AutismKB 2.0

Annotation Detail for ATP13A3


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Basic Information Top
Gene Symbol:ATP13A3 ( AFURS1,DKFZp686K16189,FLJ90613 )
Gene Full Name: ATPase type 13A3
Band: 3q29
Quick LinksEntrez ID:79572; OMIM: 610232; Uniprot ID:AT133_HUMAN; ENSEMBL ID: ENSG00000133657; HGNC ID: 24113
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
fetus20 / 56401235
neonate3 / 3109796
infant0 / 236200 
juvenile5 / 5555689
adult154 / 193912179
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma3 / 17475171
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma7 / 8282384
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor12 / 119369100
germ cell tumor18 / 26384568
glioma6 / 10688356
head and neck tumor28 / 136302205
kidney tumor5 / 6895972
leukemia2 / 9584220
liver tumor6 / 9635962
lung tumor3 / 10312729
lymphoma5 / 7175569
non-neoplasia6 / 9725061
normal213 / 336030763
ovarian tumor6 / 7668278
pancreatic tumor9 / 10461686
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer7 / 10268068
retinoblastoma4 / 4635686
skin tumor7 / 12494956
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder6 / 29757201
blood9 / 12347872
bone3 / 7165541
bone marrow2 / 4880140
brain44 / 110098939
cervix0 / 481710 
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye12 / 21105456
heart4 / 8962644
intestine12 / 23447251
kidney22 / 211777103
larynx9 / 24145372
liver13 / 20774362
lung23 / 33697468
lymph3 / 4427067
lymph node15 / 91610163
mammary gland8 / 15327152
mouth10 / 67052149
muscle15 / 107715139
nerve3 / 15768190
ovary7 / 10205168
pancreas11 / 21481251
parathyroid3 / 20539146
pharynx4 / 4132896
pituitary gland1 / 1658560
placenta27 / 28082596
prostate12 / 18934563
salivary gland1 / 2015549
skin17 / 21057480
spleen0 / 539520 
stomach5 / 9661951
testis13 / 33044239
thymus3 / 8113136
thyroid6 / 47473126
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus22 / 23287894
vascular11 / 51780212
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212297_at
Cell line Expression level Expression bar
721_B_lymphoblasts159.5
Adipocyte61
AdrenalCortex71.2
Adrenalgland29.4
Amygdala87.4
Appendix63.5
AtrioventricularNode47.95
BDCA4+_DentriticCells42.45
Bonemarrow53.85
BronchialEpithelialCells139.45
CD105+_Endothelial151.8
CD14+_Monocytes56.15
CD19+_BCells(neg._sel.)45.25
CD33+_Myeloid62.25
CD34+111.05
CD4+_Tcells74.85
CD56+_NKCells48.55
CD71+_EarlyErythroid67.55
CD8+_Tcells47.15
CardiacMyocytes546.05
Caudatenucleus43.45
Cerebellum38.5
CerebellumPeduncles62.15
CiliaryGanglion51.1
CingulateCortex43.75
Colorectaladenocarcinoma330.25
DorsalRootGanglion54.65
FetalThyroid100.9
Fetalbrain89.95
Fetalliver118.7
Fetallung104.8
GlobusPallidus38.35
Heart65.25
Hypothalamus52.15
Kidney40.6
Leukemia_chronicMyelogenousK-56246
Leukemia_promyelocytic-HL-60142.7
Leukemialymphoblastic(MOLT-4)81.35
Liver42
Lung34
Lymphnode79.9
Lymphoma_burkitts(Daudi)107.6
Lymphoma_burkitts(Raji)156.9
MedullaOblongata34.3
OccipitalLobe39.35
OlfactoryBulb41.05
Ovary38.5
Pancreas66.75
PancreaticIslet89.55
ParietalLobe51.85
Pituitary54.15
Placenta56.6
Pons48
PrefrontalCortex72.95
Prostate63.95
Salivarygland41.6
SkeletalMuscle73.85
Skin56.4
SmoothMuscle1360.55
Spinalcord53.1
SubthalamicNucleus44.7
SuperiorCervicalGanglion70.65
TemporalLobe42.7
Testis31.2
TestisGermCell27.7
TestisIntersitial43.95
TestisLeydigCell46.55
TestisSeminiferousTubule32.95
Thalamus47.1
Thymus25.5
Thyroid658.65
Tongue48.6
Tonsil58
Trachea43.05
TrigeminalGanglion70.25
Uterus86.95
UterusCorpus54.65
WholeBlood48.35
Wholebrain32.5
colon74.7
pineal_day73.96
pineal_night79.36
retina74.6
small_intestine79.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P155185
  • 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
Amygdala7.18 ± 0.48
Basal Forebrain7.4 ± 0.23
Basal Part of Pons7.43 ± 0.34
Cerebellar Cortex7.43 ± 0.27
Cerebellar Nuclei7.34 ± 0.27
Claustrum6.92 ± 0.47
Epithalamus7.21 ± 0.51
Frontal Lobe7.25 ± 0.37
Globus Pallidus6.68 ± 0.4
Hypothalamus7.3 ± 0.41
Insula7.17 ± 0.29
Limbic Lobe7.37 ± 0.41
Mesencephalon7.27 ± 0.43
Myelencephalon7.26 ± 0.37
Occipital Lobe7.77 ± 0.27
Parietal Lobe7.4 ± 0.32
Pontine Tegmentum7.34 ± 0.39
Striatum7.85 ± 0.33
Subthalamus7.15 ± 0.7
Temporal Lobe7.3 ± 0.35
Thalamus7.3 ± 0.37
White Matter6.71 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp13a3CBCerebellum26.65
49.1
Atp13a3CTXCerebral cortex57
46.12
Atp13a3HIPHippocampal region42.5
69.97
Atp13a3HPFHippocampal formation49.79
63.18
Atp13a3HYHypothalamus12.31
9.76
Atp13a3LSXLateral septal complex16.12
13.65
Atp13a3MBMidbrain22.62
21.56
Atp13a3MYMedulla27.43
32.35
Atp13a3OLFOlfactory bulb42.7
36.49
Atp13a3PPons23.09
25.23
Atp13a3PALPallidum20.13
18.41
Atp13a3RHPRetrohippocampal region65.56
57.19
Atp13a3sAMYStriatum-like amygdalar nuclei47.3
36.58
Atp13a3STRStriatum35.92
28.4
Atp13a3STRdStriatum dorsal region36.14
29.18
Atp13a3STRvStriatum ventral region34.87
25.23
Atp13a3THThalamus13.36
15.88
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00040361 28 653 680 GAPEAIAGLCKPETVPVDFQNVLEDFTK 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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