AutismKB 2.0

Annotation Detail for ITSN2


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Basic Information Top
Gene Symbol:ITSN2 ( KIAA1256,PRO2015,SH3D1B,SH3P18,SWA,SWAP )
Gene Full Name: intersectin 2
Band: 2p23.3
Quick LinksEntrez ID:50618; OMIM: 604464; Uniprot ID:ITSN2_HUMAN; ENSEMBL ID: ENSG00000198399; HGNC ID: 6184
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
fetus37 / 56401265
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult92 / 193912147
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor7 / 11936958
germ cell tumor10 / 26384537
glioma3 / 10688328
head and neck tumor11 / 13630280
kidney tumor0 / 689590 
leukemia3 / 9584231
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma6 / 7175583
non-neoplasia6 / 9725061
normal181 / 336030753
ovarian tumor5 / 7668265
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer3 / 10268029
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites0 / 400150 
bladder2 / 2975767
blood3 / 12347824
bone5 / 7165569
bone marrow3 / 4880161
brain20 / 110098918
cervix1 / 4817120
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus1 / 2020949
eye6 / 21105428
heart3 / 8962633
intestine8 / 23447234
kidney7 / 21177733
larynx1 / 2414541
liver9 / 20774343
lung13 / 33697438
lymph1 / 4427022
lymph node29 / 91610316
mammary gland5 / 15327132
mouth4 / 6705259
muscle6 / 10771555
nerve1 / 1576863
ovary6 / 10205158
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta8 / 28082528
prostate9 / 18934547
salivary gland0 / 201550 
skin21 / 21057499
spleen3 / 5395255
stomach8 / 9661982
testis2 / 3304426
thymus5 / 8113161
thyroid7 / 47473147
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus12 / 23287851
vascular2 / 5178038
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209907_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts14.55
Adipocyte4
AdrenalCortex4.25
Adrenalgland3.5
Amygdala4.35
Appendix8
AtrioventricularNode3.1
BDCA4+_DentriticCells25.25
Bonemarrow4.1
BronchialEpithelialCells3.95
CD105+_Endothelial4.55
CD14+_Monocytes17.8
CD19+_BCells(neg._sel.)66.75
CD33+_Myeloid87.8
CD34+26.05
CD4+_Tcells40.55
CD56+_NKCells30.95
CD71+_EarlyErythroid3.6
CD8+_Tcells40.35
CardiacMyocytes5
Caudatenucleus3.75
Cerebellum3.35
CerebellumPeduncles4.7
CiliaryGanglion2.85
CingulateCortex4.25
Colorectaladenocarcinoma4.25
DorsalRootGanglion3.1
FetalThyroid19.55
Fetalbrain4.25
Fetalliver3.6
Fetallung4.5
GlobusPallidus3
Heart5.2
Hypothalamus4.65
Kidney3.35
Leukemia_chronicMyelogenousK-5623.8
Leukemia_promyelocytic-HL-604.6
Leukemialymphoblastic(MOLT-4)3.35
Liver5.35
Lung4.65
Lymphnode8.5
Lymphoma_burkitts(Daudi)8.45
Lymphoma_burkitts(Raji)5.8
MedullaOblongata3.95
OccipitalLobe3.8
OlfactoryBulb3.35
Ovary2.75
Pancreas3.35
PancreaticIslet5.15
ParietalLobe4.35
Pituitary4.95
Placenta4.1
Pons4
PrefrontalCortex5.4
Prostate4.95
Salivarygland3.65
SkeletalMuscle4.6
Skin3.15
SmoothMuscle4.7
Spinalcord4.7
SubthalamicNucleus3.75
SuperiorCervicalGanglion4.75
TemporalLobe3.8
Testis3.55
TestisGermCell3.6
TestisIntersitial3.45
TestisLeydigCell4.05
TestisSeminiferousTubule3.45
Thalamus4.25
Thymus3.45
Thyroid8.75
Tongue4.05
Tonsil12.35
Trachea3.35
TrigeminalGanglion4.45
Uterus4.05
UterusCorpus3.7
WholeBlood12.7
Wholebrain3.45
colon4.2
pineal_day8.22
pineal_night7.94
retina5.1
small_intestine3.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P434347
  • 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
Amygdala6.31 ± 0.19
Basal Forebrain6.36 ± 0.25
Basal Part of Pons6.38 ± 0.32
Cerebellar Cortex6.45 ± 0.28
Cerebellar Nuclei6.28 ± 0.28
Claustrum6.28 ± 0.42
Epithalamus6.33 ± 0.25
Frontal Lobe6.36 ± 0.34
Globus Pallidus6.39 ± 0.34
Hypothalamus6.28 ± 0.18
Insula6.29 ± 0.36
Limbic Lobe6.35 ± 0.32
Mesencephalon6.49 ± 0.32
Myelencephalon6.41 ± 0.33
Occipital Lobe6.76 ± 0.31
Parietal Lobe6.48 ± 0.24
Pontine Tegmentum6.46 ± 0.36
Striatum6.35 ± 0.36
Subthalamus6.33 ± 0.29
Temporal Lobe6.42 ± 0.3
Thalamus6.77 ± 0.33
White Matter7.14 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Itsn2CBCerebellum9.44
9.91
Itsn2CTXCerebral cortex24.71
17.22
Itsn2HIPHippocampal region13.42
11.91
Itsn2HPFHippocampal formation15.34
12.61
Itsn2HYHypothalamus1.81
1.28
Itsn2LSXLateral septal complex5.16
3.64
Itsn2MBMidbrain4.92
4.51
Itsn2MYMedulla12.52
14.08
Itsn2OLFOlfactory bulb24.38
18.47
Itsn2PPons7.19
7.91
Itsn2PALPallidum4.24
3.5
Itsn2RHPRetrohippocampal region17.75
12.98
Itsn2sAMYStriatum-like amygdalar nuclei4.56
3.04
Itsn2STRStriatum4.67
3.22
Itsn2STRdStriatum dorsal region4.19
2.96
Itsn2STRvStriatum ventral region4.86
3.01
Itsn2THThalamus4.89
3.66
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ITSN2_HUMAN_104 12 104 115 QPPMFSPLISAR PRIDE
PAp00063362 19 314 332 AGQPLPLTLPPELVPPSFR 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