AutismKB 2.0

Annotation Detail for BDH2


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Basic Information Top
Gene Symbol:BDH2 ( DHRS6,EFA6R,FLJ13261,PRO20933,SDR15C1,UCPA-OR,UNQ6308 )
Gene Full Name: 3-hydroxybutyrate dehydrogenase, type 2
Band: 4q24
Quick LinksEntrez ID:56898; OMIM: NA; Uniprot ID:BDH2_HUMAN; ENSEMBL ID: ENSG00000164039; HGNC ID: 32389
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
blastocyst2 / 6231932
fetus53 / 56401293
neonate4 / 31097128
infant0 / 236200 
juvenile2 / 5555635
adult132 / 193912168
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor3 / 9417831
cervical tumor1 / 3436629
chondrosarcoma13 / 82823156
colorectal tumor1 / 1142468
esophageal tumor3 / 17290173
gastrointestinal tumor8 / 11936967
germ cell tumor7 / 26384526
glioma9 / 10688384
head and neck tumor3 / 13630222
kidney tumor10 / 68959145
leukemia1 / 9584210
liver tumor5 / 9635951
lung tumor3 / 10312729
lymphoma0 / 717550 
non-neoplasia17 / 97250174
normal321 / 336030795
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer5 / 10268048
retinoblastoma1 / 4635621
skin tumor9 / 12494972
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland7 / 33197210
ascites3 / 4001574
bladder7 / 29757235
blood2 / 12347816
bone9 / 71655125
bone marrow0 / 488010 
brain128 / 1100989116
cervix8 / 48171166
connective tissue12 / 14925580
ear1 / 1621261
embryonic tissue13 / 21572260
esophagus4 / 20209197
eye10 / 21105447
heart14 / 89626156
intestine18 / 23447276
kidney39 / 211777184
larynx1 / 2414541
liver9 / 20774343
lung37 / 336974109
lymph0 / 442700 
lymph node3 / 9161032
mammary gland5 / 15327132
mouth3 / 6705244
muscle5 / 10771546
nerve1 / 1576863
ovary4 / 10205139
pancreas4 / 21481218
parathyroid20 / 20539973
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta18 / 28082564
prostate12 / 18934563
salivary gland1 / 2015549
skin15 / 21057471
spleen7 / 53952129
stomach7 / 9661972
testis15 / 33044245
thymus9 / 81131110
thyroid2 / 4747342
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord3 / 13680219
uterus70 / 232878300
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218285_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.1
Adipocyte31.45
AdrenalCortex26.25
Adrenalgland17.6
Amygdala17.6
Appendix12.45
AtrioventricularNode7.35
BDCA4+_DentriticCells12.85
Bonemarrow6.35
BronchialEpithelialCells14.7
CD105+_Endothelial12.6
CD14+_Monocytes8.45
CD19+_BCells(neg._sel.)13.45
CD33+_Myeloid11.25
CD34+32.2
CD4+_Tcells26.3
CD56+_NKCells15.3
CD71+_EarlyErythroid6.1
CD8+_Tcells24.5
CardiacMyocytes11.8
Caudatenucleus13.35
Cerebellum5.7
CerebellumPeduncles9.8
CiliaryGanglion7.95
CingulateCortex10.45
Colorectaladenocarcinoma5.6
DorsalRootGanglion7.45
FetalThyroid119.35
Fetalbrain6.2
Fetalliver10.65
Fetallung41.85
GlobusPallidus9.35
Heart9.75
Hypothalamus56.7
Kidney161.3
Leukemia_chronicMyelogenousK-5625.7
Leukemia_promyelocytic-HL-6011.25
Leukemialymphoblastic(MOLT-4)48.8
Liver8.7
Lung9.85
Lymphnode10.1
Lymphoma_burkitts(Daudi)11
Lymphoma_burkitts(Raji)9.65
MedullaOblongata9.15
OccipitalLobe13.35
OlfactoryBulb18.7
Ovary16.7
Pancreas6.75
PancreaticIslet23.45
ParietalLobe10.95
Pituitary13.2
Placenta4.9
Pons8.65
PrefrontalCortex37.05
Prostate12.8
Salivarygland9.75
SkeletalMuscle9.45
Skin5.75
SmoothMuscle34.25
Spinalcord46
SubthalamicNucleus9.35
SuperiorCervicalGanglion11.9
TemporalLobe8.95
Testis7.8
TestisGermCell27.55
TestisIntersitial9.1
TestisLeydigCell9.55
TestisSeminiferousTubule8
Thalamus36.85
Thymus12.3
Thyroid110.65
Tongue10.35
Tonsil7.25
Trachea9.15
TrigeminalGanglion10.1
Uterus52
UterusCorpus9.6
WholeBlood6.95
Wholebrain12.4
colon18.1
pineal_day21.26
pineal_night23.74
retina133.875
small_intestine136.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P80500
  • 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
Amygdala4.67 ± 0.63
Basal Forebrain4.92 ± 0.35
Basal Part of Pons4.07 ± 0.64
Cerebellar Cortex4.13 ± 0.43
Cerebellar Nuclei5.03 ± 0.56
Claustrum3.96 ± 0.91
Epithalamus5.22 ± 0.56
Frontal Lobe4.77 ± 0.63
Globus Pallidus6.5 ± 0.68
Hypothalamus4.98 ± 0.58
Insula4.8 ± 0.55
Limbic Lobe4.38 ± 0.7
Mesencephalon5.09 ± 0.64
Myelencephalon4.94 ± 0.73
Occipital Lobe4.87 ± 0.56
Parietal Lobe4.83 ± 0.76
Pontine Tegmentum5.06 ± 0.71
Striatum5.92 ± 0.5
Subthalamus5.35 ± 0.04
Temporal Lobe4.66 ± 0.58
Thalamus5.46 ± 0.57
White Matter5.21 ± 0.36
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Bdh2CBCerebellum1.85
3.22
Bdh2CTXCerebral cortex1.15
1.22
Bdh2HIPHippocampal region1.94
2.73
Bdh2HPFHippocampal formation1.33
1.68
Bdh2HYHypothalamus1.25
1.83
Bdh2LSXLateral septal complex2.36
2.89
Bdh2MBMidbrain0.93
2
Bdh2MYMedulla1.17
1.87
Bdh2OLFOlfactory bulb2.16
2.27
Bdh2PPons0.61
0.8
Bdh2PALPallidum0.49
0.55
Bdh2RHPRetrohippocampal region0.55
0.52
Bdh2sAMYStriatum-like amygdalar nuclei1
1.1
Bdh2STRStriatum1.19
1.28
Bdh2STRdStriatum dorsal region1.05
1.23
Bdh2STRvStriatum ventral region1.19
0.9
Bdh2THThalamus1.69
2.36
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
BDH2_HUMAN_124 15 124 138 SGNIINMSSVASSVK PRIDE
BDH2_HUMAN_159 12 159 170 SVAADFIQQGIR PRIDE
BDH2_HUMAN_42 13 42 54 LQELEKYPGIQTR PRIDE
BDH2_HUMAN_7 21 7 27 VIILTAAAQGIGQAAALAFAR PRIDE
PAp00001217 17 172 188 CNCVCPGTVDTPSLQER 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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