AutismKB 2.0

Annotation Detail for NBEAL2


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Basic Information Top
Gene Symbol:NBEAL2 ( KIAA0540 )
Gene Full Name: neurobeachin-like 2
Band: 3p21.31
Quick LinksEntrez ID:23218; OMIM: NA; Uniprot ID:NBEL2_HUMAN; ENSEMBL ID: ENSG00000160796; HGNC ID: 31928
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 body3 / 7076142
blastocyst6 / 6231996
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult150 / 193912177
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) tumor2 / 9417821
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor20 / 114246175
esophageal tumor2 / 17290115
gastrointestinal tumor4 / 11936933
germ cell tumor48 / 263845181
glioma4 / 10688337
head and neck tumor1 / 1363027
kidney tumor3 / 6895943
leukemia30 / 95842313
liver tumor1 / 9635910
lung tumor9 / 10312787
lymphoma3 / 7175541
non-neoplasia13 / 97250133
normal183 / 336030754
ovarian tumor1 / 7668213
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood32 / 123478259
bone1 / 7165513
bone marrow1 / 4880120
brain12 / 110098910
cervix2 / 4817141
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus2 / 2020998
eye18 / 21105485
heart3 / 8962633
intestine41 / 234472174
kidney11 / 21177751
larynx1 / 2414541
liver2 / 2077439
lung30 / 33697489
lymph2 / 4427045
lymph node35 / 91610382
mammary gland5 / 15327132
mouth0 / 670520 
muscle0 / 1077150 
nerve3 / 15768190
ovary2 / 10205119
pancreas22 / 214812102
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta8 / 28082528
prostate17 / 18934589
salivary gland0 / 201550 
skin4 / 21057418
spleen7 / 53952129
stomach1 / 9661910
testis5 / 33044215
thymus0 / 811310 
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212443_at
Cell line Expression level Expression bar
721_B_lymphoblasts195.95
Adipocyte12.8
AdrenalCortex21.6
Adrenalgland14.55
Amygdala18.1
Appendix16.15
AtrioventricularNode11
BDCA4+_DentriticCells70.75
Bonemarrow43.5
BronchialEpithelialCells17.35
CD105+_Endothelial16.6
CD14+_Monocytes166.85
CD19+_BCells(neg._sel.)19
CD33+_Myeloid529.05
CD34+52
CD4+_Tcells128.65
CD56+_NKCells212.25
CD71+_EarlyErythroid14.6
CD8+_Tcells147.55
CardiacMyocytes91.1
Caudatenucleus14.45
Cerebellum12.25
CerebellumPeduncles19.85
CiliaryGanglion9.25
CingulateCortex16.1
Colorectaladenocarcinoma46.7
DorsalRootGanglion11.4
FetalThyroid14.85
Fetalbrain16.8
Fetalliver13.6
Fetallung53.55
GlobusPallidus10.9
Heart45.85
Hypothalamus15.3
Kidney14
Leukemia_chronicMyelogenousK-56226.6
Leukemia_promyelocytic-HL-6077.95
Leukemialymphoblastic(MOLT-4)26.8
Liver22.05
Lung85.65
Lymphnode60.95
Lymphoma_burkitts(Daudi)20.55
Lymphoma_burkitts(Raji)786.65
MedullaOblongata15.6
OccipitalLobe13.95
OlfactoryBulb11
Ovary11.35
Pancreas14.1
PancreaticIslet17.3
ParietalLobe18.3
Pituitary20.25
Placenta14.3
Pons20.8
PrefrontalCortex19.7
Prostate21.3
Salivarygland12.6
SkeletalMuscle19.85
Skin9.2
SmoothMuscle13.15
Spinalcord14.15
SubthalamicNucleus10.25
SuperiorCervicalGanglion19.35
TemporalLobe11.5
Testis14.95
TestisGermCell20.9
TestisIntersitial11.2
TestisLeydigCell16.85
TestisSeminiferousTubule15.05
Thalamus14
Thymus20
Thyroid44.1
Tongue64.35
Tonsil24.6
Trachea15.1
TrigeminalGanglion16.95
Uterus16
UterusCorpus15.3
WholeBlood212.5
Wholebrain10.85
colon38
pineal_day22.4
pineal_night20.32
retina20.8
small_intestine19.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P409168
  • 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
Amygdala3.72 ± 0.68
Basal Forebrain3.57 ± 0.68
Basal Part of Pons3.55 ± 0.51
Cerebellar Cortex3.77 ± 0.56
Cerebellar Nuclei3.9 ± 0.33
Claustrum3.54 ± 0.9
Epithalamus3.09 ± 0.42
Frontal Lobe3.71 ± 0.68
Globus Pallidus4.02 ± 0.69
Hypothalamus3.33 ± 0.95
Insula3.25 ± 0.86
Limbic Lobe3.67 ± 0.77
Mesencephalon3.77 ± 0.67
Myelencephalon3.71 ± 0.71
Occipital Lobe3.76 ± 0.63
Parietal Lobe3.57 ± 0.62
Pontine Tegmentum3.68 ± 0.74
Striatum3.87 ± 0.71
Subthalamus4.17 ± 0.28
Temporal Lobe3.63 ± 0.66
Thalamus3.89 ± 0.66
White Matter2.46 ± 0.49
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nbeal2CBCerebellum1.38
2.25
Nbeal2CTXCerebral cortex1.67
2.37
Nbeal2HIPHippocampal region0.46
0.7
Nbeal2HPFHippocampal formation0.43
0.65
Nbeal2HYHypothalamus0.14
0.2
Nbeal2LSXLateral septal complex0.21
0.27
Nbeal2MBMidbrain0.53
0.79
Nbeal2MYMedulla2.24
2.55
Nbeal2OLFOlfactory bulb1.23
2.93
Nbeal2PPons1.62
2.15
Nbeal2PALPallidum0.13
0.2
Nbeal2RHPRetrohippocampal region0.4
0.64
Nbeal2sAMYStriatum-like amygdalar nuclei0.09
0.16
Nbeal2STRStriatum0.17
0.22
Nbeal2STRdStriatum dorsal region0.16
0.24
Nbeal2STRvStriatum ventral region0.21
0.2
Nbeal2THThalamus0.35
0.38
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00097040 25 820 844 TLCTLGPNETAPFKPEGELHELSTR 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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