AutismKB 2.0

Annotation Detail for L3MBTL1


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Basic Information Top
Gene Symbol:L3MBTL1 ( DKFZp586P1522,FLJ41181,H-L(3)MBT,KIAA0681,L3MBTL,dJ138B7.3 )
Gene Full Name: l(3)mbt-like 1 (Drosophila)
Band: 20q13.12
Quick LinksEntrez ID:26013; OMIM: 608802; Uniprot ID:LMBL1_HUMAN; ENSEMBL ID: ENSG00000185513; HGNC ID: 15905
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
blastocyst1 / 6231916
fetus17 / 56401230
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult25 / 193912112
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor2 / 13630214
kidney tumor1 / 6895914
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal66 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain24 / 110098921
cervix0 / 481710 
connective tissue1 / 1492556
ear1 / 1621261
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye2 / 2110549
heart1 / 8962611
intestine2 / 2344728
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node3 / 9161032
mammary gland1 / 1532716
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate2 / 18934510
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis10 / 33044230
thymus3 / 8113136
thyroid2 / 4747342
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206822_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.2
Adipocyte4.9
AdrenalCortex6.7
Adrenalgland4.3
Amygdala5.1
Appendix6.25
AtrioventricularNode5.2
BDCA4+_DentriticCells5.5
Bonemarrow5.65
BronchialEpithelialCells4.8
CD105+_Endothelial5.05
CD14+_Monocytes5.15
CD19+_BCells(neg._sel.)5.2
CD33+_Myeloid6.35
CD34+6.4
CD4+_Tcells5.35
CD56+_NKCells5.75
CD71+_EarlyErythroid4.8
CD8+_Tcells4.8
CardiacMyocytes6.8
Caudatenucleus4.45
Cerebellum4
CerebellumPeduncles5.7
CiliaryGanglion4.6
CingulateCortex5.1
Colorectaladenocarcinoma4.95
DorsalRootGanglion4.25
FetalThyroid5.05
Fetalbrain5.5
Fetalliver4.4
Fetallung4.15
GlobusPallidus3.8
Heart6.75
Hypothalamus5.45
Kidney4.25
Leukemia_chronicMyelogenousK-5624.45
Leukemia_promyelocytic-HL-604.35
Leukemialymphoblastic(MOLT-4)4.05
Liver7.35
Lung5.35
Lymphnode4.1
Lymphoma_burkitts(Daudi)6.45
Lymphoma_burkitts(Raji)7.1
MedullaOblongata4.45
OccipitalLobe4.4
OlfactoryBulb3.9
Ovary3.4
Pancreas4.05
PancreaticIslet5.35
ParietalLobe5.55
Pituitary6.2
Placenta5.05
Pons4.9
PrefrontalCortex5.95
Prostate5.7
Salivarygland4.05
SkeletalMuscle7.5
Skin4
SmoothMuscle5.5
Spinalcord5.25
SubthalamicNucleus4.6
SuperiorCervicalGanglion8.35
TemporalLobe4.65
Testis4.3
TestisGermCell4.3
TestisIntersitial4.2
TestisLeydigCell5.2
TestisSeminiferousTubule4.3
Thalamus5.05
Thymus3.85
Thyroid6.15
Tongue5.85
Tonsil4.8
Trachea4.15
TrigeminalGanglion5.8
Uterus3.95
UterusCorpus5.1
WholeBlood5.25
Wholebrain4.1
colon4.9
pineal_day6.24
pineal_night6.1
retina5.85
small_intestine4.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P501961
  • 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
Amygdala4.82 ± 0.37
Basal Forebrain4.87 ± 0.21
Basal Part of Pons4.59 ± 0.32
Cerebellar Cortex4.77 ± 0.29
Cerebellar Nuclei4.67 ± 0.34
Claustrum5 ± 0.54
Epithalamus5.34 ± 0.55
Frontal Lobe4.66 ± 0.42
Globus Pallidus5.43 ± 0.16
Hypothalamus4.81 ± 0.29
Insula4.56 ± 0.44
Limbic Lobe4.83 ± 0.49
Mesencephalon4.79 ± 0.33
Myelencephalon4.75 ± 0.47
Occipital Lobe4.93 ± 0.4
Parietal Lobe4.48 ± 0.38
Pontine Tegmentum4.76 ± 0.44
Striatum4.71 ± 0.36
Subthalamus4.66 ± 0.5
Temporal Lobe4.79 ± 0.4
Thalamus4.72 ± 0.3
White Matter6.46 ± 0.32
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
L3mbtlCBCerebellum15.74
17.65
L3mbtlCTXCerebral cortex83.87
59.85
L3mbtlHIPHippocampal region27.73
26.77
L3mbtlHPFHippocampal formation49.26
41.98
L3mbtlHYHypothalamus73.87
50.36
L3mbtlLSXLateral septal complex40.19
23.63
L3mbtlMBMidbrain47
36.47
L3mbtlMYMedulla45.47
41.44
L3mbtlOLFOlfactory bulb61.24
45.29
L3mbtlPPons39.15
34.48
L3mbtlPALPallidum50.66
37.05
L3mbtlRHPRetrohippocampal region82.39
61.27
L3mbtlsAMYStriatum-like amygdalar nuclei32.28
22.39
L3mbtlSTRStriatum30.34
19.87
L3mbtlSTRdStriatum dorsal region24.58
16.71
L3mbtlSTRvStriatum ventral region45.94
27.49
L3mbtlTHThalamus22.13
16.09
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
LMBL1_HUMAN_461 7 461 467 RNPALIR PRIDE

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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