AutismKB 2.0

Annotation Detail for NUCB2


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Basic Information Top
Gene Symbol:NUCB2 ( NEFA )
Gene Full Name: nucleobindin 2
Band: 11p15.1
Quick LinksEntrez ID:4925; OMIM: 608020; Uniprot ID:NUCB2_HUMAN; ENSEMBL ID: ENSG00000070081; HGNC ID: 8044
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
blastocyst0 / 623190 
fetus12 / 56401221
neonate0 / 310970 
infant1 / 2362042
juvenile4 / 5555671
adult105 / 193912154
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) tumor11 / 94178116
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor8 / 26384530
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor4 / 6895958
leukemia11 / 95842114
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal129 / 336030738
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor14 / 125191111
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood14 / 123478113
bone4 / 7165555
bone marrow0 / 488010 
brain12 / 110098910
cervix0 / 481710 
connective tissue18 / 149255120
ear1 / 1621261
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye1 / 2110544
heart2 / 8962622
intestine2 / 2344728
kidney9 / 21177742
larynx1 / 2414541
liver9 / 20774343
lung18 / 33697453
lymph0 / 442700 
lymph node2 / 9161021
mammary gland15 / 15327197
mouth1 / 6705214
muscle4 / 10771537
nerve0 / 157680 
ovary3 / 10205129
pancreas9 / 21481241
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland4 / 16585241
placenta15 / 28082553
prostate19 / 189345100
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach5 / 9661951
testis15 / 33044245
thymus8 / 8113198
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular4 / 5178077
Microarray in BioGPS Top
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  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203675_at
Cell line Expression level Expression bar
721_B_lymphoblasts115.55
Adipocyte82.4
AdrenalCortex52.35
Adrenalgland13.75
Amygdala44.95
Appendix54.9
AtrioventricularNode35.3
BDCA4+_DentriticCells962.4
Bonemarrow42.8
BronchialEpithelialCells47.45
CD105+_Endothelial453.05
CD14+_Monocytes51.9
CD19+_BCells(neg._sel.)61.55
CD33+_Myeloid141.4
CD34+2218.55
CD4+_Tcells329.1
CD56+_NKCells297.2
CD71+_EarlyErythroid255.8
CD8+_Tcells408.7
CardiacMyocytes165.5
Caudatenucleus35.6
Cerebellum12.1
CerebellumPeduncles18.25
CiliaryGanglion37.85
CingulateCortex23.45
Colorectaladenocarcinoma85.8
DorsalRootGanglion19.8
FetalThyroid65.4
Fetalbrain39.7
Fetalliver35.6
Fetallung66.7
GlobusPallidus29.35
Heart26.6
Hypothalamus50.5
Kidney13.6
Leukemia_chronicMyelogenousK-56266.25
Leukemia_promyelocytic-HL-60264.7
Leukemialymphoblastic(MOLT-4)514.55
Liver25.65
Lung20.05
Lymphnode96.35
Lymphoma_burkitts(Daudi)190.95
Lymphoma_burkitts(Raji)142.2
MedullaOblongata16.7
OccipitalLobe15.15
OlfactoryBulb31.8
Ovary73.9
Pancreas494.05
PancreaticIslet471.1
ParietalLobe22.45
Pituitary471.4
Placenta68.2
Pons17.45
PrefrontalCortex41.75
Prostate42.8
Salivarygland1254
SkeletalMuscle27.05
Skin33.45
SmoothMuscle460.1
Spinalcord39.6
SubthalamicNucleus17.7
SuperiorCervicalGanglion36.4
TemporalLobe31.15
Testis34.4
TestisGermCell365.6
TestisIntersitial257.75
TestisLeydigCell241.45
TestisSeminiferousTubule161.85
Thalamus38.5
Thymus46.8
Thyroid297.5
Tongue130.65
Tonsil55.85
Trachea310.35
TrigeminalGanglion47.8
Uterus135.15
UterusCorpus38.1
WholeBlood73.95
Wholebrain12.6
colon60.7
pineal_day462.28
pineal_night501.22
retina36.5
small_intestine37
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16308_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
Amygdala8.31 ± 0.3
Basal Forebrain8.2 ± 0.4
Basal Part of Pons7.97 ± 0.26
Cerebellar Cortex8.16 ± 0.28
Cerebellar Nuclei7.83 ± 0.2
Claustrum8.04 ± 0.18
Epithalamus8.61 ± 0.24
Frontal Lobe8.04 ± 0.31
Globus Pallidus8.21 ± 0.2
Hypothalamus8.5 ± 0.57
Insula8.03 ± 0.35
Limbic Lobe8.06 ± 0.35
Mesencephalon8.09 ± 0.39
Myelencephalon8.09 ± 0.44
Occipital Lobe8.1 ± 0.41
Parietal Lobe7.99 ± 0.33
Pontine Tegmentum8.18 ± 0.33
Striatum8.95 ± 0.4
Subthalamus7.95 ± 0.36
Temporal Lobe8.14 ± 0.29
Thalamus8.06 ± 0.27
White Matter7.6 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Nucb2CBCerebellum4.3
4.53
Nucb2CTXCerebral cortex43.74
23.03
Nucb2HIPHippocampal region36.55
39
Nucb2HPFHippocampal formation38.55
32.28
Nucb2HYHypothalamus39.35
25.97
Nucb2LSXLateral septal complex41.55
19.57
Nucb2MBMidbrain14.45
9.7
Nucb2MYMedulla14.81
10.85
Nucb2OLFOlfactory bulb47.47
28.49
Nucb2PPons16.72
12.32
Nucb2PALPallidum20.22
11.56
Nucb2RHPRetrohippocampal region41.87
25.48
Nucb2sAMYStriatum-like amygdalar nuclei55.96
31.57
Nucb2STRStriatum57.94
30.65
Nucb2STRdStriatum dorsal region62.46
33.46
Nucb2STRvStriatum ventral region54.02
27.68
Nucb2THThalamus12.44
6.99
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
NUCB2_HUMAN_119 18 119 136 AKLDSLQDIGMDHQALLK PRIDE
NUCB2_HUMAN_282 13 282 294 NEEDDMVEMEEER PRIDE
NUCB2_HUMAN_299 13 299 311 EHVMNEVDTNKDR PRIDE
NUCB2_HUMAN_311 9 311 319 LVTLEEFLK PRIDE
NUCB2_HUMAN_387 13 387 399 LEYHQVIQQMEQK PRIDE
NUCB2_HUMAN_60 13 60 72 QVIDVLETDKHFR PRIDE
PAp00032358 18 120 137 AKLDSLQDIGMDHQALLK 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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