AutismKB 2.0

Annotation Detail for MBNL1


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Basic Information Top
Gene Symbol:MBNL1 ( DKFZp686P06174,EXP,EXP35,EXP40,EXP42,KIAA0428,MBNL )
Gene Full Name: muscleblind-like (Drosophila)
Band: 3q25.1-q25.2
Quick LinksEntrez ID:4154; OMIM: 606516; Uniprot ID:MBNL1_HUMAN; ENSEMBL ID: ENSG00000152601; HGNC ID: 6923
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
blastocyst1 / 6231916
fetus50 / 56401288
neonate6 / 31097192
infant1 / 2362042
juvenile12 / 55556215
adult190 / 193912197
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma6 / 17475343
breast (mammary gland) tumor5 / 9417853
cervical tumor3 / 3436687
chondrosarcoma11 / 82823132
colorectal tumor10 / 11424687
esophageal tumor2 / 17290115
gastrointestinal tumor11 / 11936992
germ cell tumor41 / 263845155
glioma5 / 10688346
head and neck tumor18 / 136302132
kidney tumor14 / 68959203
leukemia12 / 95842125
liver tumor4 / 9635941
lung tumor0 / 1031270 
lymphoma8 / 71755111
non-neoplasia10 / 97250102
normal402 / 3360307119
ovarian tumor7 / 7668291
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer14 / 102680136
retinoblastoma0 / 463560 
skin tumor12 / 12494996
soft tissue/muscle tissue tumor18 / 125191143
uterine tumor16 / 90257177
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites2 / 4001549
bladder10 / 29757336
blood24 / 123478194
bone7 / 7165597
bone marrow12 / 48801245
brain44 / 110098939
cervix3 / 4817162
connective tissue21 / 149255140
ear2 / 16212123
embryonic tissue7 / 21572232
esophagus2 / 2020998
eye9 / 21105442
heart15 / 89626167
intestine26 / 234472110
kidney31 / 211777146
larynx4 / 24145165
liver29 / 207743139
lung23 / 33697468
lymph1 / 4427022
lymph node47 / 91610513
mammary gland20 / 153271130
mouth9 / 67052134
muscle32 / 107715297
nerve6 / 15768380
ovary9 / 10205188
pancreas19 / 21481288
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta12 / 28082542
prostate29 / 189345153
salivary gland7 / 20155347
skin35 / 210574166
spleen1 / 5395218
stomach9 / 9661993
testis19 / 33044257
thymus11 / 81131135
thyroid5 / 47473105
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord3 / 13680219
uterus66 / 232878283
vascular25 / 51780482
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201153_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts664.4
Adipocyte140.3
AdrenalCortex28.6
Adrenalgland13.4
Amygdala93.6
Appendix106.65
AtrioventricularNode23.1
BDCA4+_DentriticCells521.45
Bonemarrow39.85
BronchialEpithelialCells57.1
CD105+_Endothelial615.95
CD14+_Monocytes687.1
CD19+_BCells(neg._sel.)709.6
CD33+_Myeloid776.75
CD34+845.7
CD4+_Tcells1116.55
CD56+_NKCells1172.2
CD71+_EarlyErythroid395.45
CD8+_Tcells933.4
CardiacMyocytes80.2
Caudatenucleus25.35
Cerebellum9.05
CerebellumPeduncles15.6
CiliaryGanglion30.85
CingulateCortex18.55
Colorectaladenocarcinoma47.95
DorsalRootGanglion31.65
FetalThyroid33.65
Fetalbrain14.25
Fetalliver132.3
Fetallung94.15
GlobusPallidus12
Heart17.4
Hypothalamus45.65
Kidney10.3
Leukemia_chronicMyelogenousK-56243.05
Leukemia_promyelocytic-HL-60198.9
Leukemialymphoblastic(MOLT-4)144.8
Liver17.7
Lung26.25
Lymphnode355.95
Lymphoma_burkitts(Daudi)181.95
Lymphoma_burkitts(Raji)115.4
MedullaOblongata25.35
OccipitalLobe32.75
OlfactoryBulb48.7
Ovary29.7
Pancreas30.75
PancreaticIslet56.15
ParietalLobe24.55
Pituitary46
Placenta13.2
Pons11.05
PrefrontalCortex135.55
Prostate102.7
Salivarygland93.1
SkeletalMuscle35.85
Skin40.05
SmoothMuscle138.2
Spinalcord64
SubthalamicNucleus22.5
SuperiorCervicalGanglion26.55
TemporalLobe19.5
Testis9.25
TestisGermCell79.95
TestisIntersitial11.75
TestisLeydigCell21.75
TestisSeminiferousTubule15.2
Thalamus22.9
Thymus102.2
Thyroid135.65
Tongue57.35
Tonsil243.05
Trachea119.4
TrigeminalGanglion28.95
Uterus551.15
UterusCorpus25.3
WholeBlood626.65
Wholebrain29.9
colon473.5
pineal_day18.34
pineal_night21.02
retina67.225
small_intestine184
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P212073
  • 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
Amygdala6.96 ± 0.48
Basal Forebrain6.59 ± 0.2
Basal Part of Pons6.72 ± 0.29
Cerebellar Cortex6.37 ± 0.32
Cerebellar Nuclei7.01 ± 0.41
Claustrum7.35 ± 0.57
Epithalamus6.8 ± 0.46
Frontal Lobe6.62 ± 0.39
Globus Pallidus7.14 ± 0.09
Hypothalamus6.47 ± 0.48
Insula6.56 ± 0.38
Limbic Lobe6.91 ± 0.43
Mesencephalon6.73 ± 0.47
Myelencephalon6.75 ± 0.44
Occipital Lobe6.98 ± 0.37
Parietal Lobe6.75 ± 0.45
Pontine Tegmentum6.85 ± 0.46
Striatum7.2 ± 0.4
Subthalamus6.75 ± 0.14
Temporal Lobe6.66 ± 0.4
Thalamus6.68 ± 0.36
White Matter7.12 ± 0.45
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Mbnl1CBCerebellum0
0
Mbnl1CTXCerebral cortex0
0
Mbnl1HIPHippocampal region0
0
Mbnl1HPFHippocampal formation0
0
Mbnl1HYHypothalamus0
0
Mbnl1LSXLateral septal complex0
0
Mbnl1MBMidbrain0
0
Mbnl1MYMedulla0
0
Mbnl1OLFOlfactory bulb0
0
Mbnl1PPons0
0
Mbnl1PALPallidum0
0
Mbnl1RHPRetrohippocampal region0
0
Mbnl1sAMYStriatum-like amygdalar nuclei0
0
Mbnl1STRStriatum0
0
Mbnl1STRdStriatum dorsal region0
0
Mbnl1STRvStriatum ventral region0
0
Mbnl1THThalamus0
0
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001117 13 234 246 CKYFHPPAHLQAK 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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