AutismKB 2.0

Annotation Detail for ATP8B1


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Basic Information Top
Gene Symbol:ATP8B1 ( ATPIC,BRIC,FIC1,PFIC,PFIC1 )
Gene Full Name: ATPase, aminophospholipid transporter, class I, type 8B, member 1
Band: 18q21.31
Quick LinksEntrez ID:5205; OMIM: 602397; Uniprot ID:AT8B1_HUMAN; ENSEMBL ID: ENSG00000081923; HGNC ID: 3706
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
blastocyst0 / 623190 
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult67 / 193912134
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma3 / 17475171
breast (mammary gland) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor8 / 11936967
germ cell tumor3 / 26384511
glioma4 / 10688337
head and neck tumor5 / 13630236
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal71 / 336030721
ovarian tumor1 / 7668213
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor8 / 9025788
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder7 / 29757235
blood2 / 12347816
bone1 / 7165513
bone marrow2 / 4880140
brain6 / 11009895
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye9 / 21105442
heart0 / 896260 
intestine17 / 23447272
kidney3 / 21177714
larynx1 / 2414541
liver7 / 20774333
lung12 / 33697435
lymph0 / 442700 
lymph node2 / 9161021
mammary gland7 / 15327145
mouth4 / 6705259
muscle1 / 1077159
nerve0 / 157680 
ovary2 / 10205119
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta7 / 28082524
prostate6 / 18934531
salivary gland1 / 2015549
skin2 / 2105749
spleen3 / 5395255
stomach9 / 9661993
testis1 / 3304423
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214594_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts97.1
Adipocyte36.6
AdrenalCortex369.6
Adrenalgland62.95
Amygdala185.95
Appendix200.25
AtrioventricularNode218.8
BDCA4+_DentriticCells74.45
Bonemarrow92.25
BronchialEpithelialCells38.15
CD105+_Endothelial123.2
CD14+_Monocytes94.2
CD19+_BCells(neg._sel.)53.65
CD33+_Myeloid147.45
CD34+200.5
CD4+_Tcells237.65
CD56+_NKCells109.85
CD71+_EarlyErythroid42
CD8+_Tcells297.2
CardiacMyocytes33.95
Caudatenucleus100.75
Cerebellum61.35
CerebellumPeduncles202.05
CiliaryGanglion140.9
CingulateCortex162.4
Colorectaladenocarcinoma111.4
DorsalRootGanglion132.4
FetalThyroid68.8
Fetalbrain238.15
Fetalliver65.15
Fetallung138.55
GlobusPallidus137.35
Heart37.25
Hypothalamus143
Kidney79.65
Leukemia_chronicMyelogenousK-562116.7
Leukemia_promyelocytic-HL-6095.4
Leukemialymphoblastic(MOLT-4)83.4
Liver21.55
Lung127.1
Lymphnode169.75
Lymphoma_burkitts(Daudi)136.95
Lymphoma_burkitts(Raji)248.05
MedullaOblongata103.1
OccipitalLobe172.9
OlfactoryBulb187.3
Ovary62.05
Pancreas150.3
PancreaticIslet169.45
ParietalLobe306.8
Pituitary178.3
Placenta99.8
Pons212.35
PrefrontalCortex353.55
Prostate558
Salivarygland47.15
SkeletalMuscle67
Skin218.65
SmoothMuscle48.25
Spinalcord99.7
SubthalamicNucleus184
SuperiorCervicalGanglion261.15
TemporalLobe105.4
Testis62
TestisGermCell170.05
TestisIntersitial161.2
TestisLeydigCell95.7
TestisSeminiferousTubule100.95
Thalamus142.35
Thymus108.9
Thyroid262.6
Tongue250.75
Tonsil224
Trachea75.85
TrigeminalGanglion269.55
Uterus255.2
UterusCorpus85.1
WholeBlood48.3
Wholebrain48.35
colon231.05
pineal_day716.82
pineal_night917.88
retina141.225
small_intestine109
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_98_PI416408490
  • 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
Amygdala4.59 ± 0.62
Basal Forebrain3.33 ± 0.33
Basal Part of Pons4.04 ± 0.79
Cerebellar Cortex3.4 ± 0.57
Cerebellar Nuclei4.04 ± 0.62
Claustrum6.31 ± 0.58
Epithalamus3.73 ± 0.9
Frontal Lobe4.19 ± 0.81
Globus Pallidus3.41 ± 1.33
Hypothalamus3.42 ± 0.76
Insula4.25 ± 0.57
Limbic Lobe4.61 ± 1.09
Mesencephalon3.98 ± 0.87
Myelencephalon4.02 ± 0.68
Occipital Lobe5.25 ± 1.03
Parietal Lobe4.57 ± 0.85
Pontine Tegmentum4.35 ± 1.1
Striatum3 ± 1.35
Subthalamus3.75 ± 0.38
Temporal Lobe4.29 ± 0.72
Thalamus3.7 ± 0.78
White Matter3.22 ± 1.28
Mouse Brain ISH
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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