AutismKB 2.0

Annotation Detail for ATP6V0D1


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Basic Information Top
Gene Symbol:ATP6V0D1 ( ATP6D,ATP6DV,FLJ43534,P39,VATX,VMA6,VPATPD )
Gene Full Name: ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1
Band: 16q22.1
Quick LinksEntrez ID:9114; OMIM: 607028; Uniprot ID:VA0D1_HUMAN; ENSEMBL ID: ENSG00000159720; HGNC ID: 13724
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
fetus48 / 56401285
neonate8 / 31097257
infant8 / 23620338
juvenile11 / 55556197
adult285 / 1939121146
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) tumor16 / 94178169
cervical tumor4 / 34366116
chondrosarcoma11 / 82823132
colorectal tumor15 / 114246131
esophageal tumor1 / 1729057
gastrointestinal tumor15 / 119369125
germ cell tumor12 / 26384545
glioma13 / 106883121
head and neck tumor34 / 136302249
kidney tumor6 / 6895987
leukemia12 / 95842125
liver tumor6 / 9635962
lung tumor15 / 103127145
lymphoma4 / 7175555
non-neoplasia12 / 97250123
normal390 / 3360307116
ovarian tumor8 / 76682104
pancreatic tumor17 / 104616162
primitive neuroectodermal tumor of the CNS23 / 125680183
prostate cancer14 / 102680136
retinoblastoma3 / 4635664
skin tumor21 / 124949168
soft tissue/muscle tissue tumor12 / 12519195
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland10 / 33197301
ascites7 / 40015174
bladder0 / 297570 
blood14 / 123478113
bone7 / 7165597
bone marrow1 / 4880120
brain238 / 1100989216
cervix8 / 48171166
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus2 / 2020998
eye21 / 21105499
heart13 / 89626145
intestine38 / 234472162
kidney20 / 21177794
larynx9 / 24145372
liver16 / 20774377
lung43 / 336974127
lymph3 / 4427067
lymph node4 / 9161043
mammary gland19 / 153271123
mouth1 / 6705214
muscle9 / 10771583
nerve2 / 15768126
ovary9 / 10205188
pancreas26 / 214812121
parathyroid4 / 20539194
pharynx14 / 41328338
pituitary gland4 / 16585241
placenta45 / 280825160
prostate22 / 189345116
salivary gland7 / 20155347
skin26 / 210574123
spleen8 / 53952148
stomach14 / 96619144
testis43 / 330442130
thymus8 / 8113198
thyroid10 / 47473210
tonsil6 / 16999352
trachea1 / 5241319
umbilical cord6 / 13680438
uterus17 / 23287872
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212041_at
Cell line Expression level Expression bar
721_B_lymphoblasts490.15
Adipocyte375.05
AdrenalCortex245.35
Adrenalgland500.55
Amygdala1304.15
Appendix34.7
AtrioventricularNode10.3
BDCA4+_DentriticCells1337.85
Bonemarrow562.25
BronchialEpithelialCells529
CD105+_Endothelial856.05
CD14+_Monocytes2122.7
CD19+_BCells(neg._sel.)550.55
CD33+_Myeloid2447.05
CD34+388.45
CD4+_Tcells234.4
CD56+_NKCells874.8
CD71+_EarlyErythroid1440.2
CD8+_Tcells299
CardiacMyocytes344.85
Caudatenucleus510.95
Cerebellum629.95
CerebellumPeduncles738.8
CiliaryGanglion22.75
CingulateCortex514.6
Colorectaladenocarcinoma331.6
DorsalRootGanglion94.9
FetalThyroid322.6
Fetalbrain387.9
Fetalliver242.3
Fetallung368.95
GlobusPallidus306.05
Heart1627.4
Hypothalamus1282.95
Kidney498.2
Leukemia_chronicMyelogenousK-562137.9
Leukemia_promyelocytic-HL-6078.25
Leukemialymphoblastic(MOLT-4)92.15
Liver1096.1
Lung1241.65
Lymphnode249.4
Lymphoma_burkitts(Daudi)95.8
Lymphoma_burkitts(Raji)34.45
MedullaOblongata577.3
OccipitalLobe742.5
OlfactoryBulb91.65
Ovary63.1
Pancreas155.55
PancreaticIslet599.85
ParietalLobe791.75
Pituitary636.95
Placenta881.25
Pons371.95
PrefrontalCortex815.75
Prostate927.65
Salivarygland55.6
SkeletalMuscle190.9
Skin69.55
SmoothMuscle626.25
Spinalcord475.5
SubthalamicNucleus461.3
SuperiorCervicalGanglion19.8
TemporalLobe437.85
Testis656.15
TestisGermCell353.35
TestisIntersitial238.55
TestisLeydigCell268.1
TestisSeminiferousTubule244.25
Thalamus877.65
Thymus554.55
Thyroid851.4
Tongue155.5
Tonsil283
Trachea259.75
TrigeminalGanglion38.15
Uterus339.3
UterusCorpus231.75
WholeBlood2119.3
Wholebrain1709.2
colon1047.05
pineal_day1435.24
pineal_night1765.12
retina820.45
small_intestine576.85
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_11939_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
Amygdala4.74 ± 0.91
Basal Forebrain4.51 ± 0.39
Basal Part of Pons5.57 ± 0.65
Cerebellar Cortex5.31 ± 0.72
Cerebellar Nuclei4.39 ± 0.4
Claustrum4.15 ± 0.86
Epithalamus4.71 ± 0.77
Frontal Lobe5.3 ± 0.65
Globus Pallidus3.49 ± 0.58
Hypothalamus5.23 ± 0.85
Insula5.4 ± 0.61
Limbic Lobe4.94 ± 0.86
Mesencephalon4.9 ± 0.76
Myelencephalon4.84 ± 0.91
Occipital Lobe4.12 ± 0.86
Parietal Lobe4.8 ± 0.84
Pontine Tegmentum4.78 ± 0.73
Striatum3.87 ± 0.79
Subthalamus4.98 ± 0.3
Temporal Lobe5.22 ± 0.69
Thalamus4.89 ± 0.76
White Matter4.06 ± 0.42
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp6v0d1CBCerebellum23.39
61.42
Atp6v0d1CTXCerebral cortex100
100
Atp6v0d1HIPHippocampal region100
100
Atp6v0d1HPFHippocampal formation100
100
Atp6v0d1HYHypothalamus91.76
100
Atp6v0d1LSXLateral septal complex100
100
Atp6v0d1MBMidbrain48.67
73.14
Atp6v0d1MYMedulla23.9
54.38
Atp6v0d1OLFOlfactory bulb100
100
Atp6v0d1PPons36.98
80.74
Atp6v0d1PALPallidum100
100
Atp6v0d1RHPRetrohippocampal region100
100
Atp6v0d1sAMYStriatum-like amygdalar nuclei100
100
Atp6v0d1STRStriatum100
100
Atp6v0d1STRdStriatum dorsal region100
100
Atp6v0d1STRvStriatum ventral region100
100
Atp6v0d1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000387 22 25 46 AGVLSQADYLNLVQCETLEDLK Peptide Atlas
VA0D1_HUMAN_246 11 246 256 LYPEGLAQLAR PRIDE
VA0D1_HUMAN_257 18 257 274 ADDYEQVKNVADYYPEYK PRIDE
VA0D1_HUMAN_275 13 275 287 LLFEGAGSNPGDK PRIDE
VA0D1_HUMAN_327 12 327 338 NIVWIAECIAQR 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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