AutismKB 2.0

Annotation Detail for GNPTAB


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Basic Information Top
Gene Symbol:GNPTAB ( DKFZp762B226,GNPTA,ICD,KIAA1208,MGC4170 )
Gene Full Name: N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
Band: 12q23.2
Quick LinksEntrez ID:79158; OMIM: 607840; Uniprot ID:GNPTA_HUMAN; ENSEMBL ID: ENSG00000111670; HGNC ID: 29670
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
blastocyst7 / 62319112
fetus29 / 56401251
neonate1 / 3109732
infant2 / 2362084
juvenile2 / 5555635
adult87 / 193912144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor8 / 9417884
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor5 / 11936941
germ cell tumor10 / 26384537
glioma7 / 10688365
head and neck tumor6 / 13630244
kidney tumor1 / 6895914
leukemia5 / 9584252
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal154 / 336030745
ovarian tumor1 / 7668213
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor6 / 12494948
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor7 / 9025777
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites3 / 4001574
bladder3 / 29757100
blood6 / 12347848
bone3 / 7165541
bone marrow0 / 488010 
brain64 / 110098958
cervix1 / 4817120
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus1 / 2020949
eye3 / 21105414
heart1 / 8962611
intestine8 / 23447234
kidney10 / 21177747
larynx6 / 24145248
liver7 / 20774333
lung6 / 33697417
lymph0 / 442700 
lymph node1 / 9161010
mammary gland8 / 15327152
mouth0 / 670520 
muscle6 / 10771555
nerve2 / 15768126
ovary1 / 1020519
pancreas12 / 21481255
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta6 / 28082521
prostate6 / 18934531
salivary gland0 / 201550 
skin16 / 21057475
spleen2 / 5395237
stomach3 / 9661931
testis5 / 33044215
thymus12 / 81131147
thyroid2 / 4747342
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus9 / 23287838
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212959_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts45.8
Adipocyte32.65
AdrenalCortex36.1
Adrenalgland21.35
Amygdala357.75
Appendix41.85
AtrioventricularNode33.75
BDCA4+_DentriticCells96.55
Bonemarrow29.5
BronchialEpithelialCells43.45
CD105+_Endothelial59.75
CD14+_Monocytes47.75
CD19+_BCells(neg._sel.)64.25
CD33+_Myeloid146.2
CD34+171.75
CD4+_Tcells60.1
CD56+_NKCells1157.7
CD71+_EarlyErythroid26.25
CD8+_Tcells119.9
CardiacMyocytes52
Caudatenucleus64.85
Cerebellum20.55
CerebellumPeduncles38.5
CiliaryGanglion29.8
CingulateCortex55.8
Colorectaladenocarcinoma37.95
DorsalRootGanglion31
FetalThyroid34.7
Fetalbrain345.8
Fetalliver21.5
Fetallung30.7
GlobusPallidus29.45
Heart49.6
Hypothalamus41.95
Kidney24.5
Leukemia_chronicMyelogenousK-56228.5
Leukemia_promyelocytic-HL-6025
Leukemialymphoblastic(MOLT-4)57.3
Liver31.95
Lung43
Lymphnode67.35
Lymphoma_burkitts(Daudi)61.05
Lymphoma_burkitts(Raji)51.8
MedullaOblongata48.5
OccipitalLobe53.1
OlfactoryBulb31
Ovary23.1
Pancreas28.9
PancreaticIslet32.15
ParietalLobe42.7
Pituitary38.4
Placenta21.8
Pons37.8
PrefrontalCortex195.15
Prostate180.85
Salivarygland45.3
SkeletalMuscle44.1
Skin31
SmoothMuscle43
Spinalcord41.3
SubthalamicNucleus33.7
SuperiorCervicalGanglion51.45
TemporalLobe31.55
Testis20.7
TestisGermCell28.25
TestisIntersitial28.65
TestisLeydigCell32.25
TestisSeminiferousTubule24.3
Thalamus31.5
Thymus39.25
Thyroid83.2
Tongue39.35
Tonsil49.35
Trachea31.5
TrigeminalGanglion41.95
Uterus43.95
UterusCorpus33.8
WholeBlood159.55
Wholebrain80.45
colon335.75
pineal_day48.66
pineal_night69.82
retina41.675
small_intestine79.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P346265
  • 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
Amygdala8.54 ± 0.33
Basal Forebrain8.31 ± 0.2
Basal Part of Pons8.37 ± 0.2
Cerebellar Cortex8.26 ± 0.19
Cerebellar Nuclei7.97 ± 0.51
Claustrum8.87 ± 0.24
Epithalamus8.09 ± 0.35
Frontal Lobe8.42 ± 0.34
Globus Pallidus7.58 ± 0.29
Hypothalamus8.04 ± 0.24
Insula8.58 ± 0.35
Limbic Lobe8.51 ± 0.34
Mesencephalon8.23 ± 0.31
Myelencephalon8.25 ± 0.32
Occipital Lobe8.08 ± 0.34
Parietal Lobe8.3 ± 0.33
Pontine Tegmentum8.33 ± 0.36
Striatum8.29 ± 0.38
Subthalamus8.1 ± 0.12
Temporal Lobe8.5 ± 0.3
Thalamus8.07 ± 0.3
White Matter7.51 ± 0.18
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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