AutismKB 2.0

Annotation Detail for ATP9A


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Basic Information Top
Gene Symbol:ATP9A ( ATPIIA,KIAA0611 )
Gene Full Name: ATPase, class II, type 9A
Band: 20q13.2
Quick LinksEntrez ID:10079; OMIM: 609126; Uniprot ID:ATP9A_HUMAN; ENSEMBL ID: ENSG00000054793; HGNC ID: 13540
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 body3 / 7076142
blastocyst1 / 6231916
fetus56 / 56401299
neonate1 / 3109732
infant0 / 236200 
juvenile5 / 5555689
adult171 / 193912188
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma2 / 17475114
breast (mammary gland) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma4 / 8282348
colorectal tumor18 / 114246157
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor14 / 26384553
glioma9 / 10688384
head and neck tumor10 / 13630273
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor6 / 10312758
lymphoma1 / 7175513
non-neoplasia13 / 97250133
normal279 / 336030783
ovarian tumor7 / 7668291
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer6 / 10268058
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder4 / 29757134
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain173 / 1100989157
cervix1 / 4817120
connective tissue5 / 14925533
ear2 / 16212123
embryonic tissue10 / 21572246
esophagus0 / 202090 
eye9 / 21105442
heart6 / 8962666
intestine30 / 234472127
kidney11 / 21177751
larynx4 / 24145165
liver3 / 20774314
lung17 / 33697450
lymph0 / 442700 
lymph node1 / 9161010
mammary gland11 / 15327171
mouth2 / 6705229
muscle10 / 10771592
nerve5 / 15768317
ovary8 / 10205178
pancreas11 / 21481251
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta6 / 28082521
prostate14 / 18934573
salivary gland0 / 201550 
skin6 / 21057428
spleen0 / 539520 
stomach4 / 9661941
testis24 / 33044272
thymus4 / 8113149
thyroid5 / 47473105
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus4 / 23287817
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212062_at
Cell line Expression level Expression bar
721_B_lymphoblasts12.6
Adipocyte49.95
AdrenalCortex10.7
Adrenalgland19
Amygdala544.8
Appendix12.8
AtrioventricularNode10.95
BDCA4+_DentriticCells10.65
Bonemarrow10.05
BronchialEpithelialCells11.8
CD105+_Endothelial13.65
CD14+_Monocytes10.7
CD19+_BCells(neg._sel.)10.6
CD33+_Myeloid12.55
CD34+19.05
CD4+_Tcells11.05
CD56+_NKCells18.65
CD71+_EarlyErythroid9.65
CD8+_Tcells10.15
CardiacMyocytes11.6
Caudatenucleus321.45
Cerebellum196.35
CerebellumPeduncles281.1
CiliaryGanglion67.5
CingulateCortex322.2
Colorectaladenocarcinoma113.55
DorsalRootGanglion21.75
FetalThyroid120.45
Fetalbrain757.55
Fetalliver12
Fetallung24.15
GlobusPallidus174.4
Heart13.35
Hypothalamus729.55
Kidney11.95
Leukemia_chronicMyelogenousK-5629.5
Leukemia_promyelocytic-HL-608.85
Leukemialymphoblastic(MOLT-4)8.75
Liver13.55
Lung30.05
Lymphnode9.6
Lymphoma_burkitts(Daudi)12.8
Lymphoma_burkitts(Raji)8.85
MedullaOblongata382.4
OccipitalLobe413.25
OlfactoryBulb52.35
Ovary11.65
Pancreas39.3
PancreaticIslet113.55
ParietalLobe328.4
Pituitary87.1
Placenta11.4
Pons202.35
PrefrontalCortex1054.15
Prostate72.4
Salivarygland52.6
SkeletalMuscle11.95
Skin8.2
SmoothMuscle17.1
Spinalcord264.35
SubthalamicNucleus238.4
SuperiorCervicalGanglion11.85
TemporalLobe260.65
Testis39.05
TestisGermCell118.85
TestisIntersitial23.05
TestisLeydigCell17.3
TestisSeminiferousTubule42.8
Thalamus285.65
Thymus18.15
Thyroid120.85
Tongue10.7
Tonsil10.25
Trachea42.55
TrigeminalGanglion17.95
Uterus22.4
UterusCorpus10.3
WholeBlood10.2
Wholebrain464.05
colon61.15
pineal_day311.1
pineal_night346.42
retina125.525
small_intestine30.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P135992
  • 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
Amygdala7.61 ± 0.37
Basal Forebrain7.38 ± 0.24
Basal Part of Pons7.15 ± 0.38
Cerebellar Cortex7.35 ± 0.33
Cerebellar Nuclei6.81 ± 0.39
Claustrum7.76 ± 0.49
Epithalamus6.76 ± 0.44
Frontal Lobe7.07 ± 0.36
Globus Pallidus6.81 ± 0.31
Hypothalamus7.17 ± 0.35
Insula7.08 ± 0.26
Limbic Lobe7.45 ± 0.37
Mesencephalon7.21 ± 0.41
Myelencephalon7.24 ± 0.33
Occipital Lobe7.38 ± 0.37
Parietal Lobe7.28 ± 0.4
Pontine Tegmentum7.2 ± 0.39
Striatum7.47 ± 0.35
Subthalamus6.92 ± 0.17
Temporal Lobe7.24 ± 0.32
Thalamus7.06 ± 0.29
White Matter7.15 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp9aCBCerebellum16.6
17.52
Atp9aCTXCerebral cortex57.15
45.05
Atp9aHIPHippocampal region35.13
42.7
Atp9aHPFHippocampal formation35.36
37.11
Atp9aHYHypothalamus20.5
17.65
Atp9aLSXLateral septal complex21.29
14.57
Atp9aMBMidbrain24
22.34
Atp9aMYMedulla33.22
37.83
Atp9aOLFOlfactory bulb45.44
37.23
Atp9aPPons23.34
25.67
Atp9aPALPallidum21.56
20.63
Atp9aRHPRetrohippocampal region36.44
30.31
Atp9asAMYStriatum-like amygdalar nuclei31.66
24.17
Atp9aSTRStriatum22.53
16.71
Atp9aSTRdStriatum dorsal region19.45
14.72
Atp9aSTRvStriatum ventral region28.19
19.38
Atp9aTHThalamus28.7
25.66
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ATP9A_HUMAN_2 10 2 11 TDNIPLQPVR PRIDE
PAp00042808 30 776 805 TGKLTCAVGDGGNDVSMIQESDCGVGVEGK 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