AutismKB 2.0

Annotation Detail for ATP8B2


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Basic Information Top
Gene Symbol:ATP8B2 ( ATPID,DKFZp434M0219,KIAA1137 )
Gene Full Name: ATPase, class I, type 8B, member 2
Band: 1q21.3
Quick LinksEntrez ID:57198; OMIM: 605867; Uniprot ID:AT8B2_HUMAN; ENSEMBL ID: ENSG00000143515; HGNC ID: 13534
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 body2 / 7076128
blastocyst5 / 6231980
fetus6 / 56401210
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult30 / 193912115
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia3 / 9725030
normal56 / 336030716
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood4 / 12347832
bone6 / 7165583
bone marrow0 / 488010 
brain17 / 110098915
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye3 / 21105414
heart0 / 896260 
intestine0 / 2344720 
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung3 / 3369748
lymph0 / 442700 
lymph node1 / 9161010
mammary gland3 / 15327119
mouth0 / 670520 
muscle5 / 10771546
nerve0 / 157680 
ovary1 / 1020519
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta2 / 2808257
prostate2 / 18934510
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 216873_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10
Adipocyte8.55
AdrenalCortex10.4
Adrenalgland7.4
Amygdala8.05
Appendix9.75
AtrioventricularNode9.15
BDCA4+_DentriticCells9.3
Bonemarrow8.45
BronchialEpithelialCells8.35
CD105+_Endothelial8.75
CD14+_Monocytes9.15
CD19+_BCells(neg._sel.)11.15
CD33+_Myeloid9.85
CD34+23.35
CD4+_Tcells55.05
CD56+_NKCells15.15
CD71+_EarlyErythroid7.9
CD8+_Tcells34
CardiacMyocytes11.15
Caudatenucleus7.8
Cerebellum7.05
CerebellumPeduncles10
CiliaryGanglion8.3
CingulateCortex8.95
Colorectaladenocarcinoma8.4
DorsalRootGanglion8.4
FetalThyroid8.7
Fetalbrain8.6
Fetalliver7.4
Fetallung7.1
GlobusPallidus6.55
Heart12.45
Hypothalamus9.4
Kidney7.45
Leukemia_chronicMyelogenousK-5627.85
Leukemia_promyelocytic-HL-607.4
Leukemialymphoblastic(MOLT-4)6.9
Liver11.75
Lung9.65
Lymphnode7.4
Lymphoma_burkitts(Daudi)11.5
Lymphoma_burkitts(Raji)12.3
MedullaOblongata7.45
OccipitalLobe7.75
OlfactoryBulb6.85
Ovary6.8
Pancreas6.9
PancreaticIslet9.2
ParietalLobe9
Pituitary10.1
Placenta8.85
Pons8.25
PrefrontalCortex10.15
Prostate10.15
Salivarygland7
SkeletalMuscle12.45
Skin7.25
SmoothMuscle10.75
Spinalcord9.2
SubthalamicNucleus7.95
SuperiorCervicalGanglion11.75
TemporalLobe7.95
Testis7.45
TestisGermCell7.2
TestisIntersitial7.25
TestisLeydigCell8.55
TestisSeminiferousTubule7.75
Thalamus8.8
Thymus6.85
Thyroid10
Tongue8.95
Tonsil8.4
Trachea7.25
TrigeminalGanglion9.95
Uterus7.6
UterusCorpus9.95
WholeBlood9.2
Wholebrain6.6
colon8.7
pineal_day20.04
pineal_night13.1
retina10.675
small_intestine8.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P185229
  • 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
Amygdala8.09 ± 0.34
Basal Forebrain7.88 ± 0.14
Basal Part of Pons8.32 ± 0.32
Cerebellar Cortex8.5 ± 0.24
Cerebellar Nuclei7.87 ± 0.52
Claustrum7.91 ± 0.41
Epithalamus7.86 ± 0.44
Frontal Lobe7.92 ± 0.34
Globus Pallidus7.29 ± 0.24
Hypothalamus7.67 ± 0.34
Insula8.05 ± 0.32
Limbic Lobe8.28 ± 0.51
Mesencephalon7.8 ± 0.41
Myelencephalon8.01 ± 0.38
Occipital Lobe8.64 ± 0.5
Parietal Lobe8.13 ± 0.31
Pontine Tegmentum7.93 ± 0.4
Striatum7.99 ± 0.37
Subthalamus7.82 ± 0.33
Temporal Lobe8.04 ± 0.32
Thalamus7.99 ± 0.29
White Matter6.53 ± 0.27
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp8b2CBCerebellum46.77
63.18
Atp8b2CTXCerebral cortex100
100
Atp8b2HIPHippocampal region59.02
100
Atp8b2HPFHippocampal formation82.37
100
Atp8b2HYHypothalamus98.11
85.91
Atp8b2LSXLateral septal complex100
100
Atp8b2MBMidbrain95.91
97.18
Atp8b2MYMedulla79.83
100
Atp8b2OLFOlfactory bulb100
100
Atp8b2PPons88.28
100
Atp8b2PALPallidum97.7
95.79
Atp8b2RHPRetrohippocampal region100
100
Atp8b2sAMYStriatum-like amygdalar nuclei100
100
Atp8b2STRStriatum100
100
Atp8b2STRdStriatum dorsal region100
100
Atp8b2STRvStriatum ventral region100
90.88
Atp8b2THThalamus100
100
Peptide Top

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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