AutismKB 2.0

Annotation Detail for ITPKB


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Basic Information Top
Gene Symbol:ITPKB ( IP3-3KB,IP3K,IP3K-B,IP3KB,PIG37 )
Gene Full Name: inositol 1,4,5-trisphosphate 3-kinase B
Band: 1q42.12
Quick LinksEntrez ID:3707; OMIM: 147522; Uniprot ID:IP3KB_HUMAN; ENSEMBL ID: ENSG00000143772; HGNC ID: 6179
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 body0 / 707610 
blastocyst0 / 623190 
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult15 / 19391217
embryoid body0 / 707610 
blastocyst1 / 6231916
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult68 / 193912135
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 tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor4 / 13630229
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal14 / 33603074
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor8 / 26384530
glioma5 / 10688346
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma5 / 7175569
non-neoplasia1 / 9725010
normal105 / 336030731
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor17 / 124949136
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain4 / 11009893
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine8 / 23447234
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node3 / 9161032
mammary gland0 / 1532710 
mouth2 / 6705229
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate1 / 1893455
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis0 / 3304420 
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone4 / 7165555
bone marrow1 / 4880120
brain44 / 110098939
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye14 / 21105466
heart2 / 8962622
intestine2 / 2344728
kidney2 / 2117779
larynx1 / 2414541
liver0 / 2077430 
lung7 / 33697420
lymph3 / 4427067
lymph node28 / 91610305
mammary gland3 / 15327119
mouth1 / 6705214
muscle1 / 1077159
nerve2 / 15768126
ovary8 / 10205178
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate6 / 18934531
salivary gland0 / 201550 
skin18 / 21057485
spleen0 / 539520 
stomach3 / 9661931
testis3 / 3304429
thymus0 / 811310 
thyroid1 / 4747321
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203723_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.15
Adipocyte11.9
AdrenalCortex10.4
Adrenalgland10.55
Amygdala72.7
Appendix11
AtrioventricularNode9.5
BDCA4+_DentriticCells13.95
Bonemarrow12.65
BronchialEpithelialCells7.35
CD105+_Endothelial12.95
CD14+_Monocytes15.8
CD19+_BCells(neg._sel.)24.35
CD33+_Myeloid17.05
CD34+17.45
CD4+_Tcells219.6
CD56+_NKCells132.55
CD71+_EarlyErythroid7.6
CD8+_Tcells266.1
CardiacMyocytes13.7
Caudatenucleus59.75
Cerebellum34.3
CerebellumPeduncles20.45
CiliaryGanglion6.75
CingulateCortex20.1
Colorectaladenocarcinoma10.65
DorsalRootGanglion7.85
FetalThyroid10.35
Fetalbrain11
Fetalliver11.05
Fetallung17.25
GlobusPallidus14.9
Heart17.05
Hypothalamus196.7
Kidney17.75
Leukemia_chronicMyelogenousK-5627.9
Leukemia_promyelocytic-HL-607.8
Leukemialymphoblastic(MOLT-4)8.6
Liver16.45
Lung20.2
Lymphnode22.35
Lymphoma_burkitts(Daudi)17.05
Lymphoma_burkitts(Raji)19.75
MedullaOblongata28.4
OccipitalLobe33.05
OlfactoryBulb126.85
Ovary5.8
Pancreas7.15
PancreaticIslet13.45
ParietalLobe34.7
Pituitary11.8
Placenta16.25
Pons13.4
PrefrontalCortex236.4
Prostate27.5
Salivarygland10.2
SkeletalMuscle12
Skin6.7
SmoothMuscle10.45
Spinalcord237.45
SubthalamicNucleus25.15
SuperiorCervicalGanglion13.45
TemporalLobe23.3
Testis11.1
TestisGermCell7.3
TestisIntersitial9.45
TestisLeydigCell7.8
TestisSeminiferousTubule9.8
Thalamus231.05
Thymus255.9
Thyroid12.45
Tongue8.5
Tonsil20.45
Trachea15.1
TrigeminalGanglion10.8
Uterus39.15
UterusCorpus12.75
WholeBlood107.4
Wholebrain117.7
colon15.3
pineal_day22.98
pineal_night18.24
retina514.625
small_intestine16.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_7737_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
Amygdala5.12 ± 0.68
Basal Forebrain5.75 ± 0.23
Basal Part of Pons5.11 ± 0.37
Cerebellar Cortex5.09 ± 0.28
Cerebellar Nuclei5.88 ± 0.5
Claustrum5.43 ± 0.34
Epithalamus6.07 ± 0.45
Frontal Lobe5.35 ± 0.49
Globus Pallidus7.29 ± 0.56
Hypothalamus5.18 ± 0.51
Insula5.26 ± 0.33
Limbic Lobe5.18 ± 0.64
Mesencephalon5.67 ± 0.56
Myelencephalon5.57 ± 0.51
Occipital Lobe5.64 ± 0.51
Parietal Lobe5.45 ± 0.51
Pontine Tegmentum5.56 ± 0.49
Striatum5.94 ± 0.52
Subthalamus5.42 ± 0.22
Temporal Lobe5.24 ± 0.45
Thalamus5.76 ± 0.41
White Matter6.79 ± 0.3
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
ItpkbCBCerebellum9.94
13.5
ItpkbCTXCerebral cortex5.7
5.02
ItpkbHIPHippocampal region5.6
7.27
ItpkbHPFHippocampal formation3.89
4.69
ItpkbHYHypothalamus3.77
3.32
ItpkbLSXLateral septal complex3.19
3.37
ItpkbMBMidbrain5.92
5.75
ItpkbMYMedulla11.77
12.5
ItpkbOLFOlfactory bulb6.37
5.42
ItpkbPPons9.36
10.13
ItpkbPALPallidum3.14
3.06
ItpkbRHPRetrohippocampal region1.38
1.46
ItpkbsAMYStriatum-like amygdalar nuclei1.13
1.22
ItpkbSTRStriatum2.53
2.5
ItpkbSTRdStriatum dorsal region2.09
2.49
ItpkbSTRvStriatum ventral region4.44
2.85
ItpkbTHThalamus5.85
5.48
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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