AutismKB 2.0

Annotation Detail for MDM2


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Basic Information Top
Gene Symbol:MDM2 ( HDMX,MGC5370,MGC71221,hdm2 )
Gene Full Name: Mdm2 p53 binding protein homolog (mouse)
Band: 12q15
Quick LinksEntrez ID:4193; OMIM: 164785; Uniprot ID:MDM2_HUMAN; ENSEMBL ID: ENSG00000135679; HGNC ID: 6973
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 body1 / 7076114
blastocyst2 / 6231932
fetus11 / 56401219
neonate1 / 3109732
infant0 / 236200 
juvenile2 / 5555635
adult112 / 193912157
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma5 / 17475286
breast (mammary gland) tumor4 / 9417842
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor31 / 263845117
glioma9 / 10688384
head and neck tumor12 / 13630288
kidney tumor5 / 6895972
leukemia4 / 9584241
liver tumor7 / 9635972
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal118 / 336030735
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor3 / 12494924
soft tissue/muscle tissue tumor11 / 12519187
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder4 / 29757134
blood4 / 12347832
bone1 / 7165513
bone marrow3 / 4880161
brain26 / 110098923
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye6 / 21105428
heart1 / 8962611
intestine12 / 23447251
kidney14 / 21177766
larynx2 / 2414582
liver11 / 20774352
lung17 / 33697450
lymph0 / 442700 
lymph node11 / 91610120
mammary gland5 / 15327132
mouth5 / 6705274
muscle11 / 107715102
nerve2 / 15768126
ovary1 / 1020519
pancreas8 / 21481237
parathyroid1 / 2053948
pharynx3 / 4132872
pituitary gland1 / 1658560
placenta23 / 28082581
prostate6 / 18934531
salivary gland4 / 20155198
skin8 / 21057437
spleen0 / 539520 
stomach4 / 9661941
testis17 / 33044251
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus18 / 23287877
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217542_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.8
Adipocyte7.5
AdrenalCortex10.6
Adrenalgland7.05
Amygdala7.5
Appendix9.55
AtrioventricularNode9.65
BDCA4+_DentriticCells7.5
Bonemarrow8.35
BronchialEpithelialCells7.2
CD105+_Endothelial9.5
CD14+_Monocytes8.35
CD19+_BCells(neg._sel.)7.8
CD33+_Myeloid9.1
CD34+10.05
CD4+_Tcells7.75
CD56+_NKCells9
CD71+_EarlyErythroid7.8
CD8+_Tcells6.7
CardiacMyocytes17.4
Caudatenucleus7.05
Cerebellum6.35
CerebellumPeduncles9.95
CiliaryGanglion9.85
CingulateCortex8.4
Colorectaladenocarcinoma7.75
DorsalRootGanglion7.25
FetalThyroid7.6
Fetalbrain7.25
Fetalliver7
Fetallung5.6
GlobusPallidus6.8
Heart14.9
Hypothalamus7.75
Kidney7.85
Leukemia_chronicMyelogenousK-5626.9
Leukemia_promyelocytic-HL-606.8
Leukemialymphoblastic(MOLT-4)6
Liver11.4
Lung8.3
Lymphnode6.2
Lymphoma_burkitts(Daudi)10.8
Lymphoma_burkitts(Raji)12.75
MedullaOblongata6.75
OccipitalLobe6.8
OlfactoryBulb5.9
Ovary5.95
Pancreas6.45
PancreaticIslet8.35
ParietalLobe9.05
Pituitary9.05
Placenta7.4
Pons7.85
PrefrontalCortex8.95
Prostate8.6
Salivarygland6.9
SkeletalMuscle11.75
Skin8.7
SmoothMuscle8.75
Spinalcord8.3
SubthalamicNucleus7.5
SuperiorCervicalGanglion11.65
TemporalLobe7.45
Testis6.6
TestisGermCell6.05
TestisIntersitial6.7
TestisLeydigCell8.45
TestisSeminiferousTubule6.6
Thalamus8.35
Thymus5.65
Thyroid9
Tongue8.9
Tonsil7.7
Trachea6.35
TrigeminalGanglion10
Uterus6.15
UterusCorpus7.7
WholeBlood8.2
Wholebrain5.85
colon7.65
pineal_day9.38
pineal_night9.22
retina9.4
small_intestine7.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P139895
  • 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
Amygdala7.41 ± 0.32
Basal Forebrain7.51 ± 0.13
Basal Part of Pons7.45 ± 0.23
Cerebellar Cortex7.59 ± 0.27
Cerebellar Nuclei7.9 ± 0.26
Claustrum7.45 ± 0.32
Epithalamus7.71 ± 0.11
Frontal Lobe7.38 ± 0.28
Globus Pallidus7.85 ± 0.32
Hypothalamus7.3 ± 0.14
Insula7.29 ± 0.23
Limbic Lobe7.41 ± 0.35
Mesencephalon7.53 ± 0.33
Myelencephalon7.47 ± 0.31
Occipital Lobe7.81 ± 0.3
Parietal Lobe7.49 ± 0.23
Pontine Tegmentum7.52 ± 0.33
Striatum7.54 ± 0.33
Subthalamus7.61 ± 0.21
Temporal Lobe7.38 ± 0.25
Thalamus7.57 ± 0.22
White Matter8.57 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mdm2CBCerebellum17.11
19.67
Mdm2CTXCerebral cortex24.22
16
Mdm2HIPHippocampal region31.07
30.83
Mdm2HPFHippocampal formation27.86
24.68
Mdm2HYHypothalamus6.35
4.32
Mdm2LSXLateral septal complex11.76
7.11
Mdm2MBMidbrain7.74
6.4
Mdm2MYMedulla16.05
15.85
Mdm2OLFOlfactory bulb16.49
12.61
Mdm2PPons10.6
10.05
Mdm2PALPallidum7.2
5.58
Mdm2RHPRetrohippocampal region21.24
14.73
Mdm2sAMYStriatum-like amygdalar nuclei6.09
3.92
Mdm2STRStriatum12.32
7.87
Mdm2STRdStriatum dorsal region13.79
9.12
Mdm2STRvStriatum ventral region12.71
7.43
Mdm2THThalamus13.74
10.24
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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