AutismKB 2.0

Annotation Detail for HEATR1


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Basic Information Top
Gene Symbol:HEATR1 ( BAP28,FLJ10359,MGC72083 )
Gene Full Name: HEAT repeat containing 1
Band: 1q43
Quick LinksEntrez ID:55127; OMIM: NA; Uniprot ID:HEAT1_HUMAN; ENSEMBL ID: ENSG00000119285; HGNC ID: 25517
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 body1 / 7076114
blastocyst5 / 6231980
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult63 / 193912132
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) tumor4 / 9417842
cervical tumor1 / 3436629
chondrosarcoma5 / 8282360
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor15 / 26384556
glioma1 / 1068839
head and neck tumor7 / 13630251
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor3 / 9635931
lung tumor6 / 10312758
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal103 / 336030730
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor8 / 12494964
soft tissue/muscle tissue tumor2 / 12519115
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 
ascites6 / 40015149
bladder3 / 29757100
blood3 / 12347824
bone3 / 7165541
bone marrow0 / 488010 
brain21 / 110098919
cervix1 / 4817120
connective tissue5 / 14925533
ear2 / 16212123
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye3 / 21105414
heart2 / 8962622
intestine8 / 23447234
kidney5 / 21177723
larynx3 / 24145124
liver4 / 20774319
lung11 / 33697432
lymph1 / 4427022
lymph node6 / 9161065
mammary gland4 / 15327126
mouth3 / 6705244
muscle4 / 10771537
nerve0 / 157680 
ovary1 / 1020519
pancreas1 / 2148124
parathyroid1 / 2053948
pharynx5 / 41328120
pituitary gland0 / 165850 
placenta10 / 28082535
prostate2 / 18934510
salivary gland0 / 201550 
skin8 / 21057437
spleen1 / 5395218
stomach2 / 9661920
testis26 / 33044278
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord2 / 13680146
uterus7 / 23287830
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218595_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts39.3
Adipocyte5.85
AdrenalCortex6.8
Adrenalgland4.6
Amygdala5.25
Appendix6.35
AtrioventricularNode4.4
BDCA4+_DentriticCells10.45
Bonemarrow5.4
BronchialEpithelialCells9.15
CD105+_Endothelial9.35
CD14+_Monocytes5.9
CD19+_BCells(neg._sel.)5.8
CD33+_Myeloid9.3
CD34+15.4
CD4+_Tcells5.9
CD56+_NKCells7.5
CD71+_EarlyErythroid4.95
CD8+_Tcells7.4
CardiacMyocytes8.8
Caudatenucleus4.6
Cerebellum4.25
CerebellumPeduncles6.05
CiliaryGanglion4.35
CingulateCortex5.45
Colorectaladenocarcinoma11.05
DorsalRootGanglion4
FetalThyroid10.95
Fetalbrain7.7
Fetalliver4.95
Fetallung4.45
GlobusPallidus3.7
Heart7.15
Hypothalamus5.6
Kidney4.4
Leukemia_chronicMyelogenousK-56214.1
Leukemia_promyelocytic-HL-605.5
Leukemialymphoblastic(MOLT-4)6.2
Liver7.35
Lung6.2
Lymphnode8.7
Lymphoma_burkitts(Daudi)12.3
Lymphoma_burkitts(Raji)7.95
MedullaOblongata4.8
OccipitalLobe4.7
OlfactoryBulb4.15
Ovary3.65
Pancreas4.5
PancreaticIslet7.65
ParietalLobe5.6
Pituitary6.2
Placenta5.55
Pons4.95
PrefrontalCortex6.45
Prostate7.9
Salivarygland4.45
SkeletalMuscle6.35
Skin4.25
SmoothMuscle10.2
Spinalcord5.75
SubthalamicNucleus4.65
SuperiorCervicalGanglion6.35
TemporalLobe4.75
Testis10.95
TestisGermCell6.85
TestisIntersitial6.55
TestisLeydigCell5.45
TestisSeminiferousTubule9
Thalamus5.25
Thymus7.7
Thyroid6.75
Tongue5.5
Tonsil6.25
Trachea4.55
TrigeminalGanglion5.7
Uterus6.35
UterusCorpus5
WholeBlood6.05
Wholebrain4.2
colon5.55
pineal_day6.36
pineal_night6.4
retina6.525
small_intestine5.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_711_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
Amygdala6.06 ± 0.56
Basal Forebrain5.68 ± 0.28
Basal Part of Pons5.61 ± 0.76
Cerebellar Cortex5.43 ± 0.42
Cerebellar Nuclei5.41 ± 0.37
Claustrum6.15 ± 0.66
Epithalamus5.3 ± 0.37
Frontal Lobe5.26 ± 0.52
Globus Pallidus6.49 ± 0.35
Hypothalamus5.13 ± 0.58
Insula5.29 ± 0.47
Limbic Lobe5.76 ± 0.61
Mesencephalon5.65 ± 0.62
Myelencephalon5.65 ± 0.58
Occipital Lobe5.94 ± 0.49
Parietal Lobe5.66 ± 0.51
Pontine Tegmentum5.53 ± 0.61
Striatum5.91 ± 0.58
Subthalamus5.56 ± 0.89
Temporal Lobe5.54 ± 0.6
Thalamus5.4 ± 0.44
White Matter6.82 ± 0.49
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Heatr1CBCerebellum12.61
13.97
Heatr1CTXCerebral cortex44.79
32.17
Heatr1HIPHippocampal region41.22
41.12
Heatr1HPFHippocampal formation42.12
38.16
Heatr1HYHypothalamus34.07
25.75
Heatr1LSXLateral septal complex80.7
55.49
Heatr1MBMidbrain17.62
15.72
Heatr1MYMedulla19.31
21.5
Heatr1OLFOlfactory bulb57.35
43.36
Heatr1PPons20.19
22.77
Heatr1PALPallidum27.31
22.82
Heatr1RHPRetrohippocampal region44.41
34.38
Heatr1sAMYStriatum-like amygdalar nuclei36.79
26.55
Heatr1STRStriatum28.76
19.62
Heatr1STRdStriatum dorsal region18.52
12.29
Heatr1STRvStriatum ventral region38.8
25.81
Heatr1THThalamus21.57
16.52
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
HEAT1_HUMAN_1 10 1 10 MTSLAQQLQR PRIDE
HEAT1_HUMAN_2 9 2 10 TSLAQQLQR PRIDE
PAp00010313 9 176 184 GTLITHCYK 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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