AutismKB 2.0

Annotation Detail for EPHA6


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:EPHA6 ( DKFZp434C1418,EPA6,FLJ35246,PRO57066 )
Gene Full Name: EPH receptor A6
Band: 3q11.2
Quick LinksEntrez ID:285220; OMIM: 600066; Uniprot ID:EPHA6_HUMAN; ENSEMBL ID: ENSG00000080224; HGNC ID: 19296
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 
fetus6 / 56401210
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult5 / 19391212
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) 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 tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal30 / 33603078
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 
bone0 / 716550 
bone marrow0 / 488010 
brain7 / 11009896
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
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 
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis11 / 33044233
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_250_PI416408490
  • 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
Amygdala6.82 ± 0.72
Basal Forebrain6.41 ± 0.49
Basal Part of Pons6.67 ± 0.3
Cerebellar Cortex6.26 ± 0.58
Cerebellar Nuclei5.53 ± 0.92
Claustrum4.73 ± 0.62
Epithalamus4.63 ± 0.86
Frontal Lobe6.3 ± 0.62
Globus Pallidus4.49 ± 0.98
Hypothalamus5.49 ± 1.03
Insula6.44 ± 0.47
Limbic Lobe7.02 ± 0.45
Mesencephalon6.25 ± 0.74
Myelencephalon6.16 ± 0.79
Occipital Lobe6.13 ± 0.88
Parietal Lobe6.2 ± 0.66
Pontine Tegmentum6.11 ± 0.87
Striatum6.92 ± 0.45
Subthalamus5.66 ± 0.63
Temporal Lobe6.44 ± 0.64
Thalamus6.22 ± 0.57
White Matter3.33 ± 0.69
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Epha6CBCerebellum20.91
33.06
Epha6CTXCerebral cortex63.3
60.69
Epha6HIPHippocampal region100
100
Epha6HPFHippocampal formation98.99
100
Epha6HYHypothalamus42.79
37.56
Epha6LSXLateral septal complex69.61
69.94
Epha6MBMidbrain36.61
36.4
Epha6MYMedulla42.38
48.44
Epha6OLFOlfactory bulb88.77
99.68
Epha6PPons36.64
39.26
Epha6PALPallidum58.25
63.22
Epha6RHPRetrohippocampal region91.11
100
Epha6sAMYStriatum-like amygdalar nuclei87.88
79.44
Epha6STRStriatum62.23
51.68
Epha6STRdStriatum dorsal region53.25
41.98
Epha6STRvStriatum ventral region75.21
60.52
Epha6THThalamus67.43
72.3
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00096602 11 897 907 NILVNSNLVCK 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