AutismKB 2.0

Annotation Detail for POMGNT1


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Basic Information Top
Gene Symbol:POMGNT1 ( DKFZp761B182,FLJ20277,GNTI.2,MEB,MGAT1.2 )
Gene Full Name: protein O-linked mannose beta1,2-N-acetylglucosaminyltransferase
Band: 1p34.1
Quick LinksEntrez ID:55624; OMIM: 606822; Uniprot ID:PMGT1_HUMAN; ENSEMBL ID: ENSG00000085998; HGNC ID: 19139
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 body5 / 7076170
blastocyst4 / 6231964
fetus31 / 56401254
neonate2 / 3109764
infant2 / 2362084
juvenile3 / 5555653
adult168 / 193912186
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor15 / 94178159
cervical tumor3 / 3436687
chondrosarcoma16 / 82823193
colorectal tumor7 / 11424661
esophageal tumor3 / 17290173
gastrointestinal tumor9 / 11936975
germ cell tumor31 / 263845117
glioma7 / 10688365
head and neck tumor23 / 136302168
kidney tumor10 / 68959145
leukemia2 / 9584220
liver tumor6 / 9635962
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia7 / 9725071
normal188 / 336030755
ovarian tumor3 / 7668239
pancreatic tumor12 / 104616114
primitive neuroectodermal tumor of the CNS12 / 12568095
prostate cancer25 / 102680243
retinoblastoma0 / 463560 
skin tumor11 / 12494988
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites1 / 4001524
bladder0 / 297570 
blood3 / 12347824
bone6 / 7165583
bone marrow0 / 488010 
brain69 / 110098962
cervix8 / 48171166
connective tissue9 / 14925560
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus3 / 20209148
eye10 / 21105447
heart5 / 8962655
intestine16 / 23447268
kidney14 / 21177766
larynx2 / 2414582
liver7 / 20774333
lung25 / 33697474
lymph0 / 442700 
lymph node2 / 9161021
mammary gland16 / 153271104
mouth9 / 67052134
muscle3 / 10771527
nerve1 / 1576863
ovary9 / 10205188
pancreas21 / 21481297
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland3 / 16585180
placenta16 / 28082556
prostate35 / 189345184
salivary gland0 / 201550 
skin21 / 21057499
spleen1 / 5395218
stomach6 / 9661962
testis42 / 330442127
thymus1 / 8113112
thyroid12 / 47473252
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus10 / 23287842
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217944_at
Cell line Expression level Expression bar
721_B_lymphoblasts17.05
Adipocyte14
AdrenalCortex16.7
Adrenalgland16.3
Amygdala22.7
Appendix15.95
AtrioventricularNode17.9
BDCA4+_DentriticCells26.5
Bonemarrow14.5
BronchialEpithelialCells21.25
CD105+_Endothelial11.65
CD14+_Monocytes15.1
CD19+_BCells(neg._sel.)16.1
CD33+_Myeloid13.65
CD34+21.45
CD4+_Tcells17.1
CD56+_NKCells18.95
CD71+_EarlyErythroid13.35
CD8+_Tcells20.6
CardiacMyocytes21.95
Caudatenucleus23.4
Cerebellum13.9
CerebellumPeduncles17.95
CiliaryGanglion14
CingulateCortex22
Colorectaladenocarcinoma15.4
DorsalRootGanglion21.25
FetalThyroid15.95
Fetalbrain32.05
Fetalliver12.05
Fetallung10
GlobusPallidus11.55
Heart202.4
Hypothalamus26.65
Kidney14.05
Leukemia_chronicMyelogenousK-56212.25
Leukemia_promyelocytic-HL-6010.25
Leukemialymphoblastic(MOLT-4)10.6
Liver35.5
Lung17.5
Lymphnode9.65
Lymphoma_burkitts(Daudi)19.8
Lymphoma_burkitts(Raji)14.8
MedullaOblongata25.5
OccipitalLobe14.1
OlfactoryBulb14.95
Ovary10.65
Pancreas11.05
PancreaticIslet14.25
ParietalLobe16.15
Pituitary20.15
Placenta19.55
Pons17.7
PrefrontalCortex37.95
Prostate25.85
Salivarygland12.25
SkeletalMuscle18.3
Skin42.4
SmoothMuscle15.5
Spinalcord25.95
SubthalamicNucleus13.1
SuperiorCervicalGanglion19.05
TemporalLobe14.8
Testis25.35
TestisGermCell13.05
TestisIntersitial14.2
TestisLeydigCell16.55
TestisSeminiferousTubule15.55
Thalamus27.2
Thymus11.7
Thyroid42.4
Tongue16.7
Tonsil11.15
Trachea11.25
TrigeminalGanglion19
Uterus10.7
UterusCorpus10.95
WholeBlood10.75
Wholebrain30.7
colon14.05
pineal_day50.92
pineal_night48.26
retina41.175
small_intestine15.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P96812
  • 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
Amygdala7.11 ± 0.5
Basal Forebrain7.57 ± 0.21
Basal Part of Pons7.51 ± 0.36
Cerebellar Cortex7.26 ± 0.19
Cerebellar Nuclei7.72 ± 0.19
Claustrum7.06 ± 0.46
Epithalamus7.36 ± 0.28
Frontal Lobe7.61 ± 0.32
Globus Pallidus7.8 ± 0.14
Hypothalamus7.55 ± 0.23
Insula7.57 ± 0.16
Limbic Lobe7.4 ± 0.31
Mesencephalon7.47 ± 0.39
Myelencephalon7.56 ± 0.31
Occipital Lobe7.33 ± 0.27
Parietal Lobe7.47 ± 0.34
Pontine Tegmentum7.56 ± 0.32
Striatum7.76 ± 0.27
Subthalamus7.6 ± 0.2
Temporal Lobe7.57 ± 0.26
Thalamus7.6 ± 0.31
White Matter8.75 ± 0.14
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pomgnt1CBCerebellum14.01
23.23
Pomgnt1CTXCerebral cortex74.45
66.7
Pomgnt1HIPHippocampal region63.51
100
Pomgnt1HPFHippocampal formation51.52
72.09
Pomgnt1HYHypothalamus16.6
14.13
Pomgnt1LSXLateral septal complex3.27
2.46
Pomgnt1MBMidbrain15.93
16.5
Pomgnt1MYMedulla10.18
14.17
Pomgnt1OLFOlfactory bulb28.36
26.58
Pomgnt1PPons10.22
12.03
Pomgnt1PALPallidum20.03
19.4
Pomgnt1RHPRetrohippocampal region34.23
32.49
Pomgnt1sAMYStriatum-like amygdalar nuclei34.31
28.69
Pomgnt1STRStriatum19.37
15.97
Pomgnt1STRdStriatum dorsal region18.05
15.49
Pomgnt1STRvStriatum ventral region25.76
18.58
Pomgnt1THThalamus20.79
18.44
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00043022 27 272 298 VEGYGSVCSCKDPTPIEFSPDPLPDNK 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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