AutismKB 2.0

Annotation Detail for POGLUT1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:POGLUT1 ( C3orf9,CLP46,KDELCL1,KTELC1,MDSRP,MGC32995,Rumi,hCLP46 )
Gene Full Name: protein O-glucosyltransferase 1
Band: 3q13.33
Quick LinksEntrez ID:56983; OMIM: NA; Uniprot ID:PGLT1_HUMAN; ENSEMBL ID: ENSG00000163389; HGNC ID: 22954
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 
fetus18 / 56401231
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult63 / 193912132
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor6 / 26384522
glioma1 / 1068839
head and neck tumor5 / 13630236
kidney tumor0 / 689590 
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal99 / 336030729
ovarian tumor7 / 7668291
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone2 / 7165527
bone marrow4 / 4880181
brain39 / 110098935
cervix0 / 481710 
connective tissue6 / 14925540
ear2 / 16212123
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye2 / 2110549
heart3 / 8962633
intestine7 / 23447229
kidney3 / 21177714
larynx2 / 2414582
liver4 / 20774319
lung13 / 33697438
lymph0 / 442700 
lymph node2 / 9161021
mammary gland1 / 1532716
mouth2 / 6705229
muscle8 / 10771574
nerve1 / 1576863
ovary7 / 10205168
pancreas6 / 21481227
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta10 / 28082535
prostate2 / 18934510
salivary gland0 / 201550 
skin2 / 2105749
spleen0 / 539520 
stomach3 / 9661931
testis7 / 33044221
thymus3 / 8113136
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218587_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts19.6
Adipocyte5.35
AdrenalCortex6.2
Adrenalgland5.05
Amygdala5.65
Appendix6.15
AtrioventricularNode4.15
BDCA4+_DentriticCells10.2
Bonemarrow5.3
BronchialEpithelialCells5.45
CD105+_Endothelial6.95
CD14+_Monocytes22.15
CD19+_BCells(neg._sel.)10.55
CD33+_Myeloid23.05
CD34+50.2
CD4+_Tcells42.4
CD56+_NKCells29.4
CD71+_EarlyErythroid5.05
CD8+_Tcells40.05
CardiacMyocytes6.9
Caudatenucleus4.85
Cerebellum4.4
CerebellumPeduncles6.2
CiliaryGanglion3.85
CingulateCortex5.6
Colorectaladenocarcinoma5.35
DorsalRootGanglion4.45
FetalThyroid5.5
Fetalbrain5.45
Fetalliver4.65
Fetallung4.5
GlobusPallidus4.15
Heart7.25
Hypothalamus5.8
Kidney4.55
Leukemia_chronicMyelogenousK-5624.95
Leukemia_promyelocytic-HL-604.8
Leukemialymphoblastic(MOLT-4)4.25
Liver7.2
Lung5.75
Lymphnode5.4
Lymphoma_burkitts(Daudi)7.05
Lymphoma_burkitts(Raji)7.5
MedullaOblongata5.95
OccipitalLobe4.9
OlfactoryBulb5.1
Ovary3.75
Pancreas4.4
PancreaticIslet5.75
ParietalLobe5.7
Pituitary6.3
Placenta5.7
Pons5.25
PrefrontalCortex6.85
Prostate6.35
Salivarygland4.4
SkeletalMuscle6.3
Skin4.5
SmoothMuscle6.2
Spinalcord5.8
SubthalamicNucleus5.05
SuperiorCervicalGanglion7.2
TemporalLobe5
Testis4.6
TestisGermCell4.65
TestisIntersitial4.6
TestisLeydigCell5.4
TestisSeminiferousTubule4.8
Thalamus5.45
Thymus4.2
Thyroid6.6
Tongue5.6
Tonsil7.3
Trachea4.45
TrigeminalGanglion5.85
Uterus4.5
UterusCorpus5.05
WholeBlood6.05
Wholebrain4.4
colon5.5
pineal_day8.86
pineal_night8.9
retina6.65
small_intestine5.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P123133
  • 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
Amygdala4.15 ± 0.76
Basal Forebrain3.68 ± 0.44
Basal Part of Pons3.88 ± 0.48
Cerebellar Cortex3.94 ± 0.46
Cerebellar Nuclei4.04 ± 0.4
Claustrum4 ± 0.59
Epithalamus4.19 ± 0.24
Frontal Lobe4.11 ± 0.5
Globus Pallidus4.3 ± 0.47
Hypothalamus4.21 ± 0.43
Insula3.93 ± 0.42
Limbic Lobe4.19 ± 0.44
Mesencephalon4.25 ± 0.55
Myelencephalon4.13 ± 0.58
Occipital Lobe4.31 ± 0.54
Parietal Lobe4.27 ± 0.44
Pontine Tegmentum4.24 ± 0.43
Striatum4.35 ± 0.43
Subthalamus4.4 ± 0.33
Temporal Lobe4.03 ± 0.53
Thalamus4.03 ± 0.54
White Matter5.21 ± 0.2
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
9630046K23RikCBCerebellum11.77
13.17
9630046K23RikCTXCerebral cortex32.65
23.77
9630046K23RikHIPHippocampal region34.85
44.53
9630046K23RikHPFHippocampal formation36.59
38.68
9630046K23RikHYHypothalamus11.63
9.98
9630046K23RikLSXLateral septal complex2.02
1.26
9630046K23RikMBMidbrain24.36
22.67
9630046K23RikMYMedulla36
40.99
9630046K23RikOLFOlfactory bulb14.71
12.58
9630046K23RikPPons22.88
25.44
9630046K23RikPALPallidum4.83
4.48
9630046K23RikRHPRetrohippocampal region40.28
31.68
9630046K23RiksAMYStriatum-like amygdalar nuclei5.36
4.2
9630046K23RikSTRStriatum4.29
3.4
9630046K23RikSTRdStriatum dorsal region4.82
3.91
9630046K23RikSTRvStriatum ventral region3.56
2.6
9630046K23RikTHThalamus9.93
8.39
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