AutismKB 2.0

Annotation Detail for ATP8B4


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Basic Information Top
Gene Symbol:ATP8B4 ( ATPIM,FLJ25418 )
Gene Full Name: ATPase, class I, type 8B, member 4
Band: 15q21.2
Quick LinksEntrez ID:79895; OMIM: 609123; Uniprot ID:AT8B4_HUMAN; ENSEMBL ID: ENSG00000104043; HGNC ID: 13536
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 body0 / 707610 
blastocyst0 / 623190 
fetus2 / 5640123
neonate1 / 3109732
infant0 / 236200 
juvenile0 / 555560 
adult38 / 193912119
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) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma0 / 1068830 
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia17 / 95842177
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia2 / 9725020
normal38 / 336030711
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
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 
blood20 / 123478161
bone0 / 716550 
bone marrow2 / 4880140
brain13 / 110098911
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine0 / 2344720 
kidney3 / 21177714
larynx0 / 241450 
liver3 / 20774314
lung0 / 3369740 
lymph0 / 442700 
lymph node1 / 9161010
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta9 / 28082532
prostate7 / 18934536
salivary gland0 / 201550 
skin0 / 2105740 
spleen1 / 5395218
stomach1 / 9661910
testis0 / 3304420 
thymus1 / 8113112
thyroid0 / 474730 
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus8 / 23287834
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 220416_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.1
Adipocyte6.1
AdrenalCortex6.9
Adrenalgland5.35
Amygdala6.45
Appendix7.15
AtrioventricularNode5.75
BDCA4+_DentriticCells6.55
Bonemarrow6.95
BronchialEpithelialCells5.95
CD105+_Endothelial6.25
CD14+_Monocytes7.2
CD19+_BCells(neg._sel.)6.5
CD33+_Myeloid22.5
CD34+40.55
CD4+_Tcells6.55
CD56+_NKCells10.65
CD71+_EarlyErythroid5.9
CD8+_Tcells5.9
CardiacMyocytes8.7
Caudatenucleus5.6
Cerebellum5.1
CerebellumPeduncles7.25
CiliaryGanglion4.85
CingulateCortex6.45
Colorectaladenocarcinoma6.3
DorsalRootGanglion5.35
FetalThyroid6.1
Fetalbrain6.05
Fetalliver5.55
Fetallung5
GlobusPallidus4.8
Heart8.55
Hypothalamus6.6
Kidney5.3
Leukemia_chronicMyelogenousK-5625.6
Leukemia_promyelocytic-HL-605.5
Leukemialymphoblastic(MOLT-4)4.9
Liver8.9
Lung6.75
Lymphnode5.2
Lymphoma_burkitts(Daudi)8.1
Lymphoma_burkitts(Raji)9.15
MedullaOblongata5.8
OccipitalLobe5.6
OlfactoryBulb4.9
Ovary4.6
Pancreas5.1
PancreaticIslet6.65
ParietalLobe6.8
Pituitary7.3
Placenta6.2
Pons5.95
PrefrontalCortex7.7
Prostate7.2
Salivarygland5.25
SkeletalMuscle7.75
Skin5.45
SmoothMuscle7.05
Spinalcord6.65
SubthalamicNucleus5.8
SuperiorCervicalGanglion8.65
TemporalLobe5.8
Testis5.3
TestisGermCell5
TestisIntersitial5.2
TestisLeydigCell6.25
TestisSeminiferousTubule5.3
Thalamus6.4
Thymus4.8
Thyroid7.7
Tongue6.9
Tonsil6.1
Trachea5.2
TrigeminalGanglion7.6
Uterus5.1
UterusCorpus7.55
WholeBlood6.8
Wholebrain5.1
colon6.25
pineal_day7.7
pineal_night7.52
retina7.525
small_intestine6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13703_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
Amygdala2.84 ± 0.81
Basal Forebrain2.74 ± 0.49
Basal Part of Pons2.12 ± 0.32
Cerebellar Cortex2.48 ± 0.85
Cerebellar Nuclei2.69 ± 0.58
Claustrum3.01 ± 0.77
Epithalamus2.44 ± 0.61
Frontal Lobe2.3 ± 0.7
Globus Pallidus3.19 ± 0.65
Hypothalamus2.3 ± 0.65
Insula2.44 ± 0.82
Limbic Lobe2.75 ± 0.75
Mesencephalon2.64 ± 0.74
Myelencephalon2.5 ± 0.6
Occipital Lobe2.5 ± 0.58
Parietal Lobe2.6 ± 0.87
Pontine Tegmentum2.53 ± 0.68
Striatum2.44 ± 0.57
Subthalamus2.56 ± 0.69
Temporal Lobe2.47 ± 0.71
Thalamus2.31 ± 0.65
White Matter3.44 ± 0.72
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