AutismKB 2.0

Annotation Detail for ATP2A1


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Basic Information Top
Gene Symbol:ATP2A1 ( ATP2A,SERCA1 )
Gene Full Name: ATPase, Ca++ transporting, cardiac muscle, fast twitch 1
Band: 16p11.2
Quick LinksEntrez ID:487; OMIM: 108730; Uniprot ID:AT2A1_HUMAN; ENSEMBL ID: ENSG00000196296; HGNC ID: 811
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 body1 / 7076114
blastocyst3 / 6231948
fetus27 / 56401247
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult116 / 193912159
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor1 / 1142468
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor14 / 136302102
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal174 / 336030751
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma2 / 4635643
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor4 / 12519131
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 
ascites1 / 4001524
bladder1 / 2975733
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain5 / 11009894
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye8 / 21105437
heart10 / 89626111
intestine1 / 2344724
kidney0 / 2117770 
larynx18 / 24145745
liver20 / 20774396
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth33 / 67052492
muscle102 / 107715946
nerve1 / 1576863
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta0 / 2808250 
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus2 / 8113124
thyroid3 / 4747363
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: 205444_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.65
Adipocyte3.6
AdrenalCortex3.8
Adrenalgland3.1
Amygdala3.85
Appendix3.65
AtrioventricularNode2.8
BDCA4+_DentriticCells4.1
Bonemarrow3.65
BronchialEpithelialCells3.65
CD105+_Endothelial3.7
CD14+_Monocytes3.9
CD19+_BCells(neg._sel.)3.95
CD33+_Myeloid4.75
CD34+4.65
CD4+_Tcells4.05
CD56+_NKCells4.45
CD71+_EarlyErythroid3.45
CD8+_Tcells3.6
CardiacMyocytes4.6
Caudatenucleus3.25
Cerebellum2.95
CerebellumPeduncles4.15
CiliaryGanglion2.6
CingulateCortex3.75
Colorectaladenocarcinoma3.65
DorsalRootGanglion2.75
FetalThyroid3.75
Fetalbrain3.65
Fetalliver3.15
Fetallung3.05
GlobusPallidus2.7
Heart4.7
Hypothalamus3.95
Kidney2.95
Leukemia_chronicMyelogenousK-5623.35
Leukemia_promyelocytic-HL-603.2
Leukemialymphoblastic(MOLT-4)3
Liver4.8
Lung4.05
Lymphnode3.15
Lymphoma_burkitts(Daudi)4.7
Lymphoma_burkitts(Raji)5.15
MedullaOblongata3.35
OccipitalLobe3.3
OlfactoryBulb2.9
Ovary2.4
Pancreas2.95
PancreaticIslet3.9
ParietalLobe3.85
Pituitary4.3
Placenta3.8
Pons3.5
PrefrontalCortex4.55
Prostate4.25
Salivarygland2.9
SkeletalMuscle7546.85
Skin2.8
SmoothMuscle4.15
Spinalcord3.9
SubthalamicNucleus3.35
SuperiorCervicalGanglion4.1
TemporalLobe3.35
Testis21.95
TestisGermCell3.15
TestisIntersitial3.1
TestisLeydigCell3.65
TestisSeminiferousTubule3.15
Thalamus3.75
Thymus2.9
Thyroid732.2
Tongue1169.95
Tonsil3.6
Trachea3.1
TrigeminalGanglion3.65
Uterus3
UterusCorpus3.3
WholeBlood4.05
Wholebrain3.1
colon3.7
pineal_day4.58
pineal_night4.5
retina316.125
small_intestine3.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_10945_PI416261804
  • 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
Amygdala2.27 ± 1.07
Basal Forebrain1.75 ± 0.23
Basal Part of Pons1.39 ± 0.31
Cerebellar Cortex1.49 ± 0.56
Cerebellar Nuclei2.09 ± 0.72
Claustrum2.44 ± 0.68
Epithalamus1.42 ± 0.81
Frontal Lobe1.58 ± 0.62
Globus Pallidus2.57 ± 0.87
Hypothalamus1.8 ± 0.75
Insula1.57 ± 0.48
Limbic Lobe1.73 ± 0.61
Mesencephalon1.93 ± 0.71
Myelencephalon1.81 ± 0.7
Occipital Lobe1.79 ± 0.69
Parietal Lobe1.83 ± 0.79
Pontine Tegmentum1.76 ± 0.74
Striatum2.26 ± 1.07
Subthalamus1.91 ± 0.71
Temporal Lobe1.65 ± 0.69
Thalamus1.74 ± 0.6
White Matter2.18 ± 0.21
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AT2A1_HUMAN_175 15 175 189 VDQSILTGESVSVIK PRIDE
AT2A1_HUMAN_712 16 712 727 KAEIGIAMGSGTAVAK PRIDE
AT2A1_HUMAN_729 23 729 751 TASEMVLADDNFSTIVAAVEEGR PRIDE
PAp00004170 16 713 728 KAEIGIAMGSGTAVAK 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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