AutismKB 2.0

Annotation Detail for AVIL


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Basic Information Top
Gene Symbol:AVIL ( ADVIL,DKFZp779O1812,DOC6,FLJ12386,MGC133244,p92 )
Gene Full Name: advillin
Band: 12q14.1
Quick LinksEntrez ID:10677; OMIM: 613397; Uniprot ID:AVIL_HUMAN; ENSEMBL ID: ENSG00000135407; HGNC ID: 14188
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 
fetus7 / 56401212
neonate0 / 310970 
infant0 / 236200 
juvenile2 / 5555635
adult26 / 193912113
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor1 / 2638453
glioma3 / 10688328
head and neck tumor2 / 13630214
kidney tumor0 / 689590 
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal33 / 33603079
ovarian tumor6 / 7668278
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor8 / 12519163
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood0 / 1234780 
bone1 / 7165513
bone marrow0 / 488010 
brain10 / 11009899
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye0 / 2110540 
heart1 / 8962611
intestine3 / 23447212
kidney2 / 2117779
larynx0 / 241450 
liver0 / 2077430 
lung5 / 33697414
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth1 / 6705214
muscle9 / 10771583
nerve2 / 15768126
ovary6 / 10205158
pancreas9 / 21481241
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland2 / 16585120
placenta1 / 2808253
prostate2 / 18934510
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis1 / 3304423
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus4 / 23287817
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210507_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts10.35
Adipocyte9.1
AdrenalCortex13.65
Adrenalgland8.4
Amygdala8.65
Appendix10.4
AtrioventricularNode21.85
BDCA4+_DentriticCells9.1
Bonemarrow10
BronchialEpithelialCells8.3
CD105+_Endothelial8.65
CD14+_Monocytes10.05
CD19+_BCells(neg._sel.)9.7
CD33+_Myeloid11
CD34+11.2
CD4+_Tcells9.15
CD56+_NKCells10.3
CD71+_EarlyErythroid8.95
CD8+_Tcells8.3
CardiacMyocytes14.65
Caudatenucleus8.65
Cerebellum7.4
CerebellumPeduncles13.05
CiliaryGanglion15.25
CingulateCortex12.2
Colorectaladenocarcinoma9.25
DorsalRootGanglion28.45
FetalThyroid9.55
Fetalbrain9.55
Fetalliver8.15
Fetallung6.3
GlobusPallidus8.6
Heart20.6
Hypothalamus9.45
Kidney9.05
Leukemia_chronicMyelogenousK-5628.2
Leukemia_promyelocytic-HL-608
Leukemialymphoblastic(MOLT-4)7.15
Liver13.8
Lung9.5
Lymphnode7.7
Lymphoma_burkitts(Daudi)12.15
Lymphoma_burkitts(Raji)14.05
MedullaOblongata9.35
OccipitalLobe8.3
OlfactoryBulb8.7
Ovary6.65
Pancreas7.5
PancreaticIslet10.05
ParietalLobe12.35
Pituitary11.55
Placenta8.45
Pons9.5
PrefrontalCortex10.55
Prostate9.8
Salivarygland8.2
SkeletalMuscle16.75
Skin13.2
SmoothMuscle10.25
Spinalcord10.2
SubthalamicNucleus21.4
SuperiorCervicalGanglion15.55
TemporalLobe8.75
Testis7.5
TestisGermCell7.2
TestisIntersitial8.85
TestisLeydigCell9.75
TestisSeminiferousTubule8.15
Thalamus16.25
Thymus6.55
Thyroid10.25
Tongue12.95
Tonsil9.25
Trachea7.7
TrigeminalGanglion17.05
Uterus7.05
UterusCorpus10.25
WholeBlood9.7
Wholebrain6.65
colon8.35
pineal_day10.92
pineal_night11.26
retina11.15
small_intestine8.8
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P419087
  • 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
Amygdala3.56 ± 0.73
Basal Forebrain3.08 ± 0.12
Basal Part of Pons3.18 ± 0.62
Cerebellar Cortex4.12 ± 0.37
Cerebellar Nuclei3.04 ± 0.46
Claustrum3.05 ± 0.61
Epithalamus3.51 ± 0.24
Frontal Lobe3.45 ± 0.57
Globus Pallidus3.35 ± 0.87
Hypothalamus3 ± 0.52
Insula3.49 ± 0.54
Limbic Lobe3.69 ± 0.67
Mesencephalon3.42 ± 0.74
Myelencephalon3.53 ± 0.66
Occipital Lobe3.78 ± 0.39
Parietal Lobe3.42 ± 0.64
Pontine Tegmentum3.57 ± 0.58
Striatum4.18 ± 0.83
Subthalamus3.46 ± 0.15
Temporal Lobe3.4 ± 0.54
Thalamus3.54 ± 0.6
White Matter3.75 ± 0.71
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
AvilCBCerebellum1.67
1.86
AvilCTXCerebral cortex3.08
2.34
AvilHIPHippocampal region3.18
3.71
AvilHPFHippocampal formation2.41
2.53
AvilHYHypothalamus0.96
0.86
AvilLSXLateral septal complex0.26
0.22
AvilMBMidbrain0.65
1.1
AvilMYMedulla2.1
2.77
AvilOLFOlfactory bulb4.46
3.5
AvilPPons0.43
1.1
AvilPALPallidum0.45
0.33
AvilRHPRetrohippocampal region1.22
1.06
AvilsAMYStriatum-like amygdalar nuclei0.22
0.19
AvilSTRStriatum0.85
0.61
AvilSTRdStriatum dorsal region0.91
0.64
AvilSTRvStriatum ventral region1.05
0.67
AvilTHThalamus0.74
0.8
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
AVIL_HUMAN_737 20 737 756 ITADMKNATLSLNSNDSEPK PRIDE
PAp00375466 9 116 124 QGGVASGMK Peptide Atlas

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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