AutismKB 2.0

Annotation Detail for ITK


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ITK ( EMT,LYK,MGC126257,MGC126258,PSCTK2 )
Gene Full Name: IL2-inducible T-cell kinase
Band: 5q33.3
Quick LinksEntrez ID:3702; OMIM: 186973; Uniprot ID:ITK_HUMAN; ENSEMBL ID: ENSG00000113263; HGNC ID: 6171
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 
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult15 / 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 tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia5 / 9584252
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal36 / 336030710
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 tumor4 / 9025744
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 
blood12 / 12347897
bone0 / 716550 
bone marrow0 / 488010 
brain2 / 11009891
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart1 / 8962611
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node2 / 9161021
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta1 / 2808253
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen2 / 5395237
stomach0 / 966190 
testis2 / 3304426
thymus32 / 81131394
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211339_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.7
Adipocyte6.3
AdrenalCortex6.85
Adrenalgland5.05
Amygdala6.4
Appendix6.55
AtrioventricularNode5.2
BDCA4+_DentriticCells6.05
Bonemarrow6.1
BronchialEpithelialCells5.6
CD105+_Endothelial5.75
CD14+_Monocytes5.65
CD19+_BCells(neg._sel.)5.8
CD33+_Myeloid7.2
CD34+6.7
CD4+_Tcells977.45
CD56+_NKCells312.65
CD71+_EarlyErythroid5.25
CD8+_Tcells1017.75
CardiacMyocytes8
Caudatenucleus5.3
Cerebellum4.8
CerebellumPeduncles6.85
CiliaryGanglion4.6
CingulateCortex6.1
Colorectaladenocarcinoma5.85
DorsalRootGanglion4.75
FetalThyroid7.6
Fetalbrain5.85
Fetalliver5.2
Fetallung4.65
GlobusPallidus4.35
Heart8.15
Hypothalamus6.25
Kidney4.75
Leukemia_chronicMyelogenousK-5625.25
Leukemia_promyelocytic-HL-605.2
Leukemialymphoblastic(MOLT-4)60.5
Liver7.8
Lung6.5
Lymphnode27.95
Lymphoma_burkitts(Daudi)7.7
Lymphoma_burkitts(Raji)8.45
MedullaOblongata5.3
OccipitalLobe5.15
OlfactoryBulb4.75
Ovary4.15
Pancreas4.85
PancreaticIslet6.35
ParietalLobe6.3
Pituitary6.8
Placenta5.75
Pons5.7
PrefrontalCortex7.1
Prostate8
Salivarygland5.35
SkeletalMuscle7.3
Skin5
SmoothMuscle6.6
Spinalcord6.3
SubthalamicNucleus5.5
SuperiorCervicalGanglion7.85
TemporalLobe5.45
Testis4.95
TestisGermCell4.8
TestisIntersitial4.95
TestisLeydigCell5.95
TestisSeminiferousTubule5.05
Thalamus6
Thymus128.1
Thyroid7.3
Tongue6
Tonsil13.55
Trachea4.8
TrigeminalGanglion10.05
Uterus4.65
UterusCorpus5.4
WholeBlood80.9
Wholebrain4.9
colon5.95
pineal_day7.08
pineal_night7
retina7.325
small_intestine5.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P354151
  • 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
Amygdala2.34 ± 1.06
Basal Forebrain1.85 ± 0.22
Basal Part of Pons1.48 ± 0.53
Cerebellar Cortex1.71 ± 0.85
Cerebellar Nuclei2.31 ± 0.71
Claustrum2.72 ± 0.82
Epithalamus1.5 ± 0.76
Frontal Lobe1.68 ± 0.67
Globus Pallidus2.61 ± 0.56
Hypothalamus1.96 ± 0.69
Insula1.9 ± 1.22
Limbic Lobe1.89 ± 0.83
Mesencephalon2.03 ± 0.79
Myelencephalon1.88 ± 0.71
Occipital Lobe1.91 ± 0.73
Parietal Lobe1.88 ± 0.79
Pontine Tegmentum2.04 ± 0.75
Striatum2.11 ± 0.63
Subthalamus2.01 ± 0.75
Temporal Lobe1.82 ± 0.75
Thalamus1.79 ± 0.63
White Matter2.24 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
ItkCBCerebellum2.58
3.67
ItkCTXCerebral cortex1.98
2.55
ItkHIPHippocampal region1.14
1.28
ItkHPFHippocampal formation0.91
1.15
ItkHYHypothalamus0.06
0.04
ItkLSXLateral septal complex0
0
ItkMBMidbrain0.4
0.63
ItkMYMedulla4.01
5.21
ItkOLFOlfactory bulb0.59
0.42
ItkPPons0.39
0.59
ItkPALPallidum0.46
1.41
ItkRHPRetrohippocampal region0.6
1
ItksAMYStriatum-like amygdalar nuclei0.28
0.24
ItkSTRStriatum0.87
1.29
ItkSTRdStriatum dorsal region0.94
1.64
ItkSTRvStriatum ventral region1.35
1.32
ItkTHThalamus2.98
4.02
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ITK_HUMAN_611 10 611 620 QLAEIAESGL PRIDE
PAp00043384 23 311 333 YVFDSIPLLINYHQHNGGGLVTR 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