AutismKB 2.0

Annotation Detail for KLHL18


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:KLHL18 ( FLJ13703,FLJ61265,KIAA0795 )
Gene Full Name: kelch-like 18 (Drosophila)
Band: 3p21.31
Quick LinksEntrez ID:23276; OMIM: NA; Uniprot ID:KLH18_HUMAN; ENSEMBL ID: ENSG00000114648; HGNC ID: 29120
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 body0 / 707610 
blastocyst1 / 6231916
fetus23 / 56401240
neonate0 / 310970 
infant1 / 2362042
juvenile1 / 5555617
adult71 / 193912136
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) tumor6 / 9417863
cervical tumor1 / 3436629
chondrosarcoma2 / 8282324
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor8 / 26384530
glioma5 / 10688346
head and neck tumor3 / 13630222
kidney tumor0 / 689590 
leukemia5 / 9584252
liver tumor1 / 9635910
lung tumor1 / 1031279
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal115 / 336030734
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer4 / 10268038
retinoblastoma2 / 4635643
skin tumor4 / 12494932
soft tissue/muscle tissue tumor3 / 12519123
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites1 / 4001524
bladder0 / 297570 
blood6 / 12347848
bone3 / 7165541
bone marrow2 / 4880140
brain39 / 110098935
cervix1 / 4817120
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye9 / 21105442
heart4 / 8962644
intestine8 / 23447234
kidney6 / 21177728
larynx0 / 241450 
liver2 / 2077439
lung6 / 33697417
lymph0 / 442700 
lymph node7 / 9161076
mammary gland8 / 15327152
mouth2 / 6705229
muscle11 / 107715102
nerve2 / 15768126
ovary0 / 1020510 
pancreas4 / 21481218
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate4 / 18934521
salivary gland0 / 201550 
skin5 / 21057423
spleen3 / 5395255
stomach0 / 966190 
testis10 / 33044230
thymus3 / 8113136
thyroid2 / 4747342
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus7 / 23287830
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212882_at
Cell line Expression level Expression bar
721_B_lymphoblasts7.55
Adipocyte3.25
AdrenalCortex3.35
Adrenalgland2.75
Amygdala3.5
Appendix3.3
AtrioventricularNode2.5
BDCA4+_DentriticCells5.1
Bonemarrow3.25
BronchialEpithelialCells3.3
CD105+_Endothelial26.15
CD14+_Monocytes18.2
CD19+_BCells(neg._sel.)6.15
CD33+_Myeloid11.3
CD34+5.6
CD4+_Tcells5.65
CD56+_NKCells6.7
CD71+_EarlyErythroid3.5
CD8+_Tcells3.65
CardiacMyocytes4.1
Caudatenucleus2.95
Cerebellum3.1
CerebellumPeduncles3.85
CiliaryGanglion2.25
CingulateCortex3.45
Colorectaladenocarcinoma3.3
DorsalRootGanglion2.45
FetalThyroid3.2
Fetalbrain3.55
Fetalliver2.8
Fetallung2.75
GlobusPallidus2.4
Heart4.1
Hypothalamus4.15
Kidney2.6
Leukemia_chronicMyelogenousK-5622.95
Leukemia_promyelocytic-HL-606.4
Leukemialymphoblastic(MOLT-4)2.65
Liver4.25
Lung3.7
Lymphnode2.85
Lymphoma_burkitts(Daudi)4.25
Lymphoma_burkitts(Raji)4.5
MedullaOblongata3.05
OccipitalLobe3
OlfactoryBulb2.6
Ovary2.2
Pancreas2.6
PancreaticIslet3.5
ParietalLobe3.4
Pituitary3.9
Placenta3.45
Pons3.15
PrefrontalCortex4.25
Prostate3.9
Salivarygland2.6
SkeletalMuscle3.65
Skin2.45
SmoothMuscle3.8
Spinalcord3.5
SubthalamicNucleus3
SuperiorCervicalGanglion3.65
TemporalLobe3
Testis2.85
TestisGermCell2.8
TestisIntersitial3.45
TestisLeydigCell3.25
TestisSeminiferousTubule2.8
Thalamus3.35
Thymus2.75
Thyroid4.15
Tongue3.15
Tonsil3.15
Trachea2.75
TrigeminalGanglion3.25
Uterus2.75
UterusCorpus2.9
WholeBlood3.8
Wholebrain3.4
colon3.3
pineal_day19.5
pineal_night22.08
retina5.25
small_intestine3.15
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_24_P15043
  • 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
Amygdala5.82 ± 0.65
Basal Forebrain5.86 ± 0.37
Basal Part of Pons6.3 ± 0.36
Cerebellar Cortex6.44 ± 0.17
Cerebellar Nuclei5.83 ± 0.61
Claustrum5.79 ± 0.55
Epithalamus5.8 ± 0.51
Frontal Lobe6.18 ± 0.38
Globus Pallidus4.95 ± 0.22
Hypothalamus6.12 ± 0.55
Insula6.35 ± 0.23
Limbic Lobe6.07 ± 0.47
Mesencephalon5.96 ± 0.5
Myelencephalon5.94 ± 0.54
Occipital Lobe5.83 ± 0.52
Parietal Lobe6.1 ± 0.44
Pontine Tegmentum6.11 ± 0.41
Striatum5.51 ± 0.42
Subthalamus6.01 ± 0.57
Temporal Lobe6.27 ± 0.38
Thalamus5.95 ± 0.41
White Matter5.06 ± 0.43
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Klhl18CBCerebellum33.58
47
Klhl18CTXCerebral cortex48.54
34.71
Klhl18HIPHippocampal region27.4
30.16
Klhl18HPFHippocampal formation36.81
33.89
Klhl18HYHypothalamus18.3
14.04
Klhl18LSXLateral septal complex15.39
10.97
Klhl18MBMidbrain23.09
19.95
Klhl18MYMedulla30.5
31.95
Klhl18OLFOlfactory bulb53.95
42.54
Klhl18PPons25.39
24.92
Klhl18PALPallidum29.1
24.97
Klhl18RHPRetrohippocampal region52.5
38.84
Klhl18sAMYStriatum-like amygdalar nuclei45.04
33.71
Klhl18STRStriatum29.9
21.15
Klhl18STRdStriatum dorsal region28.05
19.62
Klhl18STRvStriatum ventral region31.56
21.75
Klhl18THThalamus35.99
30.15
Peptide Top

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