AutismKB 2.0

Annotation Detail for AMPD1


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Basic Information Top
Gene Symbol:AMPD1 ( MAD,MADA )
Gene Full Name: adenosine monophosphate deaminase 1
Band: 1p13.2
Quick LinksEntrez ID:270; OMIM: 102770; Uniprot ID:AMPD1_HUMAN; ENSEMBL ID: ENSG00000116748; HGNC ID: 468
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 
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult21 / 193912110
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal41 / 336030712
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
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 
blood0 / 1234780 
bone0 / 716550 
bone marrow1 / 4880120
brain0 / 11009890 
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart11 / 89626122
intestine3 / 23447212
kidney0 / 2117770 
larynx0 / 241450 
liver3 / 20774314
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth2 / 6705229
muscle18 / 107715167
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis0 / 3304420 
thymus1 / 8113112
thyroid3 / 4747363
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206121_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.3
Adipocyte4.6
AdrenalCortex4.95
Adrenalgland3.8
Amygdala4.6
Appendix4.8
AtrioventricularNode3.8
BDCA4+_DentriticCells4.9
Bonemarrow4.55
BronchialEpithelialCells4.45
CD105+_Endothelial4.45
CD14+_Monocytes4.75
CD19+_BCells(neg._sel.)4.75
CD33+_Myeloid5.85
CD34+5.6
CD4+_Tcells4.8
CD56+_NKCells5.1
CD71+_EarlyErythroid4.25
CD8+_Tcells4.2
CardiacMyocytes5.85
Caudatenucleus4
Cerebellum3.65
CerebellumPeduncles5.25
CiliaryGanglion3.35
CingulateCortex4.8
Colorectaladenocarcinoma4.55
DorsalRootGanglion3.6
FetalThyroid4.45
Fetalbrain4.45
Fetalliver3.9
Fetallung3.7
GlobusPallidus3.35
Heart6
Hypothalamus4.9
Kidney3.8
Leukemia_chronicMyelogenousK-5624.1
Leukemia_promyelocytic-HL-604
Leukemialymphoblastic(MOLT-4)3.6
Liver6
Lung4.9
Lymphnode3.95
Lymphoma_burkitts(Daudi)5.8
Lymphoma_burkitts(Raji)6.5
MedullaOblongata4.15
OccipitalLobe4.05
OlfactoryBulb3.55
Ovary3.05
Pancreas3.65
PancreaticIslet4.8
ParietalLobe4.85
Pituitary5.3
Placenta4.65
Pons4.3
PrefrontalCortex5.55
Prostate5.25
Salivarygland3.6
SkeletalMuscle209.6
Skin3.55
SmoothMuscle5.15
Spinalcord4.8
SubthalamicNucleus4.2
SuperiorCervicalGanglion6.8
TemporalLobe4.1
Testis3.9
TestisGermCell3.7
TestisIntersitial4.05
TestisLeydigCell4.5
TestisSeminiferousTubule3.85
Thalamus4.6
Thymus3.55
Thyroid5.8
Tongue22.7
Tonsil4.45
Trachea3.75
TrigeminalGanglion4.7
Uterus3.65
UterusCorpus6.65
WholeBlood4.9
Wholebrain3.8
colon4.5
pineal_day5.5
pineal_night5.42
retina5.425
small_intestine6.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P51787
  • 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
Amygdala2 ± 1.02
Basal Forebrain1.86 ± 0.56
Basal Part of Pons1.24 ± 0.37
Cerebellar Cortex1.43 ± 0.72
Cerebellar Nuclei1.84 ± 0.74
Claustrum2.5 ± 0.87
Epithalamus1.24 ± 0.68
Frontal Lobe1.42 ± 0.65
Globus Pallidus2.15 ± 0.37
Hypothalamus1.75 ± 0.79
Insula1.71 ± 0.93
Limbic Lobe1.57 ± 0.63
Mesencephalon1.74 ± 0.71
Myelencephalon1.6 ± 0.66
Occipital Lobe1.64 ± 0.61
Parietal Lobe1.51 ± 0.68
Pontine Tegmentum1.57 ± 0.63
Striatum1.76 ± 0.55
Subthalamus1.67 ± 0.56
Temporal Lobe1.44 ± 0.58
Thalamus1.49 ± 0.55
White Matter2.17 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Ampd1CBCerebellum2.07
3.66
Ampd1CTXCerebral cortex1.28
1.89
Ampd1HIPHippocampal region0.5
0.84
Ampd1HPFHippocampal formation0.49
0.81
Ampd1HYHypothalamus0.04
0.03
Ampd1LSXLateral septal complex0
0
Ampd1MBMidbrain1.04
1.89
Ampd1MYMedulla0.59
1.13
Ampd1OLFOlfactory bulb0.95
1.97
Ampd1PPons0.2
0.3
Ampd1PALPallidum0.11
0.12
Ampd1RHPRetrohippocampal region0.47
0.79
Ampd1sAMYStriatum-like amygdalar nuclei0.31
0.66
Ampd1STRStriatum0.19
0.28
Ampd1STRdStriatum dorsal region0.23
0.33
Ampd1STRvStriatum ventral region0.06
0.07
Ampd1THThalamus0.36
0.73
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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