AutismKB 2.0

Annotation Detail for ATP1B1


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Basic Information Top
Gene Symbol:ATP1B1 ( ATP1B,MGC1798 )
Gene Full Name: ATPase, Na+/K+ transporting, beta 1 polypeptide
Band: 1q24.2
Quick LinksEntrez ID:481; OMIM: 182330; Uniprot ID:AT1B1_HUMAN; ENSEMBL ID: ENSG00000143153; HGNC ID: 804
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 body9 / 70761127
blastocyst0 / 623190 
fetus57 / 564012101
neonate1 / 3109732
infant0 / 236200 
juvenile3 / 5555653
adult260 / 1939121134
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor8 / 9417884
cervical tumor3 / 3436687
chondrosarcoma3 / 8282336
colorectal tumor26 / 114246227
esophageal tumor2 / 17290115
gastrointestinal tumor46 / 119369385
germ cell tumor19 / 26384572
glioma2 / 10688318
head and neck tumor17 / 136302124
kidney tumor32 / 68959464
leukemia2 / 9584220
liver tumor13 / 96359134
lung tumor6 / 10312758
lymphoma0 / 717550 
non-neoplasia11 / 97250113
normal500 / 3360307148
ovarian tumor10 / 76682130
pancreatic tumor34 / 104616324
primitive neuroectodermal tumor of the CNS16 / 125680127
prostate cancer8 / 10268077
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland3 / 3319790
ascites5 / 40015124
bladder5 / 29757168
blood1 / 1234788
bone0 / 716550 
bone marrow2 / 4880140
brain414 / 1100989376
cervix4 / 4817183
connective tissue6 / 14925540
ear1 / 1621261
embryonic tissue11 / 21572250
esophagus2 / 2020998
eye23 / 211054108
heart6 / 8962666
intestine38 / 234472162
kidney84 / 211777396
larynx0 / 241450 
liver23 / 207743110
lung60 / 336974178
lymph0 / 442700 
lymph node2 / 9161021
mammary gland14 / 15327191
mouth12 / 67052178
muscle12 / 107715111
nerve0 / 157680 
ovary12 / 102051117
pancreas70 / 214812325
parathyroid17 / 20539827
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta7 / 28082524
prostate19 / 189345100
salivary gland1 / 2015549
skin5 / 21057423
spleen1 / 5395218
stomach52 / 96619538
testis18 / 33044254
thymus0 / 811310 
thyroid11 / 47473231
tonsil1 / 1699958
trachea2 / 5241338
umbilical cord0 / 136800 
uterus15 / 23287864
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201242_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts371.35
Adipocyte11.2
AdrenalCortex129.6
Adrenalgland475.7
Amygdala6197.45
Appendix41.85
AtrioventricularNode10.1
BDCA4+_DentriticCells19.7
Bonemarrow8.3
BronchialEpithelialCells330.85
CD105+_Endothelial35.4
CD14+_Monocytes6.95
CD19+_BCells(neg._sel.)6.9
CD33+_Myeloid33.1
CD34+45.2
CD4+_Tcells6.55
CD56+_NKCells7.3
CD71+_EarlyErythroid6.7
CD8+_Tcells5.5
CardiacMyocytes42.3
Caudatenucleus864.1
Cerebellum1130.55
CerebellumPeduncles1239.3
CiliaryGanglion72.85
CingulateCortex2676
Colorectaladenocarcinoma33.15
DorsalRootGanglion116.15
FetalThyroid1037.05
Fetalbrain1262.25
Fetalliver209.1
Fetallung375.8
GlobusPallidus1193.7
Heart378.55
Hypothalamus3407.15
Kidney5204.3
Leukemia_chronicMyelogenousK-5625.8
Leukemia_promyelocytic-HL-606.5
Leukemialymphoblastic(MOLT-4)5.35
Liver387.7
Lung952.1
Lymphnode30.9
Lymphoma_burkitts(Daudi)10.25
Lymphoma_burkitts(Raji)55.65
MedullaOblongata2286.55
OccipitalLobe2389.5
OlfactoryBulb126.55
Ovary22.15
Pancreas732.9
PancreaticIslet1099.95
ParietalLobe1979.7
Pituitary1244.15
Placenta48.6
Pons998.75
PrefrontalCortex6881.3
Prostate862.35
Salivarygland159.25
SkeletalMuscle460.9
Skin86.3
SmoothMuscle18.9
Spinalcord1201.15
SubthalamicNucleus2469.95
SuperiorCervicalGanglion39.45
TemporalLobe2044.75
Testis208.3
TestisGermCell205.05
TestisIntersitial39.95
TestisLeydigCell13.65
TestisSeminiferousTubule43.25
Thalamus1524.9
Thymus102.7
Thyroid3356.55
Tongue542.95
Tonsil154.9
Trachea651.3
TrigeminalGanglion22.95
Uterus1036.85
UterusCorpus7.9
WholeBlood8.2
Wholebrain4112.4
colon3036.75
pineal_day398.16
pineal_night319.84
retina743.3
small_intestine2771.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P4647
  • 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
Amygdala4.38 ± 0.55
Basal Forebrain4.36 ± 0.25
Basal Part of Pons5.52 ± 0.28
Cerebellar Cortex4.54 ± 0.42
Cerebellar Nuclei5.34 ± 0.49
Claustrum4.35 ± 0.74
Epithalamus3.9 ± 0.52
Frontal Lobe4.95 ± 0.58
Globus Pallidus5.17 ± 0.5
Hypothalamus4.3 ± 0.52
Insula4.77 ± 0.42
Limbic Lobe4.99 ± 0.54
Mesencephalon4.68 ± 0.67
Myelencephalon4.73 ± 0.65
Occipital Lobe5.16 ± 0.51
Parietal Lobe4.91 ± 0.47
Pontine Tegmentum4.76 ± 0.44
Striatum4.23 ± 0.58
Subthalamus5.05 ± 0.79
Temporal Lobe4.68 ± 0.49
Thalamus4.95 ± 0.55
White Matter5.23 ± 0.93
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp1b1CBCerebellum100
100
Atp1b1CTXCerebral cortex100
100
Atp1b1HIPHippocampal region100
100
Atp1b1HPFHippocampal formation100
100
Atp1b1HYHypothalamus100
100
Atp1b1LSXLateral septal complex100
100
Atp1b1MBMidbrain100
100
Atp1b1MYMedulla100
100
Atp1b1OLFOlfactory bulb100
100
Atp1b1PPons100
100
Atp1b1PALPallidum100
100
Atp1b1RHPRetrohippocampal region100
100
Atp1b1sAMYStriatum-like amygdalar nuclei100
100
Atp1b1STRStriatum100
100
Atp1b1STRdStriatum dorsal region100
100
Atp1b1STRvStriatum ventral region100
100
Atp1b1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AT1B1_HUMAN_97 11 97 107 SYEAYVLNIVR PRIDE
PAp00008951 23 112 134 YKDSAQRDDMIFEDCGDVPSEPK 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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