AutismKB 2.0

Annotation Detail for KLHL12


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Basic Information Top
Gene Symbol:KLHL12 ( C3IP1,DKIR,FLJ27152 )
Gene Full Name: kelch-like 12 (Drosophila)
Band: 1q32.1
Quick LinksEntrez ID:59349; OMIM: NA; Uniprot ID:KLH12_HUMAN; ENSEMBL ID: ENSG00000117153; HGNC ID: 19360
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 body2 / 7076128
blastocyst6 / 6231996
fetus44 / 56401278
neonate2 / 3109764
infant2 / 2362084
juvenile5 / 5555689
adult113 / 193912158
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) tumor7 / 9417874
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor4 / 11424635
esophageal tumor0 / 172900 
gastrointestinal tumor15 / 119369125
germ cell tumor34 / 263845128
glioma3 / 10688328
head and neck tumor11 / 13630280
kidney tumor4 / 6895958
leukemia8 / 9584283
liver tumor6 / 9635962
lung tumor14 / 103127135
lymphoma9 / 71755125
non-neoplasia8 / 9725082
normal217 / 336030764
ovarian tumor0 / 766820 
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor3 / 12494924
soft tissue/muscle tissue tumor5 / 12519139
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue2 / 13106152
adrenal gland1 / 3319730
ascites5 / 40015124
bladder0 / 297570 
blood5 / 12347840
bone2 / 7165527
bone marrow0 / 488010 
brain69 / 110098962
cervix0 / 481710 
connective tissue12 / 14925580
ear1 / 1621261
embryonic tissue9 / 21572241
esophagus0 / 202090 
eye11 / 21105452
heart1 / 8962611
intestine10 / 23447242
kidney8 / 21177737
larynx0 / 241450 
liver9 / 20774343
lung27 / 33697480
lymph3 / 4427067
lymph node7 / 9161076
mammary gland13 / 15327184
mouth9 / 67052134
muscle4 / 10771537
nerve1 / 1576863
ovary1 / 1020519
pancreas8 / 21481237
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland0 / 165850 
placenta16 / 28082556
prostate3 / 18934515
salivary gland0 / 201550 
skin11 / 21057452
spleen2 / 5395237
stomach13 / 96619134
testis69 / 330442208
thymus1 / 8113112
thyroid5 / 47473105
tonsil0 / 169990 
trachea11 / 52413209
umbilical cord0 / 136800 
uterus8 / 23287834
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 219931_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.1
Adipocyte4.7
AdrenalCortex5.3
Adrenalgland4.1
Amygdala4.9
Appendix4.8
AtrioventricularNode3.7
BDCA4+_DentriticCells5.2
Bonemarrow5.3
BronchialEpithelialCells4.95
CD105+_Endothelial4.75
CD14+_Monocytes5
CD19+_BCells(neg._sel.)4.9
CD33+_Myeloid6
CD34+5.85
CD4+_Tcells5.1
CD56+_NKCells5.55
CD71+_EarlyErythroid9.55
CD8+_Tcells4.45
CardiacMyocytes6
Caudatenucleus4.2
Cerebellum4
CerebellumPeduncles5.5
CiliaryGanglion3.45
CingulateCortex4.95
Colorectaladenocarcinoma4.7
DorsalRootGanglion3.6
FetalThyroid4.95
Fetalbrain4.65
Fetalliver4.25
Fetallung3.8
GlobusPallidus3.65
Heart6.15
Hypothalamus5.25
Kidney4
Leukemia_chronicMyelogenousK-5624.3
Leukemia_promyelocytic-HL-605.55
Leukemialymphoblastic(MOLT-4)4.6
Liver6.2
Lung5.1
Lymphnode4.1
Lymphoma_burkitts(Daudi)6.25
Lymphoma_burkitts(Raji)6.7
MedullaOblongata4.35
OccipitalLobe4.95
OlfactoryBulb3.7
Ovary3.25
Pancreas3.85
PancreaticIslet5.15
ParietalLobe5.4
Pituitary7.05
Placenta4.85
Pons4.75
PrefrontalCortex5.9
Prostate5.45
Salivarygland4.05
SkeletalMuscle6.7
Skin3.75
SmoothMuscle5.3
Spinalcord5.1
SubthalamicNucleus4.3
SuperiorCervicalGanglion5.7
TemporalLobe4.6
Testis15.4
TestisGermCell10.85
TestisIntersitial15.35
TestisLeydigCell11.8
TestisSeminiferousTubule12.8
Thalamus4.9
Thymus3.65
Thyroid5.95
Tongue4.75
Tonsil4.7
Trachea3.95
TrigeminalGanglion4.95
Uterus3.85
UterusCorpus5.1
WholeBlood5.2
Wholebrain4.15
colon4.75
pineal_day5.96
pineal_night5.78
retina5.825
small_intestine4.55
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P98534
  • 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
Amygdala4.64 ± 0.72
Basal Forebrain4.33 ± 0.27
Basal Part of Pons4.7 ± 0.33
Cerebellar Cortex4.16 ± 0.43
Cerebellar Nuclei4.46 ± 0.39
Claustrum4.27 ± 0.65
Epithalamus4.19 ± 0.32
Frontal Lobe4.58 ± 0.43
Globus Pallidus4.39 ± 0.48
Hypothalamus4.72 ± 0.46
Insula4.67 ± 0.36
Limbic Lobe4.44 ± 0.58
Mesencephalon4.49 ± 0.67
Myelencephalon4.37 ± 0.56
Occipital Lobe3.96 ± 0.65
Parietal Lobe4.51 ± 0.41
Pontine Tegmentum4.37 ± 0.54
Striatum4.04 ± 0.64
Subthalamus4.6 ± 0.57
Temporal Lobe4.59 ± 0.39
Thalamus4.33 ± 0.56
White Matter3.98 ± 0.66
Mouse Brain ISH
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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