AutismKB 2.0

Annotation Detail for ATP6V1E1


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Basic Information Top
Gene Symbol:ATP6V1E1 ( ATP6E,ATP6E2,ATP6V1E,P31,Vma4 )
Gene Full Name: ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
Band: 22q11.21
Quick LinksEntrez ID:529; OMIM: 108746; Uniprot ID:VATE1_HUMAN; ENSEMBL ID: ENSG00000131100; HGNC ID: 857
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 body12 / 70761169
blastocyst6 / 6231996
fetus53 / 56401293
neonate3 / 3109796
infant1 / 2362042
juvenile13 / 55556233
adult249 / 1939121128
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor5 / 12794390
bladder carcinoma3 / 17475171
breast (mammary gland) tumor11 / 94178116
cervical tumor11 / 34366320
chondrosarcoma19 / 82823229
colorectal tumor13 / 114246113
esophageal tumor3 / 17290173
gastrointestinal tumor26 / 119369217
germ cell tumor25 / 26384594
glioma10 / 10688393
head and neck tumor15 / 136302110
kidney tumor9 / 68959130
leukemia17 / 95842177
liver tumor21 / 96359217
lung tumor13 / 103127126
lymphoma13 / 71755181
non-neoplasia6 / 9725061
normal457 / 3360307135
ovarian tumor15 / 76682195
pancreatic tumor10 / 10461695
primitive neuroectodermal tumor of the CNS30 / 125680238
prostate cancer16 / 102680155
retinoblastoma6 / 46356129
skin tumor27 / 124949216
soft tissue/muscle tissue tumor20 / 125191159
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland5 / 33197150
ascites8 / 40015199
bladder2 / 2975767
blood16 / 123478129
bone13 / 71655181
bone marrow7 / 48801143
brain240 / 1100989217
cervix11 / 48171228
connective tissue17 / 149255113
ear3 / 16212185
embryonic tissue29 / 215722134
esophagus3 / 20209148
eye28 / 211054132
heart13 / 89626145
intestine26 / 234472110
kidney27 / 211777127
larynx3 / 24145124
liver35 / 207743168
lung49 / 336974145
lymph5 / 44270112
lymph node20 / 91610218
mammary gland15 / 15327197
mouth4 / 6705259
muscle19 / 107715176
nerve4 / 15768253
ovary18 / 102051176
pancreas35 / 214812162
parathyroid1 / 2053948
pharynx11 / 41328266
pituitary gland4 / 16585241
placenta51 / 280825181
prostate19 / 189345100
salivary gland7 / 20155347
skin47 / 210574223
spleen7 / 53952129
stomach17 / 96619175
testis26 / 33044278
thymus6 / 8113173
thyroid4 / 4747384
tonsil7 / 16999411
trachea1 / 5241319
umbilical cord1 / 1368073
uterus27 / 232878115
vascular8 / 51780154
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208678_at
Cell line Expression level Expression bar
721_B_lymphoblasts296.05
Adipocyte210.35
AdrenalCortex177
Adrenalgland111.7
Amygdala360.7
Appendix54.25
AtrioventricularNode63.55
BDCA4+_DentriticCells523.75
Bonemarrow140.75
BronchialEpithelialCells331.05
CD105+_Endothelial312.7
CD14+_Monocytes517.85
CD19+_BCells(neg._sel.)328.35
CD33+_Myeloid727.65
CD34+477.1
CD4+_Tcells295.4
CD56+_NKCells617.55
CD71+_EarlyErythroid402.2
CD8+_Tcells277.5
CardiacMyocytes220.8
Caudatenucleus437.5
Cerebellum118.6
CerebellumPeduncles386.5
CiliaryGanglion64.4
CingulateCortex709.2
Colorectaladenocarcinoma49.4
DorsalRootGanglion127.55
FetalThyroid108.45
