AutismKB 2.0

Annotation Detail for ATP1A1


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Basic Information Top
Gene Symbol:ATP1A1 ( MGC3285,MGC51750 )
Gene Full Name: ATPase, Na+/K+ transporting, alpha 1 polypeptide
Band: 1p13.1
Quick LinksEntrez ID:476; OMIM: 182310; Uniprot ID:AT1A1_HUMAN; ENSEMBL ID: ENSG00000163399; HGNC ID: 799
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 body37 / 70761522
blastocyst23 / 62319369
fetus91 / 564012161
neonate2 / 3109764
infant6 / 23620254
juvenile45 / 55556809
adult968 / 1939121499
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma4 / 17475228
breast (mammary gland) tumor62 / 94178658
cervical tumor12 / 34366349
chondrosarcoma43 / 82823519
colorectal tumor190 / 1142461663
esophageal tumor4 / 17290231
gastrointestinal tumor65 / 119369544
germ cell tumor150 / 263845568
glioma22 / 106883205
head and neck tumor130 / 136302953
kidney tumor55 / 68959797
leukemia32 / 95842333
liver tumor42 / 96359435
lung tumor24 / 103127232
lymphoma9 / 71755125
non-neoplasia35 / 97250359
normal1106 / 3360307329
ovarian tumor128 / 766821669
pancreatic tumor74 / 104616707
primitive neuroectodermal tumor of the CNS116 / 125680922
prostate cancer119 / 1026801158
retinoblastoma14 / 46356302
skin tumor278 / 1249492224
soft tissue/muscle tissue tumor23 / 125191183
uterine tumor75 / 90257830
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland5 / 33197150
ascites12 / 40015299
bladder9 / 29757302
blood36 / 123478291
bone30 / 71655418
bone marrow8 / 48801163
brain600 / 1100989544
cervix13 / 48171269
connective tissue31 / 149255207
ear0 / 162120 
embryonic tissue85 / 215722394
esophagus4 / 20209197
eye76 / 211054360
heart12 / 89626133
intestine256 / 2344721091
kidney127 / 211777599
larynx19 / 24145786
liver57 / 207743274
lung103 / 336974305
lymph5 / 44270112
lymph node15 / 91610163
mammary gland96 / 153271626
mouth34 / 67052507
muscle25 / 107715232
nerve17 / 157681078
ovary167 / 1020511636
pancreas116 / 214812540
parathyroid17 / 20539827
pharynx7 / 41328169
pituitary gland7 / 16585422
placenta83 / 280825295
prostate146 / 189345771
salivary gland3 / 20155148
skin327 / 2105741552
spleen10 / 53952185
stomach48 / 96619496
testis169 / 330442511
thymus21 / 81131258
thyroid101 / 474732127
tonsil0 / 169990 
trachea36 / 52413686
umbilical cord6 / 13680438
uterus103 / 232878442
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220948_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts1669.9
Adipocyte342.3
AdrenalCortex331.4
Adrenalgland275.25
Amygdala705.55
Appendix137.25
AtrioventricularNode181.6
BDCA4+_DentriticCells769.25
Bonemarrow239.3
BronchialEpithelialCells755.5
CD105+_Endothelial464.15
CD14+_Monocytes510.25
CD19+_BCells(neg._sel.)322.85
CD33+_Myeloid770.1
CD34+476.4
CD4+_Tcells849.5
CD56+_NKCells797.5
CD71+_EarlyErythroid808.85
CD8+_Tcells621.4
CardiacMyocytes603
Caudatenucleus500.35
Cerebellum1365.35
CerebellumPeduncles1444.2
CiliaryGanglion234.7
CingulateCortex1143.35
Colorectaladenocarcinoma1308.35
DorsalRootGanglion441.25
FetalThyroid2218.65
Fetalbrain546.95
Fetalliver190.25
Fetallung911.6
GlobusPallidus793.9
Heart248.2
Hypothalamus700.35
Kidney2424.2
Leukemia_chronicMyelogenousK-562457.45
Leukemia_promyelocytic-HL-60245.7
Leukemialymphoblastic(MOLT-4)174.1
Liver236.05
