AutismKB 2.0

Annotation Detail for VPS13B


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Basic Information Top
Gene Symbol:VPS13B ( CHS1,COH1,DKFZp313I0811,KIAA0532 )
Gene Full Name: vacuolar protein sorting 13 homolog B (yeast)
Band: 8q22.2
Quick LinksEntrez ID:157680; OMIM: 607817; Uniprot ID:VP13B_HUMAN; ENSEMBL ID: ENSG00000132549; HGNC ID: 2183
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
blastocyst2 / 6231932
fetus26 / 56401246
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult103 / 193912153
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) tumor4 / 9417842
cervical tumor3 / 3436687
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor5 / 26384518
glioma2 / 10688318
head and neck tumor13 / 13630295
kidney tumor4 / 6895958
leukemia7 / 9584273
liver tumor2 / 9635920
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia1 / 9725010
normal118 / 336030735
ovarian tumor1 / 7668213
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer23 / 102680223
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood7 / 12347856
bone1 / 7165513
bone marrow0 / 488010 
brain33 / 110098929
cervix3 / 4817162
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye2 / 2110549
heart2 / 8962622
intestine6 / 23447225
kidney5 / 21177723
larynx3 / 24145124
liver5 / 20774324
lung3 / 3369748
lymph0 / 442700 
lymph node2 / 9161021
mammary gland13 / 15327184
mouth3 / 6705244
muscle6 / 10771555
nerve1 / 1576863
ovary2 / 10205119
pancreas3 / 21481213
parathyroid2 / 2053997
pharynx2 / 4132848
pituitary gland2 / 16585120
placenta3 / 28082510
prostate23 / 189345121
salivary gland0 / 201550 
skin5 / 21057423
spleen0 / 539520 
stomach0 / 966190 
testis15 / 33044245
thymus6 / 8113173
thyroid5 / 47473105
tonsil0 / 169990 
trachea4 / 5241376
umbilical cord0 / 136800 
uterus6 / 23287825
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213243_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.45
Adipocyte6.4
AdrenalCortex6.3
Adrenalgland4.85
Amygdala8.9
Appendix6.95
AtrioventricularNode4.35
BDCA4+_DentriticCells14.35
Bonemarrow5.65
BronchialEpithelialCells5.4
CD105+_Endothelial8
CD14+_Monocytes6.25
CD19+_BCells(neg._sel.)27.25
CD33+_Myeloid26
CD34+31.05
CD4+_Tcells46.65
CD56+_NKCells50.8
CD71+_EarlyErythroid5.4
CD8+_Tcells57.65
CardiacMyocytes6.95
Caudatenucleus5.1
Cerebellum4.55
CerebellumPeduncles6.6
CiliaryGanglion4.1
CingulateCortex5.7
Colorectaladenocarcinoma5.05
DorsalRootGanglion4.5
FetalThyroid5.8
Fetalbrain7.95
Fetalliver4.65
Fetallung5.1
GlobusPallidus4.15
Heart7.2
Hypothalamus12.1
Kidney4.65
Leukemia_chronicMyelogenousK-5624.95
Leukemia_promyelocytic-HL-604.65
Leukemialymphoblastic(MOLT-4)5.55
Liver7.5
Lung6
Lymphnode10
Lymphoma_burkitts(Daudi)6.85
Lymphoma_burkitts(Raji)7.6
MedullaOblongata5.2
OccipitalLobe5.3
OlfactoryBulb6.45
Ovary3.95
Pancreas4.55
PancreaticIslet6
ParietalLobe6.05
Pituitary6.75
Placenta4.95
Pons5.45
PrefrontalCortex10
Prostate11.45
Salivarygland4.5
SkeletalMuscle6.7
Skin4.5
SmoothMuscle6.5
Spinalcord6.5
SubthalamicNucleus5.3
SuperiorCervicalGanglion6.75
TemporalLobe5.15
Testis4.55
TestisGermCell6.2
TestisIntersitial4.5
TestisLeydigCell5.65
TestisSeminiferousTubule4.6
Thalamus5.7
Thymus6.2
Thyroid7.45
Tongue5.6
Tonsil5.55
Trachea4.45
TrigeminalGanglion6.05
Uterus28.95
UterusCorpus5.15
WholeBlood12.05
Wholebrain4.8
colon7.75
pineal_day27.4
pineal_night19.52
retina7.2
small_intestine12.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_14260_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
Amygdala5.17 ± 0.52
Basal Forebrain5.04 ± 0.24
Basal Part of Pons4.87 ± 0.34
Cerebellar Cortex5.42 ± 0.26
Cerebellar Nuclei4.83 ± 0.4
Claustrum4.72 ± 0.72
Epithalamus5.14 ± 0.49
Frontal Lobe4.97 ± 0.36
Globus Pallidus4.99 ± 0.45
Hypothalamus4.9 ± 0.45
Insula5.2 ± 0.82
Limbic Lobe5.03 ± 0.47
Mesencephalon5.09 ± 0.5
Myelencephalon4.99 ± 0.51
Occipital Lobe5.24 ± 0.34
Parietal Lobe5 ± 0.47
Pontine Tegmentum4.98 ± 0.45
Striatum4.95 ± 0.45
Subthalamus4.85 ± 0.25
Temporal Lobe5.03 ± 0.48
Thalamus4.94 ± 0.46
White Matter5.48 ± 0.29
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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