AutismKB 2.0

Annotation Detail for GCNT2


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:GCNT2 ( CCAT,GCNT2C,GCNT5,IGNT,II,MGC163396,NACGT1,NAGCT1,ULG3,bA360O19.2,bA421M1.1 )
Gene Full Name: glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)
Band: 6p24.3-p24.2
Quick LinksEntrez ID:2651; OMIM: 600429; Uniprot ID:GNT2A_HUMAN; ENSEMBL ID: ENSG00000111846; HGNC ID: 4204
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 body2 / 7076128
blastocyst3 / 6231948
fetus5 / 5640128
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult41 / 193912121
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor0 / 1193690 
germ cell tumor11 / 26384541
glioma0 / 1068830 
head and neck tumor6 / 13630244
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal66 / 336030719
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain17 / 110098915
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus1 / 2020949
eye0 / 2110540 
heart0 / 896260 
intestine1 / 2344724
kidney2 / 2117779
larynx0 / 241450 
liver4 / 20774319
lung5 / 33697414
lymph0 / 442700 
lymph node2 / 9161021
mammary gland2 / 15327113
mouth6 / 6705289
muscle7 / 10771564
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta6 / 28082521
prostate12 / 18934563
salivary gland0 / 201550 
skin1 / 2105744
spleen0 / 539520 
stomach1 / 9661910
testis8 / 33044224
thymus1 / 8113112
thyroid3 / 4747363
tonsil0 / 169990 
trachea11 / 52413209
umbilical cord0 / 136800 
uterus3 / 23287812
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 211020_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.3
Adipocyte5.15
AdrenalCortex5.8
Adrenalgland4.55
Amygdala5.35
Appendix5.55
AtrioventricularNode4.45
BDCA4+_DentriticCells5.35
Bonemarrow5.3
BronchialEpithelialCells5
CD105+_Endothelial5.15
CD14+_Monocytes5.55
CD19+_BCells(neg._sel.)5.4
CD33+_Myeloid6.9
CD34+6.4
CD4+_Tcells5.45
CD56+_NKCells6
CD71+_EarlyErythroid6.05
CD8+_Tcells4.8
CardiacMyocytes7.45
Caudatenucleus4.7
Cerebellum4.25
CerebellumPeduncles6.1
CiliaryGanglion3.95
CingulateCortex5.45
Colorectaladenocarcinoma5.25
DorsalRootGanglion4.25
FetalThyroid5.1
Fetalbrain5.1
Fetalliver4.6
Fetallung4.05
GlobusPallidus3.95
Heart7.3
Hypothalamus5.55
Kidney4.95
Leukemia_chronicMyelogenousK-5624.7
Leukemia_promyelocytic-HL-604.6
Leukemialymphoblastic(MOLT-4)4.05
Liver7.35
Lung5.65
Lymphnode4.35
Lymphoma_burkitts(Daudi)6.8
Lymphoma_burkitts(Raji)7.65
MedullaOblongata4.7
OccipitalLobe4.65
OlfactoryBulb4.1
Ovary3.6
Pancreas4.2
PancreaticIslet5.6
ParietalLobe5.7
Pituitary6.05
Placenta5.25
Pons5.1
PrefrontalCortex6.35
Prostate6.05
Salivarygland4.25
SkeletalMuscle6.55
Skin4.25
SmoothMuscle5.85
Spinalcord5.5
SubthalamicNucleus4.9
SuperiorCervicalGanglion6.85
TemporalLobe4.85
Testis4.5
TestisGermCell4.25
TestisIntersitial4.4
TestisLeydigCell5.25
TestisSeminiferousTubule4.4
Thalamus5.35
Thymus3.95
Thyroid6.45
Tongue5.4
Tonsil5.1
Trachea4.35
TrigeminalGanglion5.55
Uterus4.2
UterusCorpus4.8
WholeBlood5.65
Wholebrain4.3
colon5.25
pineal_day6.4
pineal_night6.32
retina6.275
small_intestine5.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P397489
  • 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
Amygdala2.98 ± 1.09
Basal Forebrain2.58 ± 0.37
Basal Part of Pons2.14 ± 0.7
Cerebellar Cortex3.31 ± 0.29
Cerebellar Nuclei2.8 ± 0.72
Claustrum3.47 ± 0.93
Epithalamus2.26 ± 0.85
Frontal Lobe2.3 ± 0.75
Globus Pallidus2.53 ± 0.5
Hypothalamus3.02 ± 0.5
Insula2.19 ± 0.49
Limbic Lobe2.61 ± 0.75
Mesencephalon2.65 ± 0.89
Myelencephalon2.58 ± 0.74
Occipital Lobe2.81 ± 0.89
Parietal Lobe2.46 ± 0.8
Pontine Tegmentum2.69 ± 0.67
Striatum2.32 ± 0.84
Subthalamus2.73 ± 0.74
Temporal Lobe2.38 ± 0.69
Thalamus2.4 ± 0.61
White Matter2.69 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gcnt2CBCerebellum1.29
1.48
Gcnt2CTXCerebral cortex3.52
2.6
Gcnt2HIPHippocampal region0.9
0.72
Gcnt2HPFHippocampal formation0.84
0.78
Gcnt2HYHypothalamus0.69
0.51
Gcnt2LSXLateral septal complex0.71
0.5
Gcnt2MBMidbrain0.74
1.34
Gcnt2MYMedulla4.2
4.39
Gcnt2OLFOlfactory bulb6.53
4.94
Gcnt2PPons2.26
2.38
Gcnt2PALPallidum0.35
0.29
Gcnt2RHPRetrohippocampal region0.72
0.85
Gcnt2sAMYStriatum-like amygdalar nuclei0.22
0.41
Gcnt2STRStriatum11.9
7.89
Gcnt2STRdStriatum dorsal region18.59
12.61
Gcnt2STRvStriatum ventral region2.93
1.65
Gcnt2THThalamus0.62
0.53
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