AutismKB 2.0

Annotation Detail for EYA2


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Basic Information Top
Gene Symbol:EYA2 ( EAB1,MGC10614 )
Gene Full Name: eyes absent homolog 2 (Drosophila)
Band: 20q13.12
Quick LinksEntrez ID:2139; OMIM: 601654; Uniprot ID:EYA2_HUMAN; ENSEMBL ID: ENSG00000064655; HGNC ID: 3520
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 body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult39 / 193912120
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus0 / 5640120 
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult1 / 19391210 
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor16 / 103127155
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal45 / 336030713
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma5 / 46356107
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor13 / 90257144
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal0 / 33603070 
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
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 
bone1 / 7165513
bone marrow1 / 4880120
brain8 / 11009897
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye9 / 21105442
heart0 / 896260 
intestine1 / 2344724
kidney7 / 21177733
larynx0 / 241450 
liver0 / 2077430 
lung24 / 33697471
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth1 / 6705214
muscle0 / 1077150 
nerve1 / 1576863
ovary5 / 10205148
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta2 / 2808257
prostate5 / 18934526
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach5 / 9661951
testis2 / 3304426
thymus4 / 8113149
thyroid4 / 4747384
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus14 / 23287860
vascular1 / 5178019
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209692_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.95
Adipocyte6.1
AdrenalCortex4.55
Adrenalgland3.7
Amygdala4.7
Appendix4.45
AtrioventricularNode5.3
BDCA4+_DentriticCells4.55
Bonemarrow4.35
BronchialEpithelialCells4.45
CD105+_Endothelial4.5
CD14+_Monocytes4.7
CD19+_BCells(neg._sel.)4.7
CD33+_Myeloid5.45
CD34+5.65
CD4+_Tcells4.8
CD56+_NKCells5.35
CD71+_EarlyErythroid4.1
CD8+_Tcells4.2
CardiacMyocytes5.65
Caudatenucleus3.95
Cerebellum3.6
CerebellumPeduncles5
CiliaryGanglion3.2
CingulateCortex4.55
Colorectaladenocarcinoma4.45
DorsalRootGanglion3.75
FetalThyroid5.3
Fetalbrain4.45
Fetalliver3.8
Fetallung3.55
GlobusPallidus3.25
Heart5.8
Hypothalamus4.9
Kidney3.6
Leukemia_chronicMyelogenousK-5624
Leukemia_promyelocytic-HL-603.9
Leukemialymphoblastic(MOLT-4)3.6
Liver5.9
Lung5
Lymphnode3.85
Lymphoma_burkitts(Daudi)5.7
Lymphoma_burkitts(Raji)6.2
MedullaOblongata4.15
OccipitalLobe4
OlfactoryBulb9.3
Ovary2.95
Pancreas3.55
PancreaticIslet4.75
ParietalLobe4.7
Pituitary5.8
Placenta4.65
Pons4.2
PrefrontalCortex5.6
Prostate5.9
Salivarygland5.75
SkeletalMuscle5.85
Skin3.45
SmoothMuscle5.05
Spinalcord5.7
SubthalamicNucleus4.05
SuperiorCervicalGanglion5.05
TemporalLobe4.05
Testis5.2
TestisGermCell3.8
TestisIntersitial3.75
TestisLeydigCell4.4
TestisSeminiferousTubule3.9
Thalamus4.55
Thymus6.45
Thyroid16
Tongue4.75
Tonsil4.4
Trachea5.15
TrigeminalGanglion4.45
Uterus3.65
UterusCorpus4.1
WholeBlood4.9
Wholebrain3.8
colon5
pineal_day5.52
pineal_night5.4
retina8.525
small_intestine4.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P319859
  • 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
Amygdala4.9 ± 0.55
Basal Forebrain5.77 ± 0.46
Basal Part of Pons5.63 ± 0.66
Cerebellar Cortex4.56 ± 0.35
Cerebellar Nuclei6.4 ± 0.56
Claustrum4.35 ± 1.05
Epithalamus5.33 ± 0.53
Frontal Lobe5.27 ± 0.53
Globus Pallidus6.4 ± 0.34
Hypothalamus5.64 ± 0.6
Insula5.46 ± 0.38
Limbic Lobe4.93 ± 0.67
Mesencephalon5.23 ± 0.7
Myelencephalon5.3 ± 0.77
Occipital Lobe5.17 ± 0.56
Parietal Lobe5.31 ± 0.68
Pontine Tegmentum5.13 ± 0.7
Striatum6.12 ± 0.38
Subthalamus4.47 ± 0.37
Temporal Lobe5.17 ± 0.73
Thalamus5.57 ± 0.63
White Matter3.14 ± 0.51
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Eya2CBCerebellum14.07
19.92
Eya2CTXCerebral cortex5.05
4.37
Eya2HIPHippocampal region5.97
7.19
Eya2HPFHippocampal formation6.02
6.31
Eya2HYHypothalamus3.22
2.65
Eya2LSXLateral septal complex0.79
0.71
Eya2MBMidbrain4.3
4.95
Eya2MYMedulla8.25
10.63
Eya2OLFOlfactory bulb9.71
8.5
Eya2PPons7.04
9.62
Eya2PALPallidum2.94
2.88
Eya2RHPRetrohippocampal region5.86
5.08
Eya2sAMYStriatum-like amygdalar nuclei2.2
1.93
Eya2STRStriatum2.31
2.09
Eya2STRdStriatum dorsal region1.34
1.21
Eya2STRvStriatum ventral region5.9
4.93
Eya2THThalamus4.21
4.1
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


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