AutismKB 2.0

Annotation Detail for VPS54


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Basic Information Top
Gene Symbol:VPS54 ( HCC8,SLP-8p,VPS54L,hVps54L )
Gene Full Name: vacuolar protein sorting 54 homolog (S. cerevisiae)
Band: 2p15-p14
Quick LinksEntrez ID:51542; OMIM: NA; Uniprot ID:VPS54_HUMAN; ENSEMBL ID: ENSG00000143952; HGNC ID: 18652
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
blastocyst3 / 6231948
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult70 / 193912136
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor4 / 11424635
esophageal tumor2 / 17290115
gastrointestinal tumor2 / 11936916
germ cell tumor8 / 26384530
glioma1 / 1068839
head and neck tumor7 / 13630251
kidney tumor2 / 6895929
leukemia1 / 9584210
liver tumor5 / 9635951
lung tumor4 / 10312738
lymphoma3 / 7175541
non-neoplasia4 / 9725041
normal87 / 336030725
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS7 / 12568055
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites1 / 4001524
bladder2 / 2975767
blood3 / 12347824
bone4 / 7165555
bone marrow0 / 488010 
brain22 / 110098919
cervix0 / 481710 
connective tissue5 / 14925533
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus2 / 2020998
eye4 / 21105418
heart0 / 896260 
intestine8 / 23447234
kidney7 / 21177733
larynx1 / 2414541
liver6 / 20774328
lung14 / 33697441
lymph1 / 4427022
lymph node5 / 9161054
mammary gland5 / 15327132
mouth5 / 6705274
muscle1 / 1077159
nerve1 / 1576863
ovary4 / 10205139
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta7 / 28082524
prostate4 / 18934521
salivary gland1 / 2015549
skin2 / 2105749
spleen3 / 5395255
stomach1 / 9661910
testis10 / 33044230
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus8 / 23287834
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218423_x_at
Cell line Expression level Expression bar
721_B_lymphoblasts23.35
Adipocyte16.2
AdrenalCortex18.45
Adrenalgland13.75
Amygdala16.4
Appendix16.55
AtrioventricularNode19.7
BDCA4+_DentriticCells24.45
Bonemarrow16.35
BronchialEpithelialCells16.45
CD105+_Endothelial17
CD14+_Monocytes18.45
CD19+_BCells(neg._sel.)22.1
CD33+_Myeloid73.9
CD34+67.05
CD4+_Tcells36.45
CD56+_NKCells20.35
CD71+_EarlyErythroid16.05
CD8+_Tcells31.65
CardiacMyocytes20.85
Caudatenucleus14.3
Cerebellum13.3
CerebellumPeduncles18.4
CiliaryGanglion16.7
CingulateCortex16.1
Colorectaladenocarcinoma28.95
DorsalRootGanglion13.6
FetalThyroid16.9
Fetalbrain15.9
Fetalliver19.55
Fetallung25.5
GlobusPallidus12
Heart21.3
Hypothalamus17.5
Kidney13.45
Leukemia_chronicMyelogenousK-56233.9
Leukemia_promyelocytic-HL-6014.35
Leukemialymphoblastic(MOLT-4)21.25
Liver24.2
Lung17.95
Lymphnode24.25
Lymphoma_burkitts(Daudi)25.1
Lymphoma_burkitts(Raji)22.5
MedullaOblongata14.75
OccipitalLobe14.5
OlfactoryBulb12.85
Ovary12.9
Pancreas24.6
PancreaticIslet22.95
ParietalLobe16.75
Pituitary36.5
Placenta16.45
Pons15.25
PrefrontalCortex19.7
Prostate34.05
Salivarygland33.8
SkeletalMuscle19.75
Skin14.05
SmoothMuscle20.5
Spinalcord17.65
SubthalamicNucleus15.3
SuperiorCervicalGanglion20.3
TemporalLobe14.55
Testis13.5
TestisGermCell32.25
TestisIntersitial27.7
TestisLeydigCell19.4
TestisSeminiferousTubule19
Thalamus16.2
Thymus12.55
Thyroid45.3
Tongue20.15
Tonsil22.7
Trachea14.5
TrigeminalGanglion18.1
Uterus47.75
UterusCorpus16.7
WholeBlood17.75
Wholebrain12.55
colon18.35
pineal_day23.58
pineal_night27.26
retina19.825
small_intestine15.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P199929
  • 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
Amygdala4.36 ± 0.55
Basal Forebrain4.47 ± 0.18
Basal Part of Pons3.97 ± 0.41
Cerebellar Cortex4.66 ± 0.21
Cerebellar Nuclei4.4 ± 0.42
Claustrum4.07 ± 0.65
Epithalamus4.37 ± 0.41
Frontal Lobe4.06 ± 0.47
Globus Pallidus4.38 ± 0.55
Hypothalamus4.2 ± 0.52
Insula3.99 ± 0.48
Limbic Lobe4.11 ± 0.49
Mesencephalon4.4 ± 0.52
Myelencephalon4.2 ± 0.51
Occipital Lobe4.47 ± 0.39
Parietal Lobe4.21 ± 0.51
Pontine Tegmentum4.17 ± 0.6
Striatum4.2 ± 0.56
Subthalamus3.91 ± 0.22
Temporal Lobe4.1 ± 0.58
Thalamus4.26 ± 0.51
White Matter5.26 ± 0.14
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Vps54CBCerebellum0.1
0.17
Vps54CTXCerebral cortex21.09
15.11
Vps54HIPHippocampal region16.92
17.24
Vps54HPFHippocampal formation13.64
12.84
Vps54HYHypothalamus2.87
2.03
Vps54LSXLateral septal complex6.15
3.84
Vps54MBMidbrain0.45
0.51
Vps54MYMedulla0.23
1.06
Vps54OLFOlfactory bulb15.19
14.41
Vps54PPons0.67
1.31
Vps54PALPallidum7.93
5.97
Vps54RHPRetrohippocampal region4.78
4.02
Vps54sAMYStriatum-like amygdalar nuclei27.02
19.88
Vps54STRStriatum14.53
9.81
Vps54STRdStriatum dorsal region15.11
9.9
Vps54STRvStriatum ventral region10.19
6.62
Vps54THThalamus8.76
7.45
Peptide Top

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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