AutismKB 2.0

Annotation Detail for ITGAV


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Basic Information Top
Gene Symbol:ITGAV ( CD51,DKFZp686A08142,MSK8,VNRA )
Gene Full Name: integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51)
Band: 2q32.1
Quick LinksEntrez ID:3685; OMIM: 193210; Uniprot ID:ITAV_HUMAN; ENSEMBL ID: ENSG00000138448; HGNC ID: 6150
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 body32 / 70761452
blastocyst5 / 6231980
fetus33 / 56401258
neonate2 / 3109764
infant0 / 236200 
juvenile2 / 5555635
adult148 / 193912176
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma1 / 1747557
breast (mammary gland) tumor6 / 9417863
cervical tumor8 / 34366232
chondrosarcoma5 / 8282360
colorectal tumor3 / 11424626
esophageal tumor3 / 17290173
gastrointestinal tumor23 / 119369192
germ cell tumor8 / 26384530
glioma6 / 10688356
head and neck tumor10 / 13630273
kidney tumor3 / 6895943
leukemia0 / 958420 
liver tumor7 / 9635972
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia13 / 97250133
normal254 / 336030775
ovarian tumor5 / 7668265
pancreatic tumor8 / 10461676
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor5 / 12494940
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland1 / 3319730
ascites5 / 40015124
bladder10 / 29757336
blood1 / 1234788
bone11 / 71655153
bone marrow1 / 4880120
brain65 / 110098959
cervix8 / 48171166
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue44 / 215722203
esophagus3 / 20209148
eye19 / 21105490
heart7 / 8962678
intestine23 / 23447298
kidney18 / 21177784
larynx2 / 2414582
liver16 / 20774377
lung19 / 33697456
lymph0 / 442700 
lymph node1 / 9161010
mammary gland15 / 15327197
mouth1 / 6705214
muscle12 / 107715111
nerve1 / 1576863
ovary1 / 1020519
pancreas21 / 21481297
parathyroid7 / 20539340
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta25 / 28082589
prostate4 / 18934521
salivary gland0 / 201550 
skin10 / 21057447
spleen0 / 539520 
stomach13 / 96619134
testis17 / 33044251
thymus5 / 8113161
thyroid6 / 47473126
tonsil0 / 169990 
trachea6 / 52413114
umbilical cord0 / 136800 
uterus17 / 23287872
vascular7 / 51780135
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202351_at
Cell line Expression level Expression bar
721_B_lymphoblasts22.2
Adipocyte616
AdrenalCortex183.2
Adrenalgland65.95
Amygdala584.9
Appendix268.3
AtrioventricularNode85.2
BDCA4+_DentriticCells22.8
Bonemarrow24.8
BronchialEpithelialCells544.8
CD105+_Endothelial42.6
CD14+_Monocytes52.65
CD19+_BCells(neg._sel.)19.5
CD33+_Myeloid77.75
CD34+60.2
CD4+_Tcells19.55
CD56+_NKCells50.1
CD71+_EarlyErythroid7.45
CD8+_Tcells25.4
CardiacMyocytes567.15
Caudatenucleus337
Cerebellum121.45
CerebellumPeduncles168.4
CiliaryGanglion69.55
CingulateCortex114.65
Colorectaladenocarcinoma126.9
DorsalRootGanglion104.3
FetalThyroid269.8
Fetalbrain160.8
Fetalliver45.5
Fetallung217.35
GlobusPallidus73.95
Heart78.1
Hypothalamus447.75
Kidney30.1
Leukemia_chronicMyelogenousK-56260.55
Leukemia_promyelocytic-HL-6031.75
Leukemialymphoblastic(MOLT-4)26.75
Liver39.65
Lung20.9
Lymphnode191.6
Lymphoma_burkitts(Daudi)18.95
Lymphoma_burkitts(Raji)48.85
MedullaOblongata217.05
OccipitalLobe219.2
OlfactoryBulb316.95
Ovary103
Pancreas164.65
PancreaticIslet293.85
ParietalLobe126.7
Pituitary278.9
Placenta174.65
Pons87.8
PrefrontalCortex352.1
Prostate133.05
Salivarygland155.5
SkeletalMuscle44.1
Skin101.6
SmoothMuscle1493.95
Spinalcord465.6
SubthalamicNucleus78.9
SuperiorCervicalGanglion99.05
TemporalLobe105.85
Testis17.3
TestisGermCell162.3
TestisIntersitial37.05
TestisLeydigCell56.35
TestisSeminiferousTubule49.55
Thalamus213.2
Thymus38.75
Thyroid1039.35
Tongue98.4
Tonsil115.7
Trachea98.85
TrigeminalGanglion133.6
Uterus840.35
UterusCorpus128.35
WholeBlood43.15
Wholebrain193.5
colon246.1
pineal_day255.68
pineal_night229.88
retina1134.4
small_intestine132.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P50907
  • 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
Amygdala8.56 ± 0.28
Basal Forebrain8.68 ± 0.15
Basal Part of Pons8.58 ± 0.38
Cerebellar Cortex8.8 ± 0.19
Cerebellar Nuclei8.92 ± 0.57
Claustrum8.07 ± 0.55
Epithalamus8.5 ± 0.38
Frontal Lobe8.69 ± 0.47
Globus Pallidus9.62 ± 0.34
Hypothalamus8.7 ± 0.31
Insula8.6 ± 0.12
Limbic Lobe8.45 ± 0.41
Mesencephalon8.78 ± 0.53
Myelencephalon8.74 ± 0.45
Occipital Lobe8.79 ± 0.27
Parietal Lobe8.71 ± 0.39
Pontine Tegmentum8.83 ± 0.34
Striatum9.13 ± 0.42
Subthalamus8.82 ± 0.39
Temporal Lobe8.59 ± 0.27
Thalamus8.94 ± 0.38
White Matter10.28 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
ItgavCBCerebellum27.33
37.15
ItgavCTXCerebral cortex100
100
ItgavHIPHippocampal region18.57
25.99
ItgavHPFHippocampal formation23.51
29.5
ItgavHYHypothalamus13.21
10.47
ItgavLSXLateral septal complex34.62
31.45
ItgavMBMidbrain27.12
24.7
ItgavMYMedulla34.01
32.88
ItgavOLFOlfactory bulb100
100
ItgavPPons36.86
33.55
ItgavPALPallidum23.54
22.43
ItgavRHPRetrohippocampal region29.17
31.94
ItgavsAMYStriatum-like amygdalar nuclei22.38
19.68
ItgavSTRStriatum75.04
67.89
ItgavSTRdStriatum dorsal region84.23
75.91
ItgavSTRvStriatum ventral region94.18
85.4
ItgavTHThalamus32.8
28.23
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ITAV_HUMAN_429 11 429 439 SMPPSFGYSMK PRIDE
ITAV_HUMAN_580 13 580 592 DKLTPITIFMEYR PRIDE
ITAV_HUMAN_582 11 582 592 LTPITIFMEYR PRIDE
ITAV_HUMAN_64 9 64 72 MFLLVGAPK PRIDE
PAp00010476 11 135 145 ILACAPLYHWR 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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