AutismKB 2.0

Annotation Detail for ATP8A1


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Basic Information Top
Gene Symbol:ATP8A1 ( ATPASEII,ATPIA,ATPP2,MGC130042,MGC130043,MGC26327 )
Gene Full Name: ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1
Band: 4p13
Quick LinksEntrez ID:10396; OMIM: 609542; Uniprot ID:AT8A1_HUMAN; ENSEMBL ID: ENSG00000124406; HGNC ID: 13531
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
blastocyst2 / 6231932
fetus23 / 56401240
neonate1 / 3109732
infant1 / 2362042
juvenile3 / 5555653
adult71 / 193912136
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor0 / 2638450 
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor4 / 6895958
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia11 / 97250113
normal173 / 336030751
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma4 / 4635686
skin tumor1 / 1249498
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone1 / 7165513
bone marrow0 / 488010 
brain98 / 110098989
cervix0 / 481710 
connective tissue2 / 14925513
ear3 / 16212185
embryonic tissue10 / 21572246
esophagus1 / 2020949
eye14 / 21105466
heart0 / 896260 
intestine3 / 23447212
kidney8 / 21177737
larynx0 / 241450 
liver2 / 2077439
lung2 / 3369745
lymph1 / 4427022
lymph node13 / 91610141
mammary gland0 / 1532710 
mouth1 / 6705214
muscle8 / 10771574
nerve3 / 15768190
ovary2 / 10205119
pancreas10 / 21481246
parathyroid7 / 20539340
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta2 / 2808257
prostate10 / 18934552
salivary gland0 / 201550 
skin1 / 2105744
spleen1 / 5395218
stomach1 / 9661910
testis1 / 3304423
thymus5 / 8113161
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213106_at
Cell line Expression level Expression bar
721_B_lymphoblasts92.2
Adipocyte10.3
AdrenalCortex24.45
Adrenalgland11.65
Amygdala445.1
Appendix25.05
AtrioventricularNode16.55
BDCA4+_DentriticCells95.2
Bonemarrow18.4
BronchialEpithelialCells8.4
CD105+_Endothelial10.55
CD14+_Monocytes20.1
CD19+_BCells(neg._sel.)55.05
CD33+_Myeloid30.25
CD34+52.35
CD4+_Tcells110
CD56+_NKCells138.45
CD71+_EarlyErythroid8.1
CD8+_Tcells150.05
CardiacMyocytes19.95
Caudatenucleus279.5
Cerebellum17.7
CerebellumPeduncles22.7
CiliaryGanglion13.75
CingulateCortex98.45
Colorectaladenocarcinoma8.85
DorsalRootGanglion22.65
FetalThyroid96.05
Fetalbrain269.5
Fetalliver14.35
Fetallung32.65
GlobusPallidus45.5
Heart15
Hypothalamus275.1
Kidney12.7
Leukemia_chronicMyelogenousK-5627.85
Leukemia_promyelocytic-HL-60130.25
Leukemialymphoblastic(MOLT-4)10.6
Liver23.35
Lung15.15
Lymphnode46.8
Lymphoma_burkitts(Daudi)87.7
Lymphoma_burkitts(Raji)142.6
MedullaOblongata207.75
OccipitalLobe257.2
OlfactoryBulb69.7
Ovary11.15
Pancreas11.35
PancreaticIslet14.1
ParietalLobe151.75
Pituitary43.7
Placenta10.15
Pons60.5
PrefrontalCortex403.75
Prostate30.85
Salivarygland18.9
SkeletalMuscle27.45
Skin13.15
SmoothMuscle12.7
Spinalcord252.5
SubthalamicNucleus107.5
SuperiorCervicalGanglion40.75
TemporalLobe50.6
Testis7.55
TestisGermCell8.4
TestisIntersitial8.7
TestisLeydigCell13.8
TestisSeminiferousTubule9.15
Thalamus86.7
Thymus11.9
Thyroid254.45
Tongue13.45
Tonsil22.9
Trachea11
TrigeminalGanglion22.05
Uterus13.8
UterusCorpus17
WholeBlood25.6
Wholebrain80.1
colon63.5
pineal_day323.64
pineal_night377.58
retina97.825
small_intestine17.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P30075
  • 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
Amygdala9.31 ± 0.43
Basal Forebrain9.44 ± 0.3
Basal Part of Pons8.95 ± 0.46
Cerebellar Cortex8.83 ± 0.23
Cerebellar Nuclei9.18 ± 0.44
Claustrum9.4 ± 0.39
Epithalamus8.78 ± 0.47
Frontal Lobe9.28 ± 0.41
Globus Pallidus9.35 ± 0.4
Hypothalamus9.75 ± 0.46
Insula9.39 ± 0.31
Limbic Lobe9.66 ± 0.45
Mesencephalon9.21 ± 0.49
Myelencephalon9.34 ± 0.53
Occipital Lobe9.13 ± 0.53
Parietal Lobe9.29 ± 0.48
Pontine Tegmentum9.5 ± 0.37
Striatum9.99 ± 0.28
Subthalamus9.39 ± 0.4
Temporal Lobe9.45 ± 0.39
Thalamus8.94 ± 0.58
White Matter11.28 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp8a1CBCerebellum44.57
49.66
Atp8a1CTXCerebral cortex100
100
Atp8a1HIPHippocampal region100
100
Atp8a1HPFHippocampal formation100
100
Atp8a1HYHypothalamus100
86.85
Atp8a1LSXLateral septal complex90.67
68.64
Atp8a1MBMidbrain95.86
79.5
Atp8a1MYMedulla84.23
78.42
Atp8a1OLFOlfactory bulb100
100
Atp8a1PPons75.47
65.62
Atp8a1PALPallidum86.28
72.94
Atp8a1RHPRetrohippocampal region100
100
Atp8a1sAMYStriatum-like amygdalar nuclei100
98.97
Atp8a1STRStriatum100
96.85
Atp8a1STRdStriatum dorsal region100
99.97
Atp8a1STRvStriatum ventral region100
94.12
Atp8a1THThalamus44.94
39.93
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AT8A1_HUMAN_227 10 227 236 HLYDFVGNIR PRIDE
PAp00001412 18 424 441 CTIAGVAYGQNSQFGDEK 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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