AutismKB 2.0

Annotation Detail for BCKDHB


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Basic Information Top
Gene Symbol:BCKDHB ( E1B,FLJ17880,dJ279A18.1 )
Gene Full Name: branched chain keto acid dehydrogenase E1, beta polypeptide
Band: 6q14.1
Quick LinksEntrez ID:594; OMIM: 248611; Uniprot ID:ODBB_HUMAN; ENSEMBL ID: ENSG00000083123; HGNC ID: 987
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
fetus26 / 56401246
neonate0 / 310970 
infant0 / 236200 
juvenile5 / 5555689
adult54 / 193912127
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor4 / 26384515
glioma3 / 10688328
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia9 / 9584293
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma1 / 7175513
non-neoplasia2 / 9725020
normal130 / 336030738
ovarian tumor8 / 76682104
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer2 / 10268019
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder1 / 2975733
blood11 / 12347889
bone1 / 7165513
bone marrow0 / 488010 
brain64 / 110098958
cervix0 / 481710 
connective tissue9 / 14925560
ear1 / 1621261
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye3 / 21105414
heart2 / 8962622
intestine3 / 23447212
kidney9 / 21177742
larynx1 / 2414541
liver5 / 20774324
lung6 / 33697417
lymph1 / 4427022
lymph node0 / 916100 
mammary gland2 / 15327113
mouth2 / 6705229
muscle0 / 1077150 
nerve0 / 157680 
ovary8 / 10205178
pancreas3 / 21481213
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta5 / 28082517
prostate4 / 18934521
salivary gland0 / 201550 
skin4 / 21057418
spleen0 / 539520 
stomach3 / 9661931
testis16 / 33044248
thymus5 / 8113161
thyroid0 / 474730 
tonsil0 / 169990 
trachea16 / 52413305
umbilical cord0 / 136800 
uterus17 / 23287872
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 210653_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts32.5
Adipocyte17.2
AdrenalCortex5
Adrenalgland4
Amygdala4.8
Appendix4.75
AtrioventricularNode3.8
BDCA4+_DentriticCells19.6
Bonemarrow4.65
BronchialEpithelialCells4.4
CD105+_Endothelial4.7
CD14+_Monocytes7.15
CD19+_BCells(neg._sel.)10.2
CD33+_Myeloid5.7
CD34+10.2
CD4+_Tcells7.65
CD56+_NKCells5.65
CD71+_EarlyErythroid4.35
CD8+_Tcells5.85
CardiacMyocytes6.3
Caudatenucleus4.15
Cerebellum3.75
CerebellumPeduncles5.3
CiliaryGanglion3.6
CingulateCortex4.7
Colorectaladenocarcinoma4.55
DorsalRootGanglion3.65
FetalThyroid4.5
Fetalbrain4.4
Fetalliver4.05
Fetallung3.6
GlobusPallidus3.45
Heart6.2
Hypothalamus4.95
Kidney3.95
Leukemia_chronicMyelogenousK-5624.15
Leukemia_promyelocytic-HL-604.1
Leukemialymphoblastic(MOLT-4)3.75
Liver7.9
Lung4.95
Lymphnode3.85
Lymphoma_burkitts(Daudi)6.15
Lymphoma_burkitts(Raji)6.6
MedullaOblongata4.1
OccipitalLobe4.05
OlfactoryBulb3.6
Ovary3.15
Pancreas3.75
PancreaticIslet4.9
ParietalLobe5
Pituitary5.35
Placenta4.65
Pons4.45
PrefrontalCortex5.55
Prostate5.3
Salivarygland3.75
SkeletalMuscle5.65
Skin3.75
SmoothMuscle5.1
Spinalcord4.95
SubthalamicNucleus4.25
SuperiorCervicalGanglion5.55
TemporalLobe4.2
Testis9.85
TestisGermCell3.85
TestisIntersitial4.05
TestisLeydigCell4.6
TestisSeminiferousTubule3.95
Thalamus4.75
Thymus3.55
Thyroid5.7
Tongue4.65
Tonsil4.5
Trachea4
TrigeminalGanglion4.85
Uterus3.65
UterusCorpus4.25
WholeBlood4.9
Wholebrain3.8
colon6.1
pineal_day5.7
pineal_night8.78
retina5.6
small_intestine4.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P914513
  • 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
Amygdala4.66 ± 0.4
Basal Forebrain4.61 ± 0.25
Basal Part of Pons4.42 ± 0.48
Cerebellar Cortex4.47 ± 0.42
Cerebellar Nuclei4.06 ± 0.6
Claustrum4.12 ± 0.59
Epithalamus5.04 ± 0.6
Frontal Lobe4.55 ± 0.44
Globus Pallidus5.28 ± 0.6
Hypothalamus4.89 ± 0.25
Insula4.66 ± 0.49
Limbic Lobe4.51 ± 0.48
Mesencephalon4.61 ± 0.49
Myelencephalon4.61 ± 0.48
Occipital Lobe4.5 ± 0.39
Parietal Lobe4.56 ± 0.53
Pontine Tegmentum4.51 ± 0.56
Striatum4.83 ± 0.44
Subthalamus4.43 ± 0.73
Temporal Lobe4.51 ± 0.42
Thalamus4.62 ± 0.47
White Matter5.22 ± 0.44
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BckdhbCBCerebellum34.37
51.24
BckdhbCTXCerebral cortex47.79
37.71
BckdhbHIPHippocampal region41.81
52.8
BckdhbHPFHippocampal formation46.18
48.79
BckdhbHYHypothalamus31.52
27.13
BckdhbLSXLateral septal complex20.53
14.5
BckdhbMBMidbrain54.09
54.92
BckdhbMYMedulla57.99
77.4
BckdhbOLFOlfactory bulb47.84
39.37
BckdhbPPons56.08
69.55
BckdhbPALPallidum41.57
43.85
BckdhbRHPRetrohippocampal region52.48
43.74
BckdhbsAMYStriatum-like amygdalar nuclei46.72
39.52
BckdhbSTRStriatum26.06
18.87
BckdhbSTRdStriatum dorsal region23.79
16.52
BckdhbSTRvStriatum ventral region25.46
18.2
BckdhbTHThalamus45.01
43.41
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
ODBB_HUMAN_51 13 51 63 VAHFTFQPDPEPR PRIDE
ODBB_HUMAN_8 8 8 15 AGWLLRLR PRIDE
PAp00002972 19 223 241 GLLLSCIEDKNPCIFFEPK 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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