AutismKB 2.0

Annotation Detail for EPHA1


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Basic Information Top
Gene Symbol:EPHA1 ( EPH,EPHT,EPHT1,MGC163163 )
Gene Full Name: EPH receptor A1
Band: 7q34-q35
Quick LinksEntrez ID:2041; OMIM: 179610; Uniprot ID:EPHA1_HUMAN; ENSEMBL ID: ENSG00000146904; HGNC ID: 3385
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 body2 / 7076128
blastocyst7 / 62319112
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult47 / 193912124
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor1 / 1142468
esophageal tumor2 / 17290115
gastrointestinal tumor5 / 11936941
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor6 / 13630244
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal34 / 336030710
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
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 
ascites5 / 40015124
bladder1 / 2975733
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain3 / 11009892
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus2 / 2020998
eye0 / 2110540 
heart1 / 8962611
intestine2 / 2344728
kidney0 / 2117770 
larynx1 / 2414541
liver6 / 20774328
lung4 / 33697411
lymph0 / 442700 
lymph node1 / 9161010
mammary gland3 / 15327119
mouth5 / 6705274
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas2 / 2148129
parathyroid18 / 20539876
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis6 / 33044218
thymus4 / 8113149
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205977_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.15
Adipocyte4.1
AdrenalCortex4.4
Adrenalgland3.55
Amygdala4.35
Appendix4.5
AtrioventricularNode3.2
BDCA4+_DentriticCells4.6
Bonemarrow4.1
BronchialEpithelialCells4.15
CD105+_Endothelial4.25
CD14+_Monocytes4.45
CD19+_BCells(neg._sel.)4.4
CD33+_Myeloid5.25
CD34+5.25
CD4+_Tcells4.55
CD56+_NKCells5
CD71+_EarlyErythroid3.9
CD8+_Tcells4.05
CardiacMyocytes5.5
Caudatenucleus3.75
Cerebellum3.4
CerebellumPeduncles4.7
CiliaryGanglion2.9
CingulateCortex4.3
Colorectaladenocarcinoma4.15
DorsalRootGanglion3.2
FetalThyroid4.05
Fetalbrain4.15
Fetalliver4.35
Fetallung3.7
GlobusPallidus3.05
Heart5.45
Hypothalamus4.5
Kidney3.4
Leukemia_chronicMyelogenousK-5623.8
Leukemia_promyelocytic-HL-603.7
Leukemialymphoblastic(MOLT-4)3.35
Liver13.15
Lung4.7
Lymphnode4.05
Lymphoma_burkitts(Daudi)5.35
Lymphoma_burkitts(Raji)5.95
MedullaOblongata3.8
OccipitalLobe3.7
OlfactoryBulb3.25
Ovary2.75
Pancreas3.3
PancreaticIslet4.45
ParietalLobe4.45
Pituitary4.9
Placenta4.4
Pons3.95
PrefrontalCortex5.2
Prostate4.85
Salivarygland3.3
SkeletalMuscle5
Skin3.2
SmoothMuscle4.7
Spinalcord4.45
SubthalamicNucleus3.8
SuperiorCervicalGanglion4.8
TemporalLobe3.8
Testis4.6
TestisGermCell3.65
TestisIntersitial3.55
TestisLeydigCell4.15
TestisSeminiferousTubule3.6
Thalamus4.25
Thymus3.35
Thyroid5.3
Tongue4.3
Tonsil5.6
Trachea3.5
TrigeminalGanglion4.65
Uterus3.4
UterusCorpus3.9
WholeBlood4.55
Wholebrain3.5
colon4.2
pineal_day5.18
pineal_night5.06
retina5.025
small_intestine4.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15023_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
Amygdala3.22 ± 0.73
Basal Forebrain3.14 ± 0.33
Basal Part of Pons3.4 ± 0.58
Cerebellar Cortex3.98 ± 0.22
Cerebellar Nuclei3.33 ± 0.38
Claustrum3.37 ± 0.78
Epithalamus3.31 ± 0.38
Frontal Lobe3.26 ± 0.64
Globus Pallidus3.52 ± 0.72
Hypothalamus3.33 ± 0.68
Insula3.22 ± 0.38
Limbic Lobe3.13 ± 0.53
Mesencephalon3.4 ± 0.56
Myelencephalon3.38 ± 0.66
Occipital Lobe3.48 ± 0.66
Parietal Lobe3.31 ± 0.63
Pontine Tegmentum3.22 ± 0.65
Striatum3.11 ± 0.62
Subthalamus2.72 ± 0.32
Temporal Lobe3.23 ± 0.75
Thalamus4.05 ± 0.57
White Matter3.45 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Epha1CBCerebellum1.42
2.31
Epha1CTXCerebral cortex1.05
1.45
Epha1HIPHippocampal region1.42
1.93
Epha1HPFHippocampal formation1.39
1.8
Epha1HYHypothalamus1.14
1.35
Epha1LSXLateral septal complex0.4
0.46
Epha1MBMidbrain1.94
1.79
Epha1MYMedulla1.55
1.84
Epha1OLFOlfactory bulb1.34
1.54
Epha1PPons0.83
1.02
Epha1PALPallidum0.87
1.05
Epha1RHPRetrohippocampal region1.34
1.58
Epha1sAMYStriatum-like amygdalar nuclei0.87
0.84
Epha1STRStriatum0.94
1.04
Epha1STRdStriatum dorsal region1.11
1.32
Epha1STRvStriatum ventral region0.52
0.4
Epha1THThalamus8.39
6.92
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
EPHA1_HUMAN_0 0 0 0 DLASGSVKLNVERCSLGR PRIDE
PAp00095392 18 320 337 APGEGPQVACTGPPSAPR 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