AutismKB 2.0

Annotation Detail for ATP6V1G2


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Basic Information Top
Gene Symbol:ATP6V1G2 ( ATP6G,ATP6G2,NG38,VMA10 )
Gene Full Name: ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2
Band: 6p21.33
Quick LinksEntrez ID:534; OMIM: 606853; Uniprot ID:VATG2_HUMAN; ENSEMBL ID: ENSG00000213760; HGNC ID: 862
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
fetus1 / 5640121
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult31 / 193912115
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 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor0 / 2638450 
glioma1 / 1068839
head and neck tumor0 / 1363020 
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal37 / 336030711
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain35 / 110098931
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue1 / 2157224
esophagus0 / 202090 
eye2 / 2110549
heart0 / 896260 
intestine0 / 2344720 
kidney0 / 2117770 
larynx0 / 241450 
liver0 / 2077430 
lung2 / 3369745
lymph0 / 442700 
lymph node1 / 9161010
mammary gland1 / 1532716
mouth0 / 670520 
muscle1 / 1077159
nerve2 / 15768126
ovary0 / 1020510 
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis3 / 3304429
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus2 / 2328788
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 214762_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.3
Adipocyte5.95
AdrenalCortex6.55
Adrenalgland5.15
Amygdala463.8
Appendix8.2
AtrioventricularNode10.85
BDCA4+_DentriticCells6.15
Bonemarrow5.9
BronchialEpithelialCells5.85
CD105+_Endothelial6.1
CD14+_Monocytes6.3
CD19+_BCells(neg._sel.)6.3
CD33+_Myeloid7.2
CD34+7.5
CD4+_Tcells6.5
CD56+_NKCells6.95
CD71+_EarlyErythroid5.85
CD8+_Tcells5.9
CardiacMyocytes7.45
Caudatenucleus108.95
Cerebellum1082.35
CerebellumPeduncles1482.5
CiliaryGanglion10.2
CingulateCortex529.9
Colorectaladenocarcinoma5.9
DorsalRootGanglion12.15
FetalThyroid6.65
Fetalbrain183.3
Fetalliver5.25
Fetallung4.85
GlobusPallidus240.75
Heart7.55
Hypothalamus435.4
Kidney6.45
Leukemia_chronicMyelogenousK-5625.3
Leukemia_promyelocytic-HL-605.2
Leukemialymphoblastic(MOLT-4)4.8
Liver7.85
Lung6.45
Lymphnode5.05
Lymphoma_burkitts(Daudi)8.95
Lymphoma_burkitts(Raji)8.3
MedullaOblongata327.65
OccipitalLobe508.1
OlfactoryBulb4.9
Ovary5.25
Pancreas5
PancreaticIslet6.4
ParietalLobe362.45
Pituitary7.8
Placenta6.1
Pons215
PrefrontalCortex638.2
Prostate7
Salivarygland5.1
SkeletalMuscle6.75
Skin5.45
SmoothMuscle6.7
Spinalcord97.8
SubthalamicNucleus507.55
SuperiorCervicalGanglion15.1
TemporalLobe522.75
Testis5.2
TestisGermCell5.05
TestisIntersitial5.1
TestisLeydigCell6.25
TestisSeminiferousTubule5.3
Thalamus421.4
Thymus4.6
Thyroid7.4
Tongue5.8
Tonsil6.2
Trachea4.95
TrigeminalGanglion8.55
Uterus4.75
UterusCorpus6
WholeBlood6.45
Wholebrain1007.85
colon5.75
pineal_day670.42
pineal_night734.46
retina40.35
small_intestine5.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_2209_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
Amygdala2.34 ± 1.2
Basal Forebrain1.69 ± 0.17
Basal Part of Pons1.62 ± 0.63
Cerebellar Cortex1.69 ± 1.03
Cerebellar Nuclei2.29 ± 0.46
Claustrum2.93 ± 1.16
Epithalamus1.47 ± 1.05
Frontal Lobe1.67 ± 0.87
Globus Pallidus2.54 ± 0.63
Hypothalamus1.84 ± 0.82
Insula1.42 ± 0.32
Limbic Lobe1.88 ± 0.94
Mesencephalon1.93 ± 0.8
Myelencephalon1.87 ± 0.8
Occipital Lobe1.88 ± 0.73
Parietal Lobe1.97 ± 1.08
Pontine Tegmentum1.98 ± 0.98
Striatum2.19 ± 0.79
Subthalamus2.1 ± 0.5
Temporal Lobe1.8 ± 1.02
Thalamus1.75 ± 0.67
White Matter1.73 ± 0.16
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp6v1g2CBCerebellum100
100
Atp6v1g2CTXCerebral cortex100
100
Atp6v1g2HIPHippocampal region100
100
Atp6v1g2HPFHippocampal formation100
100
Atp6v1g2HYHypothalamus100
100
Atp6v1g2LSXLateral septal complex100
100
Atp6v1g2MBMidbrain100
100
Atp6v1g2MYMedulla100
100
Atp6v1g2OLFOlfactory bulb100
100
Atp6v1g2PPons94.62
100
Atp6v1g2PALPallidum100
100
Atp6v1g2RHPRetrohippocampal region100
100
Atp6v1g2sAMYStriatum-like amygdalar nuclei100
100
Atp6v1g2STRStriatum100
100
Atp6v1g2STRdStriatum dorsal region100
100
Atp6v1g2STRvStriatum ventral region100
100
Atp6v1g2THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00080406 21 95 115 VLAQLLGMVCDVRPQVHPNYR Peptide Atlas

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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