AutismKB 2.0

Annotation Detail for ACVR2A


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Basic Information Top
Gene Symbol:ACVR2A ( ACTRII,ACVR2 )
Gene Full Name: activin A receptor, type IIA
Band: 2q22.3-q23.1
Quick LinksEntrez ID:92; OMIM: 102581; Uniprot ID:AVR2A_HUMAN; ENSEMBL ID: ENSG00000121989; HGNC ID: 173
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
blastocyst1 / 6231916
fetus24 / 56401242
neonate3 / 3109796
infant0 / 236200 
juvenile1 / 5555617
adult46 / 193912123
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma1 / 8282312
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor7 / 26384526
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia0 / 958420 
liver tumor1 / 9635910
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal87 / 336030725
ovarian tumor4 / 7668252
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor1 / 1249498
soft tissue/muscle tissue tumor0 / 1251910 
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 
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone0 / 716550 
bone marrow0 / 488010 
brain30 / 110098927
cervix0 / 481710 
connective tissue1 / 1492556
ear0 / 162120 
embryonic tissue4 / 21572218
esophagus0 / 202090 
eye1 / 2110544
heart4 / 8962644
intestine4 / 23447217
kidney11 / 21177751
larynx0 / 241450 
liver4 / 20774319
lung3 / 3369748
lymph0 / 442700 
lymph node0 / 916100 
mammary gland8 / 15327152
mouth6 / 6705289
muscle3 / 10771527
nerve1 / 1576863
ovary4 / 10205139
pancreas5 / 21481223
parathyroid5 / 20539243
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta3 / 28082510
prostate0 / 1893450 
salivary gland0 / 201550 
skin3 / 21057414
spleen0 / 539520 
stomach0 / 966190 
testis6 / 33044218
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord2 / 13680146
uterus4 / 23287817
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 205327_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts19.05
Adipocyte24.15
AdrenalCortex21.8
Adrenalgland17.85
Amygdala26.35
Appendix25.25
AtrioventricularNode16.2
BDCA4+_DentriticCells18.7
Bonemarrow23.3
BronchialEpithelialCells16.65
CD105+_Endothelial17.1
CD14+_Monocytes21.55
CD19+_BCells(neg._sel.)21.55
CD33+_Myeloid35.5
CD34+25.15
CD4+_Tcells25.55
CD56+_NKCells22.45
CD71+_EarlyErythroid18.85
CD8+_Tcells19.35
CardiacMyocytes27.9
Caudatenucleus18.45
Cerebellum20.05
CerebellumPeduncles23.6
CiliaryGanglion16.2
CingulateCortex21.35
Colorectaladenocarcinoma20.45
DorsalRootGanglion18.75
FetalThyroid19.35
Fetalbrain20.9
Fetalliver38
Fetallung17.1
GlobusPallidus16.2
Heart32.8
Hypothalamus21.65
Kidney22.75
Leukemia_chronicMyelogenousK-56218.6
Leukemia_promyelocytic-HL-6018.05
Leukemialymphoblastic(MOLT-4)15.3
Liver34.2
Lung22.55
Lymphnode17.45
Lymphoma_burkitts(Daudi)25.95
Lymphoma_burkitts(Raji)28.9
MedullaOblongata18.75
OccipitalLobe18.55
OlfactoryBulb19.2
Ovary15.85
Pancreas16.3
PancreaticIslet22.45
ParietalLobe22.5
Pituitary23.8
Placenta21
Pons23.05
PrefrontalCortex25.95
Prostate23.6
Salivarygland16.9
SkeletalMuscle32.55
Skin20.65
SmoothMuscle22.25
Spinalcord20.4
SubthalamicNucleus19.3
SuperiorCervicalGanglion29.8
TemporalLobe21.65
Testis17.6
TestisGermCell19.05
TestisIntersitial17.3
TestisLeydigCell22.3
TestisSeminiferousTubule20.95
Thalamus20.85
Thymus16.05
Thyroid27.4
Tongue21.65
Tonsil19.35
Trachea20.55
TrigeminalGanglion20.6
Uterus15.7
UterusCorpus23.85
WholeBlood21.85
Wholebrain17.05
colon20.15
pineal_day23.24
pineal_night24.12
retina24.4
small_intestine19.75
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16955_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
Amygdala8.18 ± 0.37
Basal Forebrain7.36 ± 0.27
Basal Part of Pons6.77 ± 0.21
Cerebellar Cortex7.35 ± 0.3
Cerebellar Nuclei6.73 ± 0.24
Claustrum7.11 ± 0.27
Epithalamus7.09 ± 0.13
Frontal Lobe7.18 ± 0.48
Globus Pallidus6.55 ± 0.3
Hypothalamus7.53 ± 0.32
Insula7.52 ± 0.28
Limbic Lobe7.63 ± 0.52
Mesencephalon7.24 ± 0.4
Myelencephalon7.21 ± 0.42
Occipital Lobe7.08 ± 0.35
Parietal Lobe7.27 ± 0.37
Pontine Tegmentum7.34 ± 0.46
Striatum6.66 ± 0.48
Subthalamus7.27 ± 0.28
Temporal Lobe7.56 ± 0.35
Thalamus6.91 ± 0.38
White Matter7.04 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Acvr2aCBCerebellum0
0
Acvr2aCTXCerebral cortex0
0
Acvr2aHIPHippocampal region0
0
Acvr2aHPFHippocampal formation0
0
Acvr2aHYHypothalamus0
0
Acvr2aLSXLateral septal complex0
0
Acvr2aMBMidbrain0
0
Acvr2aMYMedulla0
0
Acvr2aOLFOlfactory bulb0
0
Acvr2aPPons0
0
Acvr2aPALPallidum0
0
Acvr2aRHPRetrohippocampal region0
0
Acvr2asAMYStriatum-like amygdalar nuclei0
0
Acvr2aSTRStriatum0
0
Acvr2aSTRdStriatum dorsal region0
0
Acvr2aSTRvStriatum ventral region0
0
Acvr2aTHThalamus0
0
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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