Fetalbrain137.1
Fetalliver46.75
Fetallung181.65
GlobusPallidus455.55
Heart44.15
Hypothalamus963.45
Kidney123.55
Leukemia_chronicMyelogenousK-562364.75
Leukemia_promyelocytic-HL-60110.7
Leukemialymphoblastic(MOLT-4)126.15
Liver30.6
Lung118.65
Lymphnode145.9
Lymphoma_burkitts(Daudi)129.7
Lymphoma_burkitts(Raji)101.25
MedullaOblongata675.35
OccipitalLobe914.15
OlfactoryBulb298.25
Ovary74.05
Pancreas76.15
PancreaticIslet273.4
ParietalLobe754.3
Pituitary392.4
Placenta316.3
Pons467.55
PrefrontalCortex964.2
Prostate67.4
Salivarygland59.35
SkeletalMuscle56.05
Skin61.75
SmoothMuscle363.85
Spinalcord508.15
SubthalamicNucleus615.8
SuperiorCervicalGanglion47.7
TemporalLobe713.8
Testis111.55
TestisGermCell234.15
TestisIntersitial134.15
TestisLeydigCell93.25
TestisSeminiferousTubule82.05
Thalamus960.65
Thymus84.35
Thyroid144.85
Tongue143.6
Tonsil138.95
Trachea86.8
TrigeminalGanglion56.7
Uterus60.3
UterusCorpus176.1
WholeBlood370.8
Wholebrain569.7
colon96.65
pineal_day988.06
pineal_night946.26
retina391
small_intestine88.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_5187_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
Amygdala11.75 ± 0.34
Basal Forebrain11.06 ± 0.2
Basal Part of Pons11.77 ± 0.23
Cerebellar Cortex11.03 ± 0.26
Cerebellar Nuclei11.59 ± 0.42
Claustrum12.08 ± 0.59
Epithalamus10.66 ± 0.54
Frontal Lobe11.43 ± 0.37
Globus Pallidus11.24 ± 0.4
Hypothalamus11.23 ± 0.33
Insula11.34 ± 0.28
Limbic Lobe11.75 ± 0.35
Mesencephalon11.39 ± 0.64
Myelencephalon11.39 ± 0.43
Occipital Lobe11.62 ± 0.37
Parietal Lobe11.44 ± 0.44
Pontine Tegmentum11.43 ± 0.4
Striatum11.51 ± 0.41
Subthalamus11.49 ± 0.28
Temporal Lobe11.47 ± 0.32
Thalamus11.49 ± 0.27
White Matter11.53 ± 0.59
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp6v1e1CBCerebellum83.67
100
Atp6v1e1CTXCerebral cortex100
100
Atp6v1e1HIPHippocampal region100
100
Atp6v1e1HPFHippocampal formation100
100
Atp6v1e1HYHypothalamus100
100
Atp6v1e1LSXLateral septal complex100
100
Atp6v1e1MBMidbrain100
100
Atp6v1e1MYMedulla100
100
Atp6v1e1OLFOlfactory bulb100
100
Atp6v1e1PPons99.44
100
Atp6v1e1PALPallidum100
100
Atp6v1e1RHPRetrohippocampal region100
100
Atp6v1e1sAMYStriatum-like amygdalar nuclei100
100
Atp6v1e1STRStriatum100
100
Atp6v1e1STRdStriatum dorsal region100
100
Atp6v1e1STRvStriatum ventral region100
100
Atp6v1e1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000672 14 86 99 ARDDLITDLLNEAK Peptide Atlas
VATE1_HUMAN_0 0 0 0 ARDDLITDLLNEAK PRIDE
VATE1_HUMAN_0 0 0 0 DDLITDLLNEAK PRIDE
VATE1_HUMAN_0 0 0 0 IQMSNLMNQAR PRIDE
VATE1_HUMAN_111 20 111 130 YQVLLDGLVLQGLYQLLEPR PRIDE
VATE1_HUMAN_199 13 199 211 LDLIAQQMMPEVR PRIDE
VATE1_HUMAN_2 13 2 14 ALSDADVQKQIKH PRIDE
VATE1_HUMAN_200 13 200 212 LDLIAQQMMPEVR PRIDE
VATE1_HUMAN_212 11 212 222 GALFGANANRK PRIDE
VATE1_HUMAN_213 10 213 222 GALFGANANR PRIDE
VATE1_HUMAN_69 11 69 79 IQMSNLMNQAR PRIDE
VATE1_HUMAN_85 14 85 98 ARDDLITDLLNEAK PRIDE
VATE1_HUMAN_85 16 85 100 ARDDLITDLLNEAKQR 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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