AutismKB 2.0

Annotation Detail for POMT1


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Basic Information Top
Gene Symbol:POMT1 ( FLJ37239,LGMD2K,RT )
Gene Full Name: protein-O-mannosyltransferase 1
Band: 9q34.13
Quick LinksEntrez ID:10585; OMIM: 607423; Uniprot ID:POMT1_HUMAN; ENSEMBL ID: ENSG00000130714; HGNC ID: 9202
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 body0 / 707610 
blastocyst3 / 6231948
fetus50 / 56401288
neonate3 / 3109796
infant0 / 236200 
juvenile5 / 5555689
adult115 / 193912159
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 
chondrosarcoma6 / 8282372
colorectal tumor4 / 11424635
esophageal tumor1 / 1729057
gastrointestinal tumor9 / 11936975
germ cell tumor37 / 263845140
glioma10 / 10688393
head and neck tumor2 / 13630214
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor3 / 9635931
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia5 / 9725051
normal268 / 336030779
ovarian tumor6 / 7668278
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites2 / 4001549
bladder0 / 297570 
blood5 / 12347840
bone2 / 7165527
bone marrow0 / 488010 
brain151 / 1100989137
cervix0 / 481710 
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus1 / 2020949
eye10 / 21105447
heart4 / 8962644
intestine15 / 23447263
kidney20 / 21177794
larynx0 / 241450 
liver5 / 20774324
lung37 / 336974109
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth3 / 6705244
muscle2 / 10771518
nerve2 / 15768126
ovary6 / 10205158
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta17 / 28082560
prostate21 / 189345110
salivary gland0 / 201550 
skin19 / 21057490
spleen5 / 5395292
stomach3 / 9661931
testis68 / 330442205
thymus26 / 81131320
thyroid0 / 474730 
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord2 / 13680146
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218476_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.9
Adipocyte7.3
AdrenalCortex7.95
Adrenalgland6.1
Amygdala7.8
Appendix8.15
AtrioventricularNode5.6
BDCA4+_DentriticCells8.35
Bonemarrow7.35
BronchialEpithelialCells7.3
CD105+_Endothelial6.9
CD14+_Monocytes7.95
CD19+_BCells(neg._sel.)7.4
CD33+_Myeloid10.1
CD34+14.15
CD4+_Tcells18.95
CD56+_NKCells11.25
CD71+_EarlyErythroid6.85
CD8+_Tcells27.6
CardiacMyocytes9.1
Caudatenucleus7.45
Cerebellum6.85
CerebellumPeduncles8.4
CiliaryGanglion5.25
CingulateCortex7.75
Colorectaladenocarcinoma7.4
DorsalRootGanglion5.55
FetalThyroid9.55
Fetalbrain18.6
Fetalliver6.35
Fetallung6.15
GlobusPallidus5.55
Heart12.7
Hypothalamus8.85
Kidney6.05
Leukemia_chronicMyelogenousK-5626.35
Leukemia_promyelocytic-HL-606.5
Leukemialymphoblastic(MOLT-4)8.15
Liver9.75
Lung8.2
Lymphnode8.25
Lymphoma_burkitts(Daudi)9.2
Lymphoma_burkitts(Raji)10.25
MedullaOblongata6.8
OccipitalLobe6.65
OlfactoryBulb6.25
Ovary4.85
Pancreas5.8
PancreaticIslet7.85
ParietalLobe7.8
Pituitary8.65
Placenta6.9
Pons6.95
PrefrontalCortex9.45
Prostate11.8
Salivarygland5.85
SkeletalMuscle9.6
Skin6.5
SmoothMuscle8.4
Spinalcord8
SubthalamicNucleus8.6
SuperiorCervicalGanglion8.3
TemporalLobe6.65
Testis50.05
TestisGermCell21.7
TestisIntersitial17.95
TestisLeydigCell18.25
TestisSeminiferousTubule19.95
Thalamus7.7
Thymus7.1
Thyroid9.3
Tongue7.25
Tonsil7.2
Trachea6.2
TrigeminalGanglion8.1
Uterus7.9
UterusCorpus6.7
WholeBlood7.2
Wholebrain6.7
colon6.4
pineal_day13.48
pineal_night13.98
retina9.125
small_intestine6.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_518_PI416408490
  • 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
Amygdala3.12 ± 0.86
Basal Forebrain2.11 ± 0.25
Basal Part of Pons2.49 ± 0.55
Cerebellar Cortex3.05 ± 0.67
Cerebellar Nuclei2.68 ± 0.69
Claustrum3.22 ± 0.99
Epithalamus2.38 ± 0.62
Frontal Lobe2.55 ± 0.64
Globus Pallidus2.69 ± 0.63
Hypothalamus2.32 ± 0.42
Insula3.01 ± 0.93
Limbic Lobe3 ± 0.66
Mesencephalon2.88 ± 0.77
Myelencephalon2.73 ± 0.67
Occipital Lobe3.01 ± 0.71
Parietal Lobe2.88 ± 0.76
Pontine Tegmentum2.73 ± 0.66
Striatum2.66 ± 0.82
Subthalamus2.76 ± 0.69
Temporal Lobe2.57 ± 0.68
Thalamus2.6 ± 0.59
White Matter2.56 ± 0.4
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pomt1CBCerebellum13.91
14.6
Pomt1CTXCerebral cortex11
7.19
Pomt1HIPHippocampal region7.72
6.68
Pomt1HPFHippocampal formation9.55
8.07
Pomt1HYHypothalamus1.74
1.2
Pomt1LSXLateral septal complex0.58
0.4
Pomt1MBMidbrain4.64
3.81
Pomt1MYMedulla9.86
9.13
Pomt1OLFOlfactory bulb21.08
14.9
Pomt1PPons8.09
7.76
Pomt1PALPallidum4.52
3.18
Pomt1RHPRetrohippocampal region12.99
10.14
Pomt1sAMYStriatum-like amygdalar nuclei5.47
3.68
Pomt1STRStriatum5.43
3.72
Pomt1STRdStriatum dorsal region4.58
3.15
Pomt1STRvStriatum ventral region9.54
6.18
Pomt1THThalamus3.73
3.01
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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