AutismKB 2.0

Annotation Detail for MED13L


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Basic Information Top
Gene Symbol:MED13L ( DKFZp781D0112,FLJ21627,KIAA1025,PROSIT240,THRAP2,TRAP240L )
Gene Full Name: mediator complex subunit 13-like
Band: 12q24.21
Quick LinksEntrez ID:23389; OMIM: 608771; Uniprot ID:MD13L_HUMAN; ENSEMBL ID: ENSG00000123066; HGNC ID: 22962
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
blastocyst7 / 62319112
fetus43 / 56401276
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult129 / 193912166
embryoid body0 / 707610 
blastocyst0 / 623190 
fetus2 / 5640123
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult8 / 19391214
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) tumor10 / 94178106
cervical tumor1 / 3436629
chondrosarcoma6 / 8282372
colorectal tumor12 / 114246105
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor18 / 26384568
glioma0 / 1068830 
head and neck tumor15 / 136302110
kidney tumor0 / 689590 
leukemia10 / 95842104
liver tumor1 / 9635910
lung tumor6 / 10312758
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal172 / 336030751
ovarian tumor5 / 7668265
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer3 / 10268029
retinoblastoma3 / 4635664
skin tumor4 / 12494932
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal8 / 33603072
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood9 / 12347872
bone4 / 7165555
bone marrow9 / 48801184
brain36 / 110098932
cervix1 / 4817120
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye13 / 21105461
heart3 / 8962633
intestine14 / 23447259
kidney10 / 21177747
larynx5 / 24145207
liver4 / 20774319
lung21 / 33697462
lymph1 / 4427022
lymph node7 / 9161076
mammary gland22 / 153271143
mouth4 / 6705259
muscle10 / 10771592
nerve0 / 157680 
ovary5 / 10205148
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx6 / 41328145
pituitary gland1 / 1658560
placenta17 / 28082560
prostate5 / 18934526
salivary gland2 / 2015599
skin10 / 21057447
spleen0 / 539520 
stomach4 / 9661941
testis16 / 33044248
thymus5 / 8113161
thyroid1 / 4747321
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus11 / 23287847
vascular1 / 5178019
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain3 / 11009892
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate3 / 18934515
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach1 / 9661910
testis1 / 3304423
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212207_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.4
Adipocyte11.7
AdrenalCortex16.3
Adrenalgland10.55
Amygdala9.85
Appendix14
AtrioventricularNode14.7
BDCA4+_DentriticCells30.6
Bonemarrow12.95
BronchialEpithelialCells11
CD105+_Endothelial11.55
CD14+_Monocytes35.2
CD19+_BCells(neg._sel.)25.8
CD33+_Myeloid26.5
CD34+24.55
CD4+_Tcells19.45
CD56+_NKCells28.05
CD71+_EarlyErythroid24.35
CD8+_Tcells14.45
CardiacMyocytes17.85
Caudatenucleus9.85
Cerebellum9.9
CerebellumPeduncles16.7
CiliaryGanglion13.2
CingulateCortex20.1
Colorectaladenocarcinoma10.85
DorsalRootGanglion13.4
FetalThyroid11.9
Fetalbrain19.2
Fetalliver9.9
Fetallung8
GlobusPallidus9.95
Heart20
Hypothalamus10.9
Kidney10.65
Leukemia_chronicMyelogenousK-56213.45
Leukemia_promyelocytic-HL-6010.4
Leukemialymphoblastic(MOLT-4)10.75
Liver12.9
Lung10.75
Lymphnode10.15
Lymphoma_burkitts(Daudi)15.05
Lymphoma_burkitts(Raji)17.4
MedullaOblongata9.65
OccipitalLobe10.05
OlfactoryBulb11.05
Ovary9.8
Pancreas10.55
PancreaticIslet12.45
ParietalLobe13.45
Pituitary12.8
Placenta11.6
Pons11.65
PrefrontalCortex12.8
Prostate11.2
Salivarygland12.4
SkeletalMuscle16.7
Skin13.1
SmoothMuscle12.35
Spinalcord11.7
SubthalamicNucleus18.45
SuperiorCervicalGanglion17.85
TemporalLobe11.15
Testis9
TestisGermCell8.75
TestisIntersitial9.8
TestisLeydigCell12.45
TestisSeminiferousTubule9.75
Thalamus13.1
Thymus8
Thyroid13.1
Tongue13.2
Tonsil11.7
Trachea9.25
TrigeminalGanglion22.7
Uterus21.65
UterusCorpus12.05
WholeBlood12.6
Wholebrain7.5
colon10.75
pineal_day18.1
pineal_night14.88
retina12.625
small_intestine11.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P911508
  • 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
Amygdala5.88 ± 0.61
Basal Forebrain6.18 ± 0.16
Basal Part of Pons6.05 ± 0.57
Cerebellar Cortex6.68 ± 0.27
Cerebellar Nuclei5.84 ± 0.55
Claustrum5.84 ± 0.84
Epithalamus6.75 ± 0.36
Frontal Lobe6.11 ± 0.46
Globus Pallidus5.77 ± 0.32
Hypothalamus5.99 ± 0.41
Insula6.25 ± 0.33
Limbic Lobe6.13 ± 0.47
Mesencephalon6.01 ± 0.46
Myelencephalon6.06 ± 0.52
Occipital Lobe6.15 ± 0.37
Parietal Lobe6.14 ± 0.48
Pontine Tegmentum6.12 ± 0.52
Striatum5.87 ± 0.48
Subthalamus6.07 ± 0.88
Temporal Lobe6.17 ± 0.35
Thalamus5.97 ± 0.43
White Matter6.65 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Thrap2CBCerebellum5.71
5.09
Thrap2CTXCerebral cortex30.71
21.52
Thrap2HIPHippocampal region23.44
25.36
Thrap2HPFHippocampal formation19.39
18.38
Thrap2HYHypothalamus3.6
2.53
Thrap2LSXLateral septal complex3.86
2.54
Thrap2MBMidbrain1.09
0.92
Thrap2MYMedulla2.9
3.36
Thrap2OLFOlfactory bulb34.01
26.81
Thrap2PPons3.84
3.72
Thrap2PALPallidum6.46
5.12
Thrap2RHPRetrohippocampal region13.74
10.02
Thrap2sAMYStriatum-like amygdalar nuclei2.89
1.8
Thrap2STRStriatum5.98
4.23
Thrap2STRdStriatum dorsal region4.32
2.98
Thrap2STRvStriatum ventral region13.53
9.4
Thrap2THThalamus3.24
2.4
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp01039393 15 1940 1954 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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