AutismKB 2.0

Annotation Detail for ATP6V1F


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Basic Information Top
Gene Symbol:ATP6V1F ( ATP6S14,MGC117321,MGC126037,MGC126038,VATF,Vma7 )
Gene Full Name: ATPase, H+ transporting, lysosomal 14kDa, V1 subunit F
Band: 7q32.1
Quick LinksEntrez ID:9296; OMIM: 607160; Uniprot ID:VATF_HUMAN; ENSEMBL ID: ENSG00000128524; HGNC ID: 16832
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 body4 / 7076156
blastocyst1 / 6231916
fetus40 / 56401270
neonate1 / 3109732
infant0 / 236200 
juvenile1 / 5555617
adult209 / 1939121107
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor6 / 12794468
bladder carcinoma0 / 174750 
breast (mammary gland) tumor21 / 94178222
cervical tumor2 / 3436658
chondrosarcoma3 / 8282336
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor10 / 11936983
germ cell tumor7 / 26384526
glioma9 / 10688384
head and neck tumor3 / 13630222
kidney tumor4 / 6895958
leukemia9 / 9584293
liver tumor6 / 9635962
lung tumor11 / 103127106
lymphoma2 / 7175527
non-neoplasia2 / 9725020
normal263 / 336030778
ovarian tumor5 / 7668265
pancreatic tumor14 / 104616133
primitive neuroectodermal tumor of the CNS8 / 12568063
prostate cancer17 / 102680165
retinoblastoma1 / 4635621
skin tumor13 / 124949104
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland7 / 33197210
ascites2 / 4001549
bladder0 / 297570 
blood5 / 12347840
bone1 / 7165513
bone marrow4 / 4880181
brain83 / 110098975
cervix2 / 4817141
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue5 / 21572223
esophagus0 / 202090 
eye18 / 21105485
heart11 / 89626122
intestine12 / 23447251
kidney6 / 21177728
larynx0 / 241450 
liver8 / 20774338
lung40 / 336974118
lymph2 / 4427045
lymph node3 / 9161032
mammary gland31 / 153271202
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary9 / 10205188
pancreas25 / 214812116
parathyroid12 / 20539584
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta24 / 28082585
prostate24 / 189345126
salivary gland5 / 20155248
skin35 / 210574166
spleen1 / 5395218
stomach8 / 9661982
testis20 / 33044260
thymus0 / 811310 
thyroid3 / 4747363
tonsil1 / 1699958
trachea0 / 524130 
umbilical cord1 / 1368073
uterus22 / 23287894
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201527_at
Cell line Expression level Expression bar
721_B_lymphoblasts990.35
Adipocyte416.2
AdrenalCortex231.05
Adrenalgland423.9
Amygdala525
Appendix292.65
AtrioventricularNode61.85
BDCA4+_DentriticCells558
Bonemarrow379.05
BronchialEpithelialCells766.5
CD105+_Endothelial294.7
CD14+_Monocytes912
CD19+_BCells(neg._sel.)507.2
CD33+_Myeloid893.8
CD34+523
CD4+_Tcells400.85
CD56+_NKCells617.5
CD71+_EarlyErythroid353.9
CD8+_Tcells318.55
CardiacMyocytes379.6
Caudatenucleus479.2
Cerebellum656.95
CerebellumPeduncles852.55
CiliaryGanglion86.3
CingulateCortex726
Colorectaladenocarcinoma400.95
DorsalRootGanglion131.6
FetalThyroid303.85
Fetalbrain394.5
Fetalliver199.85
Fetallung323.15
GlobusPallidus377.9
Heart1138.7
Hypothalamus669.2
Kidney694.5
Leukemia_chronicMyelogenousK-562570.95
Leukemia_promyelocytic-HL-60557.15
Leukemialymphoblastic(MOLT-4)433.9
Liver483.45
Lung622.25
Lymphnode292.7
Lymphoma_burkitts(Daudi)822.05
Lymphoma_burkitts(Raji)486.95
MedullaOblongata522.95
OccipitalLobe559.6
OlfactoryBulb255.9
Ovary169.9
Pancreas229.65
PancreaticIslet423.6
ParietalLobe590.65
Pituitary544.5
Placenta722.1
Pons421.75
PrefrontalCortex811.5
Prostate426.9
Salivarygland177.45
SkeletalMuscle228.95
Skin118.5
SmoothMuscle572.3
Spinalcord561.7
SubthalamicNucleus739.35
SuperiorCervicalGanglion149.2
TemporalLobe841.1
Testis903.15
TestisGermCell680.55
TestisIntersitial908.8
TestisLeydigCell650.05
TestisSeminiferousTubule619.4
Thalamus773.35
Thymus424.55
Thyroid265.45
Tongue268.65
Tonsil436.1
Trachea295.65
TrigeminalGanglion125.55
Uterus258.65
UterusCorpus288.35
WholeBlood465.05
Wholebrain1318.55
colon274.5
pineal_day1177.44
pineal_night1093.62
retina891.05
small_intestine324.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5777_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
Amygdala8.77 ± 0.46
Basal Forebrain8.75 ± 0.22
Basal Part of Pons9.41 ± 0.47
Cerebellar Cortex9.26 ± 0.32
Cerebellar Nuclei9.15 ± 0.35
Claustrum8.53 ± 0.6
Epithalamus9.02 ± 0.27
Frontal Lobe9.28 ± 0.4
Globus Pallidus8.2 ± 0.35
Hypothalamus9.53 ± 0.23
Insula9.32 ± 0.28
Limbic Lobe8.84 ± 0.64
Mesencephalon8.88 ± 0.46
Myelencephalon8.91 ± 0.64
Occipital Lobe8.31 ± 0.64
Parietal Lobe9.03 ± 0.46
Pontine Tegmentum9 ± 0.57
Striatum8.22 ± 0.56
Subthalamus9.16 ± 0.44
Temporal Lobe9.22 ± 0.44
Thalamus8.88 ± 0.45
White Matter7.88 ± 0.41
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp6v1fCBCerebellum50.15
100
Atp6v1fCTXCerebral cortex100
100
Atp6v1fHIPHippocampal region100
100
Atp6v1fHPFHippocampal formation100
100
Atp6v1fHYHypothalamus97.63
100
Atp6v1fLSXLateral septal complex89.86
89
Atp6v1fMBMidbrain94.82
100
Atp6v1fMYMedulla77.86
100
Atp6v1fOLFOlfactory bulb100
100
Atp6v1fPPons74.72
100
Atp6v1fPALPallidum81.61
100
Atp6v1fRHPRetrohippocampal region100
100
Atp6v1fsAMYStriatum-like amygdalar nuclei97.73
100
Atp6v1fSTRStriatum100
100
Atp6v1fSTRdStriatum dorsal region96.3
94.65
Atp6v1fSTRvStriatum ventral region100
100
Atp6v1fTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00003225 19 76 94 HALDAHQQSIPAVLEIPSK Peptide Atlas
VATF_HUMAN_0 0 0 0 GMFTAEDLR PRIDE
VATF_HUMAN_0 0 0 0 NRHPNFLVVEK PRIDE
VATF_HUMAN_111 9 111 119 GMFTAEDLR 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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