AutismKB 2.0

Annotation Detail for EWSR1


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Basic Information Top
Gene Symbol:EWSR1 ( EWS,bK984G1.4 )
Gene Full Name: Ewing sarcoma breakpoint region 1
Band: 22q12.2
Quick LinksEntrez ID:2130; OMIM: 133450; Uniprot ID:EWS_HUMAN; ENSEMBL ID: ENSG00000182944; HGNC ID: 3508
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 body25 / 70761353
blastocyst36 / 62319577
fetus161 / 564012285
neonate22 / 31097707
infant16 / 23620677
juvenile55 / 55556989
adult482 / 1939121248
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma4 / 17475228
breast (mammary gland) tumor24 / 94178254
cervical tumor12 / 34366349
chondrosarcoma19 / 82823229
colorectal tumor33 / 114246288
esophageal tumor2 / 17290115
gastrointestinal tumor36 / 119369301
germ cell tumor124 / 263845469
glioma33 / 106883308
head and neck tumor25 / 136302183
kidney tumor32 / 68959464
leukemia56 / 95842584
liver tumor37 / 96359383
lung tumor30 / 103127290
lymphoma54 / 71755752
non-neoplasia30 / 97250308
normal986 / 3360307293
ovarian tumor15 / 76682195
pancreatic tumor19 / 104616181
primitive neuroectodermal tumor of the CNS133 / 1256801058
prostate cancer23 / 102680223
retinoblastoma41 / 46356884
skin tumor50 / 124949400
soft tissue/muscle tissue tumor55 / 125191439
uterine tumor35 / 90257387
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland15 / 33197451
ascites9 / 40015224
bladder16 / 29757537
blood59 / 123478477
bone14 / 71655195
bone marrow19 / 48801389
brain367 / 1100989333
cervix14 / 48171290
connective tissue35 / 149255234
ear3 / 16212185
embryonic tissue91 / 215722421
esophagus3 / 20209148
eye75 / 211054355
heart22 / 89626245
intestine64 / 234472272
kidney70 / 211777330
larynx6 / 24145248
liver55 / 207743264
lung57 / 336974169
lymph36 / 44270813
lymph node24 / 91610261
mammary gland28 / 153271182
mouth8 / 67052119
muscle51 / 107715473
nerve7 / 15768443
ovary19 / 102051186
pancreas36 / 214812167
parathyroid0 / 205390 
pharynx6 / 41328145
pituitary gland4 / 16585241
placenta105 / 280825373
prostate40 / 189345211
salivary gland4 / 20155198
skin75 / 210574356
spleen31 / 53952574
stomach20 / 96619206
testis98 / 330442296
thymus50 / 81131616
thyroid13 / 47473273
tonsil18 / 169991058
trachea16 / 52413305
umbilical cord1 / 1368073
uterus87 / 232878373
vascular31 / 51780598
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210011_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts191.95
Adipocyte35.25
AdrenalCortex52.7
Adrenalgland30.45
Amygdala31
Appendix38.3
AtrioventricularNode27.75
BDCA4+_DentriticCells205.25
Bonemarrow35.55
BronchialEpithelialCells41.45
CD105+_Endothelial91.65
CD14+_Monocytes68.1
CD19+_BCells(neg._sel.)97.1
CD33+_Myeloid163.05
CD34+306.25
CD4+_Tcells157.7
CD56+_NKCells122.05
CD71+_EarlyErythroid98.75
CD8+_Tcells104.2
CardiacMyocytes64.85
Caudatenucleus31.45
