AutismKB 2.0

Annotation Detail for VPS13D


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Basic Information Top
Gene Symbol:VPS13D ( FLJ23066 )
Gene Full Name: vacuolar protein sorting 13 homolog D (S. cerevisiae)
Band: 1p36.22-p36.21
Quick LinksEntrez ID:55187; OMIM: 608877; Uniprot ID:VP13D_HUMAN; ENSEMBL ID: ENSG00000048707; HGNC ID: 23595
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
blastocyst3 / 6231948
fetus45 / 56401279
neonate0 / 310970 
infant2 / 2362084
juvenile1 / 5555617
adult224 / 1939121115
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma16 / 82823193
colorectal tumor16 / 114246140
esophageal tumor2 / 17290115
gastrointestinal tumor3 / 11936925
germ cell tumor16 / 26384560
glioma5 / 10688346
head and neck tumor31 / 136302227
kidney tumor2 / 6895929
leukemia9 / 9584293
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia13 / 97250133
normal239 / 336030771
ovarian tumor8 / 76682104
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor32 / 90257354
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood8 / 12347864
bone7 / 7165597
bone marrow2 / 4880140
brain93 / 110098984
cervix0 / 481710 
connective tissue11 / 14925573
ear0 / 162120 
embryonic tissue10 / 21572246
esophagus2 / 2020998
eye19 / 21105490
heart5 / 8962655
intestine25 / 234472106
kidney13 / 21177761
larynx14 / 24145579
liver3 / 20774314
lung25 / 33697474
lymph0 / 442700 
lymph node5 / 9161054
mammary gland10 / 15327165
mouth4 / 6705259
muscle7 / 10771564
nerve1 / 1576863
ovary8 / 10205178
pancreas9 / 21481241
parathyroid3 / 20539146
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta10 / 28082535
prostate10 / 18934552
salivary gland0 / 201550 
skin6 / 21057428
spleen0 / 539520 
stomach5 / 9661951
testis29 / 33044287
thymus7 / 8113186
thyroid15 / 47473315
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord0 / 136800 
uterus48 / 232878206
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212323_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts15
Adipocyte16.2
AdrenalCortex24.35
Adrenalgland14.7
Amygdala19.45
Appendix15.2
AtrioventricularNode30.6
BDCA4+_DentriticCells21.3
Bonemarrow13.5
BronchialEpithelialCells12.55
CD105+_Endothelial29.5
CD14+_Monocytes36.65
CD19+_BCells(neg._sel.)26.8
CD33+_Myeloid26.8
CD34+19.4
CD4+_Tcells49.05
CD56+_NKCells30.6
CD71+_EarlyErythroid13.85
CD8+_Tcells43.25
CardiacMyocytes18
Caudatenucleus17.3
Cerebellum14.5
CerebellumPeduncles18.3
CiliaryGanglion11.95
CingulateCortex29.25
Colorectaladenocarcinoma16
DorsalRootGanglion17.35
FetalThyroid20.25
Fetalbrain15.9
Fetalliver13
Fetallung13.55
GlobusPallidus26.9
Heart24.55
Hypothalamus38.35
Kidney13.75
Leukemia_chronicMyelogenousK-56242.45
Leukemia_promyelocytic-HL-6016.9
Leukemialymphoblastic(MOLT-4)12.5
Liver15.6
Lung14.3
Lymphnode18.15
Lymphoma_burkitts(Daudi)20.7
Lymphoma_burkitts(Raji)27.9
MedullaOblongata22.05
OccipitalLobe25.2
OlfactoryBulb21.95
Ovary17.7
Pancreas12.1
PancreaticIslet25.25
ParietalLobe26.35
Pituitary21.55
Placenta18.35
Pons19.75
PrefrontalCortex37.75
Prostate21.25
Salivarygland16.4
SkeletalMuscle19.75
Skin22.95
SmoothMuscle17.45
Spinalcord25.15
SubthalamicNucleus23.25
SuperiorCervicalGanglion27.05
TemporalLobe17.3
Testis12.55
TestisGermCell13.75
TestisIntersitial14.5
TestisLeydigCell17.55
TestisSeminiferousTubule14.35
Thalamus27.35
Thymus12.55
Thyroid35.45
Tongue23.15
Tonsil19.75
Trachea13.05
TrigeminalGanglion18.4
Uterus29.75
UterusCorpus11.65
WholeBlood11.85
Wholebrain15.9
colon19.4
pineal_day33.64
pineal_night33.38
retina31.175
small_intestine16.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P20582
  • 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
Amygdala6.53 ± 0.67
Basal Forebrain6.42 ± 0.34
Basal Part of Pons6.67 ± 0.3
Cerebellar Cortex6.05 ± 0.29
Cerebellar Nuclei6.1 ± 0.69
Claustrum7.36 ± 0.57
Epithalamus6.75 ± 0.25
Frontal Lobe6.53 ± 0.58
Globus Pallidus6.94 ± 0.21
Hypothalamus6.28 ± 0.48
Insula6.44 ± 0.45
Limbic Lobe6.64 ± 0.46
Mesencephalon6.44 ± 0.64
Myelencephalon6.51 ± 0.55
Occipital Lobe6.8 ± 0.36
Parietal Lobe6.75 ± 0.47
Pontine Tegmentum6.43 ± 0.45
Striatum6.48 ± 0.57
Subthalamus6.45 ± 0.58
Temporal Lobe6.43 ± 0.47
Thalamus6.62 ± 0.46
White Matter6.77 ± 0.45
Mouse Brain ISH
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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