AutismKB 2.0

Annotation Detail for KBTBD11


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Basic Information Top
Gene Symbol:KBTBD11 ( KIAA0711,KLHDC7C )
Gene Full Name: kelch repeat and BTB (POZ) domain containing 11
Band: 8p23.3
Quick LinksEntrez ID:9920; OMIM: NA; Uniprot ID:KBTBB_HUMAN; ENSEMBL ID: ENSG00000176595; HGNC ID: 29104
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 body3 / 7076142
blastocyst1 / 6231916
fetus55 / 56401297
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult41 / 193912121
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor0 / 127940 
bladder carcinoma0 / 174750 
breast (mammary gland) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma0 / 828230 
colorectal tumor0 / 1142460 
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor4 / 26384515
glioma2 / 10688318
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia4 / 9725041
normal153 / 336030745
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer0 / 1026800 
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone0 / 716550 
bone marrow0 / 488010 
brain95 / 110098986
cervix0 / 481710 
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue7 / 21572232
esophagus0 / 202090 
eye11 / 21105452
heart1 / 8962611
intestine5 / 23447221
kidney11 / 21177751
larynx1 / 2414541
liver1 / 2077434
lung2 / 3369745
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth3 / 6705244
muscle3 / 10771527
nerve0 / 157680 
ovary0 / 1020510 
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta1 / 2808253
prostate4 / 18934521
salivary gland1 / 2015549
skin2 / 2105749
spleen1 / 5395218
stomach0 / 966190 
testis1 / 3304423
thymus3 / 8113136
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204301_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.15
Adipocyte6.85
AdrenalCortex9.65
Adrenalgland16
Amygdala78.2
Appendix8.95
AtrioventricularNode7.3
BDCA4+_DentriticCells7.7
Bonemarrow19.25
BronchialEpithelialCells4.75
CD105+_Endothelial5.1
CD14+_Monocytes28.4
CD19+_BCells(neg._sel.)5.1
CD33+_Myeloid35.1
CD34+12.35
CD4+_Tcells7.45
CD56+_NKCells7.8
CD71+_EarlyErythroid6.55
CD8+_Tcells5.45
CardiacMyocytes6.6
Caudatenucleus54.1
Cerebellum45.45
CerebellumPeduncles40
CiliaryGanglion9.4
CingulateCortex104.95
Colorectaladenocarcinoma4.85
DorsalRootGanglion6.9
FetalThyroid10.4
Fetalbrain130.7
Fetalliver5.55
Fetallung5
GlobusPallidus87.5
Heart8.95
Hypothalamus66
Kidney9.85
Leukemia_chronicMyelogenousK-5624.4
Leukemia_promyelocytic-HL-606.65
Leukemialymphoblastic(MOLT-4)25.4
Liver7.5
Lung6
Lymphnode5.45
Lymphoma_burkitts(Daudi)8.75
Lymphoma_burkitts(Raji)7.8
MedullaOblongata74.25
OccipitalLobe84.1
OlfactoryBulb13.25
Ovary3.15
Pancreas7
PancreaticIslet7.05
ParietalLobe96.7
Pituitary9.75
Placenta4.9
Pons58.65
PrefrontalCortex343.2
Prostate9.6
Salivarygland5.65
SkeletalMuscle10.25
Skin6.85
SmoothMuscle7.45
Spinalcord35.8
SubthalamicNucleus117.15
SuperiorCervicalGanglion10
TemporalLobe85.15
Testis4.85
TestisGermCell5.2
TestisIntersitial4.55
TestisLeydigCell7.25
TestisSeminiferousTubule7.5
Thalamus47.75
Thymus7.1
Thyroid8.9
Tongue8.65
Tonsil4.95
Trachea4.35
TrigeminalGanglion7.1
Uterus3.65
UterusCorpus6.35
WholeBlood9.8
Wholebrain109.1
colon8.8
pineal_day65.7
pineal_night104.82
retina37.9
small_intestine16.65
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_25_PI416383280
  • 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
Amygdala11.46 ± 0.28
Basal Forebrain11.59 ± 0.14
Basal Part of Pons11.57 ± 0.22
Cerebellar Cortex11.42 ± 0.19
Cerebellar Nuclei11.22 ± 0.22
Claustrum11.67 ± 0.23
Epithalamus11.37 ± 0.19
Frontal Lobe11.51 ± 0.24
Globus Pallidus10.84 ± 0.22
Hypothalamus11.3 ± 0.15
Insula11.56 ± 0.21
Limbic Lobe11.42 ± 0.36
Mesencephalon11.28 ± 0.29
Myelencephalon11.36 ± 0.26
Occipital Lobe11.33 ± 0.43
Parietal Lobe11.61 ± 0.29
Pontine Tegmentum11.34 ± 0.31
Striatum11.04 ± 0.5
Subthalamus11.27 ± 0.14
Temporal Lobe11.44 ± 0.26
Thalamus11.01 ± 0.27
White Matter10.99 ± 0.17
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Kbtbd11CBCerebellum100
100
Kbtbd11CTXCerebral cortex100
100
Kbtbd11HIPHippocampal region100
100
Kbtbd11HPFHippocampal formation100
100
Kbtbd11HYHypothalamus100
100
Kbtbd11LSXLateral septal complex100
100
Kbtbd11MBMidbrain100
100
Kbtbd11MYMedulla100
100
Kbtbd11OLFOlfactory bulb100
100
Kbtbd11PPons100
100
Kbtbd11PALPallidum100
100
Kbtbd11RHPRetrohippocampal region100
100
Kbtbd11sAMYStriatum-like amygdalar nuclei100
100
Kbtbd11STRStriatum100
100
Kbtbd11STRdStriatum dorsal region100
100
Kbtbd11STRvStriatum ventral region100
100
Kbtbd11THThalamus100
100
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
KBTBB_HUMAN_197 16 197 212 AGVRPDNVAEVVAGAR PRIDE
PAp00064609 16 253 268 DAAYCFMSDHYLEVLR 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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