AutismKB 2.0

Annotation Detail for MED12


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Basic Information Top
Gene Symbol:MED12 ( ARC240,CAGH45,FGS1,HOPA,KIAA0192,OKS,OPA1,TNRC11,TRAP230 )
Gene Full Name: mediator complex subunit 12
Band: Xq13.1
Quick LinksEntrez ID:9968; OMIM: 300188; Uniprot ID:MED12_HUMAN; ENSEMBL ID: ENSG00000184634; HGNC ID: 11957
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 body5 / 7076170
blastocyst2 / 6231932
fetus22 / 56401239
neonate1 / 3109732
infant2 / 2362084
juvenile1 / 5555617
adult74 / 193912138
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma3 / 17475171
breast (mammary gland) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma1 / 8282312
colorectal tumor11 / 11424696
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor9 / 26384534
glioma6 / 10688356
head and neck tumor11 / 13630280
kidney tumor1 / 6895914
leukemia10 / 95842104
liver tumor1 / 9635910
lung tumor6 / 10312758
lymphoma2 / 7175527
non-neoplasia3 / 9725030
normal121 / 336030736
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer5 / 10268048
retinoblastoma3 / 4635664
skin tumor4 / 12494932
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites0 / 400150 
bladder2 / 2975767
blood4 / 12347832
bone0 / 716550 
bone marrow14 / 48801286
brain46 / 110098941
cervix2 / 4817141
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye8 / 21105437
heart0 / 896260 
intestine12 / 23447251
kidney1 / 2117774
larynx3 / 24145124
liver4 / 20774319
lung13 / 33697438
lymph2 / 4427045
lymph node15 / 91610163
mammary gland6 / 15327139
mouth7 / 67052104
muscle7 / 10771564
nerve0 / 157680 
ovary2 / 10205119
pancreas3 / 21481213
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta9 / 28082532
prostate7 / 18934536
salivary gland0 / 201550 
skin8 / 21057437
spleen4 / 5395274
stomach2 / 9661920
testis21 / 33044263
thymus8 / 8113198
thyroid3 / 4747363
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord3 / 13680219
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211342_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts60.1
Adipocyte22.2
AdrenalCortex54.4
Adrenalgland57.8
Amygdala23.4
Appendix20.45
AtrioventricularNode15.15
BDCA4+_DentriticCells85.05
Bonemarrow20.9
BronchialEpithelialCells19.65
CD105+_Endothelial69.7
CD14+_Monocytes41.05
CD19+_BCells(neg._sel.)77.35
CD33+_Myeloid87.75
CD34+106.5
CD4+_Tcells95.75
CD56+_NKCells67.5
CD71+_EarlyErythroid51.3
CD8+_Tcells121.1
CardiacMyocytes27.45
Caudatenucleus21.15
Cerebellum20.65
CerebellumPeduncles23.65
CiliaryGanglion13.2
CingulateCortex21.65
Colorectaladenocarcinoma52.95
DorsalRootGanglion15.95
FetalThyroid24
Fetalbrain20.95
Fetalliver20.55
Fetallung27.45
GlobusPallidus13.65
Heart41.95
Hypothalamus20.5
Kidney17
Leukemia_chronicMyelogenousK-56227.6
Leukemia_promyelocytic-HL-6018.45
Leukemialymphoblastic(MOLT-4)89.05
Liver28.45
Lung30.25
Lymphnode29.6
Lymphoma_burkitts(Daudi)39.85
Lymphoma_burkitts(Raji)46.4
MedullaOblongata17.55
OccipitalLobe21.05
OlfactoryBulb17.1
Ovary23.05
Pancreas16.8
PancreaticIslet19.7
ParietalLobe22.2
Pituitary24.6
Placenta132.25
Pons23.45
PrefrontalCortex24.7
Prostate31.9
Salivarygland16.1
SkeletalMuscle24.3
Skin14.85
SmoothMuscle23.25
Spinalcord26.7
SubthalamicNucleus17.6
SuperiorCervicalGanglion22.55
TemporalLobe16.6
Testis20.4
TestisGermCell37.75
TestisIntersitial17.65
TestisLeydigCell27.5
TestisSeminiferousTubule26
Thalamus20.35
Thymus64.2
Thyroid35.45
Tongue21.7
Tonsil45.55
Trachea20
TrigeminalGanglion18.65
Uterus40.35
UterusCorpus18.85
WholeBlood70
Wholebrain17.95
colon20.3
pineal_day182.62
pineal_night102.5
retina58.9
small_intestine20.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12251_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
Amygdala3.93 ± 0.99
Basal Forebrain3.38 ± 0.67
Basal Part of Pons3.46 ± 0.59
Cerebellar Cortex3.53 ± 0.64
Cerebellar Nuclei3.79 ± 0.51
Claustrum4.2 ± 0.87
Epithalamus3.8 ± 0.54
Frontal Lobe3.39 ± 0.72
Globus Pallidus4.49 ± 0.55
Hypothalamus3.81 ± 0.66
Insula3.84 ± 0.6
Limbic Lobe3.54 ± 0.74
Mesencephalon3.75 ± 0.78
Myelencephalon3.51 ± 0.63
Occipital Lobe3.94 ± 0.54
Parietal Lobe3.6 ± 0.7
Pontine Tegmentum3.7 ± 0.69
Striatum3.69 ± 0.68
Subthalamus3.29 ± 0.73
Temporal Lobe3.53 ± 0.61
Thalamus3.63 ± 0.57
White Matter4.5 ± 0.83
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Med12CBCerebellum58.21
68.68
Med12CTXCerebral cortex44.77
27.47
Med12HIPHippocampal region47.56
57.48
Med12HPFHippocampal formation54.22
52.37
Med12HYHypothalamus18.71
12.11
Med12LSXLateral septal complex16.24
9.55
Med12MBMidbrain22.24
17.5
Med12MYMedulla41.96
39.64
Med12OLFOlfactory bulb56.44
42.32
Med12PPons30.9
26.55
Med12PALPallidum16.84
11.79
Med12RHPRetrohippocampal region66.14
46.73
Med12sAMYStriatum-like amygdalar nuclei23.79
15
Med12STRStriatum19.71
12.64
Med12STRdStriatum dorsal region18.66
12.44
Med12STRvStriatum ventral region22.07
12.77
Med12THThalamus27.9
20.2
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00009466 10 541 550 CGESEAADEK 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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