AutismKB 2.0

Annotation Detail for NBEA


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Basic Information Top
Gene Symbol:NBEA ( BCL8B,LYST2 )
Gene Full Name: neurobeachin
Band: 13q13.3
Quick LinksEntrez ID:26960; OMIM: 604889; Uniprot ID:NBEA_HUMAN; ENSEMBL ID: ENSG00000172915; HGNC ID: 7648
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 body1 / 7076114
blastocyst2 / 6231932
fetus51 / 56401290
neonate1 / 3109732
infant3 / 23620127
juvenile2 / 5555635
adult40 / 193912120
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor7 / 26384526
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal171 / 336030750
ovarian tumor0 / 766820 
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS4 / 12568031
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain96 / 110098987
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye10 / 21105447
heart0 / 896260 
intestine0 / 2344720 
kidney3 / 21177714
larynx0 / 241450 
liver0 / 2077430 
lung6 / 33697417
lymph0 / 442700 
lymph node0 / 916100 
mammary gland7 / 15327145
mouth0 / 670520 
muscle4 / 10771537
nerve2 / 15768126
ovary0 / 1020510 
pancreas24 / 214812111
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta1 / 2808253
prostate1 / 1893455
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach0 / 966190 
testis8 / 33044224
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus2 / 2328788
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221207_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.85
Adipocyte7.5
AdrenalCortex8.9
Adrenalgland6.9
Amygdala331.3
Appendix11.3
AtrioventricularNode7.6
BDCA4+_DentriticCells8.95
Bonemarrow8.15
BronchialEpithelialCells7.3
CD105+_Endothelial7.55
CD14+_Monocytes8.45
CD19+_BCells(neg._sel.)8.3
CD33+_Myeloid10.4
CD34+10.2
CD4+_Tcells8.15
CD56+_NKCells9.35
CD71+_EarlyErythroid7.5
CD8+_Tcells7.4
CardiacMyocytes10.75
Caudatenucleus25.35
Cerebellum12.95
CerebellumPeduncles38.15
CiliaryGanglion7.6
CingulateCortex65.65
Colorectaladenocarcinoma7.8
DorsalRootGanglion6.95
FetalThyroid9.1
Fetalbrain619.8
Fetalliver6.95
Fetallung6.6
GlobusPallidus11.4
Heart11.8
Hypothalamus56.65
Kidney6.6
Leukemia_chronicMyelogenousK-5626.95
Leukemia_promyelocytic-HL-606.95
Leukemialymphoblastic(MOLT-4)5.8
Liver10.8
Lung8.5
Lymphnode6.6
Lymphoma_burkitts(Daudi)10.4
Lymphoma_burkitts(Raji)11.3
MedullaOblongata51.95
OccipitalLobe53.05
OlfactoryBulb6.35
Ovary5.5
Pancreas6.45
PancreaticIslet11.1
ParietalLobe25.65
Pituitary35.5
Placenta7.8
Pons20.8
PrefrontalCortex76.85
Prostate9.05
Salivarygland6.75
SkeletalMuscle10.25
Skin8
SmoothMuscle8.8
Spinalcord8.95
SubthalamicNucleus26.95
SuperiorCervicalGanglion12.15
TemporalLobe16.7
Testis6.7
TestisGermCell6.45
TestisIntersitial6.8
TestisLeydigCell8.3
TestisSeminiferousTubule6.9
Thalamus16.4
Thymus5.65
Thyroid15.65
Tongue8.35
Tonsil7.9
Trachea6.7
TrigeminalGanglion9.8
Uterus12.2
UterusCorpus7.7
WholeBlood8.3
Wholebrain19.85
colon8.35
pineal_day107.16
pineal_night115.6
retina35.575
small_intestine8.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P65278
  • 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
Amygdala9.64 ± 0.62
Basal Forebrain9.42 ± 0.32
Basal Part of Pons10.4 ± 0.31
Cerebellar Cortex10.11 ± 0.16
Cerebellar Nuclei9.94 ± 0.46
Claustrum10.06 ± 0.42
Epithalamus9.45 ± 0.27
Frontal Lobe10.06 ± 0.4
Globus Pallidus8.06 ± 0.46
Hypothalamus9.93 ± 0.55
Insula10.28 ± 0.31
Limbic Lobe9.86 ± 0.67
Mesencephalon9.51 ± 0.52
Myelencephalon9.67 ± 0.66
Occipital Lobe9.12 ± 0.7
Parietal Lobe9.85 ± 0.51
Pontine Tegmentum9.82 ± 0.48
Striatum9 ± 0.77
Subthalamus9.97 ± 0.25
Temporal Lobe10.06 ± 0.39
Thalamus9.37 ± 0.36
White Matter8.18 ± 0.2
Mouse Brain ISH
Peptide Top

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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