AutismKB 2.0

Annotation Detail for ITPKA


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Basic Information Top
Gene Symbol:ITPKA ( IP3-3KA,IP3KA )
Gene Full Name: inositol 1,4,5-trisphosphate 3-kinase A
Band: 15q15.1
Quick LinksEntrez ID:3706; OMIM: 147521; Uniprot ID:IP3KA_HUMAN; ENSEMBL ID: ENSG00000137825; HGNC ID: 6178
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 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult14 / 19391217
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 tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor5 / 26384518
glioma2 / 10688318
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal12 / 33603073
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain17 / 110098915
cervix1 / 4817120
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine2 / 2344728
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta3 / 28082510
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach2 / 9661920
testis5 / 33044215
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205874_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.5
Adipocyte3.7
AdrenalCortex3.95
Adrenalgland3.15
Amygdala9.55
Appendix3.75
AtrioventricularNode3.25
BDCA4+_DentriticCells3.85
Bonemarrow3.65
BronchialEpithelialCells3.6
CD105+_Endothelial3.65
CD14+_Monocytes4
CD19+_BCells(neg._sel.)3.95
CD33+_Myeloid4.75
CD34+4.75
CD4+_Tcells3.9
CD56+_NKCells4.45
CD71+_EarlyErythroid3.5
CD8+_Tcells3.4
CardiacMyocytes4.75
Caudatenucleus13.15
Cerebellum3.7
CerebellumPeduncles4.45
CiliaryGanglion2.75
CingulateCortex15.65
Colorectaladenocarcinoma10.5
DorsalRootGanglion2.95
FetalThyroid3.6
Fetalbrain3.7
Fetalliver3.2
Fetallung2.95
GlobusPallidus3.95
Heart5
Hypothalamus4.05
Kidney3.05
Leukemia_chronicMyelogenousK-5623.35
Leukemia_promyelocytic-HL-603.3
Leukemialymphoblastic(MOLT-4)2.95
Liver5.1
Lung4.1
Lymphnode3.15
Lymphoma_burkitts(Daudi)4.75
Lymphoma_burkitts(Raji)5.2
MedullaOblongata7.55
OccipitalLobe10.3
OlfactoryBulb2.95
Ovary2.5
Pancreas3
PancreaticIslet3.95
ParietalLobe5.95
Pituitary4.35
Placenta3.7
Pons12.3
PrefrontalCortex17.2
Prostate4.3
Salivarygland3
SkeletalMuscle4.6
Skin2.95
SmoothMuscle4.2
Spinalcord4
SubthalamicNucleus10.15
SuperiorCervicalGanglion4.2
TemporalLobe23.25
Testis3.2
TestisGermCell3
TestisIntersitial3.1
TestisLeydigCell3.65
TestisSeminiferousTubule3.2
Thalamus3.8
Thymus2.85
Thyroid4.55
Tongue3.65
Tonsil3.6
Trachea3.1
TrigeminalGanglion4.3
Uterus2.95
UterusCorpus3.35
WholeBlood4.05
Wholebrain124.85
colon3.75
pineal_day4.62
pineal_night4.48
retina4.45
small_intestine3.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_9080_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
Amygdala5.29 ± 0.85
Basal Forebrain4.55 ± 0.83
Basal Part of Pons4.36 ± 0.44
Cerebellar Cortex4.94 ± 0.56
Cerebellar Nuclei4.49 ± 0.64
Claustrum4.6 ± 1.52
Epithalamus3.95 ± 0.94
Frontal Lobe5.38 ± 0.84
Globus Pallidus2.12 ± 0.99
Hypothalamus4.17 ± 0.69
Insula5.52 ± 0.36
Limbic Lobe5.13 ± 1.17
Mesencephalon4.84 ± 1.17
Myelencephalon4.83 ± 0.85
Occipital Lobe3.91 ± 1.49
Parietal Lobe5.07 ± 0.92
Pontine Tegmentum4.81 ± 0.73
Striatum4.38 ± 1.21
Subthalamus4.48 ± 0.83
Temporal Lobe5.49 ± 0.83
Thalamus4.15 ± 0.82
White Matter2.09 ± 0.52
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
ItpkaCBCerebellum14.16
100
ItpkaCTXCerebral cortex100
100
ItpkaHIPHippocampal region100
100
ItpkaHPFHippocampal formation100
100
ItpkaHYHypothalamus12.58
13.99
ItpkaLSXLateral septal complex89.84
100
ItpkaMBMidbrain7.91
9.51
ItpkaMYMedulla10.58
15.09
ItpkaOLFOlfactory bulb58.67
100
ItpkaPPons5.35
7.08
ItpkaPALPallidum18.12
20.43
ItpkaRHPRetrohippocampal region100
100
ItpkasAMYStriatum-like amygdalar nuclei70.04
95.91
ItpkaSTRStriatum100
100
ItpkaSTRdStriatum dorsal region100
100
ItpkaSTRvStriatum ventral region100
100
ItpkaTHThalamus42.7
63.86
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
IP3KA_HUMAN_2 11 2 12 TLPGGPTGMAR PRIDE
IP3KA_HUMAN_42 14 42 55 CAAVAAAAAAGEPR PRIDE

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