AutismKB 2.0

Annotation Detail for MECP2


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Basic Information Top
Gene Symbol:MECP2 ( AUTSX3,DKFZp686A24160,MRX16,MRX79,MRXS13,MRXSL,PPMX,RS,RTS,RTT )
Gene Full Name: methyl CpG binding protein 2 (Rett syndrome)
Band: Xq28
Quick LinksEntrez ID:4204; OMIM: 300005; Uniprot ID:MECP2_HUMAN; ENSEMBL ID: ENSG00000169057; HGNC ID: 6990
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 
fetus10 / 56401217
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult61 / 193912131
embryoid body7 / 7076198
blastocyst4 / 6231964
fetus21 / 56401237
neonate0 / 310970 
infant2 / 2362084
juvenile1 / 5555617
adult60 / 193912130
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) tumor1 / 9417810
cervical tumor1 / 3436629
chondrosarcoma10 / 82823120
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia8 / 9584283
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal51 / 336030715
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor5 / 9417853
cervical tumor3 / 3436687
chondrosarcoma1 / 8282312
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor8 / 26384530
glioma3 / 10688328
head and neck tumor3 / 13630222
kidney tumor4 / 6895958
leukemia2 / 9584220
liver tumor1 / 9635910
lung tumor5 / 10312748
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal128 / 336030738
ovarian tumor6 / 7668278
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer5 / 10268048
retinoblastoma5 / 46356107
skin tumor10 / 12494980
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood7 / 12347856
bone9 / 71655125
bone marrow2 / 4880140
brain9 / 11009898
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye2 / 2110549
heart1 / 8962611
intestine9 / 23447238
kidney0 / 2117770 
larynx0 / 241450 
liver3 / 20774314
lung6 / 33697417
lymph1 / 4427022
lymph node2 / 9161021
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve1 / 1576863
ovary1 / 1020519
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate4 / 18934521
salivary gland0 / 201550 
skin6 / 21057428
spleen2 / 5395237
stomach3 / 9661931
testis0 / 3304420 
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites0 / 400150 
bladder1 / 2975733
blood1 / 1234788
bone3 / 7165541
bone marrow0 / 488010 
brain44 / 110098939
cervix3 / 4817162
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus0 / 202090 
eye12 / 21105456
heart0 / 896260 
intestine14 / 23447259
kidney7 / 21177733
larynx0 / 241450 
liver2 / 2077439
lung16 / 33697447
lymph2 / 4427045
lymph node9 / 9161098
mammary gland8 / 15327152
mouth2 / 6705229
muscle3 / 10771527
nerve0 / 157680 
ovary8 / 10205178
pancreas9 / 21481241
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta3 / 28082510
prostate5 / 18934526
salivary gland0 / 201550 
skin19 / 21057490
spleen3 / 5395255
stomach3 / 9661931
testis1 / 3304423
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202618_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.4
Adipocyte9.85
AdrenalCortex10.5
Adrenalgland8.4
Amygdala10.15
Appendix10.6
AtrioventricularNode7.55
BDCA4+_DentriticCells10.15
Bonemarrow10.15
BronchialEpithelialCells10.1
CD105+_Endothelial10
CD14+_Monocytes11
CD19+_BCells(neg._sel.)10.1
CD33+_Myeloid12.3
CD34+12.65
CD4+_Tcells10.85
CD56+_NKCells13.65
CD71+_EarlyErythroid11.7
CD8+_Tcells11.9
CardiacMyocytes14.2
Caudatenucleus8.8
Cerebellum8.65
CerebellumPeduncles11.8
CiliaryGanglion6.9
CingulateCortex10.05
Colorectaladenocarcinoma10
DorsalRootGanglion7.65
FetalThyroid11.25
Fetalbrain9.75
Fetalliver8.5
Fetallung8.35
GlobusPallidus7.3
Heart14.3
Hypothalamus10.45
Kidney8
Leukemia_chronicMyelogenousK-5628.95
Leukemia_promyelocytic-HL-609.05
Leukemialymphoblastic(MOLT-4)11.35
Liver16.35
Lung11
Lymphnode9.05
Lymphoma_burkitts(Daudi)14
Lymphoma_burkitts(Raji)28.7
MedullaOblongata8.8
OccipitalLobe8.6
OlfactoryBulb7.4
Ovary7
Pancreas9.25
PancreaticIslet10.8
ParietalLobe10.3
Pituitary11.55
Placenta8.2
Pons9.4
PrefrontalCortex10.9
Prostate11.65
Salivarygland8.05
SkeletalMuscle12
Skin7.65
SmoothMuscle11.35
Spinalcord10.7
SubthalamicNucleus8.9
SuperiorCervicalGanglion12.05
TemporalLobe9.9
Testis8.5
TestisGermCell8.15
TestisIntersitial8.2
TestisLeydigCell9.75
TestisSeminiferousTubule10.9
Thalamus10.05
Thymus7.95
Thyroid12.55
Tongue10.55
Tonsil9.7
Trachea8.3
TrigeminalGanglion10.35
Uterus7.85
UterusCorpus9
WholeBlood17.6
Wholebrain8.05
colon10
pineal_day11.96
pineal_night11.48
retina12.25
small_intestine9.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_453_PI416408490
  • 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
Amygdala2.94 ± 0.89
Basal Forebrain2.75 ± 0.29
Basal Part of Pons2.21 ± 0.29
Cerebellar Cortex2.89 ± 0.55
Cerebellar Nuclei2.81 ± 0.61
Claustrum3.05 ± 0.57
Epithalamus2.22 ± 0.88
Frontal Lobe2.42 ± 0.65
Globus Pallidus2.33 ± 0.46
Hypothalamus2.38 ± 0.69
Insula2.39 ± 0.51
Limbic Lobe2.47 ± 0.67
Mesencephalon2.76 ± 0.77
Myelencephalon2.57 ± 0.65
Occipital Lobe2.67 ± 0.5
Parietal Lobe2.58 ± 0.73
Pontine Tegmentum2.57 ± 0.65
Striatum2.45 ± 0.7
Subthalamus2.67 ± 0.74
Temporal Lobe2.61 ± 0.71
Thalamus2.49 ± 0.6
White Matter2.75 ± 0.78
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mecp2CBCerebellum87.31
41.91
Mecp2CTXCerebral cortex100
46.87
Mecp2HIPHippocampal region94.74
54.18
Mecp2HPFHippocampal formation94
50.31
Mecp2HYHypothalamus70.8
31.74
Mecp2LSXLateral septal complex93.83
38.97
Mecp2MBMidbrain48.69
22.72
Mecp2MYMedulla50.87
28.12
Mecp2OLFOlfactory bulb100
55.62
Mecp2PPons34.44
17.96
Mecp2PALPallidum48.2
24.62
Mecp2RHPRetrohippocampal region95.34
45.52
Mecp2sAMYStriatum-like amygdalar nuclei84.61
39.46
Mecp2STRStriatum62.02
26.99
Mecp2STRdStriatum dorsal region52.57
22.38
Mecp2STRvStriatum ventral region69.54
30.36
Mecp2THThalamus51.36
22.44
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00352932 14 271 284 KPGSVVAAAAAEAK Peptide Atlas

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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