AutismKB 2.0

Annotation Detail for HEG1


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Basic Information Top
Gene Symbol:HEG1 ( HEG,KIAA1237,MGC72175,MST112,MSTP112 )
Gene Full Name: HEG homolog 1 (zebrafish)
Band: 3q21.2
Quick LinksEntrez ID:57493; OMIM: NA; Uniprot ID:HEG1_HUMAN; ENSEMBL ID: ENSG00000173706; HGNC ID: 29227
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 body9 / 70761127
blastocyst2 / 6231932
fetus27 / 56401247
neonate2 / 3109764
infant0 / 236200 
juvenile0 / 555560 
adult160 / 193912182
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) tumor6 / 9417863
cervical tumor2 / 3436658
chondrosarcoma19 / 82823229
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor25 / 26384594
glioma4 / 10688337
head and neck tumor12 / 13630288
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor11 / 96359114
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia8 / 9725082
normal222 / 336030766
ovarian tumor6 / 7668278
pancreatic tumor11 / 104616105
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue5 / 13106381
adrenal gland0 / 331970 
ascites3 / 4001574
bladder0 / 297570 
blood1 / 1234788
bone5 / 7165569
bone marrow3 / 4880161
brain30 / 110098927
cervix2 / 4817141
connective tissue23 / 149255154
ear0 / 162120 
embryonic tissue17 / 21572278
esophagus0 / 202090 
eye21 / 21105499
heart8 / 8962689
intestine4 / 23447217
kidney20 / 21177794
larynx1 / 2414541
liver15 / 20774372
lung14 / 33697441
lymph0 / 442700 
lymph node6 / 9161065
mammary gland14 / 15327191
mouth7 / 67052104
muscle8 / 10771574
nerve0 / 157680 
ovary8 / 10205178
pancreas20 / 21481293
parathyroid2 / 2053997
pharynx3 / 4132872
pituitary gland2 / 16585120
placenta22 / 28082578
prostate2 / 18934510
salivary gland0 / 201550 
skin10 / 21057447
spleen6 / 53952111
stomach2 / 9661920
testis21 / 33044263
thymus2 / 8113124
thyroid9 / 47473189
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord2 / 13680146
uterus24 / 232878103
vascular6 / 51780115
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213069_at
Cell line Expression level Expression bar
721_B_lymphoblasts17.85
Adipocyte50.95
AdrenalCortex11.55
Adrenalgland13.4
Amygdala25.2
Appendix11.5
AtrioventricularNode8.5
BDCA4+_DentriticCells8.5
Bonemarrow10.5
BronchialEpithelialCells16.25
CD105+_Endothelial8.2
CD14+_Monocytes8.9
CD19+_BCells(neg._sel.)8.75
CD33+_Myeloid11.85
CD34+10.55
CD4+_Tcells10.8
CD56+_NKCells118.85
CD71+_EarlyErythroid9.25
CD8+_Tcells11.35
CardiacMyocytes148.65
Caudatenucleus12.15
Cerebellum8.75
CerebellumPeduncles11
CiliaryGanglion7.65
CingulateCortex16.2
Colorectaladenocarcinoma52.75
DorsalRootGanglion8.15
FetalThyroid55.55
Fetalbrain10.25
Fetalliver9.3
Fetallung72.2
GlobusPallidus7.75
Heart37.4
Hypothalamus36.65
Kidney15.05
Leukemia_chronicMyelogenousK-5627.55
Leukemia_promyelocytic-HL-6012
Leukemialymphoblastic(MOLT-4)7.6
Liver13.25
Lung241.6
Lymphnode28.9
Lymphoma_burkitts(Daudi)10.95
Lymphoma_burkitts(Raji)19.8
MedullaOblongata10
OccipitalLobe12.7
OlfactoryBulb10.45
Ovary7.1
Pancreas7.65
PancreaticIslet10.45
ParietalLobe11.05
Pituitary11.05
Placenta82.65
Pons10.1
PrefrontalCortex14.05
Prostate18.55
Salivarygland10.15
SkeletalMuscle12.4
Skin8.45
SmoothMuscle364.7
Spinalcord32.45
SubthalamicNucleus8.55
SuperiorCervicalGanglion12.5
TemporalLobe8.25
Testis26.55
TestisGermCell34.55
TestisIntersitial8.95
TestisLeydigCell10.6
TestisSeminiferousTubule11.85
Thalamus11.95
Thymus15.85
Thyroid237.15
Tongue10.65
Tonsil11.1
Trachea18.65
TrigeminalGanglion10.95
Uterus43.35
UterusCorpus9.95
WholeBlood10.95
Wholebrain15.6
colon28.15
pineal_day291.1
pineal_night355.62
retina394.575
small_intestine94.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P85300
  • 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
Amygdala3.28 ± 0.96
Basal Forebrain3.21 ± 0.56
Basal Part of Pons3.19 ± 0.87
Cerebellar Cortex2.68 ± 0.55
Cerebellar Nuclei4 ± 0.56
Claustrum3.42 ± 1.15
Epithalamus3.39 ± 0.56
Frontal Lobe3.25 ± 0.75
Globus Pallidus4.85 ± 0.42
Hypothalamus3.02 ± 0.87
Insula3.16 ± 0.68
Limbic Lobe3.21 ± 0.81
Mesencephalon3.47 ± 0.67
Myelencephalon3.38 ± 0.84
Occipital Lobe3.63 ± 0.69
Parietal Lobe3.39 ± 0.91
Pontine Tegmentum3.41 ± 0.89
Striatum4.12 ± 0.58
Subthalamus3.48 ± 0.6
Temporal Lobe3.13 ± 0.86
Thalamus3.64 ± 0.73
White Matter4.7 ± 0.38
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Heg1CBCerebellum21.24
28.27
Heg1CTXCerebral cortex32.68
26.88
Heg1HIPHippocampal region12.33
15.99
Heg1HPFHippocampal formation15.18
15.07
Heg1HYHypothalamus9.6
9.28
Heg1LSXLateral septal complex7.43
5.9
Heg1MBMidbrain14.32
14.7
Heg1MYMedulla23.59
24.78
Heg1OLFOlfactory bulb24.77
20.01
Heg1PPons14.48
13.67
Heg1PALPallidum15.59
16.6
Heg1RHPRetrohippocampal region18.74
13.23
Heg1sAMYStriatum-like amygdalar nuclei14.2
11.01
Heg1STRStriatum17.28
14.52
Heg1STRdStriatum dorsal region15.67
13.13
Heg1STRvStriatum ventral region28.87
24.11
Heg1THThalamus44.79
37.04
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00392797 21 150 170 SHAASDAPENLTLLAETADAR 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


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