Lung1060.05
Lymphnode292.95
Lymphoma_burkitts(Daudi)501.25
Lymphoma_burkitts(Raji)281.2
MedullaOblongata912.75
OccipitalLobe759.3
OlfactoryBulb810.4
Ovary194.85
Pancreas1074.25
PancreaticIslet1493.15
ParietalLobe861
Pituitary877.25
Placenta918.5
Pons651.75
PrefrontalCortex1666.15
Prostate1023.05
Salivarygland1280.85
SkeletalMuscle183.55
Skin391.1
SmoothMuscle664.4
Spinalcord587.45
SubthalamicNucleus893.3
SuperiorCervicalGanglion230.15
TemporalLobe741.45
Testis547.9
TestisGermCell1077.2
TestisIntersitial382.7
TestisLeydigCell389.1
TestisSeminiferousTubule509.7
Thalamus636.4
Thymus266.3
Thyroid4028.45
Tongue173.7
Tonsil210.4
Trachea496.8
TrigeminalGanglion313.8
Uterus150
UterusCorpus116.3
WholeBlood320.9
Wholebrain1479.45
colon1650.1
pineal_day2517.9
pineal_night2558.98
retina1094.05
small_intestine2197.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P1072
  • 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
Amygdala9.88 ± 0.61
Basal Forebrain9.53 ± 0.33
Basal Part of Pons10.82 ± 0.2
Cerebellar Cortex10.62 ± 0.33
Cerebellar Nuclei9.77 ± 0.43
Claustrum9.38 ± 0.39
Epithalamus9.51 ± 0.31
Frontal Lobe10.42 ± 0.55
Globus Pallidus8.57 ± 0.29
Hypothalamus9.55 ± 0.33
Insula10.35 ± 0.3
Limbic Lobe10.2 ± 0.77
Mesencephalon9.76 ± 0.47
Myelencephalon10.01 ± 0.61
Occipital Lobe9.9 ± 0.61
Parietal Lobe10.24 ± 0.66
Pontine Tegmentum10.11 ± 0.59
Striatum9.52 ± 0.54
Subthalamus10.16 ± 0.24
Temporal Lobe10.25 ± 0.47
Thalamus9.97 ± 0.25
White Matter8.73 ± 0.57
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp1a1CBCerebellum100
100
Atp1a1CTXCerebral cortex100
100
Atp1a1HIPHippocampal region100
100
Atp1a1HPFHippocampal formation100
100
Atp1a1HYHypothalamus84.73
89.11
Atp1a1LSXLateral septal complex100
100
Atp1a1MBMidbrain77.96
84.62
Atp1a1MYMedulla78.75
94.69
Atp1a1OLFOlfactory bulb100
100
Atp1a1PPons69.91
79.18
Atp1a1PALPallidum80.47
87.93
Atp1a1RHPRetrohippocampal region100
100
Atp1a1sAMYStriatum-like amygdalar nuclei100
100
Atp1a1STRStriatum100
100
Atp1a1STRdStriatum dorsal region100
100
Atp1a1STRvStriatum ventral region100
100
Atp1a1THThalamus93.26
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AT1A1_HUMAN_163 11 163 173 NMVPQQALVIR PRIDE
AT1A1_HUMAN_212 15 212 226 VDNSSLTGESEPQTR PRIDE
AT1A1_HUMAN_213 15 213 227 VDNSSLTGESEPQTR PRIDE
AT1A1_HUMAN_227 13 227 239 SPDFTNENPLETR PRIDE
AT1A1_HUMAN_228 13 228 240 SPDFTNENPLETR PRIDE
AT1A1_HUMAN_255 9 255 263 GIVVYTGDR PRIDE
AT1A1_HUMAN_430 14 430 443 AVFQANQENLPILK PRIDE
AT1A1_HUMAN_431 14 431 444 AVFQANQENLPILK PRIDE
AT1A1_HUMAN_445 13 445 457 AVAGDASESALLK PRIDE
AT1A1_HUMAN_446 13 446 458 AVAGDASESALLK PRIDE
AT1A1_HUMAN_477 11 477 487 IVEIPFNSTNK PRIDE
AT1A1_HUMAN_495 14 495 508 NPNTSEPQHLLVMK PRIDE
AT1A1_HUMAN_526 25 526 550 EQPLDEELKDAFQNAYLELGGLGER PRIDE
AT1A1_HUMAN_612 13 612 624 VIMVTGDHPITAK PRIDE
AT1A1_HUMAN_629 18 629 646 GVGIISEGNETVEDIAAR PRIDE
AT1A1_HUMAN_630 18 630 647 GVGIISEGNETVEDIAAR PRIDE
AT1A1_HUMAN_647 11 647 657 LNIPVSQVNPR PRIDE
AT1A1_HUMAN_648 11 648 658 LNIPVSQVNPR PRIDE
AT1A1_HUMAN_672 12 672 683 DMTSEQLDDILK PRIDE
AT1A1_HUMAN_684 9 684 692 YHTEIVFAR PRIDE
AT1A1_HUMAN_698 9 698 706 LIIVEGCQR PRIDE
PAp00000239 10 662 671 ACVVHGSDLK 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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