AutismKB 2.0

Annotation Detail for VWF


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Basic Information Top
Gene Symbol:VWF ( F8VWF,VWD )
Gene Full Name: von Willebrand factor
Band: 12p13.31
Quick LinksEntrez ID:7450; OMIM: 613160; Uniprot ID:VWF_HUMAN; ENSEMBL ID: ENSG00000110799; HGNC ID: 12726
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 body0 / 707610 
blastocyst0 / 623190 
fetus47 / 56401283
neonate37 / 310971189
infant0 / 236200 
juvenile4 / 5555671
adult245 / 1939121126
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor11 / 94178116
cervical tumor0 / 343660 
chondrosarcoma10 / 82823120
colorectal tumor7 / 11424661
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor4 / 26384515
glioma2 / 10688318
head and neck tumor7 / 13630251
kidney tumor5 / 6895972
leukemia1 / 9584210
liver tumor2 / 9635920
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia12 / 97250123
normal351 / 3360307104
ovarian tumor5 / 7668265
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue11 / 13106839
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone4 / 7165555
bone marrow0 / 488010 
brain63 / 110098957
cervix0 / 481710 
connective tissue15 / 149255100
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus1 / 2020949
eye20 / 21105494
heart17 / 89626189
intestine18 / 23447276
kidney11 / 21177751
larynx2 / 2414582
liver2 / 2077439
lung42 / 336974124
lymph0 / 442700 
lymph node0 / 916100 
mammary gland18 / 153271117
mouth4 / 6705259
muscle7 / 10771564
nerve7 / 15768443
ovary7 / 10205168
pancreas5 / 21481223
parathyroid0 / 205390 
pharynx6 / 41328145
pituitary gland0 / 165850 
placenta63 / 280825224
prostate10 / 18934552
salivary gland0 / 201550 
skin2 / 2105749
spleen21 / 53952389
stomach9 / 9661993
testis12 / 33044236
thymus3 / 8113136
thyroid10 / 47473210
tonsil0 / 169990 
trachea7 / 52413133
umbilical cord55 / 136804020
uterus23 / 23287898
vascular15 / 51780289
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202112_at
Cell line Expression level Expression bar
721_B_lymphoblasts9.65
Adipocyte14.35
AdrenalCortex15.3
Adrenalgland23.7
Amygdala37.5
Appendix411.85
AtrioventricularNode18.15
BDCA4+_DentriticCells8.05
Bonemarrow15.15
BronchialEpithelialCells12.75
CD105+_Endothelial7.1
CD14+_Monocytes7.6
CD19+_BCells(neg._sel.)10.2
CD33+_Myeloid10.85
CD34+17.85
CD4+_Tcells12.8
CD56+_NKCells8.15
CD71+_EarlyErythroid6.8
CD8+_Tcells6.9
CardiacMyocytes17.95
Caudatenucleus54.35
Cerebellum16.65
CerebellumPeduncles22.55
CiliaryGanglion53.95
CingulateCortex20.3
Colorectaladenocarcinoma14.3
DorsalRootGanglion30.8
FetalThyroid222.4
Fetalbrain17.25
Fetalliver12.45
Fetallung290.75
GlobusPallidus12.2
Heart654.7
Hypothalamus49.3
Kidney12.4
Leukemia_chronicMyelogenousK-56213.15
Leukemia_promyelocytic-HL-6012.8
Leukemialymphoblastic(MOLT-4)11.5
Liver18.95
Lung2982.95
Lymphnode401.35
Lymphoma_burkitts(Daudi)17.8
