AutismKB 2.0

Annotation Detail for BCKDK


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Basic Information Top
Gene Symbol:BCKDK ( - )
Gene Full Name: branched chain ketoacid dehydrogenase kinase
Band: 16p11.2
Quick LinksEntrez ID:10295; OMIM: NA; Uniprot ID:BCKD_HUMAN; ENSEMBL ID: ENSG00000103507; HGNC ID: 16902
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 body5 / 7076170
blastocyst4 / 6231964
fetus40 / 56401270
neonate2 / 3109764
infant3 / 23620127
juvenile10 / 55556179
adult169 / 193912187
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 tumor2 / 3436658
chondrosarcoma5 / 8282360
colorectal tumor5 / 11424643
esophageal tumor3 / 17290173
gastrointestinal tumor7 / 11936958
germ cell tumor16 / 26384560
glioma17 / 106883159
head and neck tumor17 / 136302124
kidney tumor6 / 6895987
leukemia4 / 9584241
liver tumor13 / 96359134
lung tumor11 / 103127106
lymphoma18 / 71755250
non-neoplasia9 / 9725092
normal290 / 336030786
ovarian tumor5 / 7668265
pancreatic tumor18 / 104616172
primitive neuroectodermal tumor of the CNS26 / 125680206
prostate cancer7 / 10268068
retinoblastoma3 / 4635664
skin tumor22 / 124949176
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor11 / 90257121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland6 / 33197180
ascites2 / 4001549
bladder2 / 2975767
blood8 / 12347864
bone7 / 7165597
bone marrow2 / 4880140
brain91 / 110098982
cervix8 / 48171166
connective tissue7 / 14925546
ear0 / 162120 
embryonic tissue15 / 21572269
esophagus3 / 20209148
eye21 / 21105499
heart10 / 89626111
intestine25 / 234472106
kidney20 / 21177794
larynx2 / 2414582
liver22 / 207743105
lung27 / 33697480
lymph3 / 4427067
lymph node9 / 9161098
mammary gland10 / 15327165
mouth4 / 6705259
muscle11 / 107715102
nerve2 / 15768126
ovary10 / 10205197
pancreas20 / 21481293
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta32 / 280825113
prostate12 / 18934563
salivary gland6 / 20155297
skin25 / 210574118
spleen3 / 5395255
stomach5 / 9661951
testis52 / 330442157
thymus6 / 8113173
thyroid9 / 47473189
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord1 / 1368073
uterus23 / 23287898
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202030_at
Cell line Expression level Expression bar
721_B_lymphoblasts109.1
Adipocyte13.55
AdrenalCortex11.85
Adrenalgland10.05
Amygdala14.45
Appendix11.45
AtrioventricularNode7.8
BDCA4+_DentriticCells21.55
Bonemarrow11.5
BronchialEpithelialCells11.85
CD105+_Endothelial12.45
CD14+_Monocytes107.95
CD19+_BCells(neg._sel.)12.6
CD33+_Myeloid56.85
CD34+30.1
CD4+_Tcells11.1
CD56+_NKCells14.65
CD71+_EarlyErythroid14.6
CD8+_Tcells9.9
CardiacMyocytes32
Caudatenucleus9.95
Cerebellum9.45
CerebellumPeduncles12.4
CiliaryGanglion6.2
CingulateCortex10.25
Colorectaladenocarcinoma12.15
DorsalRootGanglion6.8
FetalThyroid11.65
Fetalbrain9.3
Fetalliver10.1
Fetallung12.65
GlobusPallidus5.5
Heart119.4
Hypothalamus12.7
Kidney13.8
Leukemia_chronicMyelogenousK-56210.15
Leukemia_promyelocytic-HL-6011.9
Leukemialymphoblastic(MOLT-4)10.85
Liver181.75
Lung36.1
Lymphnode14
Lymphoma_burkitts(Daudi)17.8
Lymphoma_burkitts(Raji)56.25
MedullaOblongata7.95
OccipitalLobe10.55
OlfactoryBulb9.7
Ovary7.55
Pancreas12.6
PancreaticIslet12.1
ParietalLobe12.2
Pituitary12.7
Placenta12.25
Pons9.75
PrefrontalCortex11.7
Prostate56.1
Salivarygland12.7
SkeletalMuscle13.05
Skin5.75
SmoothMuscle43.7
Spinalcord14.1
SubthalamicNucleus5.55
SuperiorCervicalGanglion13.15
TemporalLobe9.95
Testis13.15
TestisGermCell8.5
TestisIntersitial7
TestisLeydigCell10.55
TestisSeminiferousTubule9.6
Thalamus10.6
Thymus10.2
Thyroid21.1
Tongue10.1
Tonsil9.8
Trachea15.6
TrigeminalGanglion10.45
Uterus13.75
UterusCorpus9.7
WholeBlood29.5
Wholebrain14.3
colon12.65
pineal_day14.04
pineal_night13.72
retina14.375
small_intestine11.45
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P365149
  • 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
Amygdala4.8 ± 0.47
Basal Forebrain4.61 ± 0.35
Basal Part of Pons5.36 ± 0.33
Cerebellar Cortex5.2 ± 0.45
Cerebellar Nuclei4.96 ± 0.39
Claustrum4.54 ± 1
Epithalamus5.16 ± 0.4
Frontal Lobe5.24 ± 0.49
Globus Pallidus4.48 ± 0.3
Hypothalamus5.01 ± 0.7
Insula5.25 ± 0.34
Limbic Lobe4.8 ± 0.57
Mesencephalon4.86 ± 0.56
Myelencephalon4.94 ± 0.61
Occipital Lobe4.41 ± 0.51
Parietal Lobe4.84 ± 0.53
Pontine Tegmentum4.86 ± 0.62
Striatum4.33 ± 0.5
Subthalamus4.98 ± 0.24
Temporal Lobe5.11 ± 0.55
Thalamus5.04 ± 0.42
White Matter4.2 ± 0.72
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BckdkCBCerebellum8.95
9.04
BckdkCTXCerebral cortex20.29
14.04
BckdkHIPHippocampal region20.74
18.97
BckdkHPFHippocampal formation23.5
19.55
BckdkHYHypothalamus15.81
11.22
BckdkLSXLateral septal complex7.27
4.91
BckdkMBMidbrain9.13
7.99
BckdkMYMedulla24.89
28.36
BckdkOLFOlfactory bulb34.08
24.94
BckdkPPons22.09
22.7
BckdkPALPallidum7.93
6.3
BckdkRHPRetrohippocampal region29.26
21.09
BckdksAMYStriatum-like amygdalar nuclei8.19
5.19
BckdkSTRStriatum6.5
4.5
BckdkSTRdStriatum dorsal region4.29
3.33
BckdkSTRvStriatum ventral region12.54
7.39
BckdkTHThalamus9.91
7.45
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00131334 17 262 278 FPFIPMPLDYILPELLK 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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