AutismKB 2.0

Annotation Detail for MAGEL2


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Basic Information Top
Gene Symbol:MAGEL2 ( NDNL1,nM15 )
Gene Full Name: MAGE-like 2
Band: 15q11.2
Quick LinksEntrez ID:54551; OMIM: 605283; Uniprot ID:; ENSEMBL ID: ; HGNC ID: 6814
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
blastocyst0 / 623190 
fetus4 / 5640127
neonate0 / 310970 
infant1 / 2362042
juvenile0 / 555560 
adult8 / 19391214
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219894_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.9
Adipocyte3.9
AdrenalCortex4.2
Adrenalgland3.4
Amygdala4.45
Appendix4
AtrioventricularNode3.1
BDCA4+_DentriticCells4.25
Bonemarrow3.95
BronchialEpithelialCells3.9
CD105+_Endothelial4
CD14+_Monocytes4.25
CD19+_BCells(neg._sel.)4.2
CD33+_Myeloid5.05
CD34+5.05
CD4+_Tcells4.25
CD56+_NKCells4.8
CD71+_EarlyErythroid3.7
CD8+_Tcells3.8
CardiacMyocytes5.15
Caudatenucleus3.6
Cerebellum3.2
CerebellumPeduncles4.5
CiliaryGanglion2.85
CingulateCortex4.1
Colorectaladenocarcinoma3.95
DorsalRootGanglion3.15
FetalThyroid3.85
Fetalbrain4
Fetalliver3.45
Fetallung3.25
GlobusPallidus3
Heart5.2
Hypothalamus9.2
Kidney3.3
Leukemia_chronicMyelogenousK-5623.6
Leukemia_promyelocytic-HL-603.5
Leukemialymphoblastic(MOLT-4)3.2
Liver5.3
Lung4.3
Lymphnode3.4
Lymphoma_burkitts(Daudi)5.1
Lymphoma_burkitts(Raji)5.6
MedullaOblongata3.65
OccipitalLobe3.55
OlfactoryBulb3.1
Ovary2.6
Pancreas3.2
PancreaticIslet4.2
ParietalLobe4.25
Pituitary8.1
Placenta4.15
Pons3.8
PrefrontalCortex4.95
Prostate4.65
Salivarygland3.2
SkeletalMuscle4.7
Skin3.1
SmoothMuscle4.45
Spinalcord4.25
SubthalamicNucleus3.65
SuperiorCervicalGanglion4.85
TemporalLobe3.65
Testis5.9
TestisGermCell3.3
TestisIntersitial3.4
TestisLeydigCell3.9
TestisSeminiferousTubule3.4
Thalamus4.1
Thymus3.1
Thyroid4.95
Tongue3.95
Tonsil3.85
Trachea3.3
TrigeminalGanglion4
Uterus3.25
UterusCorpus3.6
WholeBlood4.3
Wholebrain5.7
colon3.95
pineal_day5.76
pineal_night7.02
retina4.825
small_intestine3.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_1479_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
Amygdala3.25 ± 0.88
Basal Forebrain3.41 ± 0.42
Basal Part of Pons3 ± 0.74
Cerebellar Cortex2.51 ± 0.59
Cerebellar Nuclei2.69 ± 0.75
Claustrum3.42 ± 1.13
Epithalamus2.3 ± 0.64
Frontal Lobe2.81 ± 0.76
Globus Pallidus2.75 ± 0.39
Hypothalamus3.3 ± 0.57
Insula2.35 ± 0.6
Limbic Lobe2.97 ± 0.74
Mesencephalon3.1 ± 0.55
Myelencephalon2.94 ± 0.69
Occipital Lobe3.22 ± 0.8
Parietal Lobe3.1 ± 0.65
Pontine Tegmentum2.78 ± 0.71
Striatum3.16 ± 0.75
Subthalamus2.97 ± 0.28
Temporal Lobe2.76 ± 0.75
Thalamus2.98 ± 0.67
White Matter2.27 ± 0.5
Mouse Brain ISH
Peptide Top

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  (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