AutismKB 2.0

Annotation Detail for MADD


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Basic Information Top
Gene Symbol:MADD ( DENN,FLJ35600,FLJ36300,IG20,KIAA0358,RAB3GEP )
Gene Full Name: MAP-kinase activating death domain
Band: 11p11.2
Quick LinksEntrez ID:8567; OMIM: 603584; Uniprot ID:MADD_HUMAN; ENSEMBL ID: ENSG00000110514; HGNC ID: 6766
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 
fetus33 / 56401258
neonate2 / 3109764
infant3 / 23620127
juvenile2 / 5555635
adult142 / 193912173
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) tumor4 / 9417842
cervical tumor2 / 3436658
chondrosarcoma8 / 8282396
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor11 / 11936992
germ cell tumor16 / 26384560
glioma9 / 10688384
head and neck tumor3 / 13630222
kidney tumor4 / 6895958
leukemia5 / 9584252
liver tumor2 / 9635920
lung tumor6 / 10312758
lymphoma3 / 7175541
non-neoplasia9 / 9725092
normal261 / 336030777
ovarian tumor4 / 7668252
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer5 / 10268048
retinoblastoma6 / 46356129
skin tumor4 / 12494932
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites4 / 4001599
bladder1 / 2975733
blood4 / 12347832
bone5 / 7165569
bone marrow1 / 4880120
brain156 / 1100989141
cervix2 / 4817141
connective tissue7 / 14925546
ear1 / 1621261
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye25 / 211054118
heart1 / 8962611
intestine21 / 23447289
kidney8 / 21177737
larynx0 / 241450 
liver4 / 20774319
lung15 / 33697444
lymph0 / 442700 
lymph node8 / 9161087
mammary gland8 / 15327152
mouth2 / 6705229
muscle9 / 10771583
nerve1 / 1576863
ovary9 / 10205188
pancreas10 / 21481246
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland3 / 16585180
placenta11 / 28082539
prostate8 / 18934542
salivary gland0 / 201550 
skin13 / 21057461
spleen5 / 5395292
stomach5 / 9661951
testis39 / 330442118
thymus5 / 8113161
thyroid0 / 474730 
tonsil1 / 1699958
trachea2 / 5241338
umbilical cord2 / 13680146
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210252_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts36.05
Adipocyte24.45
AdrenalCortex30.5
Adrenalgland24.3
Amygdala70.25
Appendix28.5
AtrioventricularNode22.1
BDCA4+_DentriticCells61.2
Bonemarrow29.55
BronchialEpithelialCells19.95
CD105+_Endothelial29.5
CD14+_Monocytes68
CD19+_BCells(neg._sel.)57
CD33+_Myeloid76.9
CD34+63.35
CD4+_Tcells94.1
CD56+_NKCells163.75
CD71+_EarlyErythroid25.15
CD8+_Tcells83.3
CardiacMyocytes31.3
Caudatenucleus24.65
Cerebellum55.9
CerebellumPeduncles57.65
CiliaryGanglion18.4
CingulateCortex44.5
Colorectaladenocarcinoma32.9
DorsalRootGanglion20.6
FetalThyroid26.65
Fetalbrain41.8
Fetalliver21
Fetallung21.35
GlobusPallidus28.4
Heart34.55
Hypothalamus59.15
Kidney21.15
Leukemia_chronicMyelogenousK-56225
Leukemia_promyelocytic-HL-6023.15
Leukemialymphoblastic(MOLT-4)20.15
Liver29.35
Lung37.1
Lymphnode34.8
Lymphoma_burkitts(Daudi)37.6
Lymphoma_burkitts(Raji)44.55
MedullaOblongata33.8
OccipitalLobe50.85
OlfactoryBulb20.15
Ovary18.75
Pancreas23.5
PancreaticIslet27.15
ParietalLobe35.65
Pituitary36.55
Placenta23.65
Pons36.7
PrefrontalCortex87.35
Prostate50.65
Salivarygland20.3
SkeletalMuscle29.9
Skin21.9
SmoothMuscle21.45
Spinalcord28.4
SubthalamicNucleus41.35
SuperiorCervicalGanglion32.35
TemporalLobe40.5
Testis25.55
TestisGermCell24.6
TestisIntersitial24.4
TestisLeydigCell28.7
TestisSeminiferousTubule30.9
Thalamus42.85
Thymus24.85
Thyroid30.4
Tongue30.75
Tonsil26.65
Trachea19.5
TrigeminalGanglion32.1
Uterus20.4
UterusCorpus25.5
WholeBlood34.5
Wholebrain91.75
colon25.5
pineal_day484.64
pineal_night437.48
retina60.85
small_intestine23.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P202708
  • 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
Amygdala7.58 ± 0.84
Basal Forebrain8.04 ± 0.36
Basal Part of Pons8.44 ± 0.46
Cerebellar Cortex8.69 ± 0.36
Cerebellar Nuclei7.78 ± 0.51
Claustrum7.88 ± 0.58
Epithalamus7.99 ± 0.49
Frontal Lobe8.45 ± 0.47
Globus Pallidus6.97 ± 0.33
Hypothalamus8.31 ± 0.4
Insula8.56 ± 0.34
Limbic Lobe8.24 ± 0.68
Mesencephalon8.06 ± 0.57
Myelencephalon8.11 ± 0.6
Occipital Lobe7.62 ± 0.69
Parietal Lobe8.19 ± 0.55
Pontine Tegmentum8.06 ± 0.55
Striatum7.1 ± 0.62
Subthalamus8.56 ± 0.46
Temporal Lobe8.45 ± 0.45
Thalamus8.05 ± 0.43
White Matter7.1 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
MaddCBCerebellum100
100
MaddCTXCerebral cortex100
100
MaddHIPHippocampal region100
100
MaddHPFHippocampal formation100
100
MaddHYHypothalamus100
100
MaddLSXLateral septal complex100
100
MaddMBMidbrain100
100
MaddMYMedulla100
100
MaddOLFOlfactory bulb100
100
MaddPPons100
100
MaddPALPallidum100
100
MaddRHPRetrohippocampal region100
100
MaddsAMYStriatum-like amygdalar nuclei100
100
MaddSTRStriatum100
100
MaddSTRdStriatum dorsal region100
100
MaddSTRvStriatum ventral region100
100
MaddTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00075331 16 856 871 NHSTSFSLSNLTLPTK 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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