Lymphoma_burkitts(Raji)23.2
MedullaOblongata15.55
OccipitalLobe22.3
OlfactoryBulb88.2
Ovary169.35
Pancreas50.5
PancreaticIslet98.95
ParietalLobe14.85
Pituitary17.35
Placenta652.85
Pons14.1
PrefrontalCortex230.2
Prostate225.2
Salivarygland16.05
SkeletalMuscle19
Skin35.1
SmoothMuscle16.3
Spinalcord91.45
SubthalamicNucleus15.8
SuperiorCervicalGanglion15.8
TemporalLobe15.2
Testis36.65
TestisGermCell133.25
TestisIntersitial59.4
TestisLeydigCell37.4
TestisSeminiferousTubule31.8
Thalamus39.55
Thymus133.25
Thyroid475.6
Tongue16.6
Tonsil24.15
Trachea80
TrigeminalGanglion19.2
Uterus554.3
UterusCorpus51.2
WholeBlood15.75
Wholebrain53.3
colon49.25
pineal_day43.12
pineal_night30.76
retina759.65
small_intestine75.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P150382
  • 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
Amygdala3.08 ± 1
Basal Forebrain2.53 ± 0.65
Basal Part of Pons2.32 ± 0.59
Cerebellar Cortex2.34 ± 0.66
Cerebellar Nuclei3.19 ± 0.72
Claustrum3.05 ± 0.54
Epithalamus2.43 ± 0.95
Frontal Lobe2.6 ± 0.73
Globus Pallidus4.09 ± 0.88
Hypothalamus2.36 ± 0.83
Insula2.1 ± 0.64
Limbic Lobe2.67 ± 0.87
Mesencephalon2.72 ± 0.73
Myelencephalon2.75 ± 0.75
Occipital Lobe2.81 ± 0.87
Parietal Lobe2.64 ± 0.82
Pontine Tegmentum2.92 ± 0.9
Striatum3.37 ± 0.85
Subthalamus2.61 ± 0.89
Temporal Lobe2.55 ± 0.76
Thalamus2.88 ± 0.64
White Matter3.08 ± 0.57
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
VwfCBCerebellum9.19
19.26
VwfCTXCerebral cortex6.77
8.83
VwfHIPHippocampal region5.7
13.16
VwfHPFHippocampal formation5.39
11.95
VwfHYHypothalamus3.32
5.13
VwfLSXLateral septal complex3.03
5.09
VwfMBMidbrain6.35
12.1
VwfMYMedulla12.64
18.59
VwfOLFOlfactory bulb4.76
5.24
VwfPPons9.77
16.57
VwfPALPallidum3.67
5.73
VwfRHPRetrohippocampal region4.8
10.36
VwfsAMYStriatum-like amygdalar nuclei3.76
4.72
VwfSTRStriatum4.17
6.22
VwfSTRdStriatum dorsal region4.25
6.8
VwfSTRvStriatum ventral region4.69
5.41
VwfTHThalamus5.91
10.76
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00044317 16 655 670 GQVYLQCGTPCNLTCR Peptide Atlas
VWF_HUMAN_116 12 116 127 GLYLETEAGYYK PRIDE
VWF_HUMAN_1274 13 1274 1286 LLDLVFLLDGSSR PRIDE
VWF_HUMAN_128 11 128 138 LSGEAYGFVAR PRIDE
VWF_HUMAN_1348 14 1348 1361 YAGSQVASTSEVLK PRIDE
VWF_HUMAN_1362 9 1362 1370 YTLFQIFSK PRIDE
VWF_HUMAN_1617 24 1617 1640 RLPGDIQVVPIGVGPNANVQELER PRIDE
VWF_HUMAN_1641 18 1641 1658 IGWPNAPILIQDFETLPR PRIDE
VWF_HUMAN_1779 15 1779 1793 YLTSEMHGARPGASK PRIDE
VWF_HUMAN_1819 18 1819 1836 VTVFPIGIGDRYDAAQLR PRIDE
VWF_HUMAN_1837 13 1837 1849 ILAGPAGDSNVVK PRIDE
VWF_HUMAN_1853 17 1853 1869 IEDLPTMVTLGNSFLHK PRIDE
VWF_HUMAN_1967 13 1967 1979 LTGSCSYVLFQNK PRIDE
VWF_HUMAN_402 14 402 415 YFTFSGICQYLLAR PRIDE
VWF_HUMAN_578 19 578 596 FSEEACAVLTSPTFEACHR PRIDE
VWF_HUMAN_944 16 944 959 RPMKDETHFEVVESGR 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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