AutismKB 2.0

Annotation Detail for IRS1


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Basic Information Top
Gene Symbol:IRS1 ( HIRS-1 )
Gene Full Name: insulin receptor substrate 1
Band: 2q36.3
Quick LinksEntrez ID:3667; OMIM: 147545; Uniprot ID:IRS1_HUMAN; ENSEMBL ID: ENSG00000169047; HGNC ID: 6125
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 body8 / 70761113
blastocyst4 / 6231964
fetus16 / 56401228
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult87 / 193912144
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor5 / 26384518
glioma3 / 10688328
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor4 / 9635941
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal79 / 336030723
ovarian tumor4 / 7668252
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor46 / 125191367
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone3 / 7165541
bone marrow0 / 488010 
brain14 / 110098912
cervix0 / 481710 
connective tissue46 / 149255308
ear1 / 1621261
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye5 / 21105423
heart1 / 8962611
intestine4 / 23447217
kidney1 / 2117774
larynx1 / 2414541
liver3 / 20774314
lung9 / 33697426
lymph0 / 442700 
lymph node0 / 916100 
mammary gland6 / 15327139
mouth0 / 670520 
muscle3 / 10771527
nerve1 / 1576863
ovary4 / 10205139
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta4 / 28082514
prostate6 / 18934531
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach3 / 9661931
testis2 / 3304426
thymus1 / 8113112
thyroid3 / 4747363
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204686_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.05
Adipocyte27.95
AdrenalCortex31.85
Adrenalgland9.95
Amygdala11.8
Appendix20.2
AtrioventricularNode10.3
BDCA4+_DentriticCells7.15
Bonemarrow7.9
BronchialEpithelialCells159.65
CD105+_Endothelial7.1
CD14+_Monocytes7
CD19+_BCells(neg._sel.)26.7
CD33+_Myeloid8.3
CD34+8
CD4+_Tcells6.8
CD56+_NKCells7.8
CD71+_EarlyErythroid6.35
CD8+_Tcells7.55
CardiacMyocytes11.5
Caudatenucleus6.1
Cerebellum8.2
CerebellumPeduncles9.05
CiliaryGanglion6.4
CingulateCortex8.15
Colorectaladenocarcinoma7.8
DorsalRootGanglion6.5
FetalThyroid143.55
Fetalbrain11.85
Fetalliver12.8
Fetallung43.55
GlobusPallidus5.65
Heart11.1
Hypothalamus7.55
Kidney6.15
Leukemia_chronicMyelogenousK-5626.05
Leukemia_promyelocytic-HL-605.6
Leukemialymphoblastic(MOLT-4)4.8
Liver28.75
Lung21.1
Lymphnode5.55
Lymphoma_burkitts(Daudi)9.65
Lymphoma_burkitts(Raji)11.25
MedullaOblongata7.85
OccipitalLobe5.95
OlfactoryBulb6.6
Ovary23.4
Pancreas5.6
PancreaticIslet8
ParietalLobe8.05
Pituitary7.65
Placenta19.05
Pons7.75
PrefrontalCortex9.65
Prostate69.2
Salivarygland6.65
SkeletalMuscle10.6
Skin7.25
SmoothMuscle32.3
Spinalcord8.3
SubthalamicNucleus6.95
SuperiorCervicalGanglion11.4
TemporalLobe7.6
Testis5.65
TestisGermCell5.5
TestisIntersitial5.9
TestisLeydigCell8
TestisSeminiferousTubule6
Thalamus7.05
Thymus18.9
Thyroid479.45
Tongue8.05
Tonsil7.15
Trachea6.05
TrigeminalGanglion16.65
Uterus144.9
UterusCorpus14.9
WholeBlood8.3
Wholebrain8.1
colon28.9
pineal_day46.5
pineal_night61.24
retina58.1
small_intestine52.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P802145
  • 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
Amygdala4 ± 0.82
Basal Forebrain3.86 ± 0.69
Basal Part of Pons3.51 ± 0.58
Cerebellar Cortex4.78 ± 0.38
Cerebellar Nuclei4.72 ± 0.76
Claustrum3.92 ± 0.64
Epithalamus4.55 ± 0.77
Frontal Lobe4.06 ± 0.71
Globus Pallidus3.53 ± 0.91
Hypothalamus4.54 ± 0.72
Insula4.05 ± 0.33
Limbic Lobe3.94 ± 0.56
Mesencephalon4.31 ± 0.71
Myelencephalon4.09 ± 0.75
Occipital Lobe4.8 ± 0.52
Parietal Lobe4.33 ± 0.72
Pontine Tegmentum4.25 ± 0.69
Striatum2.9 ± 0.55
Subthalamus4.41 ± 0.38
Temporal Lobe3.99 ± 0.77
Thalamus3.95 ± 0.78
White Matter2.59 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Irs1CBCerebellum15.27
17.17
Irs1CTXCerebral cortex14.03
9.32
Irs1HIPHippocampal region13.78
14.44
Irs1HPFHippocampal formation13.1
11.92
Irs1HYHypothalamus1.79
1.54
Irs1LSXLateral septal complex0.49
0.28
Irs1MBMidbrain5.65
5
Irs1MYMedulla7.23
6.66
Irs1OLFOlfactory bulb20.07
15.52
Irs1PPons4.37
4.04
Irs1PALPallidum7.09
6.28
Irs1RHPRetrohippocampal region12.94
9.75
Irs1sAMYStriatum-like amygdalar nuclei4.07
3.27
Irs1STRStriatum2.88
2.19
Irs1STRdStriatum dorsal region2.58
1.99
Irs1STRvStriatum ventral region3.71
2.57
Irs1THThalamus11.29
9.67
Peptide Top

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