AutismKB 2.0

Annotation Detail for ACVR1


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Basic Information Top
Gene Symbol:ACVR1 ( ACTRI,ACVR1A,ACVRLK2,ALK2,FOP,SKR1,TSRI )
Gene Full Name: activin A receptor, type I
Band: 2q24.1
Quick LinksEntrez ID:90; OMIM: 102576; Uniprot ID:ACVR1_HUMAN; ENSEMBL ID: ENSG00000115170; HGNC ID: 171
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 body6 / 7076184
blastocyst1 / 6231916
fetus26 / 56401246
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult71 / 193912136
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 
chondrosarcoma4 / 8282348
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor6 / 26384522
glioma0 / 1068830 
head and neck tumor3 / 13630222
kidney tumor4 / 6895958
leukemia1 / 9584210
liver tumor0 / 963590 
lung tumor18 / 103127174
lymphoma1 / 7175513
non-neoplasia5 / 9725051
normal94 / 336030727
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder1 / 2975733
blood2 / 12347816
bone2 / 7165527
bone marrow1 / 4880120
brain18 / 110098916
cervix0 / 481710 
connective tissue7 / 14925546
ear1 / 1621261
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye10 / 21105447
heart9 / 89626100
intestine6 / 23447225
kidney12 / 21177756
larynx0 / 241450 
liver1 / 2077434
lung25 / 33697474
lymph0 / 442700 
lymph node0 / 916100 
mammary gland3 / 15327119
mouth1 / 6705214
muscle3 / 10771527
nerve1 / 1576863
ovary1 / 1020519
pancreas12 / 21481255
parathyroid0 / 205390 
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta3 / 28082510
prostate1 / 1893455
salivary gland0 / 201550 
skin4 / 21057418
spleen1 / 5395218
stomach2 / 9661920
testis0 / 3304420 
thymus0 / 811310 
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus9 / 23287838
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203935_at
Cell line Expression level Expression bar
721_B_lymphoblasts8.6
Adipocyte15.45
AdrenalCortex13
Adrenalgland9.1
Amygdala26.8
Appendix14.9
AtrioventricularNode8.65
BDCA4+_DentriticCells18.75
Bonemarrow10.3
BronchialEpithelialCells18.75
CD105+_Endothelial9.9
CD14+_Monocytes19.7
CD19+_BCells(neg._sel.)10.15
CD33+_Myeloid16.7
CD34+18.75
CD4+_Tcells19.05
CD56+_NKCells12.2
CD71+_EarlyErythroid8.45
CD8+_Tcells9.55
CardiacMyocytes25.9
Caudatenucleus9.6
Cerebellum11.45
CerebellumPeduncles11.8
CiliaryGanglion9.1
CingulateCortex9.7
Colorectaladenocarcinoma11.1
DorsalRootGanglion8.8
FetalThyroid14.1
Fetalbrain12.5
Fetalliver9.55
Fetallung17
GlobusPallidus7.2
Heart15.7
Hypothalamus10.6
Kidney13.35
Leukemia_chronicMyelogenousK-5629.55
Leukemia_promyelocytic-HL-608.95
Leukemialymphoblastic(MOLT-4)6.95
Liver15.05
Lung24.8
Lymphnode9.1
Lymphoma_burkitts(Daudi)12.4
Lymphoma_burkitts(Raji)14.9
MedullaOblongata9.2
OccipitalLobe8.85
OlfactoryBulb8.35
Ovary8.35
Pancreas8.75
PancreaticIslet31.85
ParietalLobe11.5
Pituitary13.45
Placenta34.45
Pons10.3
PrefrontalCortex12.25
Prostate19.05
Salivarygland12.75
SkeletalMuscle14.15
Skin9.4
SmoothMuscle30.1
Spinalcord11.15
SubthalamicNucleus8.8
SuperiorCervicalGanglion15.9
TemporalLobe10.75
Testis8.6
TestisGermCell7.55
TestisIntersitial8.15
TestisLeydigCell10.4
TestisSeminiferousTubule8.2
Thalamus11.95
Thymus7.9
Thyroid103.8
Tongue11.65
Tonsil10.25
Trachea15
TrigeminalGanglion14.4
Uterus47.1
UterusCorpus10.95
WholeBlood14.95
Wholebrain9.5
colon17.65
pineal_day90.38
pineal_night93.28
retina57.425
small_intestine21.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P79221
  • 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
Amygdala5.85 ± 0.54
Basal Forebrain5.78 ± 0.22
Basal Part of Pons6.38 ± 0.18
Cerebellar Cortex6.33 ± 0.31
Cerebellar Nuclei6.4 ± 0.52
Claustrum5.4 ± 0.51
Epithalamus6.03 ± 0.31
Frontal Lobe6.24 ± 0.38
Globus Pallidus6.2 ± 0.36
Hypothalamus5.83 ± 0.49
Insula6.18 ± 0.26
Limbic Lobe6.36 ± 0.39
Mesencephalon6.07 ± 0.43
Myelencephalon6.17 ± 0.45
Occipital Lobe6.48 ± 0.46
Parietal Lobe6.04 ± 0.41
Pontine Tegmentum6.16 ± 0.4
Striatum6.54 ± 0.36
Subthalamus6.34 ± 0.12
Temporal Lobe6.08 ± 0.35
Thalamus6.19 ± 0.27
White Matter5.79 ± 0.62
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Acvr1CBCerebellum5.6
6.25
Acvr1CTXCerebral cortex26.42
18.08
Acvr1HIPHippocampal region31.18
44.24
Acvr1HPFHippocampal formation27.96
32.51
Acvr1HYHypothalamus2.48
1.76
Acvr1LSXLateral septal complex12.23
8.97
Acvr1MBMidbrain3.5
3.2
Acvr1MYMedulla10.17
11.49
Acvr1OLFOlfactory bulb31.98
24.74
Acvr1PPons5.48
5.87
Acvr1PALPallidum3.35
2.71
Acvr1RHPRetrohippocampal region22.27
17.37
Acvr1sAMYStriatum-like amygdalar nuclei1.28
0.97
Acvr1STRStriatum17.06
10.94
Acvr1STRdStriatum dorsal region22.9
14.88
Acvr1STRvStriatum ventral region7.94
4.66
Acvr1THThalamus8.91
7.6
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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