AutismKB 2.0

Annotation Detail for ATP6V1B2


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Basic Information Top
Gene Symbol:ATP6V1B2 ( ATP6B1B2,ATP6B2,HO57,VATB,VPP3,Vma2 )
Gene Full Name: ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2
Band: 8p21.3
Quick LinksEntrez ID:526; OMIM: 606939; Uniprot ID:VATB2_HUMAN; ENSEMBL ID: ENSG00000147416; HGNC ID: 854
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 body2 / 7076128
blastocyst7 / 62319112
fetus76 / 564012134
neonate5 / 31097160
infant3 / 23620127
juvenile16 / 55556287
adult162 / 193912183
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) tumor9 / 9417895
cervical tumor2 / 3436658
chondrosarcoma10 / 82823120
colorectal tumor4 / 11424635
esophageal tumor2 / 17290115
gastrointestinal tumor11 / 11936992
germ cell tumor50 / 263845189
glioma10 / 10688393
head and neck tumor8 / 13630258
kidney tumor14 / 68959203
leukemia10 / 95842104
liver tumor6 / 9635962
lung tumor6 / 10312758
lymphoma4 / 7175555
non-neoplasia9 / 9725092
normal492 / 3360307146
ovarian tumor5 / 7668265
pancreatic tumor31 / 104616296
primitive neuroectodermal tumor of the CNS14 / 125680111
prostate cancer4 / 10268038
retinoblastoma12 / 46356258
skin tumor27 / 124949216
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites5 / 40015124
bladder3 / 29757100
blood20 / 123478161
bone5 / 7165569
bone marrow2 / 4880140
brain356 / 1100989323
cervix2 / 4817141
connective tissue10 / 14925566
ear0 / 162120 
embryonic tissue12 / 21572255
esophagus2 / 2020998
eye41 / 211054194
heart9 / 89626100
intestine13 / 23447255
kidney29 / 211777136
larynx0 / 241450 
liver7 / 20774333
lung25 / 33697474
lymph1 / 4427022
lymph node4 / 9161043
mammary gland18 / 153271117
mouth6 / 6705289
muscle6 / 10771555
nerve8 / 15768507
ovary5 / 10205148
pancreas39 / 214812181
parathyroid4 / 20539194
pharynx2 / 4132848
pituitary gland4 / 16585241
placenta15 / 28082553
prostate7 / 18934536
salivary gland0 / 201550 
skin41 / 210574194
spleen3 / 5395255
stomach6 / 9661962
testis95 / 330442287
thymus7 / 8113186
thyroid5 / 47473105
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus13 / 23287855
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201089_at
Cell line Expression level Expression bar
721_B_lymphoblasts225.35
Adipocyte73.05
AdrenalCortex57.3
Adrenalgland59.95
Amygdala902.3
Appendix45.35
AtrioventricularNode12.8
BDCA4+_DentriticCells581.9
Bonemarrow82.65
BronchialEpithelialCells112.35
CD105+_Endothelial78.6
CD14+_Monocytes935.5
CD19+_BCells(neg._sel.)49.85
CD33+_Myeloid1226.95
CD34+150.1
CD4+_Tcells69.4
CD56+_NKCells173.05
CD71+_EarlyErythroid57.55
CD8+_Tcells65.5
CardiacMyocytes39.85
Caudatenucleus160.4
Cerebellum202.45
CerebellumPeduncles225.15
CiliaryGanglion37.4
CingulateCortex402.3
Colorectaladenocarcinoma61.65
DorsalRootGanglion44.35
FetalThyroid21.55
Fetalbrain137.4
Fetalliver48.5
Fetallung67.7
GlobusPallidus299
Heart5.25
Hypothalamus1042.55
