AutismKB 2.0

Annotation Detail for KIAA0556


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Basic Information Top
Gene Symbol:KIAA0556 ( - )
Gene Full Name: KIAA0556
Band: 16p12.1
Quick LinksEntrez ID:23247; OMIM: NA; Uniprot ID:K0556_HUMAN; ENSEMBL ID: ENSG00000047578; HGNC ID: 29068
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
blastocyst1 / 6231916
fetus3 / 5640125
neonate0 / 310970 
infant0 / 236200 
juvenile1 / 5555617
adult57 / 193912129
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma0 / 174750 
breast (mammary gland) tumor1 / 9417810
cervical tumor0 / 343660 
chondrosarcoma5 / 8282360
colorectal tumor8 / 11424670
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor2 / 2638457
glioma3 / 10688328
head and neck tumor9 / 13630266
kidney tumor4 / 6895958
leukemia4 / 9584241
liver tumor1 / 9635910
lung tumor2 / 10312719
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal49 / 336030714
ovarian tumor0 / 766820 
pancreatic tumor1 / 1046169
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer12 / 102680116
retinoblastoma2 / 4635643
skin tumor11 / 12494988
soft tissue/muscle tissue tumor1 / 1251917
uterine tumor4 / 9025744
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites0 / 400150 
bladder0 / 297570 
blood1 / 1234788
bone1 / 7165513
bone marrow0 / 488010 
brain17 / 110098915
cervix0 / 481710 
connective tissue4 / 14925526
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye9 / 21105442
heart1 / 8962611
intestine11 / 23447246
kidney4 / 21177718
larynx1 / 2414541
liver2 / 2077439
lung6 / 33697417
lymph0 / 442700 
lymph node7 / 9161076
mammary gland2 / 15327113
mouth2 / 6705229
muscle1 / 1077159
nerve0 / 157680 
ovary2 / 10205119
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx3 / 4132872
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate13 / 18934568
salivary gland0 / 201550 
skin12 / 21057456
spleen0 / 539520 
stomach1 / 9661910
testis7 / 33044221
thymus3 / 8113136
thyroid6 / 47473126
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus5 / 23287821
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 213185_at
Cell line Expression level Expression bar
721_B_lymphoblasts39.7
Adipocyte35.3
AdrenalCortex39.6
Adrenalgland30
Amygdala37.3
Appendix35.9
AtrioventricularNode26.35
BDCA4+_DentriticCells39.05
Bonemarrow34.85
BronchialEpithelialCells34.2
CD105+_Endothelial34
CD14+_Monocytes37.75
CD19+_BCells(neg._sel.)32.55
CD33+_Myeloid44.2
CD34+43.05
CD4+_Tcells39.65
CD56+_NKCells41.55
CD71+_EarlyErythroid13.55
CD8+_Tcells33.65
CardiacMyocytes41.75
Caudatenucleus33.6
Cerebellum34.9
CerebellumPeduncles40.95
CiliaryGanglion24.2
CingulateCortex36.9
Colorectaladenocarcinoma51.7
DorsalRootGanglion24.35
FetalThyroid34.9
Fetalbrain36.2
Fetalliver30.65
Fetallung30.4
GlobusPallidus26.4
Heart44.1
Hypothalamus40.5
Kidney32.45
Leukemia_chronicMyelogenousK-56233.25
Leukemia_promyelocytic-HL-6030.05
Leukemialymphoblastic(MOLT-4)28.3
Liver45.45
Lung39.45
Lymphnode30.9
Lymphoma_burkitts(Daudi)45.45
Lymphoma_burkitts(Raji)49.75
MedullaOblongata46.25
OccipitalLobe32.35
OlfactoryBulb30.65
Ovary21.5
Pancreas29.15
PancreaticIslet38.1
ParietalLobe38.25
Pituitary64.25
Placenta39.05
Pons34.15
PrefrontalCortex54.15
Prostate41.5
Salivarygland28.45
SkeletalMuscle39.55
Skin26.9
SmoothMuscle31.55
Spinalcord38.2
SubthalamicNucleus32.6
SuperiorCervicalGanglion47.3
TemporalLobe32.65
Testis49.45
TestisGermCell40.95
TestisIntersitial41.9
TestisLeydigCell35.7
TestisSeminiferousTubule39.7
Thalamus36.4
Thymus27.95
Thyroid45.9
Tongue35.25
Tonsil34.65
Trachea30.25
TrigeminalGanglion35.05
Uterus29.85
UterusCorpus31.45
WholeBlood38.55
Wholebrain30.5
colon35.65
pineal_day312.06
pineal_night232.76
retina44.175
small_intestine34.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_32_P162746
  • 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
Amygdala7.94 ± 0.47
Basal Forebrain8.29 ± 0.46
Basal Part of Pons7.96 ± 0.57
Cerebellar Cortex7.61 ± 0.58
Cerebellar Nuclei8.3 ± 0.32
Claustrum8.11 ± 0.57
Epithalamus7.19 ± 0.75
Frontal Lobe8.01 ± 0.71
Globus Pallidus9.35 ± 0.45
Hypothalamus7.73 ± 0.54
Insula7.6 ± 0.56
Limbic Lobe8.17 ± 0.83
Mesencephalon8.14 ± 0.53
Myelencephalon8.1 ± 0.72
Occipital Lobe8.13 ± 0.68
Parietal Lobe7.91 ± 0.63
Pontine Tegmentum7.96 ± 0.53
Striatum8.35 ± 0.76
Subthalamus7.23 ± 0.46
Temporal Lobe7.87 ± 0.64
Thalamus8.12 ± 0.52
White Matter10.19 ± 0.07
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
D430042O09RikCBCerebellum6.4
8.26
D430042O09RikCTXCerebral cortex10.59
7.99
D430042O09RikHIPHippocampal region8.61
7.98
D430042O09RikHPFHippocampal formation8.78
7.32
D430042O09RikHYHypothalamus1.71
1.62
D430042O09RikLSXLateral septal complex0.41
0.24
D430042O09RikMBMidbrain4.95
5.97
D430042O09RikMYMedulla11.72
13.73
D430042O09RikOLFOlfactory bulb11.29
8.92
D430042O09RikPPons7.23
9.97
D430042O09RikPALPallidum5.15
6.06
D430042O09RikRHPRetrohippocampal region9.32
6.65
D430042O09RiksAMYStriatum-like amygdalar nuclei2.18
2.35
D430042O09RikSTRStriatum2.28
2.16
D430042O09RikSTRdStriatum dorsal region1.75
1.84
D430042O09RikSTRvStriatum ventral region5.48
4.18
D430042O09RikTHThalamus5.1
4.77
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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