AutismKB 2.0

Annotation Detail for MBD1


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Basic Information Top
Gene Symbol:MBD1 ( CXXC3,PCM1,RFT )
Gene Full Name: methyl-CpG binding domain protein 1
Band: 18q21.1
Quick LinksEntrez ID:4152; OMIM: 156535; Uniprot ID:MBD1_HUMAN; ENSEMBL ID: ENSG00000141644; HGNC ID: 6916
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
blastocyst9 / 62319144
fetus43 / 56401276
neonate1 / 3109732
infant0 / 236200 
juvenile4 / 5555671
adult163 / 193912184
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma2 / 17475114
breast (mammary gland) tumor4 / 9417842
cervical tumor2 / 3436658
chondrosarcoma11 / 82823132
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor9 / 11936975
germ cell tumor27 / 263845102
glioma2 / 10688318
head and neck tumor8 / 13630258
kidney tumor1 / 6895914
leukemia6 / 9584262
liver tumor12 / 96359124
lung tumor8 / 10312777
lymphoma1 / 7175513
non-neoplasia5 / 9725051
normal307 / 336030791
ovarian tumor6 / 7668278
pancreatic tumor7 / 10461666
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer8 / 10268077
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland3 / 3319790
ascites2 / 4001549
bladder2 / 2975767
blood5 / 12347840
bone11 / 71655153
bone marrow5 / 48801102
brain99 / 110098989
cervix2 / 4817141
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue16 / 21572274
esophagus0 / 202090 
eye33 / 211054156
heart12 / 89626133
intestine19 / 23447281
kidney10 / 21177747
larynx0 / 241450 
liver14 / 20774367
lung21 / 33697462
lymph0 / 442700 
lymph node4 / 9161043
mammary gland4 / 15327126
mouth7 / 67052104
muscle3 / 10771527
nerve0 / 157680 
ovary7 / 10205168
pancreas12 / 21481255
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta14 / 28082549
prostate18 / 18934595
salivary gland0 / 201550 
skin9 / 21057442
spleen3 / 5395255
stomach7 / 9661972
testis77 / 330442233
thymus13 / 81131160
thyroid2 / 4747342
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus17 / 23287872
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203353_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts108.45
Adipocyte87.55
AdrenalCortex88.35
Adrenalgland122.15
Amygdala116.35
Appendix53.45
AtrioventricularNode42
BDCA4+_DentriticCells316.3
Bonemarrow92.4
BronchialEpithelialCells157.2
CD105+_Endothelial250.4
CD14+_Monocytes149.1
CD19+_BCells(neg._sel.)320.95
CD33+_Myeloid321.7
CD34+261.2
CD4+_Tcells302.35
CD56+_NKCells443.45
CD71+_EarlyErythroid51.65
CD8+_Tcells404.3
CardiacMyocytes23.55
Caudatenucleus86.3
Cerebellum93.4
CerebellumPeduncles98.7
CiliaryGanglion24.85
CingulateCortex93.25
Colorectaladenocarcinoma57.3
DorsalRootGanglion40.25
FetalThyroid81.25
Fetalbrain145.4
Fetalliver59.4
Fetallung84.95
GlobusPallidus53.75
Heart128.9
Hypothalamus122.9
Kidney91.05
Leukemia_chronicMyelogenousK-56237.2
Leukemia_promyelocytic-HL-60101.5
Leukemialymphoblastic(MOLT-4)93.35
Liver136.25
Lung180.45
Lymphnode163.25
Lymphoma_burkitts(Daudi)223.8
Lymphoma_burkitts(Raji)113.6
MedullaOblongata91.2
OccipitalLobe77.45
OlfactoryBulb61.5
Ovary52.15
Pancreas33
PancreaticIslet149.85
ParietalLobe99.55
Pituitary168.65
Placenta152.05
Pons71.65
PrefrontalCortex140.4
Prostate181.2
Salivarygland66.1
SkeletalMuscle125.95
Skin51.05
SmoothMuscle111.7
Spinalcord108.8
SubthalamicNucleus77.85
SuperiorCervicalGanglion51.85
TemporalLobe98.15
Testis95.55
TestisGermCell65.75
TestisIntersitial46.1
TestisLeydigCell50.55
TestisSeminiferousTubule96.4
Thalamus66.4
Thymus140.65
Thyroid126.7
Tongue85.6
Tonsil123.5
Trachea82.25
TrigeminalGanglion18.9
Uterus89.45
UterusCorpus97.65
WholeBlood140.1
Wholebrain146
colon89.55
pineal_day141.04
pineal_night143.12
retina95.75
small_intestine107.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P208090
  • 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
Amygdala5.53 ± 0.38
Basal Forebrain5.32 ± 0.33
Basal Part of Pons5.54 ± 0.25
Cerebellar Cortex5.75 ± 0.33
Cerebellar Nuclei5.17 ± 0.38
Claustrum5.37 ± 0.6
Epithalamus5.7 ± 0.43
Frontal Lobe5.78 ± 0.35
Globus Pallidus4.93 ± 0.32
Hypothalamus5.78 ± 0.29
Insula5.94 ± 0.32
Limbic Lobe5.6 ± 0.55
Mesencephalon5.47 ± 0.43
Myelencephalon5.57 ± 0.44
Occipital Lobe5.31 ± 0.55
Parietal Lobe5.67 ± 0.41
Pontine Tegmentum5.66 ± 0.47
Striatum5.18 ± 0.47
Subthalamus5.47 ± 0.69
Temporal Lobe5.76 ± 0.31
Thalamus5.48 ± 0.38
White Matter5.01 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mbd1CBCerebellum6.39
5.99
Mbd1CTXCerebral cortex13.69
8.86
Mbd1HIPHippocampal region13.31
11.32
Mbd1HPFHippocampal formation11.24
8.81
Mbd1HYHypothalamus0.81
0.61
Mbd1LSXLateral septal complex0.6
0.58
Mbd1MBMidbrain1.41
1.46
Mbd1MYMedulla5.27
5.35
Mbd1OLFOlfactory bulb12.71
9.1
Mbd1PPons2.25
2.26
Mbd1PALPallidum2.06
1.63
Mbd1RHPRetrohippocampal region7.43
5.08
Mbd1sAMYStriatum-like amygdalar nuclei7.26
4.63
Mbd1STRStriatum3.33
2.23
Mbd1STRdStriatum dorsal region3.07
2.09
Mbd1STRvStriatum ventral region2.15
1.45
Mbd1THThalamus2.93
2.17
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00012089 14 52 65 YLGPACDLTLFDFK 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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