AutismKB 2.0

Annotation Detail for ATP6V1A


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Basic Information Top
Gene Symbol:ATP6V1A ( ATP6A1,ATP6V1A1,HO68,VA68,VPP2,Vma1 )
Gene Full Name: ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A
Band: 3q13.31
Quick LinksEntrez ID:523; OMIM: 607027; Uniprot ID:VATA_HUMAN; ENSEMBL ID: ENSG00000114573; HGNC ID: 851
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
blastocyst6 / 6231996
fetus55 / 56401297
neonate2 / 3109764
infant0 / 236200 
juvenile8 / 55556143
adult148 / 193912176
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) tumor20 / 94178212
cervical tumor0 / 343660 
chondrosarcoma9 / 82823108
colorectal tumor2 / 11424617
esophageal tumor1 / 1729057
gastrointestinal tumor7 / 11936958
germ cell tumor26 / 26384598
glioma10 / 10688393
head and neck tumor18 / 136302132
kidney tumor8 / 68959116
leukemia5 / 9584252
liver tumor5 / 9635951
lung tumor3 / 10312729
lymphoma3 / 7175541
non-neoplasia9 / 9725092
normal311 / 336030792
ovarian tumor2 / 7668226
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer13 / 102680126
retinoblastoma2 / 4635643
skin tumor15 / 124949120
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor10 / 90257110
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland2 / 3319760
ascites1 / 4001524
bladder4 / 29757134
blood5 / 12347840
bone11 / 71655153
bone marrow5 / 48801102
brain146 / 1100989132
cervix0 / 481710 
connective tissue12 / 14925580
ear6 / 16212370
embryonic tissue16 / 21572274
esophagus1 / 2020949
eye11 / 21105452
heart4 / 8962644
intestine8 / 23447234
kidney23 / 211777108
larynx0 / 241450 
liver10 / 20774348
lung23 / 33697468
lymph1 / 4427022
lymph node8 / 9161087
mammary gland28 / 153271182
mouth13 / 67052193
muscle5 / 10771546
nerve2 / 15768126
ovary2 / 10205119
pancreas14 / 21481265
parathyroid1 / 2053948
pharynx2 / 4132848
pituitary gland1 / 1658560
placenta25 / 28082589
prostate16 / 18934584
salivary gland0 / 201550 
skin31 / 210574147
spleen0 / 539520 
stomach3 / 9661931
testis27 / 33044281
thymus4 / 8113149
thyroid6 / 47473126
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord2 / 13680146
uterus19 / 23287881
vascular9 / 51780173
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201971_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts145.65
Adipocyte31.45
AdrenalCortex14.1
Adrenalgland13.4
Amygdala205.65
Appendix17.15
AtrioventricularNode13.55
BDCA4+_DentriticCells142
Bonemarrow22.55
BronchialEpithelialCells12.9
CD105+_Endothelial38.55
CD14+_Monocytes56.2
CD19+_BCells(neg._sel.)17.65
CD33+_Myeloid238.05
CD34+45.2
CD4+_Tcells18.15
CD56+_NKCells31.3
CD71+_EarlyErythroid71.6
CD8+_Tcells14.6
CardiacMyocytes25.6
Caudatenucleus15.85
Cerebellum18.45
CerebellumPeduncles104.25
CiliaryGanglion19.3
CingulateCortex31.9
Colorectaladenocarcinoma38.65
DorsalRootGanglion12.55
FetalThyroid11.8
Fetalbrain29.45
Fetalliver33.4
Fetallung16
GlobusPallidus45.85
Heart22.3
Hypothalamus85.85
Kidney85.3
Leukemia_chronicMyelogenousK-56213.65
Leukemia_promyelocytic-HL-6044.85
