AutismKB 2.0

Annotation Detail for ITCH


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Basic Information Top
Gene Symbol:ITCH ( AIF4,AIP4,NAPP1,dJ468O1.1 )
Gene Full Name: itchy E3 ubiquitin protein ligase homolog (mouse)
Band: 20q11.22
Quick LinksEntrez ID:83737; OMIM: 606409; Uniprot ID:ITCH_HUMAN; ENSEMBL ID: ENSG00000078747; HGNC ID: 13890
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 body3 / 7076142
blastocyst3 / 6231948
fetus22 / 56401239
neonate1 / 3109732
infant0 / 236200 
juvenile2 / 5555635
adult101 / 193912152
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor14 / 94178148
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor16 / 114246140
esophageal tumor6 / 17290347
gastrointestinal tumor3 / 11936925
germ cell tumor18 / 26384568
glioma3 / 10688328
head and neck tumor19 / 136302139
kidney tumor2 / 6895929
leukemia4 / 9584241
liver tumor1 / 9635910
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal141 / 336030741
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood5 / 12347840
bone2 / 7165527
bone marrow0 / 488010 
brain34 / 110098930
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus6 / 20209296
eye4 / 21105418
heart2 / 8962622
intestine19 / 23447281
kidney11 / 21177751
larynx4 / 24145165
liver13 / 20774362
lung17 / 33697450
lymph0 / 442700 
lymph node2 / 9161021
mammary gland16 / 153271104
mouth13 / 67052193
muscle13 / 107715120
nerve0 / 157680 
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta14 / 28082549
prostate3 / 18934515
salivary gland0 / 201550 
skin4 / 21057418
spleen1 / 5395218
stomach3 / 9661931
testis28 / 33044284
thymus6 / 8113173
thyroid2 / 4747342
tonsil0 / 169990 
trachea11 / 52413209
umbilical cord0 / 136800 
uterus9 / 23287838
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209743_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.55
Adipocyte4.05
AdrenalCortex4.2
Adrenalgland3.4
Amygdala4.2
Appendix4.75
AtrioventricularNode3.05
BDCA4+_DentriticCells11.9
Bonemarrow4.1
BronchialEpithelialCells6.1
CD105+_Endothelial4.15
CD14+_Monocytes4.3
CD19+_BCells(neg._sel.)4.4
CD33+_Myeloid5.6
CD34+4.8
CD4+_Tcells5.15
CD56+_NKCells7.7
CD71+_EarlyErythroid3.9
CD8+_Tcells4.35
CardiacMyocytes5.25
Caudatenucleus3.7
Cerebellum3.35
CerebellumPeduncles4.6
CiliaryGanglion2.85
CingulateCortex4.15
Colorectaladenocarcinoma4.15
DorsalRootGanglion3.2
FetalThyroid4
Fetalbrain4.05
Fetalliver3.55
Fetallung3.35
GlobusPallidus3.6
Heart5.05
Hypothalamus4.35
Kidney3.25
Leukemia_chronicMyelogenousK-5623.7
Leukemia_promyelocytic-HL-603.65
Leukemialymphoblastic(MOLT-4)3.35
Liver5.35
Lung4.5
Lymphnode3.65
Lymphoma_burkitts(Daudi)5.2
Lymphoma_burkitts(Raji)5.8
MedullaOblongata3.75
OccipitalLobe3.65
OlfactoryBulb3.25
Ovary2.7
Pancreas3.25
PancreaticIslet5.75
ParietalLobe4.4
Pituitary4.8
Placenta4.75
Pons3.9
PrefrontalCortex4.85
Prostate4.8
Salivarygland3.15
SkeletalMuscle4.75
Skin3.15
SmoothMuscle4.7
Spinalcord4.35
SubthalamicNucleus3.65
SuperiorCervicalGanglion9.45
TemporalLobe3.65
Testis4.75
TestisGermCell11.35
TestisIntersitial6
TestisLeydigCell8.3
TestisSeminiferousTubule5.55
Thalamus4.1
Thymus3.2
Thyroid4.7
Tongue3.95
Tonsil4
Trachea3.35
TrigeminalGanglion7.65
Uterus3.35
UterusCorpus3.65
WholeBlood5.15
Wholebrain3.45
colon4.15
pineal_day4.92
pineal_night4.76
retina4.75
small_intestine3.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P132019
  • 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
Amygdala7.49 ± 0.35
Basal Forebrain7.47 ± 0.25
Basal Part of Pons7.38 ± 0.19
Cerebellar Cortex7.31 ± 0.26
Cerebellar Nuclei7.9 ± 0.27
Claustrum7.82 ± 0.51
Epithalamus7.38 ± 0.3
Frontal Lobe7.45 ± 0.36
Globus Pallidus8.01 ± 0.17
Hypothalamus7.07 ± 0.26
Insula7.3 ± 0.13
Limbic Lobe7.57 ± 0.31
Mesencephalon7.53 ± 0.37
Myelencephalon7.53 ± 0.33
Occipital Lobe7.77 ± 0.33
Parietal Lobe7.55 ± 0.33
Pontine Tegmentum7.59 ± 0.38
Striatum7.54 ± 0.35
Subthalamus7.83 ± 0.38
Temporal Lobe7.42 ± 0.26
Thalamus7.65 ± 0.29
White Matter8.84 ± 0.23
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
ItchCBCerebellum80.47
100
ItchCTXCerebral cortex57.05
44.46
ItchHIPHippocampal region65.63
100
ItchHPFHippocampal formation56.15
75.11
ItchHYHypothalamus24.5
18.45
ItchLSXLateral septal complex37.74
29.26
ItchMBMidbrain36.52
33.77
ItchMYMedulla24.65
27
ItchOLFOlfactory bulb51.16
46.61
ItchPPons27.47
27.39
ItchPALPallidum22.73
19.36
ItchRHPRetrohippocampal region38.22
29.99
ItchsAMYStriatum-like amygdalar nuclei12.24
8.45
ItchSTRStriatum21.16
16.08
ItchSTRdStriatum dorsal region20.04
15.58
ItchSTRvStriatum ventral region21.46
15.38
ItchTHThalamus48.35
44.11
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00018019 7 827 833 SHTCFNR 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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