AutismKB 2.0

Annotation Detail for MEF2C


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:MEF2C ( C5DELq14.3; DEL5q14.3 )
Gene Full Name: myocyte enhancer factor 2C
Band: 5q14.3
Quick LinksEntrez ID:4208; OMIM: 600662; Uniprot ID:MEF2C_HUMAN; ENSEMBL ID: ENSG00000081189; HGNC ID: 6996
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 
fetus185 / 564012328
neonate2 / 3109764
infant1 / 2362042
juvenile0 / 555560 
adult71 / 193912136
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor32 / 263845121
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma4 / 7175555
non-neoplasia3 / 9725030
normal389 / 3360307115
ovarian tumor1 / 7668213
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor7 / 12494956
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood6 / 12347848
bone0 / 716550 
bone marrow3 / 4880161
brain231 / 1100989209
cervix0 / 481710 
connective tissue4 / 14925526
ear4 / 16212246
embryonic tissue4 / 21572218
esophagus1 / 2020949
eye7 / 21105433
heart15 / 89626167
intestine7 / 23447229
kidney4 / 21177718
larynx1 / 2414541
liver9 / 20774343
lung4 / 33697411
lymph0 / 442700 
lymph node20 / 91610218
mammary gland3 / 15327119
mouth1 / 6705214
muscle23 / 107715213
nerve2 / 15768126
ovary1 / 1020519
pancreas5 / 21481223
parathyroid1 / 2053948
pharynx12 / 41328290
pituitary gland2 / 16585120
placenta16 / 28082556
prostate4 / 18934521
salivary gland0 / 201550 
skin10 / 21057447
spleen3 / 5395255
stomach2 / 9661920
testis5 / 33044215
thymus1 / 8113112
thyroid1 / 4747321
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus4 / 23287817
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209199_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts67.25
Adipocyte8.3
AdrenalCortex12
Adrenalgland7.75
Amygdala390.75
Appendix10.75
AtrioventricularNode6.45
BDCA4+_DentriticCells451.7
Bonemarrow8.45
BronchialEpithelialCells5.9
CD105+_Endothelial15.35
CD14+_Monocytes217.6
CD19+_BCells(neg._sel.)626.15
CD33+_Myeloid135.35
CD34+252.5
CD4+_Tcells7.25
CD56+_NKCells23.45
CD71+_EarlyErythroid5.5
CD8+_Tcells5.65
CardiacMyocytes11.55
Caudatenucleus15.7
Cerebellum8.2
CerebellumPeduncles10.9
CiliaryGanglion6.05
CingulateCortex148.8
Colorectaladenocarcinoma6.6
DorsalRootGanglion6.9
FetalThyroid22.55
Fetalbrain2361
Fetalliver9.2
Fetallung24.2
GlobusPallidus109.85
Heart10.75
Hypothalamus11.3
Kidney7.05
Leukemia_chronicMyelogenousK-56216.75
Leukemia_promyelocytic-HL-6039.15
Leukemialymphoblastic(MOLT-4)6.75
Liver11.85
Lung9.55
Lymphnode44.8
Lymphoma_burkitts(Daudi)18.7
Lymphoma_burkitts(Raji)25.05
MedullaOblongata106.5
OccipitalLobe541.65
OlfactoryBulb7.9
Ovary8.45
Pancreas6.65
PancreaticIslet9.35
ParietalLobe271.85
Pituitary29.55
Placenta10.25
Pons45.2
PrefrontalCortex408.5
Prostate11.2
Salivarygland8.8
SkeletalMuscle39.25
Skin7.05
SmoothMuscle8.35
Spinalcord19.35
SubthalamicNucleus227.7
SuperiorCervicalGanglion10.25
TemporalLobe87.7
Testis7.6
TestisGermCell8.7
TestisIntersitial8.9
TestisLeydigCell8.25
TestisSeminiferousTubule7.25
Thalamus11.55
Thymus7.05
Thyroid43.3
Tongue33.35
Tonsil139.45
Trachea9.45
TrigeminalGanglion8.5
Uterus32.3
UterusCorpus11.1
WholeBlood58.25
Wholebrain394.55
colon15.7
pineal_day30.1
pineal_night20.76
retina15.2
small_intestine11.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13035_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
Amygdala8.64 ± 0.85
Basal Forebrain7.64 ± 0.34
Basal Part of Pons7.04 ± 0.87
Cerebellar Cortex6.92 ± 0.34
Cerebellar Nuclei6.95 ± 0.65
Claustrum8.67 ± 0.56
Epithalamus7.28 ± 0.75
Frontal Lobe7.68 ± 0.61
Globus Pallidus6.32 ± 1.15
Hypothalamus7.17 ± 0.36
Insula7.92 ± 0.38
Limbic Lobe7.79 ± 0.7
Mesencephalon7.31 ± 0.7
Myelencephalon7.54 ± 0.62
Occipital Lobe8.32 ± 0.56
Parietal Lobe7.94 ± 0.7
Pontine Tegmentum7.68 ± 0.81
Striatum6.44 ± 1.46
Subthalamus6.86 ± 0.47
Temporal Lobe8.05 ± 0.48
Thalamus7.32 ± 0.49
White Matter6.08 ± 0.88
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mef2cCBCerebellum8.03
12.89
Mef2cCTXCerebral cortex100
100
Mef2cHIPHippocampal region37.08
46.51
Mef2cHPFHippocampal formation53.48
72.32
Mef2cHYHypothalamus2.68
1.92
Mef2cLSXLateral septal complex22.28
22.46
Mef2cMBMidbrain5.87
5.96
Mef2cMYMedulla2
1.77
Mef2cOLFOlfactory bulb100
100
Mef2cPPons1.78
1.95
Mef2cPALPallidum8.91
7.93
Mef2cRHPRetrohippocampal region83.25
99.94
Mef2csAMYStriatum-like amygdalar nuclei30.2
32.95
Mef2cSTRStriatum24.73
21.54
Mef2cSTRdStriatum dorsal region18.21
15.16
Mef2cSTRvStriatum ventral region47.92
37.11
Mef2cTHThalamus9.73
8.71
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved