubule25.3
Thalamus51.75
Thymus21.9
Thyroid45.5
Tongue34.4
Tonsil63.7
Trachea26.1
TrigeminalGanglion41.3
Uterus70.1
UterusCorpus30.9
WholeBlood45.3
Wholebrain17.9
colon28.2
pineal_day298.8
pineal_night272.54
retina51.975
small_intestine26.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4633_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
Amygdala5.68 ± 0.31
Basal Forebrain5.57 ± 0.23
Basal Part of Pons5.6 ± 0.37
Cerebellar Cortex5.93 ± 0.18
Cerebellar Nuclei5.33 ± 0.58
Claustrum5.77 ± 0.5
Epithalamus5.52 ± 0.26
Frontal Lobe5.53 ± 0.44
Globus Pallidus5.34 ± 0.34
Hypothalamus5.2 ± 0.58
Insula5.52 ± 0.44
Limbic Lobe5.61 ± 0.47
Mesencephalon5.51 ± 0.53
Myelencephalon5.48 ± 0.46
Occipital Lobe5.6 ± 0.47
Parietal Lobe5.55 ± 0.46
Pontine Tegmentum5.54 ± 0.44
Striatum5.24 ± 0.37
Subthalamus5.05 ± 0.71
Temporal Lobe5.59 ± 0.41
Thalamus5.54 ± 0.41
White Matter5.33 ± 0.28
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AtrxCBCerebellum43
78.42
AtrxCTXCerebral cortex100
96.09
AtrxHIPHippocampal region85.36
100
AtrxHPFHippocampal formation98.18
97.11
AtrxHYHypothalamus59.75
42.47
AtrxLSXLateral septal complex100
73.46
AtrxMBMidbrain71.18
62.94
AtrxMYMedulla77.91
74.59
AtrxOLFOlfactory bulb100
94.91
AtrxPPons63.71
61.19
AtrxPALPallidum69.86
59.59
AtrxRHPRetrohippocampal region100
92.36
AtrxsAMYStriatum-like amygdalar nuclei67.67
40.28
AtrxSTRStriatum97.46
69.83
AtrxSTRdStriatum dorsal region100
72.15
AtrxSTRvStriatum ventral region86.79
65.54
AtrxTHThalamus94.07
72.74
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ATRX_HUMAN_2385 12 2385 2396 RREAIYNDVLTK PRIDE
PAp00003484 10 189 198 HPSLQVLICK 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