AutismKB 2.0

Annotation Detail for TPCN1


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Basic Information Top
Gene Symbol:TPCN1 ( FLJ20612,KIAA1169,TPC1 )
Gene Full Name: two pore segment channel 1
Band: 12q24.13
Quick LinksEntrez ID:53373; OMIM: 609666; Uniprot ID:TPC1_HUMAN; ENSEMBL ID: ENSG00000186815; HGNC ID: 18182
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 body6 / 7076184
blastocyst1 / 6231916
fetus22 / 56401239
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult161 / 193912183
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor3 / 9417831
cervical tumor2 / 3436658
chondrosarcoma12 / 82823144
colorectal tumor11 / 11424696
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor2 / 2638457
glioma7 / 10688365
head and neck tumor10 / 13630273
kidney tumor4 / 6895958
leukemia4 / 9584241
liver tumor12 / 96359124
lung tumor5 / 10312748
lymphoma7 / 7175597
non-neoplasia6 / 9725061
normal223 / 336030766
ovarian tumor6 / 7668278
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor17 / 124949136
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites4 / 4001599
bladder3 / 29757100
blood2 / 12347816
bone8 / 71655111
bone marrow0 / 488010 
brain69 / 110098962
cervix3 / 4817162
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye22 / 211054104
heart2 / 8962622
intestine21 / 23447289
kidney29 / 211777136
larynx1 / 2414541
liver13 / 20774362
lung25 / 33697474
lymph7 / 44270158
lymph node18 / 91610196
mammary gland6 / 15327139
mouth1 / 6705214
muscle4 / 10771537
nerve1 / 1576863
ovary7 / 10205168
pancreas11 / 21481251
parathyroid3 / 20539146
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta19 / 28082567
prostate12 / 18934563
salivary gland0 / 201550 
skin20 / 21057494
spleen2 / 5395237
stomach6 / 9661962
testis14 / 33044242
thymus2 / 8113124
thyroid13 / 47473273
tonsil4 / 16999235
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 217914_at
Cell line Expression level Expression bar
721_B_lymphoblasts180.25
Adipocyte53.5
AdrenalCortex133.3
Adrenalgland116.7
Amygdala109.65
Appendix69.5
AtrioventricularNode57.4
BDCA4+_DentriticCells168.1
Bonemarrow37.8
BronchialEpithelialCells51.45
CD105+_Endothelial99.75
CD14+_Monocytes290.05
CD19+_BCells(neg._sel.)118.7
CD33+_Myeloid508.7
CD34+118.5
CD4+_Tcells100.6
CD56+_NKCells29.65
CD71+_EarlyErythroid43.55
CD8+_Tcells71.9
CardiacMyocytes60.8
Caudatenucleus134.8
Cerebellum142.05
CerebellumPeduncles131.55
CiliaryGanglion54.6
CingulateCortex122.8
Colorectaladenocarcinoma68.9
DorsalRootGanglion92.9
FetalThyroid109.5
Fetalbrain40.85
Fetalliver31.2
Fetallung68.5
GlobusPallidus75.75
Heart385.5
Hypothalamus92.1
Kidney220
Leukemia_chronicMyelogenousK-56277.8
Leukemia_promyelocytic-HL-60167.7
Leukemialymphoblastic(MOLT-4)51.45
Liver106.95
Lung94.4
Lymphnode99.6
Lymphoma_burkitts(Daudi)319.9
Lymphoma_burkitts(Raji)789.3
MedullaOblongata75.45
OccipitalLobe65.9
OlfactoryBulb186.7
Ovary57.75
Pancreas97.5
PancreaticIslet155.15
ParietalLobe86.4
Pituitary127.7
Placenta105.4
Pons76.15
PrefrontalCortex167.9
Prostate100.35
Salivarygland81.3
SkeletalMuscle76.1
Skin67.55
SmoothMuscle86.75
Spinalcord143.3
SubthalamicNucleus83.6
SuperiorCervicalGanglion80.5
TemporalLobe63.8
Testis65.75
TestisGermCell51.8
TestisIntersitial42.25
TestisLeydigCell45.95
TestisSeminiferousTubule64.25
Thalamus84.05
Thymus54.45
Thyroid324.1
Tongue85.9
Tonsil74.1
Trachea71.75
TrigeminalGanglion52.3
Uterus108.9
UterusCorpus93.6
WholeBlood58.3
Wholebrain87.8
colon61.75
pineal_day278.5
pineal_night165.94
retina203.025
small_intestine76.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P218086
  • 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
Amygdala9.07 ± 0.18
Basal Forebrain9.3 ± 0.15
Basal Part of Pons9.25 ± 0.2
Cerebellar Cortex9.6 ± 0.26
Cerebellar Nuclei9.47 ± 0.26
Claustrum8.85 ± 0.25
Epithalamus8.87 ± 0.42
Frontal Lobe9.17 ± 0.33
Globus Pallidus9.9 ± 0.57
Hypothalamus8.98 ± 0.18
Insula9.14 ± 0.14
Limbic Lobe9.14 ± 0.27
Mesencephalon9.39 ± 0.46
Myelencephalon9.31 ± 0.4
Occipital Lobe9.64 ± 0.36
Parietal Lobe9.32 ± 0.29
Pontine Tegmentum9.39 ± 0.36
Striatum9.72 ± 0.49
Subthalamus9.62 ± 0.21
Temporal Lobe9.16 ± 0.22
Thalamus9.54 ± 0.32
White Matter9.79 ± 0.09
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Tpcn1CBCerebellum0
0
Tpcn1CTXCerebral cortex0
0
Tpcn1HIPHippocampal region0
0
Tpcn1HPFHippocampal formation0
0
Tpcn1HYHypothalamus0
0
Tpcn1LSXLateral septal complex0
0
Tpcn1MBMidbrain0
0
Tpcn1MYMedulla0
0
Tpcn1OLFOlfactory bulb0
0
Tpcn1PPons0
0
Tpcn1PALPallidum0
0
Tpcn1RHPRetrohippocampal region0
0
Tpcn1sAMYStriatum-like amygdalar nuclei0
0
Tpcn1STRStriatum0
0
Tpcn1STRdStriatum dorsal region0
0
Tpcn1STRvStriatum ventral region0
0
Tpcn1THThalamus0
0
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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