AutismKB 2.0

Annotation Detail for AUTS2


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Basic Information Top
Gene Symbol:AUTS2 ( FBRSL2,KIAA0442,MGC13140 )
Gene Full Name: autism susceptibility candidate 2
Band: 7q11.22
Quick LinksEntrez ID:26053; OMIM: 607270; Uniprot ID:AUTS2_HUMAN; ENSEMBL ID: ENSG00000158321; HGNC ID: 14262
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 body4 / 7076156
blastocyst9 / 62319144
fetus61 / 564012108
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult80 / 193912141
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor13 / 114246113
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor14 / 26384553
glioma6 / 10688356
head and neck tumor12 / 13630288
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma3 / 7175541
non-neoplasia2 / 9725020
normal171 / 336030750
ovarian tumor5 / 7668265
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood1 / 1234788
bone3 / 7165541
bone marrow2 / 4880140
brain61 / 110098955
cervix1 / 4817120
connective tissue15 / 149255100
ear4 / 16212246
embryonic tissue23 / 215722106
esophagus0 / 202090 
eye5 / 21105423
heart5 / 8962655
intestine16 / 23447268
kidney2 / 2117779
larynx4 / 24145165
liver5 / 20774324
lung22 / 33697465
lymph2 / 4427045
lymph node3 / 9161032
mammary gland8 / 15327152
mouth7 / 67052104
muscle2 / 10771518
nerve2 / 15768126
ovary5 / 10205148
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta3 / 28082510
prostate5 / 18934526
salivary gland0 / 201550 
skin9 / 21057442
spleen1 / 5395218
stomach3 / 9661931
testis9 / 33044227
thymus1 / 8113112
thyroid2 / 4747342
tonsil1 / 1699958
trachea3 / 5241357
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212599_at
Cell line Expression level Expression bar
721_B_lymphoblasts513.2
Adipocyte10.2
AdrenalCortex10.25
Adrenalgland8.35
Amygdala207.15
Appendix9.05
AtrioventricularNode7.9
BDCA4+_DentriticCells184.15
Bonemarrow6.55
BronchialEpithelialCells13.95
CD105+_Endothelial7.45
CD14+_Monocytes6.65
CD19+_BCells(neg._sel.)12.35
CD33+_Myeloid8
CD34+20.15
CD4+_Tcells116.35
CD56+_NKCells346.6
CD71+_EarlyErythroid5.1
CD8+_Tcells59.3
CardiacMyocytes8.25
Caudatenucleus72.45
Cerebellum72.2
CerebellumPeduncles14.75
CiliaryGanglion6.8
CingulateCortex43.8
Colorectaladenocarcinoma6.1
DorsalRootGanglion18.55
FetalThyroid7.2
Fetalbrain438.7
Fetalliver17.05
Fetallung27.8
GlobusPallidus11
Heart10.45
Hypothalamus84.6
Kidney42.2
Leukemia_chronicMyelogenousK-5626.1
Leukemia_promyelocytic-HL-606.75
Leukemialymphoblastic(MOLT-4)6.15
Liver14.95
Lung69.45
Lymphnode6.3
Lymphoma_burkitts(Daudi)20.9
Lymphoma_burkitts(Raji)14.9
MedullaOblongata34.2
OccipitalLobe52.45
OlfactoryBulb128.25
Ovary5.45
Pancreas7.45
PancreaticIslet8.4
ParietalLobe10.65
Pituitary29.2
Placenta10.3
Pons20.15
PrefrontalCortex76.3
Prostate114.4
Salivarygland139.85
SkeletalMuscle9.65
Skin14.95
SmoothMuscle5.15
Spinalcord34.1
SubthalamicNucleus13.9
SuperiorCervicalGanglion20.2
TemporalLobe24
Testis14.3
TestisGermCell16.7
TestisIntersitial6.9
TestisLeydigCell7.45
TestisSeminiferousTubule6.4
Thalamus113.3
Thymus61.6
Thyroid10.65
Tongue10.55
Tonsil8.2
Trachea150.85
TrigeminalGanglion11.65
Uterus33.3
UterusCorpus7.5
WholeBlood16
Wholebrain39.1
colon39.9
pineal_day12.46
pineal_night13.44
retina124.675
small_intestine37.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_101_PI416408490
  • 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
Amygdala3.99 ± 0.58
Basal Forebrain3.27 ± 0.66
Basal Part of Pons2.94 ± 0.65
Cerebellar Cortex2.98 ± 0.59
Cerebellar Nuclei3.08 ± 0.56
Claustrum3.23 ± 0.65
Epithalamus3.45 ± 0.76
Frontal Lobe3.09 ± 0.69
Globus Pallidus3.94 ± 0.62
Hypothalamus3.25 ± 0.51
Insula2.94 ± 0.75
Limbic Lobe3.25 ± 0.74
Mesencephalon3.45 ± 0.88
Myelencephalon3.36 ± 0.73
Occipital Lobe3.7 ± 0.6
Parietal Lobe3.45 ± 0.73
Pontine Tegmentum3.48 ± 0.69
Striatum4.38 ± 0.55
Subthalamus3.09 ± 0.48
Temporal Lobe3.34 ± 0.67
Thalamus3.62 ± 0.63
White Matter3.06 ± 0.76
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Auts2CBCerebellum0
0
Auts2CTXCerebral cortex0
0
Auts2HIPHippocampal region0
0
Auts2HPFHippocampal formation0
0
Auts2HYHypothalamus0
0
Auts2LSXLateral septal complex0
0
Auts2MBMidbrain0
0
Auts2MYMedulla0
0
Auts2OLFOlfactory bulb0
0
Auts2PPons0
0
Auts2PALPallidum0
0
Auts2RHPRetrohippocampal region0
0
Auts2sAMYStriatum-like amygdalar nuclei0
0
Auts2STRStriatum0
0
Auts2STRdStriatum dorsal region0
0
Auts2STRvStriatum ventral region0
0
Auts2THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AUTS2_HUMAN_1098 6 1098 1103 NDPLHR PRIDE

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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