AutismKB 2.0

Annotation Detail for ATP6V0A1


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Basic Information Top
Gene Symbol:ATP6V0A1 ( ATP6N1,ATP6N1A,DKFZp781J1951,Stv1,VPP1,Vph1,a1 )
Gene Full Name: ATPase, H+ transporting, lysosomal V0 subunit a1
Band: 17q21.2
Quick LinksEntrez ID:535; OMIM: 192130; Uniprot ID:VPP1_HUMAN; ENSEMBL ID: ENSG00000033627; HGNC ID: 865
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 body5 / 7076170
blastocyst3 / 6231948
fetus90 / 564012159
neonate2 / 3109764
infant2 / 2362084
juvenile17 / 55556305
adult235 / 1939121121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor10 / 11424687
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor41 / 263845155
glioma19 / 106883177
head and neck tumor15 / 136302110
kidney tumor13 / 68959188
leukemia15 / 95842156
liver tumor4 / 9635941
lung tumor10 / 10312796
lymphoma1 / 7175513
non-neoplasia21 / 97250215
normal996 / 3360307296
ovarian tumor4 / 7668252
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS14 / 125680111
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland2 / 3319760
ascites2 / 4001549
bladder0 / 297570 
blood13 / 123478105
bone2 / 7165527
bone marrow0 / 488010 
brain828 / 1100989752
cervix0 / 481710 
connective tissue19 / 149255127
ear1 / 1621261
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye23 / 211054108
heart2 / 8962622
intestine25 / 234472106
kidney32 / 211777151
larynx2 / 2414582
liver9 / 20774343
lung19 / 33697456
lymph1 / 4427022
lymph node5 / 9161054
mammary gland10 / 15327165
mouth10 / 67052149
muscle5 / 10771546
nerve11 / 15768697
ovary5 / 10205148
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland4 / 16585241
placenta37 / 280825131
prostate13 / 18934568
salivary gland0 / 201550 
skin9 / 21057442
spleen11 / 53952203
stomach2 / 9661920
testis73 / 330442220
thymus19 / 81131234
thyroid4 / 4747384
tonsil0 / 169990 
trachea11 / 52413209
umbilical cord1 / 1368073
uterus27 / 232878115
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205095_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts4.85
Adipocyte3.7
AdrenalCortex3.8
Adrenalgland3.1
Amygdala7
Appendix3.75
AtrioventricularNode3.55
BDCA4+_DentriticCells4.25
Bonemarrow3.85
BronchialEpithelialCells3.65
CD105+_Endothelial3.7
CD14+_Monocytes4.25
CD19+_BCells(neg._sel.)4
CD33+_Myeloid4.85
CD34+4.75
CD4+_Tcells4.05
CD56+_NKCells4.25
CD71+_EarlyErythroid3.45
CD8+_Tcells3.6
CardiacMyocytes4.55
Caudatenucleus3.35
Cerebellum32.2
CerebellumPeduncles10.65
CiliaryGanglion2.8
CingulateCortex3.8
Colorectaladenocarcinoma3.75
DorsalRootGanglion2.8
FetalThyroid3.6
Fetalbrain3.75
Fetalliver3.15
Fetallung3.1
GlobusPallidus5.1
Heart4.6
Hypothalamus4.1
Kidney3.1
Leukemia_chronicMyelogenousK-5624.1
Leukemia_promyelocytic-HL-603.1
Leukemialymphoblastic(MOLT-4)2.85
Liver4.75
Lung4.1
Lymphnode3.25
Lymphoma_burkitts(Daudi)4.7
Lymphoma_burkitts(Raji)5.1
MedullaOblongata3.85
OccipitalLobe6.75
OlfactoryBulb3.6
Ovary2.45
Pancreas3.2
PancreaticIslet4
ParietalLobe8.5
Pituitary4.4
Placenta3.9
Pons6
PrefrontalCortex12.7
Prostate4.4
Salivarygland3
SkeletalMuscle4.15
Skin2.8
SmoothMuscle4.2
Spinalcord4.05
SubthalamicNucleus4.9
SuperiorCervicalGanglion4.2
TemporalLobe3.65
Testis3.2
TestisGermCell3.1
TestisIntersitial3.1
TestisLeydigCell3.65
TestisSeminiferousTubule3.2
Thalamus3.75
Thymus3
Thyroid4.7
Tongue3.55
Tonsil3.65
Trachea3.1
TrigeminalGanglion3.7
Uterus3.1
UterusCorpus3.3
WholeBlood3.9
Wholebrain18.85
colon3.75
pineal_day12.36
pineal_night21.1
retina4.575
small_intestine3.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_6023_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
Amygdala7.81 ± 0.29
Basal Forebrain7.57 ± 0.27
Basal Part of Pons7.75 ± 0.36
Cerebellar Cortex7.6 ± 0.09
Cerebellar Nuclei7.4 ± 0.32
Claustrum8.1 ± 0.31
Epithalamus7 ± 0.45
Frontal Lobe7.58 ± 0.43
Globus Pallidus7.53 ± 0.15
Hypothalamus7.49 ± 0.43
Insula7.64 ± 0.46
Limbic Lobe7.78 ± 0.45
Mesencephalon7.63 ± 0.5
Myelencephalon7.57 ± 0.4
Occipital Lobe7.72 ± 0.35
Parietal Lobe7.71 ± 0.46
Pontine Tegmentum7.52 ± 0.47
Striatum7.36 ± 0.78
Subthalamus7.86 ± 0.04
Temporal Lobe7.59 ± 0.39
Thalamus7.6 ± 0.34
White Matter7.93 ± 0.59
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp6v0a1CBCerebellum41.41
49.41
Atp6v0a1CTXCerebral cortex61.81
61.74
Atp6v0a1HIPHippocampal region71.07
89.07
Atp6v0a1HPFHippocampal formation70.1
77.2
Atp6v0a1HYHypothalamus41.97
40.24
Atp6v0a1LSXLateral septal complex43.31
37.23
Atp6v0a1MBMidbrain46
52.44
Atp6v0a1MYMedulla58.22
72.12
Atp6v0a1OLFOlfactory bulb70.5
70.13
Atp6v0a1PPons60.72
70.45
Atp6v0a1PALPallidum41.29
48.03
Atp6v0a1RHPRetrohippocampal region59.02
58.6
Atp6v0a1sAMYStriatum-like amygdalar nuclei55.05
54.77
Atp6v0a1STRStriatum45.72
39.38
Atp6v0a1STRdStriatum dorsal region40.31
34.16
Atp6v0a1STRvStriatum ventral region56.55
46.37
Atp6v0a1THThalamus49.14
53.05
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000460 16 309 324 AIYHTLNLCNIDVTQK Peptide Atlas
VPP1_HUMAN_74 19 74 92 KANIPIMDTGENPEVPFPR PRIDE
VPP1_HUMAN_75 18 75 92 ANIPIMDTGENPEVPFPR 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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