AutismKB 2.0

Annotation Detail for ATP6V0C


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Basic Information Top
Gene Symbol:ATP6V0C ( ATP6C,ATP6L,ATPL,VATL,VPPC,Vma3 )
Gene Full Name: ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c
Band: 16p13.3
Quick LinksEntrez ID:527; OMIM: 108745; Uniprot ID:VATL_HUMAN; ENSEMBL ID: ENSG00000185883; HGNC ID: 855
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 body10 / 70761141
blastocyst4 / 6231964
fetus43 / 56401276
neonate3 / 3109796
infant1 / 2362042
juvenile7 / 55556125
adult338 / 1939121174
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor3 / 12794234
bladder carcinoma0 / 174750 
breast (mammary gland) tumor15 / 94178159
cervical tumor1 / 3436629
chondrosarcoma28 / 82823338
colorectal tumor15 / 114246131
esophageal tumor1 / 1729057
gastrointestinal tumor55 / 119369460
germ cell tumor27 / 263845102
glioma9 / 10688384
head and neck tumor4 / 13630229
kidney tumor8 / 68959116
leukemia24 / 95842250
liver tumor5 / 9635951
lung tumor24 / 103127232
lymphoma5 / 7175569
non-neoplasia12 / 97250123
normal360 / 3360307107
ovarian tumor16 / 76682208
pancreatic tumor52 / 104616497
primitive neuroectodermal tumor of the CNS19 / 125680151
prostate cancer32 / 102680311
retinoblastoma8 / 46356172
skin tumor46 / 124949368
soft tissue/muscle tissue tumor10 / 12519179
uterine tumor20 / 90257221
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland5 / 33197150
ascites6 / 40015149
bladder0 / 297570 
blood24 / 123478194
bone19 / 71655265
bone marrow2 / 4880140
brain79 / 110098971
cervix5 / 48171103
connective tissue19 / 149255127
ear1 / 1621261
embryonic tissue20 / 21572292
esophagus1 / 2020949
eye57 / 211054270
heart6 / 8962666
intestine35 / 234472149
kidney21 / 21177799
larynx0 / 241450 
liver8 / 20774338
lung51 / 336974151
lymph4 / 4427090
lymph node19 / 91610207
mammary gland26 / 153271169
mouth1 / 6705214
muscle9 / 10771583
nerve6 / 15768380
ovary29 / 102051284
pancreas63 / 214812293
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland3 / 16585180
placenta39 / 280825138
prostate38 / 189345200
salivary gland2 / 2015599
skin64 / 210574303
spleen2 / 5395237
stomach47 / 96619486
testis7 / 33044221
thymus0 / 811310 
thyroid0 / 474730 
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord3 / 13680219
uterus28 / 232878120
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 36994_at
Cell line Expression level Expression bar
721_B_lymphoblasts622
Adipocyte400.6
AdrenalCortex247.55
Adrenalgland468
Amygdala2898.45
Appendix50.95
AtrioventricularNode16
BDCA4+_DentriticCells1317.15
Bonemarrow573.4
BronchialEpithelialCells597.9
CD105+_Endothelial469.5
CD14+_Monocytes1596.85
CD19+_BCells(neg._sel.)786.45
CD33+_Myeloid1902.5
CD34+653.55
CD4+_Tcells399.85
CD56+_NKCells1103.65
CD71+_EarlyErythroid1053.15
CD8+_Tcells397.85
CardiacMyocytes356.2
Caudatenucleus1017.5
Cerebellum1146.5
CerebellumPeduncles1598.3
CiliaryGanglion72.75
CingulateCortex1447.7
Colorectaladenocarcinoma339.15
DorsalRootGanglion147.85
FetalThyroid558.25
Fetalbrain636.8
Fetalliver204.4
Fetallung434.6
GlobusPallidus898.1
Heart1111.25
Hypothalamus1444.5
Kidney797.35
Leukemia_chronicMyelogenousK-562335.1
Leukemia_promyelocytic-HL-60310.85
Leukemialymphoblastic(MOLT-4)178.8
Liver1152.15
Lung1966.2
Lymphnode373.65
Lymphoma_burkitts(Daudi)96.4
Lymphoma_burkitts(Raji)552.45
MedullaOblongata1175.2
OccipitalLobe1670.05
OlfactoryBulb448.6
Ovary87.85
Pancreas192.8
PancreaticIslet525.6
ParietalLobe1398.55
Pituitary796.6
Placenta1098.85
Pons919.95
PrefrontalCortex1961.15
Prostate1660
Salivarygland104.6
SkeletalMuscle126.2
Skin110.65
SmoothMuscle664.05
Spinalcord871.8
SubthalamicNucleus1203
SuperiorCervicalGanglion43.85
TemporalLobe1254.5
Testis594
TestisGermCell533.3
TestisIntersitial195.95
TestisLeydigCell222.6
TestisSeminiferousTubule234.2
Thalamus1725.6
Thymus486.15
Thyroid1377
Tongue213.4
Tonsil254.2
Trachea245.4
TrigeminalGanglion76.75
Uterus450.75
UterusCorpus192.45
WholeBlood1220.5
Wholebrain2729.6
colon290.25
pineal_day3108.02
pineal_night3078.2
retina1076.15
small_intestine245.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_3085_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
Amygdala11.8 ± 0.46
Basal Forebrain11.72 ± 0.34
Basal Part of Pons12.68 ± 0.14
Cerebellar Cortex12.09 ± 0.29
Cerebellar Nuclei12.13 ± 0.38
Claustrum12.07 ± 0.39
Epithalamus11.66 ± 0.37
Frontal Lobe12.24 ± 0.29
Globus Pallidus11.05 ± 0.35
Hypothalamus12.28 ± 0.23
Insula12.24 ± 0.21
Limbic Lobe11.96 ± 0.58
Mesencephalon11.8 ± 0.37
Myelencephalon11.92 ± 0.54
Occipital Lobe11.51 ± 0.59
Parietal Lobe12.02 ± 0.38
Pontine Tegmentum11.89 ± 0.34
Striatum11.3 ± 0.49
Subthalamus12.42 ± 0.3
Temporal Lobe12.21 ± 0.33
Thalamus11.96 ± 0.29
White Matter10.94 ± 0.35
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp6v0cCBCerebellum100
100
Atp6v0cCTXCerebral cortex100
100
Atp6v0cHIPHippocampal region100
100
Atp6v0cHPFHippocampal formation100
100
Atp6v0cHYHypothalamus100
100
Atp6v0cLSXLateral septal complex100
100
Atp6v0cMBMidbrain100
100
Atp6v0cMYMedulla100
100
Atp6v0cOLFOlfactory bulb100
100
Atp6v0cPPons100
100
Atp6v0cPALPallidum100
100
Atp6v0cRHPRetrohippocampal region100
100
Atp6v0csAMYStriatum-like amygdalar nuclei100
100
Atp6v0cSTRStriatum100
100
Atp6v0cSTRdStriatum dorsal region100
100
Atp6v0cSTRvStriatum ventral region100
100
Atp6v0cTHThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00007147 18 37 54 SGTGIAAMSVMRPEQIMK 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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