AutismKB 2.0

Annotation Detail for ATP6V0A2


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Basic Information Top
Gene Symbol:ATP6V0A2 ( A2,ARCL,ATP6A2,ATP6N1D,J6B7,RTF,STV1,TJ6,TJ6M,TJ6S,VPH1,WSS )
Gene Full Name: ATPase, H+ transporting, lysosomal V0 subunit a2
Band: 12q24.31
Quick LinksEntrez ID:23545; OMIM: 611716; Uniprot ID:VPP2_HUMAN; ENSEMBL ID: ENSG00000185344; HGNC ID: 18481
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 
blastocyst1 / 6231916
fetus33 / 56401258
neonate1 / 3109732
infant2 / 2362084
juvenile0 / 555560 
adult48 / 193912124
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor9 / 11424678
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma5 / 7175569
non-neoplasia4 / 9725041
normal88 / 336030726
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood3 / 12347824
bone2 / 7165527
bone marrow0 / 488010 
brain11 / 11009899
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye2 / 2110549
heart2 / 8962622
intestine11 / 23447246
kidney6 / 21177728
larynx0 / 241450 
liver1 / 2077434
lung8 / 33697423
lymph2 / 4427045
lymph node12 / 91610130
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve0 / 157680 
ovary3 / 10205129
pancreas5 / 21481223
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta9 / 28082532
prostate7 / 18934536
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach1 / 9661910
testis6 / 33044218
thymus0 / 811310 
thyroid2 / 4747342
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205704_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.2
Adipocyte5.4
AdrenalCortex5.6
Adrenalgland4.55
Amygdala5.75
Appendix6
AtrioventricularNode4.25
BDCA4+_DentriticCells6.75
Bonemarrow5.7
BronchialEpithelialCells5.3
CD105+_Endothelial6.6
CD14+_Monocytes6.6
CD19+_BCells(neg._sel.)6.05
CD33+_Myeloid7.05
CD34+81.6
CD4+_Tcells6.5
CD56+_NKCells9.05
CD71+_EarlyErythroid5.2
CD8+_Tcells5.7
CardiacMyocytes7
Caudatenucleus4.9
Cerebellum4.4
CerebellumPeduncles6.15
CiliaryGanglion3.75
CingulateCortex5.5
Colorectaladenocarcinoma5.5
DorsalRootGanglion4.1
FetalThyroid5.3
Fetalbrain5.3
Fetalliver4.8
Fetallung4.5
GlobusPallidus3.9
Heart6.9
Hypothalamus5.9
Kidney4.3
Leukemia_chronicMyelogenousK-5629.8
Leukemia_promyelocytic-HL-604.75
Leukemialymphoblastic(MOLT-4)4.55
Liver7.1
Lung6.1
Lymphnode4.7
Lymphoma_burkitts(Daudi)6.9
Lymphoma_burkitts(Raji)7.95
MedullaOblongata5
OccipitalLobe4.8
OlfactoryBulb4.25
Ovary3.65
Pancreas4.35
PancreaticIslet5.8
ParietalLobe5.7
Pituitary6.35
Placenta5.55
Pons5.15
PrefrontalCortex6.55
Prostate6.4
Salivarygland4.3
SkeletalMuscle6.5
Skin4.3
SmoothMuscle6
Spinalcord5.7
SubthalamicNucleus4.9
SuperiorCervicalGanglion6.75
TemporalLobe5
Testis4.8
TestisGermCell5.75
TestisIntersitial4.55
TestisLeydigCell5.35
TestisSeminiferousTubule4.65
Thalamus5.5
Thymus4.85
Thyroid6.85
Tongue5.25
Tonsil5.35
Trachea4.55
TrigeminalGanglion5.75
Uterus4.4
UterusCorpus4.8
WholeBlood6
Wholebrain4.5
colon5.5
pineal_day6.56
pineal_night6.7
retina6.625
small_intestine5.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6369_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
Amygdala5.22 ± 0.67
Basal Forebrain5.11 ± 0.37
Basal Part of Pons4.6 ± 0.44
Cerebellar Cortex5.18 ± 0.38
Cerebellar Nuclei4.91 ± 0.68
Claustrum5.23 ± 0.81
Epithalamus5.04 ± 0.34
Frontal Lobe4.82 ± 0.47
Globus Pallidus5.35 ± 0.53
Hypothalamus4.63 ± 0.52
Insula4.71 ± 0.45
Limbic Lobe5.03 ± 0.59
Mesencephalon5.02 ± 0.5
Myelencephalon4.95 ± 0.54
Occipital Lobe5.36 ± 0.53
Parietal Lobe5.02 ± 0.53
Pontine Tegmentum5.05 ± 0.54
Striatum5.2 ± 0.56
Subthalamus4.65 ± 0.38
Temporal Lobe4.68 ± 0.53
Thalamus4.87 ± 0.48
White Matter6.15 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp6v0a2CBCerebellum26.26
58.16
Atp6v0a2CTXCerebral cortex90.58
75.2
Atp6v0a2HIPHippocampal region48.4
63.14
Atp6v0a2HPFHippocampal formation61.17
65.27
Atp6v0a2HYHypothalamus27.94
24.86
Atp6v0a2LSXLateral septal complex64.02
54.71
Atp6v0a2MBMidbrain45.94
45.02
Atp6v0a2MYMedulla53.59
67.02
Atp6v0a2OLFOlfactory bulb81.42
73.06
Atp6v0a2PPons41.97
46.81
Atp6v0a2PALPallidum39.16
37.16
Atp6v0a2RHPRetrohippocampal region73.14
64.41
Atp6v0a2sAMYStriatum-like amygdalar nuclei34.37
29.74
Atp6v0a2STRStriatum67.41
53.95
Atp6v0a2STRdStriatum dorsal region66.6
51.48
Atp6v0a2STRvStriatum ventral region84.63
68.43
Atp6v0a2THThalamus44.95
41.65
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00030083 16 511 526 HNSILQLDPSIPGVFR Peptide Atlas
VPP2_HUMAN_0 0 0 0 SVNLFGSGWNVSAMYSSSHPPAEHKK PRIDE

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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