AutismKB 2.0

Annotation Detail for MEF2D


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Basic Information Top
Gene Symbol:MEF2D ( DKFZp686I1536 )
Gene Full Name: myocyte enhancer factor 2D
Band: 1q22
Quick LinksEntrez ID:4209; OMIM: 600663; Uniprot ID:MEF2D_HUMAN; ENSEMBL ID: ENSG00000116604; HGNC ID: 6997
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
blastocyst3 / 6231948
fetus32 / 56401256
neonate0 / 310970 
infant1 / 2362042
juvenile3 / 5555653
adult164 / 193912184
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) tumor8 / 9417884
cervical tumor0 / 343660 
chondrosarcoma7 / 8282384
colorectal tumor12 / 114246105
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor13 / 26384549
glioma10 / 10688393
head and neck tumor2 / 13630214
kidney tumor4 / 6895958
leukemia12 / 95842125
liver tumor0 / 963590 
lung tumor6 / 10312758
lymphoma9 / 71755125
non-neoplasia5 / 9725051
normal234 / 336030769
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor13 / 124949104
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood11 / 12347889
bone7 / 7165597
bone marrow2 / 4880140
brain60 / 110098954
cervix0 / 481710 
connective tissue7 / 14925546
ear2 / 16212123
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye28 / 211054132
heart1 / 8962611
intestine25 / 234472106
kidney9 / 21177742
larynx1 / 2414541
liver2 / 2077439
lung27 / 33697480
lymph6 / 44270135
lymph node11 / 91610120
mammary gland12 / 15327178
mouth2 / 6705229
muscle8 / 10771574
nerve0 / 157680 
ovary3 / 10205129
pancreas26 / 214812121
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta21 / 28082574
prostate12 / 18934563
salivary gland0 / 201550 
skin23 / 210574109
spleen4 / 5395274
stomach4 / 9661941
testis11 / 33044233
thymus3 / 8113136
thyroid2 / 4747342
tonsil1 / 1699958
trachea1 / 5241319
umbilical cord0 / 136800 
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203003_at
Cell line Expression level Expression bar
721_B_lymphoblasts31.3
Adipocyte18.9
AdrenalCortex33.3
Adrenalgland20.1
Amygdala13.05
Appendix24.65
AtrioventricularNode31.95
BDCA4+_DentriticCells22.6
Bonemarrow23.1
BronchialEpithelialCells10.55
CD105+_Endothelial20.15
CD14+_Monocytes24.1
CD19+_BCells(neg._sel.)27.7
CD33+_Myeloid31.7
CD34+38.95
CD4+_Tcells16.95
CD56+_NKCells20.05
CD71+_EarlyErythroid19.75
CD8+_Tcells23
CardiacMyocytes22.4
Caudatenucleus18.9
Cerebellum15.4
CerebellumPeduncles20.85
CiliaryGanglion15
CingulateCortex43.3
Colorectaladenocarcinoma14.1
DorsalRootGanglion14.85
FetalThyroid14.4
Fetalbrain14.35
Fetalliver16
Fetallung10.15
GlobusPallidus21.9
Heart43.65
Hypothalamus22.8
Kidney15.2
Leukemia_chronicMyelogenousK-56216.95
Leukemia_promyelocytic-HL-6014.85
Leukemialymphoblastic(MOLT-4)12.6
Liver17.8
Lung16.9
Lymphnode14.5
Lymphoma_burkitts(Daudi)24.55
Lymphoma_burkitts(Raji)26.05
MedullaOblongata21.45
OccipitalLobe17.05
OlfactoryBulb17.1
Ovary15.7
Pancreas19.75
PancreaticIslet25.95
ParietalLobe20.65
Pituitary22
Placenta18.55
Pons34.45
PrefrontalCortex27.4
Prostate15.8
Salivarygland16.2
SkeletalMuscle48.95
Skin37.5
SmoothMuscle18.45
Spinalcord19.35
SubthalamicNucleus40.4
SuperiorCervicalGanglion23.6
TemporalLobe29.3
Testis14.4
TestisGermCell10.2
TestisIntersitial15.75
TestisLeydigCell18
TestisSeminiferousTubule22
Thalamus27.2
Thymus13.25
Thyroid15.3
Tongue19.5
Tonsil14.65
Trachea13.6
TrigeminalGanglion20.45
Uterus10.3
UterusCorpus15.35
WholeBlood14.35
Wholebrain13.3
colon12.35
pineal_day31.88
pineal_night33.96
retina17.225
small_intestine9.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P334186
  • 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
Amygdala4.58 ± 0.61
Basal Forebrain4.14 ± 0.51
Basal Part of Pons4.42 ± 0.48
Cerebellar Cortex4.61 ± 0.25
Cerebellar Nuclei3.86 ± 0.36
Claustrum4.83 ± 0.68
Epithalamus4.01 ± 0.55
Frontal Lobe4.34 ± 0.44
Globus Pallidus3.33 ± 0.62
Hypothalamus4.03 ± 0.68
Insula4.23 ± 0.32
Limbic Lobe4.58 ± 0.42
Mesencephalon4.26 ± 0.58
Myelencephalon4.37 ± 0.49
Occipital Lobe4.69 ± 0.48
Parietal Lobe4.4 ± 0.47
Pontine Tegmentum4.41 ± 0.45
Striatum4.39 ± 0.48
Subthalamus4.11 ± 0.42
Temporal Lobe4.53 ± 0.39
Thalamus4.38 ± 0.44
White Matter3.3 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mef2dCBCerebellum100
100
Mef2dCTXCerebral cortex100
100
Mef2dHIPHippocampal region100
100
Mef2dHPFHippocampal formation100
100
Mef2dHYHypothalamus100
100
Mef2dLSXLateral septal complex100
100
Mef2dMBMidbrain100
100
Mef2dMYMedulla100
100
Mef2dOLFOlfactory bulb100
100
Mef2dPPons100
100
Mef2dPALPallidum100
100
Mef2dRHPRetrohippocampal region100
100
Mef2dsAMYStriatum-like amygdalar nuclei100
100
Mef2dSTRStriatum100
100
Mef2dSTRdStriatum dorsal region100
100
Mef2dSTRvStriatum ventral region100
100
Mef2dTHThalamus100
100
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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