AutismKB 2.0

Annotation Detail for EPAS1


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Basic Information Top
Gene Symbol:EPAS1 ( ECYT4,HIF2A,HLF,MOP2,PASD2,bHLHe73 )
Gene Full Name: endothelial PAS domain protein 1
Band: 2p21
Quick LinksEntrez ID:2034; OMIM: 603349; Uniprot ID:EPAS1_HUMAN; ENSEMBL ID: ENSG00000116016; HGNC ID: 3374
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 body6 / 7076184
blastocyst0 / 623190 
fetus66 / 564012117
neonate2 / 3109764
infant1 / 2362042
juvenile3 / 5555653
adult469 / 1939121241
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) tumor2 / 9417821
cervical tumor4 / 34366116
chondrosarcoma31 / 82823374
colorectal tumor12 / 114246105
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor8 / 26384530
glioma19 / 106883177
head and neck tumor25 / 136302183
kidney tumor5 / 6895972
leukemia0 / 958420 
liver tumor11 / 96359114
lung tumor16 / 103127155
lymphoma3 / 7175541
non-neoplasia12 / 97250123
normal711 / 3360307211
ovarian tumor6 / 7668278
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor7 / 12494956
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue7 / 13106534
adrenal gland4 / 33197120
ascites4 / 4001599
bladder4 / 29757134
blood1 / 1234788
bone19 / 71655265
bone marrow2 / 4880140
brain161 / 1100989146
cervix5 / 48171103
connective tissue33 / 149255221
ear2 / 16212123
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye27 / 211054127
heart18 / 89626200
intestine26 / 234472110
kidney21 / 21177799
larynx0 / 241450 
liver23 / 207743110
lung122 / 336974362
lymph2 / 4427045
lymph node1 / 9161010
mammary gland6 / 15327139
mouth13 / 67052193
muscle5 / 10771546
nerve4 / 15768253
ovary4 / 10205139
pancreas25 / 214812116
parathyroid13 / 20539632
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta251 / 280825893
prostate17 / 18934589
salivary gland5 / 20155248
skin27 / 210574128
spleen5 / 5395292
stomach7 / 9661972
testis33 / 33044299
thymus5 / 8113161
thyroid10 / 47473210
tonsil0 / 169990 
trachea59 / 524131125
umbilical cord1 / 1368073
uterus47 / 232878201
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 200878_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.6
Adipocyte467.1
AdrenalCortex231.4
Adrenalgland440.5
Amygdala287.75
Appendix478.95
AtrioventricularNode91.7
BDCA4+_DentriticCells3.95
Bonemarrow39.7
BronchialEpithelialCells487.25
CD105+_Endothelial105.5
CD14+_Monocytes6.6
CD19+_BCells(neg._sel.)4.45
CD33+_Myeloid6.85
CD34+6.05
CD4+_Tcells3.85
CD56+_NKCells4.5
CD71+_EarlyErythroid11.45
CD8+_Tcells4.6
CardiacMyocytes262.15
Caudatenucleus223.45
Cerebellum178.1
CerebellumPeduncles163.6
CiliaryGanglion169.1
CingulateCortex265.45
Colorectaladenocarcinoma513.3
DorsalRootGanglion98.65
FetalThyroid385.4
Fetalbrain67.05
Fetalliver270.85
Fetallung2028.6
GlobusPallidus110.85
Heart1064.6
Hypothalamus419.1
Kidney543.05
Leukemia_chronicMyelogenousK-56225.5
Leukemia_promyelocytic-HL-605.05
Leukemialymphoblastic(MOLT-4)6.9
Liver488.05
Lung6335.05
Lymphnode495.05
Lymphoma_burkitts(Daudi)8.75
Lymphoma_burkitts(Raji)4.7
MedullaOblongata130.55
OccipitalLobe345.3
OlfactoryBulb329.05
Ovary198.95
Pancreas324.7
PancreaticIslet921.95
ParietalLobe194.2
Pituitary275
Placenta7325.65
Pons100.75
PrefrontalCortex523.35
Prostate731.75
Salivarygland178.3
SkeletalMuscle134.15
Skin148.2
SmoothMuscle833.05
Spinalcord281.2
SubthalamicNucleus118.75
SuperiorCervicalGanglion28.95
TemporalLobe124.1
Testis150.6
TestisGermCell250.55
TestisIntersitial97.95
TestisLeydigCell101.8
TestisSeminiferousTubule106.5
Thalamus244.75
Thymus258.4
Thyroid1298.95
Tongue94.35
Tonsil208.8
Trachea494.45
TrigeminalGanglion61.45
Uterus805.75
UterusCorpus331.05
WholeBlood7.65
Wholebrain315.6
colon380.95
pineal_day120.12
pineal_night118.04
retina1433.15
small_intestine562.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P430120
  • 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
Amygdala8.37 ± 0.53
Basal Forebrain8.39 ± 0.37
Basal Part of Pons7.94 ± 0.36
Cerebellar Cortex7.73 ± 0.23
Cerebellar Nuclei8.88 ± 0.34
Claustrum8.95 ± 0.54
Epithalamus7.38 ± 0.78
Frontal Lobe8.21 ± 0.51
Globus Pallidus9.38 ± 0.27
Hypothalamus8.08 ± 0.35
Insula8.01 ± 0.48
Limbic Lobe8.2 ± 0.61
Mesencephalon8.51 ± 0.52
Myelencephalon8.41 ± 0.59
Occipital Lobe8.33 ± 0.55
Parietal Lobe8.33 ± 0.6
Pontine Tegmentum8.45 ± 0.6
Striatum9.07 ± 0.68
Subthalamus8.58 ± 0.15
Temporal Lobe8.11 ± 0.48
Thalamus8.61 ± 0.39
White Matter9.23 ± 0.51
Mouse Brain ISH
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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