Kidney137.4
Leukemia_chronicMyelogenousK-56260.05
Leukemia_promyelocytic-HL-6055.5
Leukemialymphoblastic(MOLT-4)113.8
Liver4.8
Lung126.15
Lymphnode45.85
Lymphoma_burkitts(Daudi)72.55
Lymphoma_burkitts(Raji)10.45
MedullaOblongata379
OccipitalLobe760.7
OlfactoryBulb43.75
Ovary25.35
Pancreas20.55
PancreaticIslet253.3
ParietalLobe560.65
Pituitary335.75
Placenta119.2
Pons189.2
PrefrontalCortex820.4
Prostate21.85
Salivarygland41.9
SkeletalMuscle14.25
Skin24.35
SmoothMuscle119.4
Spinalcord117.45
SubthalamicNucleus386.1
SuperiorCervicalGanglion27.5
TemporalLobe261.75
Testis184.7
TestisGermCell189.3
TestisIntersitial116.9
TestisLeydigCell94.05
TestisSeminiferousTubule98.6
Thalamus751.05
Thymus64.1
Thyroid43.55
Tongue16.95
Tonsil54.85
Trachea37.35
TrigeminalGanglion23.1
Uterus26.85
UterusCorpus46.95
WholeBlood1685.65
Wholebrain911.4
colon41.25
pineal_day1572.8
pineal_night1406.86
retina307.525
small_intestine65.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P31844
  • 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
Amygdala9 ± 0.5
Basal Forebrain9.17 ± 0.28
Basal Part of Pons9.89 ± 0.26
Cerebellar Cortex9.41 ± 0.31
Cerebellar Nuclei9.62 ± 0.38
Claustrum9.61 ± 0.48
Epithalamus8.83 ± 0.38
Frontal Lobe9.62 ± 0.39
Globus Pallidus8.36 ± 0.57
Hypothalamus9.75 ± 0.56
Insula9.59 ± 0.28
Limbic Lobe9.32 ± 0.58
Mesencephalon9.45 ± 0.66
Myelencephalon9.28 ± 0.66
Occipital Lobe8.77 ± 0.72
Parietal Lobe9.54 ± 0.42
Pontine Tegmentum9.28 ± 0.53
Striatum8.22 ± 0.57
Subthalamus10.12 ± 0.26
Temporal Lobe9.56 ± 0.38
Thalamus9.4 ± 0.43
White Matter8.05 ± 0.26
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp6v1b2CBCerebellum81.15
78.27
Atp6v1b2CTXCerebral cortex100
100
Atp6v1b2HIPHippocampal region98.57
100
Atp6v1b2HPFHippocampal formation100
100
Atp6v1b2HYHypothalamus100
100
Atp6v1b2LSXLateral septal complex99.04
93.52
Atp6v1b2MBMidbrain100
100
Atp6v1b2MYMedulla100
100
Atp6v1b2OLFOlfactory bulb100
100
Atp6v1b2PPons98.22
100
Atp6v1b2PALPallidum100
100
Atp6v1b2RHPRetrohippocampal region100
100
Atp6v1b2sAMYStriatum-like amygdalar nuclei100
100
Atp6v1b2STRStriatum93.6
76.81
Atp6v1b2STRdStriatum dorsal region78.76
59.65
Atp6v1b2STRvStriatum ventral region100
96.38
Atp6v1b2THThalamus87.82
92.72
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00001621 17 414 430 DHADVSNQLYACYAIGK Peptide Atlas
VATB2_HUMAN_0 0 0 0 IPIFSAAGLPHNEIAAQICR PRIDE
VATB2_HUMAN_163 22 163 184 IYPEEMIQTGISAIDGMNSIAR PRIDE
VATB2_HUMAN_188 20 188 207 IPIFSAAGLPHNEIAAQICR PRIDE
VATB2_HUMAN_308 13 308 320 EVSAAREEVPGRR PRIDE
VATB2_HUMAN_321 16 321 336 GFPGYMYTDLATIYER PRIDE
VATB2_HUMAN_386 14 386 399 QIYPPINVLPSLSR PRIDE
VATB2_HUMAN_387 14 387 400 QIYPPINVLPSLSR PRIDE
VATB2_HUMAN_460 11 460 470 NFIAQGPYENR PRIDE
VATB2_HUMAN_471 14 471 484 TVFETLDIGWQLLR PRIDE
VATB2_HUMAN_93 15 93 107 AVVQVFEGTSGIDAK 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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