AutismKB 2.0

Annotation Detail for MAD2L1


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Basic Information Top
Gene Symbol:MAD2L1 ( HSMAD2,MAD2 )
Gene Full Name: MAD2 mitotic arrest deficient-like 1 (yeast)
Band: 4q27
Quick LinksEntrez ID:4085; OMIM: 601467; Uniprot ID:MD2L1_HUMAN; ENSEMBL ID: ENSG00000164109; HGNC ID: 6763
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 body6 / 7076184
blastocyst8 / 62319128
fetus18 / 56401231
neonate0 / 310970 
infant9 / 23620381
juvenile3 / 5555653
adult26 / 193912113
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor2 / 9417821
cervical tumor2 / 3436658
chondrosarcoma5 / 8282360
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor17 / 26384564
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor5 / 6895972
leukemia12 / 95842125
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma11 / 71755153
non-neoplasia0 / 972500 
normal99 / 336030729
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS20 / 125680159
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor11 / 12494988
soft tissue/muscle tissue tumor14 / 125191111
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
ascites1 / 4001524
bladder0 / 297570 
blood12 / 12347897
bone7 / 7165597
bone marrow11 / 48801225
brain28 / 110098925
cervix8 / 48171166
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue19 / 21572288
esophagus1 / 2020949
eye3 / 21105414
heart2 / 8962622
intestine6 / 23447225
kidney14 / 21177766
larynx0 / 241450 
liver7 / 20774333
lung7 / 33697420
lymph6 / 44270135
lymph node5 / 9161054
mammary gland2 / 15327113
mouth0 / 670520 
muscle10 / 10771592
nerve0 / 157680 
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta1 / 2808253
prostate2 / 18934510
salivary gland2 / 2015599
skin11 / 21057452
spleen1 / 5395218
stomach2 / 9661920
testis21 / 33044263
thymus4 / 8113149
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203362_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts369.05
Adipocyte9.4
AdrenalCortex15.1
Adrenalgland8.95
Amygdala10.5
Appendix15.3
AtrioventricularNode10.35
BDCA4+_DentriticCells15.45
Bonemarrow46.4
BronchialEpithelialCells162.15
CD105+_Endothelial267.05
CD14+_Monocytes10.8
CD19+_BCells(neg._sel.)10.4
CD33+_Myeloid18.25
CD34+104.1
CD4+_Tcells9.85
CD56+_NKCells10.85
CD71+_EarlyErythroid70.25
CD8+_Tcells9.95
CardiacMyocytes52.35
Caudatenucleus8.6
Cerebellum7.95
CerebellumPeduncles12.5
CiliaryGanglion12.05
CingulateCortex10.45
Colorectaladenocarcinoma344.1
DorsalRootGanglion11.25
FetalThyroid9.85
Fetalbrain8.85
Fetalliver45.5
Fetallung7.85
GlobusPallidus7.85
Heart18.75
Hypothalamus10.3
Kidney9.2
Leukemia_chronicMyelogenousK-56277.15
Leukemia_promyelocytic-HL-60504.35
Leukemialymphoblastic(MOLT-4)470.95
Liver15
Lung10.45
Lymphnode9.6
Lymphoma_burkitts(Daudi)336.3
Lymphoma_burkitts(Raji)156.8
MedullaOblongata9.3
OccipitalLobe8.1
OlfactoryBulb7.25
Ovary7.35
Pancreas8.6
PancreaticIslet10.55
ParietalLobe11.4
Pituitary10.7
Placenta9.35
Pons9.85
PrefrontalCortex11.05
Prostate11.2
Salivarygland8.2
SkeletalMuscle14.45
Skin11.3
SmoothMuscle12.25
Spinalcord9.9
SubthalamicNucleus10.05
SuperiorCervicalGanglion23.3
TemporalLobe9.05
Testis49.6
TestisGermCell13.9
TestisIntersitial9.75
TestisLeydigCell11.2
TestisSeminiferousTubule12.2
Thalamus9.9
Thymus62.75
Thyroid11.35
Tongue11.15
Tonsil20.6
Trachea7.65
TrigeminalGanglion14.15
Uterus7.6
UterusCorpus10.25
WholeBlood10.25
Wholebrain10.5
colon247.1
pineal_day11.6
pineal_night11.24
retina11.175
small_intestine265.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16420_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
Amygdala4.77 ± 0.4
Basal Forebrain4.39 ± 0.56
Basal Part of Pons4.7 ± 0.35
Cerebellar Cortex4.71 ± 0.27
Cerebellar Nuclei4.11 ± 0.52
Claustrum4.37 ± 0.7
Epithalamus4.8 ± 0.37
Frontal Lobe4.6 ± 0.55
Globus Pallidus3.25 ± 0.62
Hypothalamus4.81 ± 0.43
Insula4.54 ± 0.48
Limbic Lobe4.7 ± 0.52
Mesencephalon4.49 ± 0.62
Myelencephalon4.45 ± 0.57
Occipital Lobe4.75 ± 0.42
Parietal Lobe4.53 ± 0.5
Pontine Tegmentum4.58 ± 0.63
Striatum4.55 ± 0.57
Subthalamus4.55 ± 0.55
Temporal Lobe4.51 ± 0.54
Thalamus4.14 ± 0.5
White Matter3.67 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mad2l1CBCerebellum4.5
7.25
Mad2l1CTXCerebral cortex0.54
0.69
Mad2l1HIPHippocampal region1.09
1.47
Mad2l1HPFHippocampal formation0.85
1.25
Mad2l1HYHypothalamus0.4
1.21
Mad2l1LSXLateral septal complex0.07
0.05
Mad2l1MBMidbrain0.61
1.21
Mad2l1MYMedulla0.5
0.69
Mad2l1OLFOlfactory bulb0.86
0.91
Mad2l1PPons0.74
1.13
Mad2l1PALPallidum0.28
0.34
Mad2l1RHPRetrohippocampal region0.44
0.95
Mad2l1sAMYStriatum-like amygdalar nuclei0.41
0.35
Mad2l1STRStriatum0.3
0.38
Mad2l1STRdStriatum dorsal region0.31
0.45
Mad2l1STRvStriatum ventral region0.26
0.22
Mad2l1THThalamus0.45
0.61
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00081262 16 167 182 WEESGPQFITNSEEVR 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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