AutismKB 2.0

Annotation Detail for NEBL


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Basic Information Top
Gene Symbol:NEBL ( FLJ53769,LASP2,LNEBL,MGC119746,MGC119747 )
Gene Full Name: nebulette
Band: 10p12.31
Quick LinksEntrez ID:10529; OMIM: 605491; Uniprot ID:NEBL_HUMAN; ENSEMBL ID: ENSG00000078114; HGNC ID: 16932
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
blastocyst5 / 6231980
fetus44 / 56401278
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult96 / 193912149
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor7 / 26384526
glioma3 / 10688328
head and neck tumor13 / 13630295
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia9 / 9725092
normal218 / 336030764
ovarian tumor0 / 766820 
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone2 / 7165527
bone marrow0 / 488010 
brain82 / 110098974
cervix0 / 481710 
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye10 / 21105447
heart49 / 89626546
intestine8 / 23447234
kidney4 / 21177718
larynx3 / 24145124
liver7 / 20774333
lung30 / 33697489
lymph0 / 442700 
lymph node0 / 916100 
mammary gland5 / 15327132
mouth4 / 6705259
muscle5 / 10771546
nerve2 / 15768126
ovary2 / 10205119
pancreas10 / 21481246
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta18 / 28082564
prostate3 / 18934515
salivary gland1 / 2015549
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis10 / 33044230
thymus0 / 811310 
thyroid7 / 47473147
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203962_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.95
Adipocyte6.5
AdrenalCortex7.45
Adrenalgland6.2
Amygdala330.3
Appendix8.35
AtrioventricularNode13.75
BDCA4+_DentriticCells6.45
Bonemarrow8.05
BronchialEpithelialCells6.65
CD105+_Endothelial6.4
CD14+_Monocytes6.85
CD19+_BCells(neg._sel.)8.2
CD33+_Myeloid8.7
CD34+7.9
CD4+_Tcells8.35
CD56+_NKCells8.4
CD71+_EarlyErythroid6.05
CD8+_Tcells6.05
CardiacMyocytes9.2
Caudatenucleus140.95
Cerebellum114.3
CerebellumPeduncles210.1
CiliaryGanglion6.85
CingulateCortex65.1
Colorectaladenocarcinoma102.4
DorsalRootGanglion16.35
FetalThyroid12.35
Fetalbrain29.5
Fetalliver6
Fetallung13.25
GlobusPallidus41.15
Heart9.6
Hypothalamus303.05
Kidney6.85
Leukemia_chronicMyelogenousK-5626.5
Leukemia_promyelocytic-HL-605.7
Leukemialymphoblastic(MOLT-4)5
Liver9.05
Lung7.8
Lymphnode5.85
Lymphoma_burkitts(Daudi)8.6
Lymphoma_burkitts(Raji)9.6
MedullaOblongata91.85
OccipitalLobe185.15
OlfactoryBulb65.05
Ovary5.45
Pancreas46.1
PancreaticIslet35.1
ParietalLobe70.45
Pituitary306.15
Placenta17.3
Pons50.55
PrefrontalCortex415.05
Prostate8.85
Salivarygland212.3
SkeletalMuscle9.15
Skin16.2
SmoothMuscle7.2
Spinalcord265.4
SubthalamicNucleus114.6
SuperiorCervicalGanglion19.8
TemporalLobe51.65
Testis6.3
TestisGermCell5.35
TestisIntersitial6.6
TestisLeydigCell8.15
TestisSeminiferousTubule6.05
Thalamus58.7
Thymus5.1
Thyroid318.85
Tongue22.45
Tonsil8.05
Trachea24.5
TrigeminalGanglion16.2
Uterus5.45
UterusCorpus7.05
WholeBlood8.85
Wholebrain65.05
colon8.3
pineal_day210.16
pineal_night97.06
retina342.45
small_intestine6.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P104522
  • 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
Amygdala8.48 ± 0.28
Basal Forebrain8.52 ± 0.17
Basal Part of Pons7.78 ± 0.25
Cerebellar Cortex8.37 ± 0.21
Cerebellar Nuclei8.35 ± 0.3
Claustrum7.97 ± 0.51
Epithalamus8.94 ± 0.43
Frontal Lobe8.17 ± 0.4
Globus Pallidus8.96 ± 0.42
Hypothalamus8.53 ± 0.36
Insula7.97 ± 0.27
Limbic Lobe8.16 ± 0.37
Mesencephalon8.36 ± 0.51
Myelencephalon8.27 ± 0.39
Occipital Lobe8.52 ± 0.31
Parietal Lobe8.3 ± 0.3
Pontine Tegmentum8.39 ± 0.4
Striatum8.57 ± 0.42
Subthalamus8.32 ± 0.17
Temporal Lobe8.07 ± 0.34
Thalamus8.18 ± 0.27
White Matter6.79 ± 0.37
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
NeblCBCerebellum5.03
5.44
NeblCTXCerebral cortex9.25
6.38
NeblHIPHippocampal region30.76
33.03
NeblHPFHippocampal formation22.64
21.32
NeblHYHypothalamus9.33
6.66
NeblLSXLateral septal complex11.58
8.28
NeblMBMidbrain4.2
4.06
NeblMYMedulla4.7
4.69
NeblOLFOlfactory bulb12.3
8.97
NeblPPons3.84
3.62
NeblPALPallidum4.8
3.82
NeblRHPRetrohippocampal region10.77
6.92
NeblsAMYStriatum-like amygdalar nuclei3.12
2.02
NeblSTRStriatum15.93
9.65
NeblSTRdStriatum dorsal region17.92
10.85
NeblSTRvStriatum ventral region18.71
10.71
NeblTHThalamus5.52
5.13
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00131111 22 977 998 DGDYIVNVQPIDDGWMYGTVQR 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