AutismKB 2.0

Annotation Detail for KIAA0232


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Basic Information Top
Gene Symbol:KIAA0232 ( - )
Gene Full Name: KIAA0232
Band: 4p16.1
Quick LinksEntrez ID:9778; OMIM: NA; Uniprot ID:K0232_HUMAN; ENSEMBL ID: ENSG00000170871; HGNC ID: 28992
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
blastocyst2 / 6231932
fetus23 / 56401240
neonate2 / 3109764
infant1 / 2362042
juvenile2 / 5555635
adult77 / 193912139
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) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma3 / 8282336
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor13 / 26384549
glioma0 / 1068830 
head and neck tumor1 / 1363027
kidney tumor0 / 689590 
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor1 / 1031279
lymphoma2 / 7175527
non-neoplasia5 / 9725051
normal164 / 336030748
ovarian tumor1 / 7668213
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer1 / 1026809
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor2 / 9025722
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites2 / 4001549
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow2 / 4880140
brain41 / 110098937
cervix3 / 4817162
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue13 / 21572260
esophagus0 / 202090 
eye13 / 21105461
heart4 / 8962644
intestine4 / 23447217
kidney15 / 21177770
larynx0 / 241450 
liver5 / 20774324
lung16 / 33697447
lymph2 / 4427045
lymph node3 / 9161032
mammary gland5 / 15327132
mouth2 / 6705229
muscle1 / 1077159
nerve3 / 15768190
ovary1 / 1020519
pancreas10 / 21481246
parathyroid2 / 2053997
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta7 / 28082524
prostate13 / 18934568
salivary gland0 / 201550 
skin7 / 21057433
spleen0 / 539520 
stomach0 / 966190 
testis8 / 33044224
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea3 / 5241357
umbilical cord2 / 13680146
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 212441_at
Cell line Expression level Expression bar
721_B_lymphoblasts68.1
Adipocyte31.35
AdrenalCortex53.05
Adrenalgland32.1
Amygdala416.85
Appendix19.4
AtrioventricularNode13.65
BDCA4+_DentriticCells96.35
Bonemarrow29.25
BronchialEpithelialCells36.1
CD105+_Endothelial54.9
CD14+_Monocytes130.2
CD19+_BCells(neg._sel.)39.85
CD33+_Myeloid387.65
CD34+49.8
CD4+_Tcells56.05
CD56+_NKCells131.6
CD71+_EarlyErythroid721.35
CD8+_Tcells105.55
CardiacMyocytes49.65
Caudatenucleus202.05
Cerebellum33.3
CerebellumPeduncles102.2
CiliaryGanglion19.65
CingulateCortex212.15
Colorectaladenocarcinoma41.6
DorsalRootGanglion28.9
FetalThyroid28.65
Fetalbrain179
Fetalliver79.4
Fetallung61.1
GlobusPallidus129.9
Heart20.4
Hypothalamus423.35
Kidney22.4
Leukemia_chronicMyelogenousK-56232.45
Leukemia_promyelocytic-HL-6021.35
Leukemialymphoblastic(MOLT-4)76.4
Liver21.75
Lung24.35
Lymphnode32.55
Lymphoma_burkitts(Daudi)20.5
Lymphoma_burkitts(Raji)31.95
MedullaOblongata153.95
OccipitalLobe165
OlfactoryBulb91.95
Ovary14.5
Pancreas22.15
PancreaticIslet50.75
ParietalLobe208.45
Pituitary121.3
Placenta255.05
Pons85.15
PrefrontalCortex486.7
Prostate215.25
Salivarygland24.3
SkeletalMuscle112.15
Skin13.4
SmoothMuscle27.85
Spinalcord214.45
SubthalamicNucleus144.6
SuperiorCervicalGanglion23.7
TemporalLobe55.75
Testis40.6
TestisGermCell91.75
TestisIntersitial33.7
TestisLeydigCell46.15
TestisSeminiferousTubule46.15
Thalamus292.95
Thymus30.5
Thyroid176.9
Tongue82.8
Tonsil20.65
Trachea27.85
TrigeminalGanglion18.65
Uterus135.6
UterusCorpus25.15
WholeBlood335.35
Wholebrain134.3
colon98.1
pineal_day273.6
pineal_night294.42
retina108.85
small_intestine41.9
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P327069
  • 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
Amygdala8.8 ± 0.22
Basal Forebrain8.68 ± 0.22
Basal Part of Pons8.98 ± 0.18
Cerebellar Cortex8.8 ± 0.18
Cerebellar Nuclei8.92 ± 0.13
Claustrum8.92 ± 0.17
Epithalamus8.78 ± 0.31
Frontal Lobe8.89 ± 0.2
Globus Pallidus9.08 ± 0.23
Hypothalamus8.62 ± 0.21
Insula8.87 ± 0.15
Limbic Lobe8.93 ± 0.23
Mesencephalon8.81 ± 0.16
Myelencephalon8.87 ± 0.21
Occipital Lobe8.85 ± 0.25
Parietal Lobe8.97 ± 0.32
Pontine Tegmentum8.91 ± 0.23
Striatum8.73 ± 0.24
Subthalamus9.08 ± 0.08
Temporal Lobe8.91 ± 0.17
Thalamus9.04 ± 0.21
White Matter9.51 ± 0.19
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
D5Ertd579eCBCerebellum43.68
75.84
D5Ertd579eCTXCerebral cortex100
89.12
D5Ertd579eHIPHippocampal region72.51
100
D5Ertd579eHPFHippocampal formation77.79
100
D5Ertd579eHYHypothalamus38.28
29.45
D5Ertd579eLSXLateral septal complex40.67
29.01
D5Ertd579eMBMidbrain47.05
42.45
D5Ertd579eMYMedulla44.48
49.21
D5Ertd579eOLFOlfactory bulb73.93
69.74
D5Ertd579ePPons38.92
40.5
D5Ertd579ePALPallidum44.28
41.08
D5Ertd579eRHPRetrohippocampal region85.31
78.01
D5Ertd579esAMYStriatum-like amygdalar nuclei38.04
28.08
D5Ertd579eSTRStriatum100
97.72
D5Ertd579eSTRdStriatum dorsal region100
100
D5Ertd579eSTRvStriatum ventral region94.26
86.46
D5Ertd579eTHThalamus49.47
43.08
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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