AutismKB 2.0

Annotation Detail for ATP1A3


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Basic Information Top
Gene Symbol:ATP1A3 ( DYT12,MGC13276,RDP )
Gene Full Name: ATPase, Na+/K+ transporting, alpha 3 polypeptide
Band: 19q13.2
Quick LinksEntrez ID:478; OMIM: 182350; Uniprot ID:AT1A3_HUMAN; ENSEMBL ID: ENSG00000105409; HGNC ID: 801
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 body2 / 7076128
blastocyst1 / 6231916
fetus43 / 56401276
neonate0 / 310970 
infant4 / 23620169
juvenile5 / 5555689
adult99 / 193912151
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 tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor5 / 26384518
glioma7 / 10688365
head and neck tumor1 / 1363027
kidney tumor4 / 6895958
leukemia4 / 9584241
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma13 / 71755181
non-neoplasia6 / 9725061
normal501 / 3360307149
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS47 / 125680373
prostate cancer0 / 1026800 
retinoblastoma27 / 46356582
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood5 / 12347840
bone0 / 716550 
bone marrow0 / 488010 
brain516 / 1100989468
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye64 / 211054303
heart4 / 8962644
intestine3 / 23447212
kidney4 / 21177718
larynx0 / 241450 
liver0 / 2077430 
lung0 / 3369740 
lymph5 / 44270112
lymph node1 / 9161010
mammary gland4 / 15327126
mouth0 / 670520 
muscle5 / 10771546
nerve2 / 15768126
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis19 / 33044257
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus0 / 2328780 
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214432_at
Cell line Expression level Expression bar
721_B_lymphoblasts9
Adipocyte7.6
AdrenalCortex8.55
Adrenalgland8.75
Amygdala872.95
Appendix8.2
AtrioventricularNode6.35
BDCA4+_DentriticCells8.4
Bonemarrow8.05
BronchialEpithelialCells6.4
CD105+_Endothelial8.25
CD14+_Monocytes7.05
CD19+_BCells(neg._sel.)8.95
CD33+_Myeloid9.05
CD34+11.15
CD4+_Tcells9.25
CD56+_NKCells10.05
CD71+_EarlyErythroid7.7
CD8+_Tcells8.05
CardiacMyocytes9.6
Caudatenucleus70.15
Cerebellum195.45
CerebellumPeduncles125.45
CiliaryGanglion6.1
CingulateCortex270.15
Colorectaladenocarcinoma7.5
DorsalRootGanglion23.15
FetalThyroid8.4
Fetalbrain123.15
Fetalliver7.05
Fetallung5.75
GlobusPallidus132.55
Heart172.2
Hypothalamus220
Kidney6.9
Leukemia_chronicMyelogenousK-5627.55
Leukemia_promyelocytic-HL-6011.7
Leukemialymphoblastic(MOLT-4)9.2
Liver10.75
Lung8.2
Lymphnode7.2
Lymphoma_burkitts(Daudi)17.2
Lymphoma_burkitts(Raji)13.35
MedullaOblongata466.7
OccipitalLobe185.7
OlfactoryBulb6.65
Ovary5.8
Pancreas6.65
PancreaticIslet8
ParietalLobe270.4
Pituitary11.2
Placenta8.7
Pons148.25
PrefrontalCortex804.35
Prostate9.8
Salivarygland6.85
SkeletalMuscle15.95
Skin6.15
SmoothMuscle7.4
Spinalcord27.4
SubthalamicNucleus89
SuperiorCervicalGanglion9.5
TemporalLobe131.25
Testis6.8
TestisGermCell12.75
TestisIntersitial12.25
TestisLeydigCell9.95
TestisSeminiferousTubule17
Thalamus410.2
Thymus4.8
Thyroid8.35
Tongue7.95
Tonsil7.3
Trachea5.4
TrigeminalGanglion8.1
Uterus5.35
UterusCorpus13.7
WholeBlood7.45
Wholebrain364.45
colon7.25
pineal_day1202.66
pineal_night924.98
retina298.45
small_intestine6.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P27472
  • 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
Amygdala8.93 ± 0.43
Basal Forebrain8.52 ± 0.16
Basal Part of Pons9.48 ± 0.14
Cerebellar Cortex9.22 ± 0.3
Cerebellar Nuclei9.1 ± 0.31
Claustrum8.7 ± 0.42
Epithalamus8.01 ± 0.6
Frontal Lobe9.07 ± 0.42
Globus Pallidus8.43 ± 0.24
Hypothalamus8.63 ± 0.31
Insula8.92 ± 0.45
Limbic Lobe9.11 ± 0.42
Mesencephalon8.79 ± 0.49
Myelencephalon8.9 ± 0.48
Occipital Lobe8.87 ± 0.37
Parietal Lobe9.05 ± 0.37
Pontine Tegmentum8.9 ± 0.3
Striatum8.32 ± 0.27
Subthalamus9.14 ± 0.25
Temporal Lobe8.97 ± 0.35
Thalamus8.99 ± 0.35
White Matter7.28 ± 0.4
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp1a3CBCerebellum94.35
100
Atp1a3CTXCerebral cortex100
100
Atp1a3HIPHippocampal region100
100
Atp1a3HPFHippocampal formation100
100
Atp1a3HYHypothalamus100
100
Atp1a3LSXLateral septal complex100
100
Atp1a3MBMidbrain100
100
Atp1a3MYMedulla100
100
Atp1a3OLFOlfactory bulb100
100
Atp1a3PPons100
100
Atp1a3PALPallidum100
100
Atp1a3RHPRetrohippocampal region100
100
Atp1a3sAMYStriatum-like amygdalar nuclei100
100
Atp1a3STRStriatum100
100
Atp1a3STRdStriatum dorsal region100
100
Atp1a3STRvStriatum ventral region100
100
Atp1a3THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003156 18 620 637 GVGIISEGNETVEDIAAR 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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