AutismKB 2.0

Annotation Detail for BMPR2


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Basic Information Top
Gene Symbol:BMPR2 ( BMPR-II,BMPR3,BMR2,BRK-3,FLJ41585,FLJ76945,PPH1,T-ALK )
Gene Full Name: bone morphogenetic protein receptor, type II (serine/threonine kinase)
Band: 2q33.1-q33.2
Quick LinksEntrez ID:659; OMIM: 600799; Uniprot ID:BMPR2_HUMAN; ENSEMBL ID: ENSG00000204217; HGNC ID: 1078
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 body7 / 7076198
blastocyst5 / 6231980
fetus48 / 56401285
neonate2 / 3109764
infant0 / 236200 
juvenile4 / 5555671
adult190 / 193912197
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor5 / 9417853
cervical tumor1 / 3436629
chondrosarcoma11 / 82823132
colorectal tumor33 / 114246288
esophageal tumor0 / 172900 
gastrointestinal tumor6 / 11936950
germ cell tumor16 / 26384560
glioma3 / 10688328
head and neck tumor6 / 13630244
kidney tumor4 / 6895958
leukemia6 / 9584262
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal298 / 336030788
ovarian tumor4 / 7668252
pancreatic tumor6 / 10461657
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer5 / 10268048
retinoblastoma1 / 4635621
skin tumor14 / 124949112
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland4 / 33197120
ascites1 / 4001524
bladder3 / 29757100
blood4 / 12347832
bone6 / 7165583
bone marrow1 / 4880120
brain97 / 110098988
cervix1 / 4817120
connective tissue17 / 149255113
ear2 / 16212123
embryonic tissue16 / 21572274
esophagus1 / 2020949
eye21 / 21105499
heart3 / 8962633
intestine40 / 234472170
kidney15 / 21177770
larynx3 / 24145124
liver8 / 20774338
lung18 / 33697453
lymph0 / 442700 
lymph node0 / 916100 
mammary gland17 / 153271110
mouth2 / 6705229
muscle13 / 107715120
nerve3 / 15768190
ovary5 / 10205148
pancreas22 / 214812102
parathyroid3 / 20539146
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta22 / 28082578
prostate12 / 18934563
salivary gland1 / 2015549
skin19 / 21057490
spleen0 / 539520 
stomach4 / 9661941
testis20 / 33044260
thymus0 / 811310 
thyroid3 / 4747363
tonsil0 / 169990 
trachea8 / 52413152
umbilical cord1 / 1368073
uterus16 / 23287868
vascular14 / 51780270
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209920_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.75
Adipocyte5.8
AdrenalCortex6
Adrenalgland4.35
Amygdala5.7
Appendix5.55
AtrioventricularNode4.95
BDCA4+_DentriticCells10.5
Bonemarrow5.4
BronchialEpithelialCells5.2
CD105+_Endothelial5.3
CD14+_Monocytes7.35
CD19+_BCells(neg._sel.)6.1
CD33+_Myeloid7.7
CD34+6.55
CD4+_Tcells7.45
CD56+_NKCells6.9
CD71+_EarlyErythroid5.25
CD8+_Tcells5.3
CardiacMyocytes9.15
Caudatenucleus4.8
Cerebellum4.5
CerebellumPeduncles6.55
CiliaryGanglion7.55
CingulateCortex5.95
Colorectaladenocarcinoma7.1
DorsalRootGanglion4.4
FetalThyroid5.6
Fetalbrain5.95
Fetalliver4.85
Fetallung6.35
GlobusPallidus4
Heart7.65
Hypothalamus5.6
Kidney4.75
Leukemia_chronicMyelogenousK-5624.9
Leukemia_promyelocytic-HL-604.8
Leukemialymphoblastic(MOLT-4)4.15
Liver7.65
Lung9.45
Lymphnode4.45
Lymphoma_burkitts(Daudi)7.2
Lymphoma_burkitts(Raji)8.05
MedullaOblongata4.8
OccipitalLobe6.2
OlfactoryBulb4.2
Ovary4
Pancreas7.7
PancreaticIslet5.95
ParietalLobe6.2
Pituitary6.25
Placenta10.7
Pons5.45
PrefrontalCortex6.7
Prostate6.3
Salivarygland4.55
SkeletalMuscle7.75
Skin4.2
SmoothMuscle6.15
Spinalcord5.7
SubthalamicNucleus5.2
SuperiorCervicalGanglion7.2
TemporalLobe5.1
Testis4.65
TestisGermCell10
TestisIntersitial4.95
TestisLeydigCell6.55
TestisSeminiferousTubule5.3
Thalamus6.2
Thymus4.05
Thyroid6.45
Tongue5.4
Tonsil5.75
Trachea4.5
TrigeminalGanglion6.2
Uterus4.3
UterusCorpus5.3
WholeBlood5.9
Wholebrain5.4
colon10.25
pineal_day18.8
pineal_night18.82
retina6.675
small_intestine9.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P753161
  • 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
Amygdala7.31 ± 0.3
Basal Forebrain6.98 ± 0.26
Basal Part of Pons7.45 ± 0.28
Cerebellar Cortex6.87 ± 0.21
Cerebellar Nuclei7.18 ± 0.47
Claustrum7.57 ± 0.31
Epithalamus6.65 ± 0.58
Frontal Lobe7.23 ± 0.35
Globus Pallidus6.8 ± 0.42
Hypothalamus7.33 ± 0.4
Insula7.31 ± 0.37
Limbic Lobe7.3 ± 0.35
Mesencephalon7.18 ± 0.43
Myelencephalon7.16 ± 0.38
Occipital Lobe7.47 ± 0.3
Parietal Lobe7.26 ± 0.35
Pontine Tegmentum7.24 ± 0.32
Striatum7.1 ± 0.48
Subthalamus7.47 ± 0.48
Temporal Lobe7.27 ± 0.29
Thalamus7.29 ± 0.34
White Matter5.79 ± 0.61
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Bmpr2CBCerebellum32.82
57.93
Bmpr2CTXCerebral cortex100
100
Bmpr2HIPHippocampal region89.43
100
Bmpr2HPFHippocampal formation96.13
100
Bmpr2HYHypothalamus84.28
82.2
Bmpr2LSXLateral septal complex78.76
68.27
Bmpr2MBMidbrain75.79
84.61
Bmpr2MYMedulla88.88
100
Bmpr2OLFOlfactory bulb100
100
Bmpr2PPons77.99
100
Bmpr2PALPallidum88.15
100
Bmpr2RHPRetrohippocampal region100
100
Bmpr2sAMYStriatum-like amygdalar nuclei100
100
Bmpr2STRStriatum99.57
88.46
Bmpr2STRdStriatum dorsal region98.63
88.03
Bmpr2STRvStriatum ventral region100
90.14
Bmpr2THThalamus78.7
81.29
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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