AutismKB 2.0

Annotation Detail for MEF2A


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Basic Information Top
Gene Symbol:MEF2A ( ADCAD1,RSRFC4,RSRFC9 )
Gene Full Name: myocyte enhancer factor 2A
Band: 15q26.3
Quick LinksEntrez ID:4205; OMIM: 600660; Uniprot ID:MEF2A_HUMAN; ENSEMBL ID: ENSG00000068305; HGNC ID: 6993
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
blastocyst6 / 6231996
fetus48 / 56401285
neonate3 / 3109796
infant1 / 2362042
juvenile1 / 5555617
adult124 / 193912163
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) tumor6 / 9417863
cervical tumor0 / 343660 
chondrosarcoma9 / 82823108
colorectal tumor11 / 11424696
esophageal tumor0 / 172900 
gastrointestinal tumor7 / 11936958
germ cell tumor14 / 26384553
glioma3 / 10688328
head and neck tumor7 / 13630251
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor0 / 1031270 
lymphoma2 / 7175527
non-neoplasia6 / 9725061
normal243 / 336030772
ovarian tumor3 / 7668239
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor8 / 12494964
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites5 / 40015124
bladder1 / 2975733
blood2 / 12347816
bone7 / 7165597
bone marrow1 / 4880120
brain65 / 110098959
cervix0 / 481710 
connective tissue13 / 14925587
ear1 / 1621261
embryonic tissue15 / 21572269
esophagus0 / 202090 
eye14 / 21105466
heart13 / 89626145
intestine16 / 23447268
kidney12 / 21177756
larynx3 / 24145124
liver9 / 20774343
lung16 / 33697447
lymph1 / 4427022
lymph node16 / 91610174
mammary gland6 / 15327139
mouth4 / 6705259
muscle2 / 10771518
nerve1 / 1576863
ovary4 / 10205139
pancreas16 / 21481274
parathyroid4 / 20539194
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta9 / 28082532
prostate6 / 18934531
salivary gland0 / 201550 
skin13 / 21057461
spleen0 / 539520 
stomach1 / 9661910
testis18 / 33044254
thymus7 / 8113186
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord3 / 13680219
uterus29 / 232878124
vascular11 / 51780212
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208328_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.9
Adipocyte12.2
AdrenalCortex16.25
Adrenalgland12.25
Amygdala12.65
Appendix15.3
AtrioventricularNode14.9
BDCA4+_DentriticCells12.15
Bonemarrow14.35
BronchialEpithelialCells11.25
CD105+_Endothelial12.05
CD14+_Monocytes13.4
CD19+_BCells(neg._sel.)20.95
CD33+_Myeloid15.15
CD34+14.8
CD4+_Tcells12.5
CD56+_NKCells16.65
CD71+_EarlyErythroid12.2
CD8+_Tcells11.1
CardiacMyocytes21.55
Caudatenucleus11.4
Cerebellum10.35
CerebellumPeduncles16.85
CiliaryGanglion16.35
CingulateCortex13.45
Colorectaladenocarcinoma12.2
DorsalRootGanglion11.35
FetalThyroid13.5
Fetalbrain11.95
Fetalliver11
Fetallung9.2
GlobusPallidus10.9
Heart21.05
Hypothalamus12.55
Kidney12.1
Leukemia_chronicMyelogenousK-56211.3
Leukemia_promyelocytic-HL-6011
Leukemialymphoblastic(MOLT-4)8.75
Liver19.2
Lung13.6
Lymphnode10.15
Lymphoma_burkitts(Daudi)16.75
Lymphoma_burkitts(Raji)21.85
MedullaOblongata11.3
OccipitalLobe11.1
OlfactoryBulb9.7
Ovary11.95
Pancreas11.05
PancreaticIslet13.65
ParietalLobe14.85
Pituitary14.6
Placenta11.75
Pons12.65
PrefrontalCortex14.3
Prostate15.45
Salivarygland11.05
SkeletalMuscle21.45
Skin13.8
SmoothMuscle13.95
Spinalcord13.35
SubthalamicNucleus12.55
SuperiorCervicalGanglion20.5
TemporalLobe12.4
Testis10.7
TestisGermCell9.35
TestisIntersitial10.6
TestisLeydigCell13.15
TestisSeminiferousTubule10.9
Thalamus13.2
Thymus9.25
Thyroid14.1
Tongue15.4
Tonsil13.25
Trachea10.45
TrigeminalGanglion17.25
Uterus11.55
UterusCorpus13.45
WholeBlood13.1
Wholebrain9.3
colon13
pineal_day15.34
pineal_night14.38
retina15.225
small_intestine12
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P353652
  • 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
Amygdala8.88 ± 0.3
Basal Forebrain8.35 ± 0.21
Basal Part of Pons8.67 ± 0.18
Cerebellar Cortex8.61 ± 0.28
Cerebellar Nuclei8.31 ± 0.21
Claustrum9.5 ± 0.2
Epithalamus8.62 ± 0.38
Frontal Lobe8.68 ± 0.33
Globus Pallidus7.95 ± 0.21
Hypothalamus8.12 ± 0.36
Insula8.74 ± 0.25
Limbic Lobe8.87 ± 0.34
Mesencephalon8.49 ± 0.35
Myelencephalon8.68 ± 0.31
Occipital Lobe9.28 ± 0.47
Parietal Lobe8.87 ± 0.33
Pontine Tegmentum8.61 ± 0.34
Striatum8.44 ± 0.39
Subthalamus8.1 ± 0.14
Temporal Lobe8.78 ± 0.26
Thalamus8.98 ± 0.32
White Matter8.29 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mef2aCBCerebellum30.27
50
Mef2aCTXCerebral cortex50
50
Mef2aHIPHippocampal region50
50
Mef2aHPFHippocampal formation50
50
Mef2aHYHypothalamus50
50
Mef2aLSXLateral septal complex50
50
Mef2aMBMidbrain50
50
Mef2aMYMedulla50
50
Mef2aOLFOlfactory bulb50
50
Mef2aPPons50
50
Mef2aPALPallidum41.1
41.42
Mef2aRHPRetrohippocampal region50
50
Mef2asAMYStriatum-like amygdalar nuclei50
50
Mef2aSTRStriatum50
50
Mef2aSTRdStriatum dorsal region50
50
Mef2aSTRvStriatum ventral region50
42.67
Mef2aTHThalamus50
50
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