AutismKB 2.0

Annotation Detail for MBD5


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Basic Information Top
Gene Symbol:MBD5 ( FLJ11113,FLJ30517,KIAA1461,MRD1 )
Gene Full Name: methyl-CpG binding domain protein 5
Band: 2q23.2
Quick LinksEntrez ID:55777; OMIM: 611472; Uniprot ID:MBD5_HUMAN; ENSEMBL ID: ENSG00000204406; HGNC ID: 20444
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
blastocyst2 / 6231932
fetus23 / 56401240
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult39 / 193912120
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor0 / 2638450 
glioma3 / 10688328
head and neck tumor4 / 13630229
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia4 / 9725041
normal80 / 336030723
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder1 / 2975733
blood0 / 1234780 
bone4 / 7165555
bone marrow0 / 488010 
brain30 / 110098927
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine4 / 23447217
kidney1 / 2117774
larynx0 / 241450 
liver1 / 2077434
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland1 / 1532716
mouth2 / 6705229
muscle3 / 10771527
nerve0 / 157680 
ovary1 / 1020519
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta6 / 28082521
prostate3 / 18934515
salivary gland0 / 201550 
skin4 / 21057418
spleen2 / 5395237
stomach5 / 9661951
testis5 / 33044215
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_214_PI416573500
  • 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
Amygdala7.32 ± 0.31
Basal Forebrain7.14 ± 0.14
Basal Part of Pons6.8 ± 0.29
Cerebellar Cortex7.35 ± 0.15
Cerebellar Nuclei6.65 ± 0.28
Claustrum7.35 ± 0.57
Epithalamus6.79 ± 0.18
Frontal Lobe7 ± 0.28
Globus Pallidus6.4 ± 0.2
Hypothalamus6.88 ± 0.31
Insula7.09 ± 0.21
Limbic Lobe7.28 ± 0.34
Mesencephalon7.1 ± 0.29
Myelencephalon7.05 ± 0.3
Occipital Lobe7.37 ± 0.21
Parietal Lobe7.11 ± 0.3
Pontine Tegmentum7.04 ± 0.31
Striatum7.04 ± 0.28
Subthalamus6.84 ± 0.11
Temporal Lobe7.09 ± 0.29
Thalamus6.98 ± 0.24
White Matter6.96 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mbd5CBCerebellum25.34
32.04
Mbd5CTXCerebral cortex90.83
72.08
Mbd5HIPHippocampal region78.84
100
Mbd5HPFHippocampal formation78.81
100
Mbd5HYHypothalamus33.58
24.7
Mbd5LSXLateral septal complex67.44
48.96
Mbd5MBMidbrain47.04
39.81
Mbd5MYMedulla46.18
46.34
Mbd5OLFOlfactory bulb69.35
55.5
Mbd5PPons42.95
41.94
Mbd5PALPallidum42.17
34.77
Mbd5RHPRetrohippocampal region80.34
67.79
Mbd5sAMYStriatum-like amygdalar nuclei50.97
34.44
Mbd5STRStriatum72.05
51.33
Mbd5STRdStriatum dorsal region78.3
56.95
Mbd5STRvStriatum ventral region63.78
42.85
Mbd5THThalamus56.19
45.35
Peptide Top

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