AutismKB 2.0

Annotation Detail for HEY1


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Basic Information Top
Gene Symbol:HEY1 ( BHLHb31,CHF2,HERP2,HESR1,HRT-1,MGC1274,OAF1 )
Gene Full Name: hairy/enhancer-of-split related with YRPW motif 1
Band: 8q21.13
Quick LinksEntrez ID:23462; OMIM: 602953; Uniprot ID:HEY1_HUMAN; ENSEMBL ID: ENSG00000164683; HGNC ID: 4880
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 body4 / 7076156
blastocyst0 / 623190 
fetus32 / 56401256
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult47 / 193912124
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 
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor4 / 26384515
glioma16 / 106883149
head and neck tumor3 / 13630222
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor4 / 10312738
lymphoma2 / 7175527
non-neoplasia1 / 9725010
normal151 / 336030744
ovarian tumor4 / 7668252
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone4 / 7165555
bone marrow1 / 4880120
brain126 / 1100989114
cervix4 / 4817183
connective tissue0 / 1492550 
ear5 / 16212308
embryonic tissue7 / 21572232
esophagus1 / 2020949
eye3 / 21105414
heart5 / 8962655
intestine3 / 23447212
kidney8 / 21177737
larynx0 / 241450 
liver1 / 2077434
lung11 / 33697432
lymph1 / 4427022
lymph node1 / 9161010
mammary gland1 / 1532716
mouth3 / 6705244
muscle2 / 10771518
nerve2 / 15768126
ovary2 / 10205119
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta14 / 28082549
prostate1 / 1893455
salivary gland0 / 201550 
skin5 / 21057423
spleen2 / 5395237
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord0 / 136800 
uterus6 / 23287825
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 44783_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts16.15
Adipocyte7.6
AdrenalCortex9.25
Adrenalgland18
Amygdala255.45
Appendix110.25
AtrioventricularNode23.75
BDCA4+_DentriticCells9.65
Bonemarrow11.75
BronchialEpithelialCells14.55
CD105+_Endothelial12.1
CD14+_Monocytes6.9
CD19+_BCells(neg._sel.)8.95
CD33+_Myeloid18.8
CD34+9.15
CD4+_Tcells7.35
CD56+_NKCells11
CD71+_EarlyErythroid10
CD8+_Tcells7.8
CardiacMyocytes26.65
Caudatenucleus273
Cerebellum140.25
CerebellumPeduncles110.15
CiliaryGanglion25.55
CingulateCortex115.25
Colorectaladenocarcinoma19.05
DorsalRootGanglion57.8
FetalThyroid27.6
Fetalbrain368.85
Fetalliver12.7
Fetallung144.9
GlobusPallidus39.35
Heart67.55
Hypothalamus298.35
Kidney8.1
Leukemia_chronicMyelogenousK-56220.25
Leukemia_promyelocytic-HL-6019.05
Leukemialymphoblastic(MOLT-4)6.3
Liver35.3
Lung889.05
Lymphnode18.95
Lymphoma_burkitts(Daudi)18.65
Lymphoma_burkitts(Raji)41.1
MedullaOblongata146.45
OccipitalLobe134.35
OlfactoryBulb261.55
Ovary17.95
Pancreas14.2
PancreaticIslet24.8
ParietalLobe99.2
Pituitary143.35
Placenta210.95
Pons101.15
PrefrontalCortex209.45
Prostate34.85
Salivarygland21
SkeletalMuscle57.75
Skin19.35
SmoothMuscle17.6
Spinalcord241.1
SubthalamicNucleus60.95
SuperiorCervicalGanglion79.25
TemporalLobe131.2
Testis43.1
TestisGermCell19.85
TestisIntersitial11.95
TestisLeydigCell27.85
TestisSeminiferousTubule25.25
Thalamus91.25
Thymus30.5
Thyroid85.85
Tongue22.25
Tonsil16.25
Trachea62.2
TrigeminalGanglion59.45
Uterus26.95
UterusCorpus27.25
WholeBlood25.95
Wholebrain395.9
colon33.35
pineal_day489.3
pineal_night549.86
retina223.475
small_intestine37.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11707_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
Amygdala6.28 ± 0.4
Basal Forebrain6.11 ± 0.32
Basal Part of Pons5.82 ± 0.46
Cerebellar Cortex5.76 ± 0.22
Cerebellar Nuclei6.19 ± 0.39
Claustrum6.47 ± 0.48
Epithalamus5.81 ± 0.58
Frontal Lobe6.03 ± 0.42
Globus Pallidus6.55 ± 0.24
Hypothalamus6.04 ± 0.55
Insula5.96 ± 0.32
Limbic Lobe6.22 ± 0.42
Mesencephalon6.11 ± 0.47
Myelencephalon6.12 ± 0.48
Occipital Lobe5.94 ± 0.46
Parietal Lobe6.12 ± 0.55
Pontine Tegmentum6.32 ± 0.45
Striatum7.02 ± 0.27
Subthalamus5.97 ± 0.16
Temporal Lobe6.08 ± 0.35
Thalamus6.01 ± 0.4
White Matter5.54 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Hey1CBCerebellum12.69
19.21
Hey1CTXCerebral cortex17.73
13.73
Hey1HIPHippocampal region11.76
12.83
Hey1HPFHippocampal formation9.23
9.12
Hey1HYHypothalamus0.97
0.75
Hey1LSXLateral septal complex20.97
20.93
Hey1MBMidbrain2.75
2.51
Hey1MYMedulla4.29
4.31
Hey1OLFOlfactory bulb13.51
11.12
Hey1PPons2.3
2.84
Hey1PALPallidum2.93
3.34
Hey1RHPRetrohippocampal region4.54
3.57
Hey1sAMYStriatum-like amygdalar nuclei1.38
1.44
Hey1STRStriatum11.49
8.46
Hey1STRdStriatum dorsal region11.76
8.37
Hey1STRvStriatum ventral region15.34
10.95
Hey1THThalamus5.3
4.63
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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