AutismKB 2.0

Annotation Detail for KIAA0528


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Basic Information Top
Gene Symbol:KIAA0528 ( DKFZp779N2044 )
Gene Full Name: KIAA0528
Band: 12p12.1
Quick LinksEntrez ID:9847; OMIM: NA; Uniprot ID:K0528_HUMAN; ENSEMBL ID: ENSG00000111731; HGNC ID:
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 body6 / 7076184
blastocyst4 / 6231964
fetus22 / 56401239
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult71 / 193912136
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) tumor0 / 941780 
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor28 / 263845106
glioma0 / 1068830 
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia2 / 9584220
liver tumor0 / 963590 
lung tumor2 / 10312719
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal132 / 336030739
ovarian tumor3 / 7668239
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer1 / 1026809
retinoblastoma0 / 463560 
skin tumor4 / 12494932
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor6 / 9025766
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder1 / 2975733
blood2 / 12347816
bone1 / 7165513
bone marrow2 / 4880140
brain36 / 110098932
cervix1 / 4817120
connective tissue4 / 14925526
ear2 / 16212123
embryonic tissue14 / 21572264
esophagus0 / 202090 
eye4 / 21105418
heart0 / 896260 
intestine10 / 23447242
kidney12 / 21177756
larynx1 / 2414541
liver4 / 20774319
lung15 / 33697444
lymph0 / 442700 
lymph node7 / 9161076
mammary gland2 / 15327113
mouth1 / 6705214
muscle6 / 10771555
nerve1 / 1576863
ovary4 / 10205139
pancreas6 / 21481227
parathyroid0 / 205390 
pharynx2 / 4132848
pituitary gland0 / 165850 
placenta9 / 28082532
prostate2 / 18934510
salivary gland1 / 2015549
skin4 / 21057418
spleen0 / 539520 
stomach1 / 9661910
testis22 / 33044266
thymus2 / 8113124
thyroid3 / 4747363
tonsil0 / 169990 
trachea5 / 5241395
umbilical cord0 / 136800 
uterus17 / 23287872
vascular5 / 5178096
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212943_at
Cell line Expression level Expression bar
721_B_lymphoblasts38.3
Adipocyte9.7
AdrenalCortex14.05
Adrenalgland8.95
Amygdala59.15
Appendix18.5
AtrioventricularNode9.45
BDCA4+_DentriticCells41.75
Bonemarrow11.55
BronchialEpithelialCells10.5
CD105+_Endothelial112.75
CD14+_Monocytes60.4
CD19+_BCells(neg._sel.)95.8
CD33+_Myeloid81.4
CD34+83
CD4+_Tcells100.1
CD56+_NKCells70.4
CD71+_EarlyErythroid40.4
CD8+_Tcells84.75
CardiacMyocytes14.85
Caudatenucleus14.25
Cerebellum9
CerebellumPeduncles14.5
CiliaryGanglion9.55
CingulateCortex19.65
Colorectaladenocarcinoma23.55
DorsalRootGanglion9.15
FetalThyroid16.75
Fetalbrain83.7
Fetalliver9.8
Fetallung19.1
GlobusPallidus12.4
Heart21.25
Hypothalamus43.65
Kidney8.65
Leukemia_chronicMyelogenousK-56210.05
Leukemia_promyelocytic-HL-6017.45
Leukemialymphoblastic(MOLT-4)24.9
Liver11.4
Lung6.65
Lymphnode31.15
Lymphoma_burkitts(Daudi)18.6
Lymphoma_burkitts(Raji)26.3
MedullaOblongata13
OccipitalLobe22.15
OlfactoryBulb12.7
Ovary8.85
Pancreas10.6
PancreaticIslet15.05
ParietalLobe14.15
Pituitary25.7
Placenta7.1
Pons11.65
PrefrontalCortex46.45
Prostate12.5
Salivarygland10.95
SkeletalMuscle18.4
Skin10.8
SmoothMuscle11.9
Spinalcord23.4
SubthalamicNucleus15.75
SuperiorCervicalGanglion20.05
TemporalLobe13.5
Testis9
TestisGermCell17.35
TestisIntersitial10.8
TestisLeydigCell15.1
TestisSeminiferousTubule11.5
Thalamus15.25
Thymus8.4
Thyroid60.2
Tongue12.7
Tonsil12.85
Trachea9.35
TrigeminalGanglion13.9
Uterus36.8
UterusCorpus14.25
WholeBlood17.8
Wholebrain11.75
colon42.65
pineal_day173.7
pineal_night167.38
retina15.025
small_intestine16
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P151027
  • 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
Amygdala9.62 ± 0.21
Basal Forebrain9.52 ± 0.14
Basal Part of Pons9.96 ± 0.27
Cerebellar Cortex9.89 ± 0.14
Cerebellar Nuclei9.48 ± 0.47
Claustrum9.85 ± 0.22
Epithalamus9.59 ± 0.3
Frontal Lobe9.53 ± 0.26
Globus Pallidus8.89 ± 0.22
Hypothalamus9.76 ± 0.32
Insula9.58 ± 0.28
Limbic Lobe9.72 ± 0.32
Mesencephalon9.53 ± 0.3
Myelencephalon9.58 ± 0.32
Occipital Lobe9.99 ± 0.22
Parietal Lobe9.72 ± 0.25
Pontine Tegmentum9.52 ± 0.23
Striatum9.33 ± 0.23
Subthalamus9.78 ± 0.17
Temporal Lobe9.64 ± 0.26
Thalamus9.51 ± 0.23
White Matter9.11 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
5730419I09RikCBCerebellum30.81
30.57
5730419I09RikCTXCerebral cortex37.11
25.17
5730419I09RikHIPHippocampal region52.54
85.28
5730419I09RikHPFHippocampal formation49.48
62.77
5730419I09RikHYHypothalamus8.72
5.9
5730419I09RikLSXLateral septal complex18.77
13.04
5730419I09RikMBMidbrain8.5
6.46
5730419I09RikMYMedulla15.46
14.45
5730419I09RikOLFOlfactory bulb43.63
37.77
5730419I09RikPPons13.7
11.47
5730419I09RikPALPallidum9.81
7.67
5730419I09RikRHPRetrohippocampal region43.68
32.32
5730419I09RiksAMYStriatum-like amygdalar nuclei38.31
24.43
5730419I09RikSTRStriatum36.19
23.75
5730419I09RikSTRdStriatum dorsal region44.69
29.28
5730419I09RikSTRvStriatum ventral region18.43
13.02
5730419I09RikTHThalamus12.17
10.07
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00498722 29 816 844 ASTDNEELLQFPLELCSDSLPSHPFPPAK 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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