AutismKB 2.0

Annotation Detail for NEB


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Basic Information Top
Gene Symbol:NEB ( DKFZp686C1456,FLJ11505,FLJ36536,FLJ39568,FLJ39584,NEB177D,NEM2 )
Gene Full Name: nebulin
Band: 2q23.3
Quick LinksEntrez ID:4703; OMIM: 161650; Uniprot ID:NEBU_HUMAN; ENSEMBL ID: ENSG00000183091; HGNC ID: 7720
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 body0 / 707610 
blastocyst1 / 6231916
fetus50 / 56401288
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult146 / 193912175
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor4 / 26384515
glioma0 / 1068830 
head and neck tumor27 / 136302198
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia0 / 972500 
normal280 / 336030783
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor15 / 125191119
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
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain8 / 11009897
cervix0 / 481710 
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye8 / 21105437
heart28 / 89626312
intestine0 / 2344720 
kidney0 / 2117770 
larynx12 / 24145496
liver20 / 20774396
lung4 / 33697411
lymph0 / 442700 
lymph node1 / 9161010
mammary gland3 / 15327119
mouth24 / 67052357
muscle203 / 1077151884
nerve3 / 15768190
ovary0 / 1020510 
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx7 / 41328169
pituitary gland0 / 165850 
placenta5 / 28082517
prostate5 / 18934526
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis2 / 3304426
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205054_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.15
Adipocyte4.1
AdrenalCortex4.8
Adrenalgland3.5
Amygdala4.35
Appendix4.4
AtrioventricularNode3.25
BDCA4+_DentriticCells4.55
Bonemarrow4.15
BronchialEpithelialCells4.05
CD105+_Endothelial4.25
CD14+_Monocytes4.4
CD19+_BCells(neg._sel.)4.45
CD33+_Myeloid5.35
CD34+5.3
CD4+_Tcells4.6
CD56+_NKCells5
CD71+_EarlyErythroid3.9
CD8+_Tcells4.05
CardiacMyocytes5.5
Caudatenucleus3.7
Cerebellum3.35
CerebellumPeduncles4.7
CiliaryGanglion3.45
CingulateCortex4.25
Colorectaladenocarcinoma4.15
DorsalRootGanglion3.25
FetalThyroid319.15
Fetalbrain4.05
Fetalliver3.65
Fetallung3.35
GlobusPallidus3.05
Heart5.4
Hypothalamus4.55
Kidney3.4
Leukemia_chronicMyelogenousK-5623.75
Leukemia_promyelocytic-HL-603.65
Leukemialymphoblastic(MOLT-4)3.3
Liver5.7
Lung4.55
Lymphnode3.6
Lymphoma_burkitts(Daudi)5.35
Lymphoma_burkitts(Raji)5.9
MedullaOblongata3.8
OccipitalLobe3.7
OlfactoryBulb3.25
Ovary2.75
Pancreas3.35
PancreaticIslet4.4
ParietalLobe4.4
Pituitary4.85
Placenta4.25
Pons3.9
PrefrontalCortex5.2
Prostate5.2
Salivarygland3.3
SkeletalMuscle4709.2
Skin3.25
SmoothMuscle4.65
Spinalcord4.4
SubthalamicNucleus3.8
SuperiorCervicalGanglion4.7
TemporalLobe3.8
Testis4.1
TestisGermCell3.45
TestisIntersitial3.5
TestisLeydigCell4.1
TestisSeminiferousTubule3.55
Thalamus4.3
Thymus3.2
Thyroid532.6
Tongue2606.55
Tonsil4.05
Trachea3.45
TrigeminalGanglion4.6
Uterus3.4
UterusCorpus3.7
WholeBlood4.45
Wholebrain3.45
colon4.15
pineal_day5.26
pineal_night5.1
retina5.05
small_intestine4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13093_PI416261804
  • 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
Amygdala3.34 ± 1.06
Basal Forebrain3.65 ± 0.38
Basal Part of Pons2.81 ± 0.62
Cerebellar Cortex3.52 ± 0.53
Cerebellar Nuclei3.17 ± 0.63
Claustrum3.31 ± 0.77
Epithalamus3.7 ± 0.58
Frontal Lobe3.19 ± 0.87
Globus Pallidus3.17 ± 1.08
Hypothalamus4.84 ± 1.46
Insula2.97 ± 0.62
Limbic Lobe3.05 ± 0.9
Mesencephalon3.48 ± 0.99
Myelencephalon3.34 ± 0.87
Occipital Lobe3.92 ± 0.93
Parietal Lobe3.49 ± 0.89
Pontine Tegmentum3.28 ± 0.83
Striatum4.62 ± 0.93
Subthalamus2.65 ± 0.31
Temporal Lobe2.92 ± 0.86
Thalamus3.66 ± 0.67
White Matter2.23 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
NebCBCerebellum6.15
6.19
NebCTXCerebral cortex4.02
2.95
NebHIPHippocampal region2.44
2.24
NebHPFHippocampal formation1.9
1.71
NebHYHypothalamus0.47
0.36
NebLSXLateral septal complex0.73
0.45
NebMBMidbrain1.02
1.24
NebMYMedulla2.42
2.81
NebOLFOlfactory bulb5.89
4.91
NebPPons0.73
1.08
NebPALPallidum0.93
0.79
NebRHPRetrohippocampal region1
0.96
NebsAMYStriatum-like amygdalar nuclei0.68
0.59
NebSTRStriatum0.65
0.55
NebSTRdStriatum dorsal region0.39
0.42
NebSTRvStriatum ventral region1.38
0.88
NebTHThalamus3.21
2.43
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NEBU_HUMAN_2800 13 2800 2812 KQLGHHIGARAIR PRIDE
PAp00095755 15 5732 5746 ENLHYTTVADRPDIK 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