AutismKB 2.0

Annotation Detail for KLHL22


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Basic Information Top
Gene Symbol:KLHL22 ( KELCHL )
Gene Full Name: kelch-like 22 (Drosophila)
Band: 22q11.21
Quick LinksEntrez ID:84861; OMIM: NA; Uniprot ID:KLH22_HUMAN; ENSEMBL ID: ENSG00000099910; HGNC ID: 25888
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
blastocyst4 / 6231964
fetus40 / 56401270
neonate2 / 3109764
infant3 / 23620127
juvenile6 / 55556107
adult115 / 193912159
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) tumor2 / 9417821
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor3 / 11424626
esophageal tumor1 / 1729057
gastrointestinal tumor3 / 11936925
germ cell tumor20 / 26384575
glioma19 / 106883177
head and neck tumor11 / 13630280
kidney tumor5 / 6895972
leukemia4 / 9584241
liver tumor2 / 9635920
lung tumor6 / 10312758
lymphoma3 / 7175541
non-neoplasia3 / 9725030
normal205 / 336030761
ovarian tumor9 / 76682117
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS25 / 125680198
prostate cancer16 / 102680155
retinoblastoma2 / 4635643
skin tumor1 / 1249498
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor0 / 902570 
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood5 / 12347840
bone6 / 7165583
bone marrow0 / 488010 
brain98 / 110098989
cervix2 / 4817141
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue14 / 21572264
esophagus1 / 2020949
eye10 / 21105447
heart5 / 8962655
intestine14 / 23447259
kidney22 / 211777103
larynx4 / 24145165
liver5 / 20774324
lung32 / 33697494
lymph3 / 4427067
lymph node7 / 9161076
mammary gland3 / 15327119
mouth2 / 6705229
muscle5 / 10771546
nerve2 / 15768126
ovary12 / 102051117
pancreas7 / 21481232
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta22 / 28082578
prostate19 / 189345100
salivary gland3 / 20155148
skin8 / 21057437
spleen3 / 5395255
stomach2 / 9661920
testis13 / 33044239
thymus2 / 8113124
thyroid6 / 47473126
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus11 / 23287847
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 221837_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.3
Adipocyte5.15
AdrenalCortex7.7
Adrenalgland4.6
Amygdala5.5
Appendix5.3
AtrioventricularNode4.05
BDCA4+_DentriticCells6.1
Bonemarrow5.25
BronchialEpithelialCells5.05
CD105+_Endothelial4.7
CD14+_Monocytes5.35
CD19+_BCells(neg._sel.)5.45
CD33+_Myeloid6.75
CD34+6.3
CD4+_Tcells6.6
CD56+_NKCells5.95
CD71+_EarlyErythroid4.85
CD8+_Tcells5.15
CardiacMyocytes6.9
Caudatenucleus4.75
Cerebellum8.35
CerebellumPeduncles7.75
CiliaryGanglion3.75
CingulateCortex5.6
Colorectaladenocarcinoma5.3
DorsalRootGanglion4
FetalThyroid4.95
Fetalbrain5.1
Fetalliver4.5
Fetallung4.05
GlobusPallidus4.25
Heart17
Hypothalamus5.65
Kidney8.25
Leukemia_chronicMyelogenousK-5624.7
Leukemia_promyelocytic-HL-604.55
Leukemialymphoblastic(MOLT-4)4.1
Liver13.2
Lung6.35
Lymphnode4.35
Lymphoma_burkitts(Daudi)6.45
Lymphoma_burkitts(Raji)7.4
MedullaOblongata4.85
OccipitalLobe4.7
OlfactoryBulb4
Ovary3.45
Pancreas4.1
PancreaticIslet5.35
ParietalLobe6.15
Pituitary9.5
Placenta5.2
Pons7.5
PrefrontalCortex6.5
Prostate6.15
Salivarygland4.1
SkeletalMuscle6.65
Skin4.2
SmoothMuscle5.85
Spinalcord5.6
SubthalamicNucleus6.9
SuperiorCervicalGanglion6.05
TemporalLobe4.85
Testis4.5
TestisGermCell4.25
TestisIntersitial4.4
TestisLeydigCell5.25
TestisSeminiferousTubule4.5
Thalamus5.3
Thymus4.1
Thyroid7.85
Tongue5.2
Tonsil5.7
Trachea4.4
TrigeminalGanglion5.4
Uterus4.5
UterusCorpus5
WholeBlood5.7
Wholebrain7.3
colon5.15
pineal_day6.38
pineal_night7.2
retina6.3
small_intestine5.05
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P143580
  • 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
Amygdala3.96 ± 0.7
Basal Forebrain3.72 ± 0.34
Basal Part of Pons3.54 ± 0.53
Cerebellar Cortex4.39 ± 0.39
Cerebellar Nuclei3.59 ± 0.59
Claustrum3.65 ± 0.78
Epithalamus3.86 ± 0.63
Frontal Lobe3.95 ± 0.58
Globus Pallidus3.18 ± 0.43
Hypothalamus3.66 ± 0.64
Insula4.09 ± 0.47
Limbic Lobe3.83 ± 0.63
Mesencephalon3.85 ± 0.7
Myelencephalon3.81 ± 0.61
Occipital Lobe3.58 ± 0.57
Parietal Lobe3.76 ± 0.66
Pontine Tegmentum3.87 ± 0.67
Striatum3.21 ± 0.61
Subthalamus3.64 ± 0.77
Temporal Lobe4.03 ± 0.53
Thalamus3.71 ± 0.6
White Matter3.25 ± 0.76
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Klhl22CBCerebellum42.6
68.17
Klhl22CTXCerebral cortex100
100
Klhl22HIPHippocampal region97.97
100
Klhl22HPFHippocampal formation98.73
100
Klhl22HYHypothalamus69.07
60.06
Klhl22LSXLateral septal complex63.58
49.12
Klhl22MBMidbrain71.31
69.13
Klhl22MYMedulla55.08
61.43
Klhl22OLFOlfactory bulb94.69
95.05
Klhl22PPons59.16
64.16
Klhl22PALPallidum61.66
58.16
Klhl22RHPRetrohippocampal region100
98.78
Klhl22sAMYStriatum-like amygdalar nuclei79.17
66.51
Klhl22STRStriatum68.42
53.18
Klhl22STRdStriatum dorsal region65.04
50.78
Klhl22STRvStriatum ventral region75.9
55.55
Klhl22THThalamus79.11
71.57
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


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