AutismKB 2.0

Annotation Detail for ITPR1


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Basic Information Top
Gene Symbol:ITPR1 ( DKFZp313E1334,DKFZp313N1434,INSP3R1,IP3R,IP3R1,SCA15,SCA16 )
Gene Full Name: inositol 1,4,5-triphosphate receptor, type 1
Band: 3p26.1
Quick LinksEntrez ID:3708; OMIM: 147265; Uniprot ID:ITPR1_HUMAN; ENSEMBL ID: ENSG00000150995; HGNC ID: 6180
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
blastocyst1 / 6231916
fetus16 / 56401228
neonate0 / 310970 
infant3 / 23620127
juvenile1 / 5555617
adult102 / 193912152
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 tumor3 / 3436687
chondrosarcoma8 / 8282396
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor4 / 13630229
kidney tumor3 / 6895943
leukemia3 / 9584231
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal186 / 336030755
ovarian tumor3 / 7668239
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor6 / 12494948
soft tissue/muscle tissue tumor14 / 125191111
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites0 / 400150 
bladder1 / 2975733
blood1 / 1234788
bone4 / 7165555
bone marrow2 / 4880140
brain90 / 110098981
cervix3 / 4817162
connective tissue19 / 149255127
ear1 / 1621261
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye9 / 21105442
heart1 / 8962611
intestine2 / 2344728
kidney13 / 21177761
larynx0 / 241450 
liver10 / 20774348
lung16 / 33697447
lymph0 / 442700 
lymph node15 / 91610163
mammary gland1 / 1532716
mouth1 / 6705214
muscle7 / 10771564
nerve3 / 15768190
ovary3 / 10205129
pancreas4 / 21481218
parathyroid5 / 20539243
pharynx0 / 413280 
pituitary gland3 / 16585180
placenta7 / 28082524
prostate8 / 18934542
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus5 / 8113161
thyroid4 / 4747384
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus24 / 232878103
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211323_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts19.45
Adipocyte15.75
AdrenalCortex15.1
Adrenalgland9.65
Amygdala15.95
Appendix11.5
AtrioventricularNode7.85
BDCA4+_DentriticCells43.1
Bonemarrow10.25
BronchialEpithelialCells10.6
CD105+_Endothelial8.8
CD14+_Monocytes11.7
CD19+_BCells(neg._sel.)110.75
CD33+_Myeloid20.05
CD34+14.1
CD4+_Tcells11.3
CD56+_NKCells10.95
CD71+_EarlyErythroid7.45
CD8+_Tcells13.8
CardiacMyocytes13.45
Caudatenucleus46.55
Cerebellum122.4
CerebellumPeduncles51.55
CiliaryGanglion7.35
CingulateCortex33.4
Colorectaladenocarcinoma8.75
DorsalRootGanglion8
FetalThyroid11.6
Fetalbrain11.05
Fetalliver8.95
Fetallung8.25
GlobusPallidus33.55
Heart13.4
Hypothalamus11.15
Kidney8.45
Leukemia_chronicMyelogenousK-5629.3
Leukemia_promyelocytic-HL-609
Leukemialymphoblastic(MOLT-4)8.25
Liver14.9
Lung10.1
Lymphnode8.8
Lymphoma_burkitts(Daudi)13.15
Lymphoma_burkitts(Raji)14.45
MedullaOblongata52.75
OccipitalLobe64.8
OlfactoryBulb8.05
Ovary16.8
Pancreas8.4
PancreaticIslet10.85
ParietalLobe60.95
Pituitary49.55
Placenta9.35
Pons45.6
PrefrontalCortex58.4
Prostate11.4
Salivarygland8.55
SkeletalMuscle12.15
Skin8
SmoothMuscle11.65
Spinalcord11
SubthalamicNucleus63.35
SuperiorCervicalGanglion11.6
TemporalLobe40.8
Testis8.4
TestisGermCell10.45
TestisIntersitial8.7
TestisLeydigCell10.2
TestisSeminiferousTubule8.8
Thalamus15.05
Thymus7.2
Thyroid14.35
Tongue10.2
Tonsil12.9
Trachea8.65
TrigeminalGanglion10.4
Uterus22.95
UterusCorpus9.85
WholeBlood11.95
Wholebrain20.3
colon9.95
pineal_day71.06
pineal_night42.62
retina35.1
small_intestine9.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P92042
  • 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
Amygdala8.9 ± 0.58
Basal Forebrain8.46 ± 0.56
Basal Part of Pons8.32 ± 0.36
Cerebellar Cortex9.86 ± 0.22
Cerebellar Nuclei8.39 ± 0.52
Claustrum9.51 ± 0.64
Epithalamus9.01 ± 0.43
Frontal Lobe9.5 ± 0.54
Globus Pallidus6.8 ± 0.77
Hypothalamus8.57 ± 0.5
Insula9.37 ± 0.29
Limbic Lobe9.15 ± 0.94
Mesencephalon9.37 ± 0.7
Myelencephalon9.2 ± 0.63
Occipital Lobe9.31 ± 0.71
Parietal Lobe9.69 ± 0.56
Pontine Tegmentum9.31 ± 0.57
Striatum9.1 ± 0.76
Subthalamus9 ± 0.33
Temporal Lobe9.29 ± 0.54
Thalamus9.31 ± 0.53
White Matter6.68 ± 0.46
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Itpr1CBCerebellum97.89
100
Itpr1CTXCerebral cortex100
100
Itpr1HIPHippocampal region79.1
100
Itpr1HPFHippocampal formation82.37
100
Itpr1HYHypothalamus13.18
11.71
Itpr1LSXLateral septal complex65.41
66.32
Itpr1MBMidbrain33.96
34.37
Itpr1MYMedulla24.3
32.79
Itpr1OLFOlfactory bulb78.4
86.11
Itpr1PPons20.47
23.67
Itpr1PALPallidum21.27
22.77
Itpr1RHPRetrohippocampal region87.24
95.63
Itpr1sAMYStriatum-like amygdalar nuclei42.11
39.27
Itpr1STRStriatum100
100
Itpr1STRdStriatum dorsal region100
100
Itpr1STRvStriatum ventral region100
100
Itpr1THThalamus51.7
56.19
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001239 12 1397 1408 CNSLLPLDDIVR 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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