AutismKB 2.0

Annotation Detail for VPS13A


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Basic Information Top
Gene Symbol:VPS13A ( CHAC,CHOREIN,FLJ42030,KIAA0986 )
Gene Full Name: vacuolar protein sorting 13 homolog A (S. cerevisiae)
Band: 9q21.2
Quick LinksEntrez ID:23230; OMIM: 605978; Uniprot ID:VP13A_HUMAN; ENSEMBL ID: ENSG00000197969; HGNC ID: 1908
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
blastocyst4 / 6231964
fetus12 / 56401221
neonate1 / 3109732
infant0 / 236200 
juvenile3 / 5555653
adult72 / 193912137
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor4 / 11936933
germ cell tumor5 / 26384518
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor2 / 9635920
lung tumor3 / 10312729
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal117 / 336030734
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer6 / 10268058
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue3 / 13106228
adrenal gland1 / 3319730
ascites2 / 4001549
bladder0 / 297570 
blood2 / 12347816
bone2 / 7165527
bone marrow0 / 488010 
brain18 / 110098916
cervix0 / 481710 
connective tissue6 / 14925540
ear1 / 1621261
embryonic tissue11 / 21572250
esophagus0 / 202090 
eye5 / 21105423
heart0 / 896260 
intestine6 / 23447225
kidney14 / 21177766
larynx0 / 241450 
liver5 / 20774324
lung14 / 33697441
lymph1 / 4427022
lymph node2 / 9161021
mammary gland10 / 15327165
mouth0 / 670520 
muscle7 / 10771564
nerve1 / 1576863
ovary1 / 1020519
pancreas5 / 21481223
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta4 / 28082514
prostate12 / 18934563
salivary gland0 / 201550 
skin2 / 2105749
spleen3 / 5395255
stomach2 / 9661920
testis17 / 33044251
thymus2 / 8113124
thyroid1 / 4747321
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord1 / 1368073
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213686_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.55
Adipocyte4.4
AdrenalCortex6.85
Adrenalgland3.75
Amygdala6.1
Appendix5.55
AtrioventricularNode3.65
BDCA4+_DentriticCells4.95
Bonemarrow4.45
BronchialEpithelialCells4.4
CD105+_Endothelial4.5
CD14+_Monocytes4.7
CD19+_BCells(neg._sel.)4.7
CD33+_Myeloid5.85
CD34+5.7
CD4+_Tcells5.9
CD56+_NKCells5.45
CD71+_EarlyErythroid4.2
CD8+_Tcells6.5
CardiacMyocytes5.95
Caudatenucleus4.05
Cerebellum3.65
CerebellumPeduncles5.1
CiliaryGanglion3.25
CingulateCortex5.25
Colorectaladenocarcinoma4.8
DorsalRootGanglion3.55
FetalThyroid4.45
Fetalbrain4.35
Fetalliver4.25
Fetallung3.7
GlobusPallidus3.55
Heart5.85
Hypothalamus4.9
Kidney3.85
Leukemia_chronicMyelogenousK-5624.1
Leukemia_promyelocytic-HL-606.95
Leukemialymphoblastic(MOLT-4)4.1
Liver5.9
Lung4.85
Lymphnode3.95
Lymphoma_burkitts(Daudi)5.75
Lymphoma_burkitts(Raji)7.3
MedullaOblongata4.9
OccipitalLobe4.1
OlfactoryBulb3.55
Ovary3.05
Pancreas3.95
PancreaticIslet4.8
ParietalLobe4.75
Pituitary5.3
Placenta4.6
Pons4.55
PrefrontalCortex21.15
Prostate5.2
Salivarygland3.95
SkeletalMuscle5.45
Skin3.55
SmoothMuscle5.1
Spinalcord4.75
SubthalamicNucleus4.45
SuperiorCervicalGanglion10.15
TemporalLobe4.2
Testis3.85
TestisGermCell3.75
TestisIntersitial3.75
TestisLeydigCell4.45
TestisSeminiferousTubule3.85
Thalamus4.5
Thymus3.55
Thyroid5.75
Tongue5.05
Tonsil4.4
Trachea3.75
TrigeminalGanglion6.35
Uterus3.95
UterusCorpus4.3
WholeBlood4.9
Wholebrain3.85
colon4.5
pineal_day5.66
pineal_night5.5
retina5.475
small_intestine4.35
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_8975_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
Amygdala5.51 ± 0.5
Basal Forebrain4.86 ± 0.43
Basal Part of Pons5.51 ± 0.4
Cerebellar Cortex5.74 ± 0.16
Cerebellar Nuclei4.73 ± 0.37
Claustrum5.18 ± 0.61
Epithalamus5.16 ± 0.36
Frontal Lobe5.32 ± 0.47
Globus Pallidus4.18 ± 0.41
Hypothalamus5.12 ± 0.41
Insula5.21 ± 0.42
Limbic Lobe5.52 ± 0.53
Mesencephalon5.13 ± 0.49
Myelencephalon5.23 ± 0.51
Occipital Lobe5.66 ± 0.38
Parietal Lobe5.44 ± 0.57
Pontine Tegmentum5.27 ± 0.56
Striatum4.96 ± 0.54
Subthalamus5.46 ± 0.45
Temporal Lobe5.38 ± 0.4
Thalamus5.17 ± 0.41
White Matter3.5 ± 0.13
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Vps13aCBCerebellum10.33
10.41
Vps13aCTXCerebral cortex37.68
27.96
Vps13aHIPHippocampal region25.33
31.05
Vps13aHPFHippocampal formation25.65
26.59
Vps13aHYHypothalamus1.71
1.29
Vps13aLSXLateral septal complex0.89
0.63
Vps13aMBMidbrain4.95
4.21
Vps13aMYMedulla9.67
9.46
Vps13aOLFOlfactory bulb12.18
9.37
Vps13aPPons7.91
8.1
Vps13aPALPallidum1.44
1.29
Vps13aRHPRetrohippocampal region26.78
20.69
Vps13asAMYStriatum-like amygdalar nuclei3.17
2.14
Vps13aSTRStriatum2.74
2.07
Vps13aSTRdStriatum dorsal region2.86
2.17
Vps13aSTRvStriatum ventral region2.24
1.77
Vps13aTHThalamus9.38
7.37
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00041907 33 2000 2032 NHFSVPLSVYEGDTLLGTASPENEFNIPLGSYR Peptide Atlas
VP13A_HUMAN_2 12 2 13 VFESVVVDVLNR 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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