AutismKB 2.0

Annotation Detail for EYA1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EYA1 ( BOP,BOR,MGC141875 )
Gene Full Name: eyes absent homolog 1 (Drosophila)
Band: 8q13.3
Quick LinksEntrez ID:2138; OMIM: 601653; Uniprot ID:EYA1_HUMAN; ENSEMBL ID: ENSG00000104313; HGNC ID: 3519
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
blastocyst1 / 6231916
fetus10 / 56401217
neonate0 / 310970 
infant4 / 23620169
juvenile0 / 555560 
adult12 / 19391216
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal40 / 336030711
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
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 
brain18 / 110098916
cervix0 / 481710 
connective tissue1 / 1492556
ear6 / 16212370
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine0 / 2344720 
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung4 / 33697411
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth4 / 6705259
muscle0 / 1077150 
nerve1 / 1576863
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis7 / 33044221
thymus5 / 8113161
thyroid0 / 474730 
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214608_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.9
Adipocyte4.45
AdrenalCortex4.75
Adrenalgland3.85
Amygdala4.85
Appendix6.15
AtrioventricularNode3.8
BDCA4+_DentriticCells5.05
Bonemarrow4.5
BronchialEpithelialCells4.4
CD105+_Endothelial4.6
CD14+_Monocytes4.9
CD19+_BCells(neg._sel.)4.9
CD33+_Myeloid5.85
CD34+5.75
CD4+_Tcells4.85
CD56+_NKCells5.45
CD71+_EarlyErythroid4.25
CD8+_Tcells4.2
CardiacMyocytes6.15
Caudatenucleus7
Cerebellum3.65
CerebellumPeduncles5.1
CiliaryGanglion3.3
CingulateCortex4.65
Colorectaladenocarcinoma4.55
DorsalRootGanglion3.55
FetalThyroid4.55
Fetalbrain4.5
Fetalliver3.95
Fetallung3.65
GlobusPallidus3.4
Heart6
Hypothalamus5
Kidney3.8
Leukemia_chronicMyelogenousK-5624.1
Leukemia_promyelocytic-HL-604
Leukemialymphoblastic(MOLT-4)3.5
Liver6.1
Lung5.05
Lymphnode3.85
Lymphoma_burkitts(Daudi)5.8
Lymphoma_burkitts(Raji)6.65
MedullaOblongata5.15
OccipitalLobe4.05
OlfactoryBulb3.5
Ovary3.05
Pancreas3.75
PancreaticIslet4.85
ParietalLobe4.85
Pituitary7.4
Placenta4.7
Pons4.5
PrefrontalCortex5.9
Prostate6.25
Salivarygland3.6
SkeletalMuscle7
Skin4.45
SmoothMuscle5
Spinalcord4.85
SubthalamicNucleus4.1
SuperiorCervicalGanglion6.45
TemporalLobe4.15
Testis3.9
TestisGermCell3.85
TestisIntersitial3.8
TestisLeydigCell4.5
TestisSeminiferousTubule4
Thalamus4.6
Thymus3.85
Thyroid5.75
Tongue5.35
Tonsil4.45
Trachea3.8
TrigeminalGanglion5.7
Uterus3.7
UterusCorpus5.35
WholeBlood4.95
Wholebrain3.8
colon4.6
pineal_day26.66
pineal_night47.82
retina5.7
small_intestine4.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14700_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
Amygdala5.62 ± 0.45
Basal Forebrain5.79 ± 0.37
Basal Part of Pons4.43 ± 0.7
Cerebellar Cortex4.63 ± 0.45
Cerebellar Nuclei4.44 ± 0.63
Claustrum5.2 ± 0.79
Epithalamus7.09 ± 0.74
Frontal Lobe5.53 ± 0.76
Globus Pallidus7.26 ± 0.58
Hypothalamus5.48 ± 0.54
Insula5.37 ± 0.39
Limbic Lobe5.57 ± 0.65
Mesencephalon6.22 ± 0.91
Myelencephalon5.73 ± 1.12
Occipital Lobe6.15 ± 0.75
Parietal Lobe5.61 ± 0.72
Pontine Tegmentum6.2 ± 0.61
Striatum8.55 ± 1.35
Subthalamus5.33 ± 0.85
Temporal Lobe5.32 ± 0.61
Thalamus6.6 ± 0.59
White Matter4.74 ± 0.87
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Eya1CBCerebellum1.06
2.32
Eya1CTXCerebral cortex2.31
1.97
Eya1HIPHippocampal region9.04
10.63
Eya1HPFHippocampal formation6.73
7.35
Eya1HYHypothalamus0.23
0.33
Eya1LSXLateral septal complex0.59
1.03
Eya1MBMidbrain1.49
2.51
Eya1MYMedulla1.56
2.18
Eya1OLFOlfactory bulb4.77
4.06
Eya1PPons1.51
2.54
Eya1PALPallidum0.23
0.27
Eya1RHPRetrohippocampal region3.51
3.23
Eya1sAMYStriatum-like amygdalar nuclei0.41
0.69
Eya1STRStriatum0.55
0.61
Eya1STRdStriatum dorsal region0.65
0.64
Eya1STRvStriatum ventral region0.22
0.33
Eya1THThalamus0.92
1.06
Peptide Top

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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved