AutismKB 2.0

Annotation Detail for KIAA0947


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Basic Information Top
Gene Symbol:KIAA0947 ( DKFZp781J2344 )
Gene Full Name: KIAA0947
Band: 5p15.32
Quick LinksEntrez ID:23379; OMIM: NA; Uniprot ID:K0947_HUMAN; ENSEMBL ID: ENSG00000164151; 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 body4 / 7076156
blastocyst4 / 6231964
fetus20 / 56401235
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult79 / 193912140
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) tumor5 / 9417853
cervical tumor0 / 343660 
chondrosarcoma4 / 8282348
colorectal tumor5 / 11424643
esophageal tumor0 / 172900 
gastrointestinal tumor0 / 1193690 
germ cell tumor2 / 2638457
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor3 / 6895943
leukemia1 / 9584210
liver tumor8 / 9635983
lung tumor1 / 1031279
lymphoma8 / 71755111
non-neoplasia3 / 9725030
normal125 / 336030737
ovarian tumor3 / 7668239
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS2 / 12568015
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor1 / 1249498
soft tissue/muscle tissue tumor6 / 12519147
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites0 / 400150 
bladder0 / 297570 
blood2 / 12347816
bone4 / 7165555
bone marrow0 / 488010 
brain40 / 110098936
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue18 / 21572283
esophagus0 / 202090 
eye11 / 21105452
heart4 / 8962644
intestine8 / 23447234
kidney9 / 21177742
larynx2 / 2414582
liver18 / 20774386
lung6 / 33697417
lymph2 / 4427045
lymph node4 / 9161043
mammary gland8 / 15327152
mouth0 / 670520 
muscle2 / 10771518
nerve0 / 157680 
ovary2 / 10205119
pancreas7 / 21481232
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta9 / 28082532
prostate6 / 18934531
salivary gland0 / 201550 
skin3 / 21057414
spleen2 / 5395237
stomach0 / 966190 
testis2 / 3304426
thymus2 / 8113124
thyroid0 / 474730 
tonsil0 / 169990 
trachea2 / 5241338
umbilical cord0 / 136800 
uterus9 / 23287838
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 209654_at
Cell line Expression level Expression bar
721_B_lymphoblasts109.7
Adipocyte22
AdrenalCortex21.5
Adrenalgland17.25
Amygdala90.85
Appendix25
AtrioventricularNode14.65
BDCA4+_DentriticCells179.75
Bonemarrow15.95
BronchialEpithelialCells44.5
CD105+_Endothelial112.7
CD14+_Monocytes76.2
CD19+_BCells(neg._sel.)157.05
CD33+_Myeloid105.85
CD34+191.9
CD4+_Tcells224.25
CD56+_NKCells253.1
CD71+_EarlyErythroid44.45
CD8+_Tcells227.6
CardiacMyocytes21.4
Caudatenucleus22.45
Cerebellum16.45
CerebellumPeduncles25.45
CiliaryGanglion14.65
CingulateCortex37.25
Colorectaladenocarcinoma43.95
DorsalRootGanglion13.2
FetalThyroid47.5
Fetalbrain73.3
Fetalliver18.4
Fetallung32.75
GlobusPallidus18.95
Heart25.1
Hypothalamus69.75
Kidney16.15
Leukemia_chronicMyelogenousK-56263.25
Leukemia_promyelocytic-HL-6062.85
Leukemialymphoblastic(MOLT-4)90.65
Liver21.85
Lung18.05
Lymphnode54.3
Lymphoma_burkitts(Daudi)30.15
Lymphoma_burkitts(Raji)30.05
MedullaOblongata32.15
OccipitalLobe35.8
OlfactoryBulb30.05
Ovary16.5
Pancreas16.7
PancreaticIslet49.15
ParietalLobe28.05
Pituitary54.45
Placenta16.2
Pons24.45
PrefrontalCortex127.6
Prostate37.1
Salivarygland31.35
SkeletalMuscle32.65
Skin11.6
SmoothMuscle26.55
Spinalcord38.4
SubthalamicNucleus22.45
SuperiorCervicalGanglion23.45
TemporalLobe21.35
Testis15.85
TestisGermCell31.7
TestisIntersitial20.75
TestisLeydigCell22.25
TestisSeminiferousTubule20.05
Thalamus23.95
Thymus22.45
Thyroid53.4
Tongue22.3
Tonsil21.55
Trachea18.35
TrigeminalGanglion24.95
Uterus86.2
UterusCorpus17.75
WholeBlood51
Wholebrain25.9
colon31.7
pineal_day154.1
pineal_night126.8
retina29.45
small_intestine28.4
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P35800
  • 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
Amygdala6.85 ± 0.38
Basal Forebrain6.47 ± 0.25
Basal Part of Pons6.73 ± 0.31
Cerebellar Cortex6.97 ± 0.13
Cerebellar Nuclei6.17 ± 0.42
Claustrum6.7 ± 0.42
Epithalamus6.7 ± 0.27
Frontal Lobe6.75 ± 0.29
Globus Pallidus6.01 ± 0.25
Hypothalamus6.77 ± 0.36
Insula6.91 ± 0.21
Limbic Lobe6.89 ± 0.4
Mesencephalon6.57 ± 0.59
Myelencephalon6.61 ± 0.42
Occipital Lobe6.5 ± 0.45
Parietal Lobe6.58 ± 0.35
Pontine Tegmentum6.56 ± 0.28
Striatum6 ± 0.41
Subthalamus6.54 ± 0.53
Temporal Lobe6.77 ± 0.35
Thalamus6.46 ± 0.32
White Matter6.64 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
BC018507CBCerebellum31.52
49.94
BC018507CTXCerebral cortex100
100
BC018507HIPHippocampal region100
100
BC018507HPFHippocampal formation100
100
BC018507HYHypothalamus100
100
BC018507LSXLateral septal complex100
100
BC018507MBMidbrain72.67
79.7
BC018507MYMedulla43.68
58.37
BC018507OLFOlfactory bulb100
100
BC018507PPons49.48
61.6
BC018507PALPallidum100
100
BC018507RHPRetrohippocampal region100
100
BC018507sAMYStriatum-like amygdalar nuclei100
100
BC018507STRStriatum100
100
BC018507STRdStriatum dorsal region100
100
BC018507STRvStriatum ventral region100
100
BC018507THThalamus100
100
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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