AutismKB 2.0

Annotation Detail for VHL


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Basic Information Top
Gene Symbol:VHL ( HRCA1,RCA1,VHL1 )
Gene Full Name: von Hippel-Lindau tumor suppressor
Band: 3p25.3
Quick LinksEntrez ID:7428; OMIM: 608537; Uniprot ID:VHL_HUMAN; ENSEMBL ID: ENSG00000134086; HGNC ID: 12687
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
fetus16 / 56401228
neonate0 / 310970 
infant0 / 236200 
juvenile4 / 5555671
adult53 / 193912127
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 tumor1 / 3436629
chondrosarcoma1 / 8282312
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor9 / 26384534
glioma4 / 10688337
head and neck tumor8 / 13630258
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor5 / 9635951
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia0 / 972500 
normal76 / 336030722
ovarian tumor1 / 7668213
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain18 / 110098916
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye2 / 2110549
heart2 / 8962622
intestine5 / 23447221
kidney2 / 2117779
larynx0 / 241450 
liver6 / 20774328
lung5 / 33697414
lymph1 / 4427022
lymph node1 / 9161010
mammary gland6 / 15327139
mouth5 / 6705274
muscle7 / 10771564
nerve0 / 157680 
ovary1 / 1020519
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta18 / 28082564
prostate4 / 18934521
salivary gland3 / 20155148
skin1 / 2105744
spleen2 / 5395237
stomach2 / 9661920
testis2 / 3304426
thymus1 / 8113112
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord2 / 13680146
uterus1 / 2328784
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203844_at
Cell line Expression level Expression bar
721_B_lymphoblasts11.35
Adipocyte10
AdrenalCortex14.45
Adrenalgland9.65
Amygdala9.8
Appendix14.65
AtrioventricularNode10.8
BDCA4+_DentriticCells10.2
Bonemarrow11.8
BronchialEpithelialCells9.25
CD105+_Endothelial10.15
CD14+_Monocytes11.35
CD19+_BCells(neg._sel.)10.7
CD33+_Myeloid12.65
CD34+11.9
CD4+_Tcells10.35
CD56+_NKCells12.6
CD71+_EarlyErythroid10.4
CD8+_Tcells9.45
CardiacMyocytes24.8
Caudatenucleus9.05
Cerebellum8.35
CerebellumPeduncles13.65
CiliaryGanglion9.35
CingulateCortex11
Colorectaladenocarcinoma10.1
DorsalRootGanglion9.65
FetalThyroid12.35
Fetalbrain9.5
Fetalliver9.1
Fetallung6.75
GlobusPallidus9
Heart20.8
Hypothalamus9.9
Kidney9.95
Leukemia_chronicMyelogenousK-5628.8
Leukemia_promyelocytic-HL-608.65
Leukemialymphoblastic(MOLT-4)7.7
Liver15.25
Lung10.8
Lymphnode8.05
Lymphoma_burkitts(Daudi)13.9
Lymphoma_burkitts(Raji)16.75
MedullaOblongata8.4
OccipitalLobe8.85
OlfactoryBulb7.55
Ovary7.8
Pancreas8.75
PancreaticIslet11.15
ParietalLobe11.8
Pituitary11.55
Placenta9.25
Pons10.3
PrefrontalCortex11.6
Prostate11.3
Salivarygland11.1
SkeletalMuscle19.45
Skin10.2
SmoothMuscle11.45
Spinalcord10.35
SubthalamicNucleus9.8
SuperiorCervicalGanglion22.7
TemporalLobe9.85
Testis8.65
TestisGermCell7.5
TestisIntersitial8.9
TestisLeydigCell10.9
TestisSeminiferousTubule8.7
Thalamus11.05
Thymus7.1
Thyroid11.6
Tongue13.2
Tonsil10.35
Trachea8.3
TrigeminalGanglion15.9
Uterus7.8
UterusCorpus10
WholeBlood10.6
Wholebrain7.55
colon10.35
pineal_day12.4
pineal_night12.5
retina12.625
small_intestine9.7
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16025_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
Amygdala5.96 ± 0.25
Basal Forebrain5.62 ± 0.27
Basal Part of Pons5.21 ± 0.29
Cerebellar Cortex6.02 ± 0.26
Cerebellar Nuclei5.34 ± 0.42
Claustrum5.42 ± 0.51
Epithalamus5.82 ± 0.51
Frontal Lobe5.61 ± 0.4
Globus Pallidus5.02 ± 0.48
Hypothalamus5.69 ± 0.38
Insula5.64 ± 0.28
Limbic Lobe5.77 ± 0.41
Mesencephalon5.51 ± 0.49
Myelencephalon5.61 ± 0.45
Occipital Lobe5.64 ± 0.41
Parietal Lobe5.59 ± 0.51
Pontine Tegmentum5.67 ± 0.48
Striatum5.36 ± 0.36
Subthalamus5.11 ± 0.49
Temporal Lobe5.78 ± 0.37
Thalamus5.38 ± 0.54
White Matter5.95 ± 0.11
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
VhlhCBCerebellum11.21
12.49
VhlhCTXCerebral cortex10.99
8.14
VhlhHIPHippocampal region9.54
9.85
VhlhHPFHippocampal formation7.2
6.7
VhlhHYHypothalamus1.72
1.24
VhlhLSXLateral septal complex5.13
4.26
VhlhMBMidbrain8.33
8.42
VhlhMYMedulla4.45
4.32
VhlhOLFOlfactory bulb16.13
12.7
VhlhPPons5.03
5.25
VhlhPALPallidum2.14
1.62
VhlhRHPRetrohippocampal region2.9
2.1
VhlhsAMYStriatum-like amygdalar nuclei0.83
0.75
VhlhSTRStriatum4.52
3.75
VhlhSTRdStriatum dorsal region2.78
2.01
VhlhSTRvStriatum ventral region12.32
10.57
VhlhTHThalamus5.86
5.21
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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