AutismKB 2.0

Annotation Detail for ATP6V0E2


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Basic Information Top
Gene Symbol:ATP6V0E2 ( ATP6V0E2L,C7orf32 )
Gene Full Name: ATPase, H+ transporting V0 subunit e2
Band: 7q36.1
Quick LinksEntrez ID:155066; OMIM: 611019; Uniprot ID:VA0E2_HUMAN; ENSEMBL ID: ENSG00000171130; HGNC ID: 21723
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 
fetus47 / 56401283
neonate0 / 310970 
infant3 / 23620127
juvenile14 / 55556251
adult192 / 193912199
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor6 / 9417863
cervical tumor3 / 3436687
chondrosarcoma0 / 828230 
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor29 / 263845109
glioma25 / 106883233
head and neck tumor1 / 1363027
kidney tumor3 / 6895943
leukemia7 / 9584273
liver tumor3 / 9635931
lung tumor2 / 10312719
lymphoma5 / 7175569
non-neoplasia66 / 97250678
normal487 / 3360307144
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS39 / 125680310
prostate cancer4 / 10268038
retinoblastoma6 / 46356129
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites2 / 4001549
bladder2 / 2975767
blood16 / 123478129
bone0 / 716550 
bone marrow0 / 488010 
brain561 / 1100989509
cervix3 / 4817162
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue2 / 2157229
esophagus0 / 202090 
eye13 / 21105461
heart14 / 89626156
intestine12 / 23447251
kidney6 / 21177728
larynx0 / 241450 
liver5 / 20774324
lung9 / 33697426
lymph0 / 442700 
lymph node1 / 9161010
mammary gland7 / 15327145
mouth0 / 670520 
muscle5 / 10771546
nerve3 / 15768190
ovary5 / 10205148
pancreas8 / 21481237
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland2 / 16585120
placenta10 / 28082535
prostate7 / 18934536
salivary gland0 / 201550 
skin3 / 21057414
spleen1 / 5395218
stomach7 / 9661972
testis14 / 33044242
thymus5 / 8113161
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus10 / 23287842
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213587_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts27.9
Adipocyte5.85
AdrenalCortex15.1
Adrenalgland43.15
Amygdala1234.4
Appendix9.1
AtrioventricularNode5.8
BDCA4+_DentriticCells26.85
Bonemarrow8.05
BronchialEpithelialCells5.75
CD105+_Endothelial19.15
CD14+_Monocytes29.95
CD19+_BCells(neg._sel.)105.4
CD33+_Myeloid21.45
CD34+105.7
CD4+_Tcells392.95
CD56+_NKCells174.9
CD71+_EarlyErythroid6.6
CD8+_Tcells328.85
CardiacMyocytes17
Caudatenucleus480.35
Cerebellum680.25
CerebellumPeduncles993
CiliaryGanglion70
CingulateCortex1058.4
Colorectaladenocarcinoma134.6
DorsalRootGanglion102.3
FetalThyroid158.45
Fetalbrain420.65
Fetalliver5.05
Fetallung4.2
GlobusPallidus325.75
Heart573.7
Hypothalamus1533.15
Kidney138.15
Leukemia_chronicMyelogenousK-5629.8
Leukemia_promyelocytic-HL-603.1
Leukemialymphoblastic(MOLT-4)12.15
Liver304.8
Lung70.95
Lymphnode38.05
Lymphoma_burkitts(Daudi)113.25
Lymphoma_burkitts(Raji)90.65
MedullaOblongata527.55
OccipitalLobe1063.9
OlfactoryBulb196.75
Ovary3.8
Pancreas5.1
PancreaticIslet99.35
ParietalLobe565.3
Pituitary198.75
Placenta5.1
Pons327.15
PrefrontalCortex1807.8
Prostate479.9
Salivarygland27.45
SkeletalMuscle7.85
Skin5.9
SmoothMuscle16.5
Spinalcord552.2
SubthalamicNucleus506.3
SuperiorCervicalGanglion20.5
TemporalLobe528
Testis17.45
TestisGermCell8.05
TestisIntersitial5.65
TestisLeydigCell8
TestisSeminiferousTubule11.6
Thalamus1008.6
Thymus55.35
Thyroid1115.05
Tongue5.9
Tonsil19.7
Trachea41.45
TrigeminalGanglion73.8
Uterus7.5
UterusCorpus8.35
WholeBlood57.75
Wholebrain1412.15
colon43.95
pineal_day3167.48
pineal_night3108.9
retina1141.1
small_intestine22.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4942_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
Amygdala4.87 ± 0.5
Basal Forebrain5.06 ± 0.13
Basal Part of Pons4.98 ± 0.22
Cerebellar Cortex4.84 ± 0.36
Cerebellar Nuclei5.01 ± 0.46
Claustrum5.17 ± 0.5
Epithalamus4.74 ± 0.35
Frontal Lobe4.79 ± 0.38
Globus Pallidus5.14 ± 0.39
Hypothalamus4.72 ± 0.49
Insula4.64 ± 0.41
Limbic Lobe4.77 ± 0.4
Mesencephalon4.84 ± 0.38
Myelencephalon4.84 ± 0.43
Occipital Lobe4.95 ± 0.46
Parietal Lobe4.84 ± 0.41
Pontine Tegmentum4.76 ± 0.45
Striatum4.94 ± 0.44
Subthalamus4.91 ± 0.63
Temporal Lobe4.73 ± 0.45
Thalamus4.83 ± 0.36
White Matter5 ± 0.22
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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