AutismKB 2.0

Annotation Detail for ATP6V1C1


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Basic Information Top
Gene Symbol:ATP6V1C1 ( ATP6C,ATP6D,FLJ20057,VATC,Vma5 )
Gene Full Name: ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1
Band: 8q22.3
Quick LinksEntrez ID:528; OMIM: 603097; Uniprot ID:VATC1_HUMAN; ENSEMBL ID: ENSG00000155097; HGNC ID: 856
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 body3 / 7076142
blastocyst2 / 6231932
fetus32 / 56401256
neonate8 / 31097257
infant0 / 236200 
juvenile5 / 5555689
adult135 / 193912169
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor6 / 9417863
cervical tumor2 / 3436658
chondrosarcoma6 / 8282372
colorectal tumor0 / 1142460 
esophageal tumor4 / 17290231
gastrointestinal tumor28 / 119369234
germ cell tumor22 / 26384583
glioma3 / 10688328
head and neck tumor10 / 13630273
kidney tumor2 / 6895929
leukemia3 / 9584231
liver tumor4 / 9635941
lung tumor3 / 10312729
lymphoma2 / 7175527
non-neoplasia7 / 9725071
normal315 / 336030793
ovarian tumor4 / 7668252
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer8 / 10268077
retinoblastoma3 / 4635664
skin tumor11 / 12494988
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland5 / 33197150
ascites1 / 4001524
bladder4 / 29757134
blood8 / 12347864
bone3 / 7165541
bone marrow6 / 48801122
brain158 / 1100989143
cervix2 / 4817141
connective tissue6 / 14925540
ear3 / 16212185
embryonic tissue7 / 21572232
esophagus4 / 20209197
eye13 / 21105461
heart9 / 89626100
intestine6 / 23447225
kidney25 / 211777118
larynx1 / 2414541
liver9 / 20774343
lung18 / 33697453
lymph1 / 4427022
lymph node15 / 91610163
mammary gland10 / 15327165
mouth5 / 6705274
muscle3 / 10771527
nerve2 / 15768126
ovary5 / 10205148
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland3 / 16585180
placenta21 / 28082574
prostate13 / 18934568
salivary gland2 / 2015599
skin20 / 21057494
spleen6 / 53952111
stomach22 / 96619227
testis17 / 33044251
thymus7 / 8113186
thyroid2 / 4747342
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus19 / 23287881
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202872_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.35
Adipocyte8.95
AdrenalCortex12.75
Adrenalgland8.3
Amygdala61.15
Appendix14
AtrioventricularNode11.15
BDCA4+_DentriticCells8.3
Bonemarrow9.75
BronchialEpithelialCells9.85
CD105+_Endothelial11.4
CD14+_Monocytes9.45
CD19+_BCells(neg._sel.)8.6
CD33+_Myeloid15.7
CD34+10.15
CD4+_Tcells7.5
CD56+_NKCells9.95
CD71+_EarlyErythroid9
CD8+_Tcells7.2
CardiacMyocytes11.1
Caudatenucleus12.85
Cerebellum7.35
CerebellumPeduncles10.85
CiliaryGanglion11.25
CingulateCortex14
Colorectaladenocarcinoma8.75
DorsalRootGanglion11.55
FetalThyroid9.1
Fetalbrain11.2
Fetalliver8.2
Fetallung7.55
GlobusPallidus17.2
Heart13.2
Hypothalamus22.6
Kidney8.75
Leukemia_chronicMyelogenousK-5628.15
Leukemia_promyelocytic-HL-6010.05
Leukemialymphoblastic(MOLT-4)6.9
Liver13.95
Lung9.4
Lymphnode7.6
Lymphoma_burkitts(Daudi)13.5
Lymphoma_burkitts(Raji)12.6
MedullaOblongata12.35
OccipitalLobe12.2
OlfactoryBulb9.25
Ovary7.1
Pancreas7.5
PancreaticIslet12.1
ParietalLobe10.65
Pituitary15.8
Placenta9.25
Pons8.75
PrefrontalCortex27.5
Prostate9.2
Salivarygland7.45
SkeletalMuscle15.25
Skin9.45
SmoothMuscle9.95
Spinalcord11.55
SubthalamicNucleus11.9
SuperiorCervicalGanglion12.65
TemporalLobe11.6
Testis6.75
TestisGermCell6.75
TestisIntersitial7.8
TestisLeydigCell9.1
TestisSeminiferousTubule7.4
Thalamus18.8
Thymus5.95
Thyroid11.35
Tongue10.8
Tonsil9
Trachea7.1
TrigeminalGanglion13.35
Uterus6.8
UterusCorpus9.85
WholeBlood14.95
Wholebrain18.95
colon7.3
pineal_day27.62
pineal_night42.22
retina10.45
small_intestine7.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P286598
  • 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
Amygdala5.07 ± 0.44
Basal Forebrain4.49 ± 0.39
Basal Part of Pons5.15 ± 0.3
Cerebellar Cortex4.92 ± 0.46
Cerebellar Nuclei4.81 ± 0.45
Claustrum5.18 ± 0.43
Epithalamus4.72 ± 0.82
Frontal Lobe5 ± 0.44
Globus Pallidus3.69 ± 0.84
Hypothalamus4.36 ± 0.5
Insula5.12 ± 0.27
Limbic Lobe5 ± 0.52
Mesencephalon4.8 ± 0.67
Myelencephalon4.82 ± 0.62
Occipital Lobe4.76 ± 0.71
Parietal Lobe5.1 ± 0.55
Pontine Tegmentum4.89 ± 0.6
Striatum4.03 ± 0.7
Subthalamus4.62 ± 0.28
Temporal Lobe5.05 ± 0.4
Thalamus4.84 ± 0.55
White Matter3.11 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Atp6v1c1CBCerebellum100
100
Atp6v1c1CTXCerebral cortex100
100
Atp6v1c1HIPHippocampal region100
100
Atp6v1c1HPFHippocampal formation100
100
Atp6v1c1HYHypothalamus100
100
Atp6v1c1LSXLateral septal complex100
100
Atp6v1c1MBMidbrain100
100
Atp6v1c1MYMedulla100
100
Atp6v1c1OLFOlfactory bulb100
100
Atp6v1c1PPons100
100
Atp6v1c1PALPallidum100
100
Atp6v1c1RHPRetrohippocampal region100
100
Atp6v1c1sAMYStriatum-like amygdalar nuclei100
100
Atp6v1c1STRStriatum100
100
Atp6v1c1STRdStriatum dorsal region100
100
Atp6v1c1STRvStriatum ventral region100
100
Atp6v1c1THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00007455 20 212 231 SSNVLSEDQDSYLCNVTLFR Peptide Atlas
VATC1_HUMAN_200 12 200 211 QYETLAEMVVPR 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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