AutismKB 2.0

Annotation Detail for MAD1L1


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Basic Information Top
Gene Symbol:MAD1L1 ( MAD1,PIG9,TP53I9,TXBP181 )
Gene Full Name: MAD1 mitotic arrest deficient-like 1 (yeast)
Band: 7p22.3
Quick LinksEntrez ID:8379; OMIM: 602686; Uniprot ID:MD1L1_HUMAN; ENSEMBL ID: ENSG00000002822; HGNC ID: 6762
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 body2 / 7076128
blastocyst2 / 6231932
fetus49 / 56401286
neonate1 / 3109732
infant3 / 23620127
juvenile3 / 5555653
adult162 / 193912183
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) tumor5 / 9417853
cervical tumor2 / 3436658
chondrosarcoma10 / 82823120
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor4 / 11936933
germ cell tumor35 / 263845132
glioma9 / 10688384
head and neck tumor10 / 13630273
kidney tumor8 / 68959116
leukemia5 / 9584252
liver tumor10 / 96359103
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal184 / 336030754
ovarian tumor0 / 766820 
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer1 / 1026809
retinoblastoma3 / 4635664
skin tumor37 / 124949296
soft tissue/muscle tissue tumor53 / 125191423
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites3 / 4001574
bladder0 / 297570 
blood6 / 12347848
bone8 / 71655111
bone marrow2 / 4880140
brain89 / 110098980
cervix2 / 4817141
connective tissue61 / 149255408
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus2 / 2020998
eye11 / 21105452
heart4 / 8962644
intestine6 / 23447225
kidney13 / 21177761
larynx4 / 24145165
liver19 / 20774391
lung6 / 33697417
lymph1 / 4427022
lymph node2 / 9161021
mammary gland5 / 15327132
mouth6 / 6705289
muscle3 / 10771527
nerve1 / 1576863
ovary1 / 1020519
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta18 / 28082564
prostate4 / 18934521
salivary gland1 / 2015549
skin43 / 210574204
spleen6 / 53952111
stomach1 / 9661910
testis38 / 330442114
thymus13 / 81131160
thyroid0 / 474730 
tonsil3 / 16999176
trachea3 / 5241357
umbilical cord0 / 136800 
uterus10 / 23287842
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204857_at
Cell line Expression level Expression bar
721_B_lymphoblasts29.1
Adipocyte5.6
AdrenalCortex6.5
Adrenalgland5
Amygdala6.45
Appendix6.15
AtrioventricularNode4.85
BDCA4+_DentriticCells87.05
Bonemarrow5.95
BronchialEpithelialCells13.25
CD105+_Endothelial18.95
CD14+_Monocytes163.7
CD19+_BCells(neg._sel.)163.95
CD33+_Myeloid21.6
CD34+21.2
CD4+_Tcells142.05
CD56+_NKCells270.5
CD71+_EarlyErythroid7.55
CD8+_Tcells181.6
CardiacMyocytes15.05
Caudatenucleus11.25
Cerebellum4.7
CerebellumPeduncles7.15
CiliaryGanglion4.4
CingulateCortex6.05
Colorectaladenocarcinoma32.35
DorsalRootGanglion4.7
FetalThyroid5.85
Fetalbrain5.6
Fetalliver5.05
Fetallung4.5
GlobusPallidus4.35
Heart51.95
Hypothalamus6.4
Kidney4.9
Leukemia_chronicMyelogenousK-56213.45
Leukemia_promyelocytic-HL-605.15
Leukemialymphoblastic(MOLT-4)4.45
Liver265
Lung124.85
Lymphnode7.9
Lymphoma_burkitts(Daudi)8.5
Lymphoma_burkitts(Raji)68.5
MedullaOblongata5.1
OccipitalLobe5.2
OlfactoryBulb4.55
Ovary3.95
Pancreas4.9
PancreaticIslet6.15
ParietalLobe7
Pituitary6.65
Placenta5.75
Pons5.55
PrefrontalCortex14.4
Prostate28.15
Salivarygland4.7
SkeletalMuscle8.05
Skin4.75
SmoothMuscle10.45
Spinalcord7.15
SubthalamicNucleus5.35
SuperiorCervicalGanglion7.3
TemporalLobe5.35
Testis14.45
TestisGermCell5.85
TestisIntersitial5.4
TestisLeydigCell6.3
TestisSeminiferousTubule6.15
Thalamus5.9
Thymus61.05
Thyroid10
Tongue5.9
Tonsil6.7
Trachea4.8
TrigeminalGanglion6.2
Uterus4.7
UterusCorpus7
WholeBlood70.85
Wholebrain17.6
colon8.2
pineal_day8.74
pineal_night17.8
retina8.2
small_intestine5.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11935_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
Amygdala5.23 ± 0.38
Basal Forebrain5.05 ± 0.5
Basal Part of Pons4.65 ± 0.44
Cerebellar Cortex4.74 ± 0.43
Cerebellar Nuclei4.39 ± 0.56
Claustrum5.26 ± 0.58
Epithalamus4.19 ± 0.35
Frontal Lobe4.71 ± 0.46
Globus Pallidus5.41 ± 0.48
Hypothalamus4.5 ± 0.49
Insula4.69 ± 0.54
Limbic Lobe5.03 ± 0.6
Mesencephalon4.93 ± 0.52
Myelencephalon4.86 ± 0.53
Occipital Lobe5.02 ± 0.61
Parietal Lobe4.91 ± 0.5
Pontine Tegmentum4.68 ± 0.57
Striatum4.66 ± 0.55
Subthalamus4.46 ± 0.24
Temporal Lobe4.81 ± 0.48
Thalamus4.6 ± 0.53
White Matter5.7 ± 0.57
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mad1l1CBCerebellum5.46
9.54
Mad1l1CTXCerebral cortex0.45
0.54
Mad1l1HIPHippocampal region1.79
2.27
Mad1l1HPFHippocampal formation1.57
1.71
Mad1l1HYHypothalamus0.47
0.52
Mad1l1LSXLateral septal complex1.22
1.64
Mad1l1MBMidbrain1.59
1.61
Mad1l1MYMedulla5.73
6.53
Mad1l1OLFOlfactory bulb0.79
1.53
Mad1l1PPons2.43
3.03
Mad1l1PALPallidum0.49
0.97
Mad1l1RHPRetrohippocampal region1.19
0.95
Mad1l1sAMYStriatum-like amygdalar nuclei1.17
2.2
Mad1l1STRStriatum0.63
1.06
Mad1l1STRdStriatum dorsal region0.34
0.54
Mad1l1STRvStriatum ventral region1.07
1.9
Mad1l1THThalamus0.48
0.57
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
MD1L1_HUMAN_1 15 1 15 MEDLGENTMVLSTLR PRIDE
MD1L1_HUMAN_542 13 542 554 VLHMSLNPTSVAR PRIDE
PAp00010839 14 557 570 LREDHSQLQAECER 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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