AutismKB 2.0

Annotation Detail for VPS13C


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Basic Information Top
Gene Symbol:VPS13C ( DKFZp686E0570,FLJ21361 )
Gene Full Name: vacuolar protein sorting 13 homolog C (S. cerevisiae)
Band: 15q22.2
Quick LinksEntrez ID:54832; OMIM: 608879; Uniprot ID:VP13C_HUMAN; ENSEMBL ID: ENSG00000129003; HGNC ID: 23594
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 body1 / 7076114
blastocyst1 / 6231916
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile3 / 5555653
adult118 / 193912160
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) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor6 / 11424652
esophageal tumor2 / 17290115
gastrointestinal tumor4 / 11936933
germ cell tumor6 / 26384522
glioma4 / 10688337
head and neck tumor6 / 13630244
kidney tumor1 / 6895914
leukemia13 / 95842135
liver tumor3 / 9635931
lung tumor1 / 1031279
lymphoma5 / 7175569
non-neoplasia9 / 9725092
normal176 / 336030752
ovarian tumor2 / 7668226
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma4 / 4635686
skin tumor2 / 12494916
soft tissue/muscle tissue tumor13 / 125191103
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder3 / 29757100
blood5 / 12347840
bone3 / 7165541
bone marrow3 / 4880161
brain60 / 110098954
cervix1 / 4817120
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus2 / 2020998
eye11 / 21105452
heart4 / 8962644
intestine10 / 23447242
kidney8 / 21177737
larynx0 / 241450 
liver5 / 20774324
lung31 / 33697491
lymph1 / 4427022
lymph node20 / 91610218
mammary gland6 / 15327139
mouth3 / 6705244
muscle9 / 10771583
nerve2 / 15768126
ovary2 / 10205119
pancreas11 / 21481251
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland0 / 165850 
placenta11 / 28082539
prostate4 / 18934521
salivary gland0 / 201550 
skin3 / 21057414
spleen3 / 5395255
stomach7 / 9661972
testis11 / 33044233
thymus5 / 8113161
thyroid4 / 4747384
tonsil0 / 169990 
trachea10 / 52413190
umbilical cord0 / 136800 
uterus17 / 23287872
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218396_at
Cell line Expression level Expression bar
721_B_lymphoblasts263.75
Adipocyte47.45
AdrenalCortex44.1
Adrenalgland32.3
Amygdala70.7
Appendix69.7
AtrioventricularNode40
BDCA4+_DentriticCells403.15
Bonemarrow25.95
BronchialEpithelialCells27.05
CD105+_Endothelial87.55
CD14+_Monocytes323.5
CD19+_BCells(neg._sel.)349.75
CD33+_Myeloid481.85
CD34+375.7
CD4+_Tcells586.1
CD56+_NKCells499.2
CD71+_EarlyErythroid25.6
CD8+_Tcells669.9
CardiacMyocytes36.7
Caudatenucleus32.75
Cerebellum22.85
CerebellumPeduncles25.65
CiliaryGanglion27.25
CingulateCortex34.35
Colorectaladenocarcinoma30.75
DorsalRootGanglion34.1
FetalThyroid46.4
Fetalbrain89.2
Fetalliver28.55
Fetallung74.85
GlobusPallidus22.6
Heart13.8
Hypothalamus80.4
Kidney32
Leukemia_chronicMyelogenousK-56232.35
Leukemia_promyelocytic-HL-60105.7
Leukemialymphoblastic(MOLT-4)46
Liver22.05
Lung29.5
Lymphnode227.7
Lymphoma_burkitts(Daudi)119.9
Lymphoma_burkitts(Raji)121.25
MedullaOblongata30.7
OccipitalLobe48.2
OlfactoryBulb55.35
Ovary33.45
Pancreas32.65
PancreaticIslet82.8
ParietalLobe45
Pituitary98.15
Placenta12.6
Pons33.15
PrefrontalCortex70.7
Prostate45.75
Salivarygland146.15
SkeletalMuscle58.35
Skin34.95
SmoothMuscle44.25
Spinalcord69.85
SubthalamicNucleus33.9
SuperiorCervicalGanglion36.25
TemporalLobe21.6
Testis10.95
TestisGermCell43.2
TestisIntersitial29.85
TestisLeydigCell33.95
TestisSeminiferousTubule29.35
Thalamus42.8
Thymus26.45
Thyroid167.65
Tongue38.3
Tonsil120.05
Trachea61.5
TrigeminalGanglion44.4
Uterus138.65
UterusCorpus43.9
WholeBlood169
Wholebrain14.55
colon151.75
pineal_day190.18
pineal_night149.02
retina96.6
small_intestine143.25
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_193_PI416573500
  • 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
Amygdala8.46 ± 0.25
Basal Forebrain8.56 ± 0.12
Basal Part of Pons8.65 ± 0.2
Cerebellar Cortex8.59 ± 0.19
Cerebellar Nuclei8.66 ± 0.13
Claustrum8.8 ± 0.23
Epithalamus8.72 ± 0.2
Frontal Lobe8.48 ± 0.23
Globus Pallidus8.78 ± 0.11
Hypothalamus8.51 ± 0.24
Insula8.49 ± 0.22
Limbic Lobe8.55 ± 0.25
Mesencephalon8.54 ± 0.24
Myelencephalon8.52 ± 0.2
Occipital Lobe8.68 ± 0.2
Parietal Lobe8.5 ± 0.23
Pontine Tegmentum8.48 ± 0.27
Striatum8.44 ± 0.27
Subthalamus8.46 ± 0.08
Temporal Lobe8.5 ± 0.19
Thalamus8.58 ± 0.18
White Matter9.53 ± 0.29
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Vps13cCBCerebellum0.14
0.43
Vps13cCTXCerebral cortex0.15
0.18
Vps13cHIPHippocampal region2.68
2.29
Vps13cHPFHippocampal formation1.69
1.36
Vps13cHYHypothalamus0.13
0.21
Vps13cLSXLateral septal complex0.06
0.05
Vps13cMBMidbrain0.04
0.07
Vps13cMYMedulla2.4
3.39
Vps13cOLFOlfactory bulb0.36
0.27
Vps13cPPons0.15
0.17
Vps13cPALPallidum0.21
0.19
Vps13cRHPRetrohippocampal region0.09
0.13
Vps13csAMYStriatum-like amygdalar nuclei0.07
0.1
Vps13cSTRStriatum0.11
0.1
Vps13cSTRdStriatum dorsal region0.12
0.12
Vps13cSTRvStriatum ventral region0.11
0.08
Vps13cTHThalamus0.42
0.43
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00025972 19 1323 1341 ILTENLCEGTEDLDKVKPR Peptide Atlas
VP13C_HUMAN_1407 11 1407 1417 NTLTTGVEEIR PRIDE
VP13C_HUMAN_2 12 2 13 VLESVVADLLNR 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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