AutismKB 2.0

Annotation Detail for AIM2


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Basic Information Top
Gene Symbol:AIM2 ( PYHIN4 )
Gene Full Name: absent in melanoma 2
Band: 1q23.1-q23.2
Quick LinksEntrez ID:9447; OMIM: 604578; Uniprot ID:AIM2_HUMAN; ENSEMBL ID: ENSG00000163568; HGNC ID: 357
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 body0 / 707610 
blastocyst0 / 623190 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult8 / 19391214
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) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma4 / 7175555
non-neoplasia2 / 9725020
normal26 / 33603077
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain3 / 11009892
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine1 / 2344724
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node10 / 91610109
mammary gland0 / 1532710 
mouth3 / 6705244
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen4 / 5395274
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206513_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.95
Adipocyte5.5
AdrenalCortex6.2
Adrenalgland4.85
Amygdala5.9
Appendix10.9
AtrioventricularNode4.55
BDCA4+_DentriticCells6.2
Bonemarrow5.75
BronchialEpithelialCells5.4
CD105+_Endothelial5.4
CD14+_Monocytes6.95
CD19+_BCells(neg._sel.)75.95
CD33+_Myeloid7.8
CD34+6.65
CD4+_Tcells5.75
CD56+_NKCells6.25
CD71+_EarlyErythroid5.25
CD8+_Tcells5.05
CardiacMyocytes7.25
Caudatenucleus5.1
Cerebellum4.6
CerebellumPeduncles6.55
CiliaryGanglion4.3
CingulateCortex5.85
Colorectaladenocarcinoma5.6
DorsalRootGanglion4.55
FetalThyroid5.45
Fetalbrain6.05
Fetalliver5
Fetallung4.8
GlobusPallidus4.2
Heart7.9
Hypothalamus5.9
Kidney4.75
Leukemia_chronicMyelogenousK-5625.1
Leukemia_promyelocytic-HL-6022.15
Leukemialymphoblastic(MOLT-4)4.5
Liver7.75
Lung6.2
Lymphnode17.45
Lymphoma_burkitts(Daudi)35.1
Lymphoma_burkitts(Raji)10.35
MedullaOblongata5.3
OccipitalLobe5
OlfactoryBulb4.6
Ovary3.85
Pancreas5.85
PancreaticIslet6.05
ParietalLobe6.1
Pituitary10.4
Placenta5.7
Pons7.15
PrefrontalCortex6.9
Prostate6.6
Salivarygland4.65
SkeletalMuscle7.2
Skin4.55
SmoothMuscle6.2
Spinalcord6.05
SubthalamicNucleus5.25
SuperiorCervicalGanglion7.15
TemporalLobe5.2
Testis4.8
TestisGermCell4.75
TestisIntersitial4.75
TestisLeydigCell5.6
TestisSeminiferousTubule4.75
Thalamus5.75
Thymus4.4
Thyroid6.85
Tongue7.25
Tonsil29.95
Trachea4.7
TrigeminalGanglion7.35
Uterus5.25
UterusCorpus8.35
WholeBlood18.25
Wholebrain5
colon5.65
pineal_day6.76
pineal_night6.74
retina6.7
small_intestine5.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_15753_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
Amygdala3.91 ± 0.9
Basal Forebrain3.87 ± 0.46
Basal Part of Pons3.17 ± 0.45
Cerebellar Cortex4.55 ± 0.73
Cerebellar Nuclei5.27 ± 0.98
Claustrum4.5 ± 1.03
Epithalamus6.01 ± 0.73
Frontal Lobe3.37 ± 0.82
Globus Pallidus3.86 ± 1.06
Hypothalamus3.84 ± 0.5
Insula3.56 ± 0.56
Limbic Lobe3.77 ± 0.71
Mesencephalon3.85 ± 1.08
Myelencephalon3.84 ± 1
Occipital Lobe4.79 ± 1.78
Parietal Lobe3.46 ± 0.83
Pontine Tegmentum4.26 ± 1
Striatum4.3 ± 0.8
Subthalamus4.11 ± 1.23
Temporal Lobe3.77 ± 0.83
Thalamus3.27 ± 0.67
White Matter3.74 ± 0.84
Mouse Brain ISH
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


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