AutismKB 2.0

Annotation Detail for B3GNT2


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Basic Information Top
Gene Symbol:B3GNT2 ( B3GN-T2,B3GNT,B3GNT-2,B3GNT1,BETA3GNT,BGNT2,BGnT-2 )
Gene Full Name: UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2
Band: 2p15
Quick LinksEntrez ID:10678; OMIM: 605581; Uniprot ID:B3GN2_HUMAN; ENSEMBL ID: ENSG00000170340; HGNC ID: 15629
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
blastocyst3 / 6231948
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult48 / 193912124
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma2 / 17475114
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor2 / 2638457
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal74 / 336030722
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor3 / 12494924
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder2 / 2975767
blood1 / 1234788
bone2 / 7165527
bone marrow2 / 4880140
brain10 / 11009899
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine7 / 23447229
kidney10 / 21177747
larynx0 / 241450 
liver2 / 2077439
lung1 / 3369742
lymph1 / 4427022
lymph node3 / 9161032
mammary gland2 / 15327113
mouth1 / 6705214
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta12 / 28082542
prostate1 / 1893455
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach4 / 9661941
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219326_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts83.75
Adipocyte5.1
AdrenalCortex5.5
Adrenalgland4.6
Amygdala5.4
Appendix5.5
AtrioventricularNode4.25
BDCA4+_DentriticCells16.1
Bonemarrow5.35
BronchialEpithelialCells5.25
CD105+_Endothelial11.75
CD14+_Monocytes5.65
CD19+_BCells(neg._sel.)6.3
CD33+_Myeloid13
CD34+47.75
CD4+_Tcells21.45
CD56+_NKCells11.25
CD71+_EarlyErythroid49.2
CD8+_Tcells14.8
CardiacMyocytes6.25
Caudatenucleus5.3
Cerebellum4.15
CerebellumPeduncles5.75
CiliaryGanglion3.65
CingulateCortex6.1
Colorectaladenocarcinoma7.45
DorsalRootGanglion6.7
FetalThyroid4.9
Fetalbrain5.15
Fetalliver4.65
Fetallung4.3
GlobusPallidus3.7
Heart6.35
Hypothalamus5.8
Kidney5.7
Leukemia_chronicMyelogenousK-5624.7
Leukemia_promyelocytic-HL-604.45
Leukemialymphoblastic(MOLT-4)18.45
Liver6.7
Lung5.55
Lymphnode5.65
Lymphoma_burkitts(Daudi)6.6
Lymphoma_burkitts(Raji)6.95
MedullaOblongata5.4
OccipitalLobe4.65
OlfactoryBulb4.05
Ovary3.55
Pancreas4.2
PancreaticIslet5.45
ParietalLobe5.3
Pituitary7.7
Placenta11.05
Pons5.05
PrefrontalCortex6.3
Prostate5.9
Salivarygland8.75
SkeletalMuscle6.2
Skin4.35
SmoothMuscle8.2
Spinalcord5.5
SubthalamicNucleus4.65
SuperiorCervicalGanglion8.8
TemporalLobe4.7
Testis4.4
TestisGermCell4.85
TestisIntersitial4.2
TestisLeydigCell4.95
TestisSeminiferousTubule4.35
Thalamus5.2
Thymus4.35
Thyroid6.3
Tongue5.05
Tonsil5.05
Trachea4.35
TrigeminalGanglion5.4
Uterus4.1
UterusCorpus6.3
WholeBlood7.6
Wholebrain5.85
colon6.3
pineal_day6.22
pineal_night6.1
retina18.5
small_intestine5.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10477_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
Amygdala16.6 ± 0.7
Basal Forebrain16.26 ± 0.12
Basal Part of Pons16.39 ± 0.32
Cerebellar Cortex15.89 ± 0.3
Cerebellar Nuclei16.51 ± 0.5
Claustrum16.86 ± 0.65
Epithalamus15.95 ± 0.31
Frontal Lobe16.26 ± 0.44
Globus Pallidus16.81 ± 0.33
Hypothalamus16.29 ± 0.47
Insula16.11 ± 0.37
Limbic Lobe16.36 ± 0.49
Mesencephalon16.46 ± 0.46
Myelencephalon16.38 ± 0.5
Occipital Lobe16.33 ± 0.47
Parietal Lobe16.29 ± 0.45
Pontine Tegmentum16.24 ± 0.51
Striatum16.58 ± 0.57
Subthalamus16.42 ± 0.24
Temporal Lobe16.26 ± 0.45
Thalamus16.38 ± 0.42
White Matter16.82 ± 0.33
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
B3gnt2CBCerebellum19.76
30.67
B3gnt2CTXCerebral cortex9.81
8.46
B3gnt2HIPHippocampal region17.23
22.78
B3gnt2HPFHippocampal formation12.62
15.12
B3gnt2HYHypothalamus2.32
1.79
B3gnt2LSXLateral septal complex1.41
2.21
B3gnt2MBMidbrain1.79
3.45
B3gnt2MYMedulla5.14
5.93
B3gnt2OLFOlfactory bulb17.51
17.32
B3gnt2PPons2.06
2.74
B3gnt2PALPallidum7.8
8.57
B3gnt2RHPRetrohippocampal region4.52
4.35
B3gnt2sAMYStriatum-like amygdalar nuclei13.38
11.73
B3gnt2STRStriatum78.89
88.27
B3gnt2STRdStriatum dorsal region100
100
B3gnt2STRvStriatum ventral region38.14
38.05
B3gnt2THThalamus2
2.26
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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