Leukemialymphoblastic(MOLT-4)14.6
Liver21.25
Lung13.7
Lymphnode13.1
Lymphoma_burkitts(Daudi)20.4
Lymphoma_burkitts(Raji)17.75
MedullaOblongata15.35
OccipitalLobe70.5
OlfactoryBulb10.8
Ovary7.3
Pancreas12.9
PancreaticIslet46.15
ParietalLobe38
Pituitary29.25
Placenta14.9
Pons17.15
PrefrontalCortex49.65
Prostate18
Salivarygland12.65
SkeletalMuscle20.8
Skin13.3
SmoothMuscle34.3
Spinalcord18.25
SubthalamicNucleus58.1
SuperiorCervicalGanglion17.5
TemporalLobe15.9
Testis20.4
TestisGermCell16.6
TestisIntersitial24
TestisLeydigCell22.6
TestisSeminiferousTubule14.65
Thalamus39.8
Thymus21.55
Thyroid17.25
Tongue9.1
Tonsil14.85
Trachea15.75
TrigeminalGanglion14.85
Uterus9.25
UterusCorpus15.75
WholeBlood35
Wholebrain28.4
colon17
pineal_day354.82
pineal_night470.44
retina26.5
small_intestine13.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P396994
  • 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
Amygdala11 ± 0.61
Basal Forebrain11.06 ± 0.13
Basal Part of Pons11.72 ± 0.47
Cerebellar Cortex11.49 ± 0.14
Cerebellar Nuclei11.38 ± 0.34
Claustrum11.26 ± 0.46
Epithalamus10.83 ± 0.57
Frontal Lobe11.65 ± 0.3
Globus Pallidus10.33 ± 0.42
Hypothalamus11.75 ± 0.36
Insula11.63 ± 0.29
Limbic Lobe11.33 ± 0.54
Mesencephalon11.2 ± 0.46
Myelencephalon11.31 ± 0.62
Occipital Lobe10.68 ± 0.69
Parietal Lobe11.46 ± 0.48
Pontine Tegmentum11.3 ± 0.45
Striatum10.48 ± 0.56
Subthalamus11.98 ± 0.41
Temporal Lobe11.53 ± 0.36
Thalamus11.33 ± 0.31
White Matter9.89 ± 0.48
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp6v1aCBCerebellum36.53
61.59
Atp6v1aCTXCerebral cortex100
100
Atp6v1aHIPHippocampal region100
100
Atp6v1aHPFHippocampal formation100
100
Atp6v1aHYHypothalamus100
100
Atp6v1aLSXLateral septal complex82.39
80.49
Atp6v1aMBMidbrain80.17
100
Atp6v1aMYMedulla92.05
100
Atp6v1aOLFOlfactory bulb100
100
Atp6v1aPPons83.17
100
Atp6v1aPALPallidum86.43
100
Atp6v1aRHPRetrohippocampal region100
100
Atp6v1asAMYStriatum-like amygdalar nuclei100
100
Atp6v1aSTRStriatum45.51
46.2
Atp6v1aSTRdStriatum dorsal region23.53
25.17
Atp6v1aSTRvStriatum ventral region69.65
61.03
Atp6v1aTHThalamus87.76
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001743 15 339 353 DMGYHVSMMADSTSR Peptide Atlas
VATA_HUMAN_0 0 0 0 AKEILQEEEDLAEIVQLVGK PRIDE
VATA_HUMAN_0 0 0 0 ALDEYYDKHFTEFVPLR PRIDE
VATA_HUMAN_142 21 142 162 VGSHITGGDIYGIVSENSLIK PRIDE
VATA_HUMAN_202 10 202 211 FTMVQVWPVR PRIDE
VATA_HUMAN_213 20 213 232 QVRPVTEKLPANHPLLTGQR PRIDE
VATA_HUMAN_281 9 281 289 GNEMSEVLR PRIDE
VATA_HUMAN_308 15 308 322 TALVANTSNMPVAAR PRIDE
VATA_HUMAN_309 15 309 323 TALVANTSNMPVAAR PRIDE
VATA_HUMAN_364 17 364 380 LAEMPADSGYPAYLGAR PRIDE
VATA_HUMAN_365 17 365 381 LAEMPADSGYPAYLGAR PRIDE
VATA_HUMAN_459 17 459 475 ALDEYYDKHFTEFVPLR PRIDE
VATA_HUMAN_480 18 480 497 EILQEEEDLAEIVQLVGK PRIDE
VATA_HUMAN_536 16 536 551 TVGMLSNMIAFYDMAR PRIDE
VATA_HUMAN_596 17 596 612 IKSDYAQLLEDMQNAFR PRIDE
VATA_HUMAN_599 15 599 613 SDYAQLLEDMQNAFR 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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