Cerebellum29.9
CerebellumPeduncles56.65
CiliaryGanglion25.5
CingulateCortex39.1
Colorectaladenocarcinoma65.5
DorsalRootGanglion27.55
FetalThyroid42.8
Fetalbrain52.15
Fetalliver32.7
Fetallung37.25
GlobusPallidus25.2
Heart41
Hypothalamus45.05
Kidney29.1
Leukemia_chronicMyelogenousK-56241.9
Leukemia_promyelocytic-HL-6051.05
Leukemialymphoblastic(MOLT-4)106.55
Liver48.45
Lung40.9
Lymphnode40.85
Lymphoma_burkitts(Daudi)104.15
Lymphoma_burkitts(Raji)98.25
MedullaOblongata32
OccipitalLobe32.3
OlfactoryBulb39.35
Ovary23.5
Pancreas39.55
PancreaticIslet42.25
ParietalLobe42.8
Pituitary44.65
Placenta43.65
Pons37.6
PrefrontalCortex51.35
Prostate48.45
Salivarygland16.5
SkeletalMuscle43.65
Skin27.75
SmoothMuscle81.3
Spinalcord43.4
SubthalamicNucleus36.35
SuperiorCervicalGanglion41.35
TemporalLobe34.45
Testis50
TestisGermCell70.1
TestisIntersitial96.55
TestisLeydigCell58.9
TestisSeminiferousTubule55
Thalamus37.6
Thymus53.1
Thyroid50.2
Tongue34.35
Tonsil50.05
Trachea31.75
TrigeminalGanglion36.2
Uterus45.3
UterusCorpus32.75
WholeBlood45.35
Wholebrain33.95
colon41.05
pineal_day95.72
pineal_night77.84
retina48.95
small_intestine38.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P384578
  • 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
Amygdala5.92 ± 0.27
Basal Forebrain5.85 ± 0.12
Basal Part of Pons5.66 ± 0.42
Cerebellar Cortex6.05 ± 0.17
Cerebellar Nuclei5.72 ± 0.15
Claustrum5.82 ± 0.57
Epithalamus6.09 ± 0.33
Frontal Lobe5.58 ± 0.36
Globus Pallidus5.76 ± 0.43
Hypothalamus5.48 ± 0.34
Insula5.36 ± 0.38
Limbic Lobe5.75 ± 0.39
Mesencephalon5.61 ± 0.37
Myelencephalon5.71 ± 0.4
Occipital Lobe5.98 ± 0.41
Parietal Lobe5.78 ± 0.34
Pontine Tegmentum5.71 ± 0.47
Striatum5.78 ± 0.4
Subthalamus5.57 ± 0.37
Temporal Lobe5.66 ± 0.3
Thalamus5.68 ± 0.4
White Matter6.37 ± 0.24
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ewsr1CBCerebellum23.15
21.6
Ewsr1CTXCerebral cortex23.41
14.86
Ewsr1HIPHippocampal region51.85
43.98
Ewsr1HPFHippocampal formation50.45
40.59
Ewsr1HYHypothalamus15.68
8.72
Ewsr1LSXLateral septal complex15.82
8.19
Ewsr1MBMidbrain11.41
7.85
Ewsr1MYMedulla24.93
20.88
Ewsr1OLFOlfactory bulb55.04
32.91
Ewsr1PPons18.03
14.37
Ewsr1PALPallidum7.94
5.05
Ewsr1RHPRetrohippocampal region47.53
34.41
Ewsr1sAMYStriatum-like amygdalar nuclei31.99
18.89
Ewsr1STRStriatum17.66
10.14
Ewsr1STRdStriatum dorsal region14.39
8.49
Ewsr1STRvStriatum ventral region23.37
12.07
Ewsr1THThalamus22.58
15.07
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EWS_HUMAN_268 24 268 291 QDHPSSMGVYGQESGGFSGPGENR PRIDE
EWS_HUMAN_269 24 269 292 QDHPSSMGVYGQESGGFSGPGENR PRIDE
EWS_HUMAN_410 14 410 423 GDATVSYEDPPTAK PRIDE
EWS_HUMAN_472 15 472 486 GGPGGPGGPGGPMGR PRIDE
PAp00484434 24 269 292 QDHPSSMGVYGQESGGFSGPGENR 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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