AutismKB 2.0

Annotation Detail for KBTBD4


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KBTBD4 ( BKLHD4,FLJ10450,HSPC252 )
Gene Full Name: kelch repeat and BTB (POZ) domain containing 4
Band: 11p11.2
Quick LinksEntrez ID:55709; OMIM: NA; Uniprot ID:KBTB4_HUMAN; ENSEMBL ID: ENSG00000123444; HGNC ID: 23761
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
blastocyst2 / 6231932
fetus33 / 56401258
neonate1 / 3109732
infant0 / 236200 
juvenile4 / 5555671
adult37 / 193912119
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) tumor3 / 9417831
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor1 / 1729057
gastrointestinal tumor7 / 11936958
germ cell tumor14 / 26384553
glioma1 / 1068839
head and neck tumor5 / 13630236
kidney tumor4 / 6895958
leukemia5 / 9584252
liver tumor2 / 9635920
lung tumor0 / 1031270 
lymphoma4 / 7175555
non-neoplasia3 / 9725030
normal127 / 336030737
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS5 / 12568039
prostate cancer0 / 1026800 
retinoblastoma3 / 4635664
skin tumor4 / 12494932
soft tissue/muscle tissue tumor2 / 12519115
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites0 / 400150 
bladder1 / 2975733
blood8 / 12347864
bone1 / 7165513
bone marrow1 / 4880120
brain76 / 110098969
cervix0 / 481710 
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue6 / 21572227
esophagus1 / 2020949
eye6 / 21105428
heart1 / 8962611
intestine1 / 2344724
kidney8 / 21177737
larynx0 / 241450 
liver4 / 20774319
lung0 / 3369740 
lymph2 / 4427045
lymph node1 / 9161010
mammary gland4 / 15327126
mouth3 / 6705244
muscle2 / 10771518
nerve0 / 157680 
ovary1 / 1020519
pancreas0 / 2148120 
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta4 / 28082514
prostate2 / 18934510
salivary gland0 / 201550 
skin4 / 21057418
spleen7 / 53952129
stomach7 / 9661972
testis18 / 33044254
thymus2 / 8113124
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus4 / 23287817
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 218569_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts13.35
Adipocyte11.9
AdrenalCortex14.35
Adrenalgland12.1
Amygdala11.8
Appendix12.5
AtrioventricularNode15.5
BDCA4+_DentriticCells15.85
Bonemarrow13.6
BronchialEpithelialCells10.7
CD105+_Endothelial12.4
CD14+_Monocytes14.45
CD19+_BCells(neg._sel.)39.75
CD33+_Myeloid15.6
CD34+20.9
CD4+_Tcells13
CD56+_NKCells16.6
CD71+_EarlyErythroid13.05
CD8+_Tcells17.75
CardiacMyocytes17.05
Caudatenucleus16.45
Cerebellum10.4
CerebellumPeduncles15
CiliaryGanglion12.5
CingulateCortex12.45
Colorectaladenocarcinoma12.55
DorsalRootGanglion13.05
FetalThyroid14.85
Fetalbrain14.45
Fetalliver11.15
Fetallung8.45
GlobusPallidus12.2
Heart22.9
Hypothalamus13.6
Kidney10.9
Leukemia_chronicMyelogenousK-56210.35
Leukemia_promyelocytic-HL-6011.1
Leukemialymphoblastic(MOLT-4)9.55
Liver16.8
Lung14.25
Lymphnode10.95
Lymphoma_burkitts(Daudi)21.2
Lymphoma_burkitts(Raji)17.8
MedullaOblongata10.75
OccipitalLobe11.15
OlfactoryBulb9.75
Ovary8.4
Pancreas10.25
PancreaticIslet17.9
ParietalLobe15.2
Pituitary15.55
Placenta11.3
Pons13.3
PrefrontalCortex14.3
Prostate15.6
Salivarygland10.8
SkeletalMuscle14.6
Skin14.2
SmoothMuscle14.1
Spinalcord12.5
SubthalamicNucleus14.3
SuperiorCervicalGanglion17.2
TemporalLobe11.8
Testis11.85
TestisGermCell10.3
TestisIntersitial13.55
TestisLeydigCell13.6
TestisSeminiferousTubule10.85
Thalamus14.4
Thymus10.6
Thyroid17.8
Tongue15
Tonsil12.75
Trachea10.45
TrigeminalGanglion16.4
Uterus9.85
UterusCorpus11.55
WholeBlood13.6
Wholebrain12
colon12.6
pineal_day19.18
pineal_night15.56
retina23.475
small_intestine11.5
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P12950
  • 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
Amygdala2.8 ± 0.68
Basal Forebrain2.27 ± 0.53
Basal Part of Pons2.33 ± 0.57
Cerebellar Cortex2.43 ± 0.69
Cerebellar Nuclei2.31 ± 0.51
Claustrum2.73 ± 0.7
Epithalamus2.57 ± 0.32
Frontal Lobe2.37 ± 0.59
Globus Pallidus2.08 ± 0.66
Hypothalamus2.26 ± 0.45
Insula2.39 ± 1.16
Limbic Lobe2.26 ± 0.69
Mesencephalon2.46 ± 0.66
Myelencephalon2.35 ± 0.65
Occipital Lobe2.42 ± 0.74
Parietal Lobe2.36 ± 0.76
Pontine Tegmentum2.37 ± 0.67
Striatum2.44 ± 0.8
Subthalamus2.09 ± 0.71
Temporal Lobe2.36 ± 0.63
Thalamus2.28 ± 0.66
White Matter1.86 ± 0.49
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kbtbd4CBCerebellum2.73
4.09
Kbtbd4CTXCerebral cortex16.7
13.31
Kbtbd4HIPHippocampal region16.37
18.13
Kbtbd4HPFHippocampal formation12.26
12.3
Kbtbd4HYHypothalamus2.41
1.81
Kbtbd4LSXLateral septal complex0.14
0.06
Kbtbd4MBMidbrain2.32
4.42
Kbtbd4MYMedulla2.06
2.98
Kbtbd4OLFOlfactory bulb7.32
5.75
Kbtbd4PPons0.57
1.49
Kbtbd4PALPallidum3.74
2.97
Kbtbd4RHPRetrohippocampal region6.19
5
Kbtbd4sAMYStriatum-like amygdalar nuclei4.3
3.3
Kbtbd4STRStriatum2.67
2.01
Kbtbd4STRdStriatum dorsal region1.84
1.47
Kbtbd4STRvStriatum ventral region5.85
3.88
Kbtbd4THThalamus12.01
11.53
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00133786 18 172 189 THLAQLQNTEEFLHLPHR 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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved