AutismKB 2.0

Annotation Detail for POT1


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Basic Information Top
Gene Symbol:POT1 ( DKFZp586D211,HPOT1 )
Gene Full Name: protection of telomeres 1 homolog (S. pombe)
Band: 7q31.33
Quick LinksEntrez ID:25913; OMIM: 606478; Uniprot ID:POTE1_HUMAN; ENSEMBL ID: ENSG00000128513; HGNC ID: 17284
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 body4 / 7076156
blastocyst1 / 6231916
fetus9 / 56401215
neonate2 / 3109764
infant1 / 2362042
juvenile3 / 5555653
adult61 / 193912131
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) tumor4 / 9417842
cervical tumor4 / 34366116
chondrosarcoma2 / 8282324
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor19 / 26384572
glioma2 / 10688318
head and neck tumor4 / 13630229
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor3 / 9635931
lung tumor2 / 10312719
lymphoma2 / 7175527
non-neoplasia5 / 9725051
normal103 / 336030730
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
retinoblastoma2 / 4635643
skin tumor5 / 12494940
soft tissue/muscle tissue tumor11 / 12519187
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 
ascites1 / 4001524
bladder0 / 297570 
blood4 / 12347832
bone2 / 7165527
bone marrow3 / 4880161
brain31 / 110098928
cervix7 / 48171145
connective tissue12 / 14925580
ear1 / 1621261
embryonic tissue6 / 21572227
esophagus0 / 202090 
eye8 / 21105437
heart0 / 896260 
intestine2 / 2344728
kidney6 / 21177728
larynx0 / 241450 
liver5 / 20774324
lung5 / 33697414
lymph2 / 4427045
lymph node2 / 9161021
mammary gland4 / 15327126
mouth3 / 6705244
muscle3 / 10771527
nerve2 / 15768126
ovary1 / 1020519
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta5 / 28082517
prostate3 / 18934515
salivary gland0 / 201550 
skin8 / 21057437
spleen3 / 5395255
stomach1 / 9661910
testis40 / 330442121
thymus5 / 8113161
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus7 / 23287830
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204353_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts31.85
Adipocyte6.15
AdrenalCortex7.2
Adrenalgland5.4
Amygdala6.75
Appendix6.65
AtrioventricularNode5.2
BDCA4+_DentriticCells6.95
Bonemarrow6.5
BronchialEpithelialCells5.8
CD105+_Endothelial8.7
CD14+_Monocytes5.95
CD19+_BCells(neg._sel.)8.85
CD33+_Myeloid7.35
CD34+9.55
CD4+_Tcells8.15
CD56+_NKCells9.4
CD71+_EarlyErythroid7.05
CD8+_Tcells12.1
CardiacMyocytes8.3
Caudatenucleus5.7
Cerebellum5.05
CerebellumPeduncles6.75
CiliaryGanglion4.6
CingulateCortex6.4
Colorectaladenocarcinoma5.9
DorsalRootGanglion4.95
FetalThyroid6.05
Fetalbrain6.35
Fetalliver5.5
Fetallung5.15
GlobusPallidus4.8
Heart8.05
Hypothalamus7
Kidney5.15
Leukemia_chronicMyelogenousK-56213.9
Leukemia_promyelocytic-HL-605.6
Leukemialymphoblastic(MOLT-4)18.9
Liver8.3
Lung6.4
Lymphnode5.2
Lymphoma_burkitts(Daudi)18.4
Lymphoma_burkitts(Raji)9.15
MedullaOblongata5.75
OccipitalLobe5.75
OlfactoryBulb5.25
Ovary4.45
Pancreas4.65
PancreaticIslet7.2
ParietalLobe6.85
Pituitary7.45
Placenta6.25
Pons6.15
PrefrontalCortex7.5
Prostate7.15
Salivarygland5.05
SkeletalMuscle7.75
Skin4.85
SmoothMuscle7.15
Spinalcord6.65
SubthalamicNucleus6.05
SuperiorCervicalGanglion8.7
TemporalLobe5.8
Testis5.45
TestisGermCell6.25
TestisIntersitial8.75
TestisLeydigCell7.4
TestisSeminiferousTubule5.65
Thalamus6.3
Thymus4.6
Thyroid8.05
Tongue6.25
Tonsil5.95
Trachea5.2
TrigeminalGanglion10.6
Uterus5.2
UterusCorpus5.65
WholeBlood6.8
Wholebrain4.85
colon6.4
pineal_day9.3
pineal_night10.5
retina8.2
small_intestine6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P309105
  • 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
Amygdala4.27 ± 0.77
Basal Forebrain4.05 ± 0.38
Basal Part of Pons4.26 ± 0.52
Cerebellar Cortex4.41 ± 0.32
Cerebellar Nuclei4.45 ± 0.56
Claustrum3.86 ± 0.55
Epithalamus4.6 ± 0.35
Frontal Lobe4.08 ± 0.45
Globus Pallidus4.33 ± 0.65
Hypothalamus4.72 ± 0.5
Insula3.88 ± 0.57
Limbic Lobe4.01 ± 0.41
Mesencephalon4.24 ± 0.54
Myelencephalon4.11 ± 0.52
Occipital Lobe4.2 ± 0.63
Parietal Lobe4.17 ± 0.48
Pontine Tegmentum4.08 ± 0.49
Striatum4.12 ± 0.55
Subthalamus4.18 ± 0.28
Temporal Lobe4.15 ± 0.45
Thalamus4.03 ± 0.51
White Matter5.3 ± 0.22
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Pot1CBCerebellum0.83
1.09
Pot1CTXCerebral cortex0.69
0.65
Pot1HIPHippocampal region0.67
1.11
Pot1HPFHippocampal formation0.59
0.83
Pot1HYHypothalamus0.28
0.22
Pot1LSXLateral septal complex0.2
0.12
Pot1MBMidbrain0.41
0.32
Pot1MYMedulla1.52
1.65
Pot1OLFOlfactory bulb1.11
2.35
Pot1PPons0.92
0.69
Pot1PALPallidum0.37
0.36
Pot1RHPRetrohippocampal region0.46
0.38
Pot1sAMYStriatum-like amygdalar nuclei0.31
0.33
Pot1STRStriatum0.3
0.25
Pot1STRdStriatum dorsal region0.31
0.27
Pot1STRvStriatum ventral region0.32
0.15
Pot1THThalamus0.32
0.29
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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