AutismKB 2.0

Annotation Detail for MDC1


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Basic Information Top
Gene Symbol:MDC1 ( DKFZp781A0122,KIAA0170,MGC166888,NFBD1 )
Gene Full Name: mediator of DNA-damage checkpoint 1
Band: 6p21.33
Quick LinksEntrez ID:9656; OMIM: 607593; Uniprot ID:MDC1_HUMAN; ENSEMBL ID: ENSG00000137337; HGNC ID: 21163
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 body3 / 7076142
blastocyst8 / 62319128
fetus34 / 56401260
neonate4 / 31097128
infant1 / 2362042
juvenile3 / 5555653
adult83 / 193912142
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor12 / 94178127
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor5 / 11424643
esophageal tumor1 / 1729057
gastrointestinal tumor1 / 1193698
germ cell tumor13 / 26384549
glioma9 / 10688384
head and neck tumor8 / 13630258
kidney tumor0 / 689590 
leukemia7 / 9584273
liver tumor8 / 9635983
lung tumor2 / 10312719
lymphoma3 / 7175541
non-neoplasia5 / 9725051
normal127 / 336030737
ovarian tumor2 / 7668226
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer3 / 10268029
retinoblastoma4 / 4635686
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder2 / 2975767
blood5 / 12347840
bone4 / 7165555
bone marrow2 / 4880140
brain35 / 110098931
cervix1 / 4817120
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus1 / 2020949
eye11 / 21105452
heart3 / 8962633
intestine10 / 23447242
kidney3 / 21177714
larynx2 / 2414582
liver18 / 20774386
lung13 / 33697438
lymph3 / 4427067
lymph node4 / 9161043
mammary gland15 / 15327197
mouth1 / 6705214
muscle4 / 10771537
nerve2 / 15768126
ovary2 / 10205119
pancreas10 / 21481246
parathyroid4 / 20539194
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate4 / 18934521
salivary gland1 / 2015549
skin1 / 2105744
spleen3 / 5395255
stomach0 / 966190 
testis19 / 33044257
thymus1 / 8113112
thyroid6 / 47473126
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord4 / 13680292
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203062_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts57.95
Adipocyte7.2
AdrenalCortex5.7
Adrenalgland5.5
Amygdala7.6
Appendix7.25
AtrioventricularNode5.5
BDCA4+_DentriticCells18.9
Bonemarrow7.2
BronchialEpithelialCells5.1
CD105+_Endothelial20
CD14+_Monocytes5.65
CD19+_BCells(neg._sel.)9.6
CD33+_Myeloid7.6
CD34+48.75
CD4+_Tcells26.05
CD56+_NKCells21.65
CD71+_EarlyErythroid17.25
CD8+_Tcells36.55
CardiacMyocytes8.2
Caudatenucleus5.1
Cerebellum5.3
CerebellumPeduncles6.8
CiliaryGanglion5
CingulateCortex5.8
Colorectaladenocarcinoma7
DorsalRootGanglion5.35
FetalThyroid7.1
Fetalbrain6.7
Fetalliver4.85
Fetallung6
GlobusPallidus4.9
Heart8.3
Hypothalamus8
Kidney4.25
Leukemia_chronicMyelogenousK-56256.9
Leukemia_promyelocytic-HL-6031.8
Leukemialymphoblastic(MOLT-4)9.35
Liver7.8
Lung8.05
Lymphnode9.55
Lymphoma_burkitts(Daudi)27.05
Lymphoma_burkitts(Raji)19.55
MedullaOblongata5.6
OccipitalLobe5.3
OlfactoryBulb6.8
Ovary4.55
Pancreas4.25
PancreaticIslet19.1
ParietalLobe6.05
Pituitary11.55
Placenta8.6
Pons6.55
PrefrontalCortex10.2
Prostate8.45
Salivarygland5.85
SkeletalMuscle8.55
Skin5.15
SmoothMuscle5.75
Spinalcord6.45
SubthalamicNucleus6.65
SuperiorCervicalGanglion7.6
TemporalLobe5.75
Testis81.9
TestisGermCell67.6
TestisIntersitial29.5
TestisLeydigCell20.15
TestisSeminiferousTubule11.35
Thalamus6.7
Thymus23.95
Thyroid12.3
Tongue7.05
Tonsil5.55
Trachea5.75
TrigeminalGanglion7.2
Uterus6.1
UterusCorpus6.35
WholeBlood7.15
Wholebrain6.1
colon6.85
pineal_day16.9
pineal_night13.3
retina17.75
small_intestine6.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13084_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
Amygdala4.02 ± 0.57
Basal Forebrain4.01 ± 0.48
Basal Part of Pons4.26 ± 0.26
Cerebellar Cortex4.52 ± 0.31
Cerebellar Nuclei4 ± 0.48
Claustrum3.92 ± 0.77
Epithalamus4.56 ± 0.43
Frontal Lobe4.08 ± 0.46
Globus Pallidus3.97 ± 0.56
Hypothalamus3.81 ± 0.49
Insula4.08 ± 0.43
Limbic Lobe3.96 ± 0.56
Mesencephalon4.16 ± 0.52
Myelencephalon4.07 ± 0.54
Occipital Lobe4.08 ± 0.54
Parietal Lobe4.08 ± 0.37
Pontine Tegmentum4.04 ± 0.5
Striatum3.81 ± 0.41
Subthalamus3.87 ± 0.23
Temporal Lobe4.21 ± 0.46
Thalamus4.15 ± 0.41
White Matter4.3 ± 0.57
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000154 24 1726 1749 AAGNPGSLAAPIDHKPCSAPLEPK 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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