AutismKB 2.0

Annotation Detail for HEATR2


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Basic Information Top
Gene Symbol:HEATR2 ( FLJ20397,FLJ25564,FLJ31671,FLJ39381 )
Gene Full Name: HEAT repeat containing 2
Band: 7p22.3
Quick LinksEntrez ID:54919; OMIM: NA; Uniprot ID:HEAT2_HUMAN; ENSEMBL ID: ENSG00000164818; HGNC ID:
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 body3 / 7076142
blastocyst4 / 6231964
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult55 / 193912128
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor11 / 26384541
glioma6 / 10688356
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia7 / 9584273
liver tumor3 / 9635931
lung tumor3 / 10312729
lymphoma1 / 7175513
non-neoplasia5 / 9725051
normal107 / 336030731
ovarian tumor1 / 7668213
pancreatic tumor12 / 104616114
primitive neuroectodermal tumor of the CNS15 / 125680119
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor8 / 12494964
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder0 / 297570 
blood1 / 1234788
bone2 / 7165527
bone marrow6 / 48801122
brain31 / 110098928
cervix3 / 4817162
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye18 / 21105485
heart5 / 8962655
intestine8 / 23447234
kidney6 / 21177728
larynx0 / 241450 
liver4 / 20774319
lung8 / 33697423
lymph1 / 4427022
lymph node4 / 9161043
mammary gland2 / 15327113
mouth1 / 6705214
muscle2 / 10771518
nerve1 / 1576863
ovary3 / 10205129
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta9 / 28082532
prostate4 / 18934521
salivary gland0 / 201550 
skin15 / 21057471
spleen0 / 539520 
stomach2 / 9661920
testis10 / 33044230
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular1 / 5178019
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218460_at
Cell line Expression level Expression bar
721_B_lymphoblasts91.95
Adipocyte42.35
AdrenalCortex43.8
Adrenalgland36.55
Amygdala43.45
Appendix52.4
AtrioventricularNode33.7
BDCA4+_DentriticCells45.1
Bonemarrow49.2
BronchialEpithelialCells104.1
CD105+_Endothelial129.15
CD14+_Monocytes40.8
CD19+_BCells(neg._sel.)42.2
CD33+_Myeloid49.45
CD34+70.8
CD4+_Tcells47.1
CD56+_NKCells38.95
CD71+_EarlyErythroid38.5
CD8+_Tcells30.15
CardiacMyocytes53.2
Caudatenucleus38.6
Cerebellum35.7
CerebellumPeduncles48.8
CiliaryGanglion32.75
CingulateCortex42.65
Colorectaladenocarcinoma85.7
DorsalRootGanglion33.15
FetalThyroid46.2
Fetalbrain43.3
Fetalliver46.9
Fetallung37.45
GlobusPallidus30.6
Heart71.1
Hypothalamus47.15
Kidney35
Leukemia_chronicMyelogenousK-56268.75
Leukemia_promyelocytic-HL-6059.05
Leukemialymphoblastic(MOLT-4)37.2
Liver58.2
Lung65.8
Lymphnode43.7
Lymphoma_burkitts(Daudi)117.3
Lymphoma_burkitts(Raji)105.2
MedullaOblongata39.45
OccipitalLobe35.5
OlfactoryBulb34.9
Ovary28.7
Pancreas34.5
PancreaticIslet51.1
ParietalLobe44.45
Pituitary72.45
Placenta47.6
Pons40.9
PrefrontalCortex53.85
Prostate69.35
Salivarygland37.2
SkeletalMuscle49.1
Skin33.7
SmoothMuscle48.3
Spinalcord45.5
SubthalamicNucleus39.5
SuperiorCervicalGanglion52.05
TemporalLobe40.05
Testis49.05
TestisGermCell36.4
TestisIntersitial30.95
TestisLeydigCell42.45
TestisSeminiferousTubule40.75
Thalamus43.25
Thymus57.5
Thyroid61.55
Tongue43
Tonsil44.5
Trachea35.95
TrigeminalGanglion48.7
Uterus43.3
UterusCorpus39.15
WholeBlood35.5
Wholebrain39.95
colon43.55
pineal_day26.78
pineal_night27.38
retina54.85
small_intestine42
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1897_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
Amygdala4.64 ± 0.67
Basal Forebrain4.3 ± 0.57
Basal Part of Pons4.04 ± 0.49
Cerebellar Cortex4.04 ± 0.54
Cerebellar Nuclei3.62 ± 0.69
Claustrum4.46 ± 0.63
Epithalamus4.99 ± 0.69
Frontal Lobe3.85 ± 0.64
Globus Pallidus4.83 ± 0.56
Hypothalamus4.07 ± 0.51
Insula3.95 ± 0.73
Limbic Lobe4.35 ± 0.55
Mesencephalon4.16 ± 0.63
Myelencephalon4.21 ± 0.61
Occipital Lobe4.65 ± 0.6
Parietal Lobe4.21 ± 0.53
Pontine Tegmentum4.23 ± 0.67
Striatum4.64 ± 0.46
Subthalamus3.59 ± 0.23
Temporal Lobe4.13 ± 0.53
Thalamus4.29 ± 0.45
White Matter5.34 ± 0.59
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Heatr2CBCerebellum27.89
30.41
Heatr2CTXCerebral cortex73.35
50.37
Heatr2HIPHippocampal region42.81
50.84
Heatr2HPFHippocampal formation47.16
47.02
Heatr2HYHypothalamus27.38
22.84
Heatr2LSXLateral septal complex18.25
12.21
Heatr2MBMidbrain23.51
20.38
Heatr2MYMedulla33.58
35.25
Heatr2OLFOlfactory bulb74.01
59.05
Heatr2PPons29.19
31
Heatr2PALPallidum18.79
15.95
Heatr2RHPRetrohippocampal region58.74
43.53
Heatr2sAMYStriatum-like amygdalar nuclei20.81
14.18
Heatr2STRStriatum22.02
15.85
Heatr2STRdStriatum dorsal region15.8
11.44
Heatr2STRvStriatum ventral region43.34
29.7
Heatr2THThalamus29.29
23.38
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
HEAT2_HUMAN_2 28 2 29 AALGVAEAVAAPHPAEGAETAEAVELSR PRIDE
PAp00063577 20 56 75 ALEEPGPAADPTAFQGPWAR 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