AutismKB 2.0

Annotation Detail for MED13


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Basic Information Top
Gene Symbol:MED13 ( ARC250,DRIP250,HSPC221,KIAA0593,THRAP1,TRAP240 )
Gene Full Name: mediator complex subunit 13
Band: 17q23.2
Quick LinksEntrez ID:9969; OMIM: 603808; Uniprot ID:MED13_HUMAN; ENSEMBL ID: ENSG00000108510; HGNC ID: 22474
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 body9 / 70761127
blastocyst1 / 6231916
fetus44 / 56401278
neonate0 / 310970 
infant2 / 2362084
juvenile2 / 5555635
adult135 / 193912169
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) tumor7 / 9417874
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor2 / 17290115
gastrointestinal tumor12 / 119369100
germ cell tumor8 / 26384530
glioma3 / 10688328
head and neck tumor11 / 13630280
kidney tumor2 / 6895929
leukemia7 / 9584273
liver tumor11 / 96359114
lung tumor3 / 10312729
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal196 / 336030758
ovarian tumor2 / 7668226
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites2 / 4001549
bladder2 / 2975767
blood4 / 12347832
bone1 / 7165513
bone marrow4 / 4880181
brain30 / 110098927
cervix2 / 4817141
connective tissue4 / 14925526
ear2 / 16212123
embryonic tissue18 / 21572283
esophagus2 / 2020998
eye6 / 21105428
heart1 / 8962611
intestine12 / 23447251
kidney9 / 21177742
larynx0 / 241450 
liver15 / 20774372
lung14 / 33697441
lymph0 / 442700 
lymph node11 / 91610120
mammary gland22 / 153271143
mouth3 / 6705244
muscle10 / 10771592
nerve0 / 157680 
ovary3 / 10205129
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland1 / 1658560
placenta31 / 280825110
prostate9 / 18934547
salivary gland3 / 20155148
skin5 / 21057423
spleen3 / 5395255
stomach9 / 9661993
testis13 / 33044239
thymus3 / 8113136
thyroid5 / 47473105
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus17 / 23287872
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201987_at
Cell line Expression level Expression bar
721_B_lymphoblasts324.05
Adipocyte117.9
AdrenalCortex207.1
Adrenalgland84.7
Amygdala170.7
Appendix112.1
AtrioventricularNode55.3
BDCA4+_DentriticCells320.05
Bonemarrow78.4
BronchialEpithelialCells147.7
CD105+_Endothelial274.85
CD14+_Monocytes241.8
CD19+_BCells(neg._sel.)283.6
CD33+_Myeloid224
CD34+321.1
CD4+_Tcells426.35
CD56+_NKCells335.55
CD71+_EarlyErythroid307.9
CD8+_Tcells470.05
CardiacMyocytes137.1
Caudatenucleus116.05
Cerebellum83.7
CerebellumPeduncles172.5
CiliaryGanglion40.9
CingulateCortex172.7
Colorectaladenocarcinoma220.95
DorsalRootGanglion56.3
FetalThyroid122.8
Fetalbrain286.1
Fetalliver137.4
Fetallung172.7
GlobusPallidus57.5
Heart77.85
Hypothalamus144.95
Kidney74.7
Leukemia_chronicMyelogenousK-562165
Leukemia_promyelocytic-HL-60125.25
Leukemialymphoblastic(MOLT-4)154.2
Liver67.5
Lung76.3
Lymphnode185.3
Lymphoma_burkitts(Daudi)168.35
Lymphoma_burkitts(Raji)229.6
MedullaOblongata133.9
OccipitalLobe196.05
OlfactoryBulb135.45
Ovary78.8
Pancreas183.6
PancreaticIslet131.65
ParietalLobe159.4
Pituitary169.45
Placenta209.55
Pons112.8
PrefrontalCortex513.75
Prostate194.6
Salivarygland103.55
SkeletalMuscle122.4
Skin65.15
SmoothMuscle137.7
Spinalcord160
SubthalamicNucleus93.15
SuperiorCervicalGanglion111.15
TemporalLobe91.65
Testis58.85
TestisGermCell167.85
TestisIntersitial98.35
TestisLeydigCell112.8
TestisSeminiferousTubule133
Thalamus101.3
Thymus114.85
Thyroid255.9
Tongue99.75
Tonsil177.75
Trachea93.55
TrigeminalGanglion94.6
Uterus203.3
UterusCorpus116.35
WholeBlood298
Wholebrain90.8
colon232.75
pineal_day626.6
pineal_night482.18
retina205.975
small_intestine202.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P17077
  • 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
Amygdala9.17 ± 0.26
Basal Forebrain9.3 ± 0.09
Basal Part of Pons8.84 ± 0.21
Cerebellar Cortex9.31 ± 0.3
Cerebellar Nuclei8.95 ± 0.23
Claustrum8.94 ± 0.31
Epithalamus9.37 ± 0.25
Frontal Lobe9.05 ± 0.25
Globus Pallidus9.29 ± 0.19
Hypothalamus8.98 ± 0.13
Insula9 ± 0.18
Limbic Lobe9.19 ± 0.28
Mesencephalon9.16 ± 0.21
Myelencephalon9.12 ± 0.24
Occipital Lobe9.39 ± 0.24
Parietal Lobe9.14 ± 0.19
Pontine Tegmentum9.19 ± 0.28
Striatum9.22 ± 0.23
Subthalamus8.85 ± 0.16
Temporal Lobe9.13 ± 0.19
Thalamus9.08 ± 0.2
White Matter9.81 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Thrap1CBCerebellum39.84
45.6
Thrap1CTXCerebral cortex89.24
66.84
Thrap1HIPHippocampal region80.43
100
Thrap1HPFHippocampal formation76.67
95.44
Thrap1HYHypothalamus24.28
17.58
Thrap1LSXLateral septal complex26.98
17.39
Thrap1MBMidbrain24.98
20.22
Thrap1MYMedulla35.22
31.41
Thrap1OLFOlfactory bulb84.44
78.57
Thrap1PPons27.25
23.05
Thrap1PALPallidum27.81
21.48
Thrap1RHPRetrohippocampal region70.36
54.81
Thrap1sAMYStriatum-like amygdalar nuclei52.55
35.33
Thrap1STRStriatum71.16
51.61
Thrap1STRdStriatum dorsal region83.79
62.55
Thrap1STRvStriatum ventral region59.13
39.87
Thrap1THThalamus45.87
36.96
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MED13_HUMAN_1734 16 1734 1749 TLTGFGPGLAMETALR PRIDE
PAp01039393 15 1904 1918 ADSPSILSACLVAME 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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