AutismKB 2.0

Annotation Detail for ITSN1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:ITSN1 ( ITSN,MGC134948,MGC134949,SH3D1A,SH3P17 )
Gene Full Name: intersectin 1 (SH3 domain protein)
Band: 21q22.11
Quick LinksEntrez ID:6453; OMIM: 602442; Uniprot ID:ITSN1_HUMAN; ENSEMBL ID: ENSG00000205726; HGNC ID: 6183
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 body7 / 7076198
blastocyst8 / 62319128
fetus69 / 564012122
neonate2 / 3109764
infant1 / 2362042
juvenile7 / 55556125
adult104 / 193912153
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) tumor3 / 9417831
cervical tumor2 / 3436658
chondrosarcoma4 / 8282348
colorectal tumor7 / 11424661
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor16 / 26384560
glioma4 / 10688337
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia4 / 9584241
liver tumor7 / 9635972
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal207 / 336030761
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma3 / 4635664
skin tumor1 / 1249498
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood2 / 12347816
bone7 / 7165597
bone marrow2 / 4880140
brain57 / 110098951
cervix2 / 4817141
connective tissue5 / 14925533
ear3 / 16212185
embryonic tissue25 / 215722115
esophagus1 / 2020949
eye16 / 21105475
heart12 / 89626133
intestine8 / 23447234
kidney6 / 21177728
larynx0 / 241450 
liver16 / 20774377
lung10 / 33697429
lymph0 / 442700 
lymph node1 / 9161010
mammary gland11 / 15327171
mouth0 / 670520 
muscle6 / 10771555
nerve3 / 15768190
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta13 / 28082546
prostate1 / 1893455
salivary gland0 / 201550 
skin5 / 21057423
spleen2 / 5395237
stomach1 / 9661910
testis9 / 33044227
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord2 / 13680146
uterus17 / 23287872
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 207322_at
Cell line Expression level Expression bar
721_B_lymphoblasts6
Adipocyte4.75
AdrenalCortex5.4
Adrenalgland4.25
Amygdala5.05
Appendix5.6
AtrioventricularNode4.75
BDCA4+_DentriticCells5.25
Bonemarrow5
BronchialEpithelialCells4.75
CD105+_Endothelial4.9
CD14+_Monocytes5.2
CD19+_BCells(neg._sel.)5.25
CD33+_Myeloid6.1
CD34+5.95
CD4+_Tcells5.1
CD56+_NKCells5.6
CD71+_EarlyErythroid4.65
CD8+_Tcells4.5
CardiacMyocytes6.7
Caudatenucleus4.45
Cerebellum3.95
CerebellumPeduncles5.7
CiliaryGanglion3.7
CingulateCortex5.1
Colorectaladenocarcinoma4.95
DorsalRootGanglion4.05
FetalThyroid4.85
Fetalbrain4.9
Fetalliver4.35
Fetallung3.9
GlobusPallidus3.7
Heart7.55
Hypothalamus5.3
Kidney4.2
Leukemia_chronicMyelogenousK-5624.4
Leukemia_promyelocytic-HL-604.35
Leukemialymphoblastic(MOLT-4)3.9
Liver7.15
Lung5.4
Lymphnode4.2
Lymphoma_burkitts(Daudi)6.4
Lymphoma_burkitts(Raji)7.2
MedullaOblongata4.45
OccipitalLobe4.4
OlfactoryBulb3.85
Ovary3.75
Pancreas4
PancreaticIslet5.3
ParietalLobe5.3
Pituitary5.8
Placenta5.05
Pons4.7
PrefrontalCortex6.05
Prostate5.75
Salivarygland4
SkeletalMuscle6.25
Skin4.4
SmoothMuscle5.45
Spinalcord5.25
SubthalamicNucleus4.55
SuperiorCervicalGanglion7.15
TemporalLobe4.6
Testis4.15
TestisGermCell3.9
TestisIntersitial4.15
TestisLeydigCell5.05
TestisSeminiferousTubule4.2
Thalamus5.05
Thymus3.85
Thyroid6.1
Tongue5
Tonsil4.8
Trachea4.1
TrigeminalGanglion6.35
Uterus3.95
UterusCorpus4.5
WholeBlood5.35
Wholebrain4.1
colon4.95
pineal_day5.98
pineal_night5.98
retina5.95
small_intestine4.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16322_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
Amygdala8 ± 0.23
Basal Forebrain7.87 ± 0.19
Basal Part of Pons8.05 ± 0.21
Cerebellar Cortex8.02 ± 0.14
Cerebellar Nuclei7.92 ± 0.26
Claustrum7.74 ± 0.27
Epithalamus8.08 ± 0.32
Frontal Lobe7.98 ± 0.28
Globus Pallidus7.48 ± 0.29
Hypothalamus7.84 ± 0.2
Insula8.02 ± 0.2
Limbic Lobe7.89 ± 0.21
Mesencephalon7.91 ± 0.33
Myelencephalon7.92 ± 0.28
Occipital Lobe7.94 ± 0.23
Parietal Lobe8.04 ± 0.24
Pontine Tegmentum7.93 ± 0.19
Striatum7.75 ± 0.25
Subthalamus8.08 ± 0.15
Temporal Lobe7.96 ± 0.2
Thalamus8 ± 0.29
White Matter6.8 ± 0.11
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Itsn1CBCerebellum92.29
60.85
Itsn1CTXCerebral cortex97.75
67.51
Itsn1HIPHippocampal region86.17
95.69
Itsn1HPFHippocampal formation97.67
95.59
Itsn1HYHypothalamus100
77.25
Itsn1LSXLateral septal complex75.31
44.12
Itsn1MBMidbrain89.53
74.31
Itsn1MYMedulla85.03
90.22
Itsn1OLFOlfactory bulb100
85.12
Itsn1PPons81.84
86.43
Itsn1PALPallidum76.5
66.68
Itsn1RHPRetrohippocampal region100
93.14
Itsn1sAMYStriatum-like amygdalar nuclei100
64.97
Itsn1STRStriatum50.18
30.05
Itsn1STRdStriatum dorsal region30.91
18.56
Itsn1STRvStriatum ventral region78.34
42.45
Itsn1THThalamus100
92.95
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00504655 23 804 826 IPENEVPAPVKPVTDSTSAPAPK 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