AutismKB 2.0

Annotation Detail for KIAA0319


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Basic Information Top
Gene Symbol:KIAA0319 ( DLX2,DYLX2,DYX2,MGC176717 )
Gene Full Name: KIAA0319
Band: 6p22.3
Quick LinksEntrez ID:9856; OMIM: 609269; Uniprot ID:K0319_HUMAN; ENSEMBL ID: ENSG00000137261; HGNC ID: 21580
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 body0 / 707610 
blastocyst0 / 623190 
fetus10 / 56401217
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult14 / 19391217
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) tumor0 / 941780 
cervical tumor1 / 3436629
chondrosarcoma0 / 828230 
colorectal tumor2 / 11424617
esophageal tumor0 / 172900 
gastrointestinal tumor1 / 1193698
germ cell tumor3 / 26384511
glioma3 / 10688328
head and neck tumor0 / 1363020 
kidney tumor1 / 6895914
leukemia0 / 958420 
liver tumor0 / 963590 
lung tumor0 / 1031270 
lymphoma0 / 717550 
non-neoplasia1 / 9725010
normal43 / 336030712
ovarian tumor0 / 766820 
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer0 / 1026800 
retinoblastoma0 / 463560 
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor0 / 1251910 
uterine tumor1 / 9025711
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland0 / 331970 
ascites1 / 4001524
bladder0 / 297570 
blood0 / 1234780 
bone0 / 716550 
bone marrow0 / 488010 
brain26 / 110098923
cervix1 / 4817120
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus0 / 202090 
eye1 / 2110544
heart0 / 896260 
intestine3 / 23447212
kidney1 / 2117774
larynx0 / 241450 
liver0 / 2077430 
lung1 / 3369742
lymph0 / 442700 
lymph node0 / 916100 
mammary gland0 / 1532710 
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary0 / 1020510 
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta2 / 2808257
prostate0 / 1893450 
salivary gland0 / 201550 
skin0 / 2105740 
spleen0 / 539520 
stomach0 / 966190 
testis4 / 33044212
thymus0 / 811310 
thyroid0 / 474730 
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus1 / 2328784
vascular0 / 517800 
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 206017_at
Cell line Expression level Expression bar
721_B_lymphoblasts6.7
Adipocyte5.85
AdrenalCortex6.75
Adrenalgland5.2
Amygdala16.3
Appendix6.6
AtrioventricularNode6
BDCA4+_DentriticCells5.85
Bonemarrow6.7
BronchialEpithelialCells5.85
CD105+_Endothelial5.85
CD14+_Monocytes6.3
CD19+_BCells(neg._sel.)6.05
CD33+_Myeloid7.15
CD34+7
CD4+_Tcells6.05
CD56+_NKCells6.6
CD71+_EarlyErythroid5.65
CD8+_Tcells5.4
CardiacMyocytes8.9
Caudatenucleus5.75
Cerebellum4.95
CerebellumPeduncles7.15
CiliaryGanglion5.6
CingulateCortex9.05
Colorectaladenocarcinoma5.95
DorsalRootGanglion5.7
FetalThyroid5.8
Fetalbrain41.7
Fetalliver5.25
Fetallung4.6
GlobusPallidus7.4
Heart9.95
Hypothalamus10.25
Kidney5.1
Leukemia_chronicMyelogenousK-5625.35
Leukemia_promyelocytic-HL-605.2
Leukemialymphoblastic(MOLT-4)4.75
Liver8.6
Lung6.65
Lymphnode5.05
Lymphoma_burkitts(Daudi)7.9
Lymphoma_burkitts(Raji)8.9
MedullaOblongata6.4
OccipitalLobe5.7
OlfactoryBulb4.6
Ovary4.1
Pancreas4.9
PancreaticIslet6.9
ParietalLobe6.9
Pituitary7.15
Placenta5.8
Pons10.1
PrefrontalCortex11.55
Prostate6.75
Salivarygland4.95
SkeletalMuscle9.5
Skin5.35
SmoothMuscle6.6
Spinalcord6.75
SubthalamicNucleus8.1
SuperiorCervicalGanglion7.9
TemporalLobe5.65
Testis5.1
TestisGermCell4.8
TestisIntersitial5.1
TestisLeydigCell6.25
TestisSeminiferousTubule5.1
Thalamus14.85
Thymus4.45
Thyroid7.15
Tongue6.25
Tonsil5.95
Trachea4.9
TrigeminalGanglion7
Uterus4.7
UterusCorpus5.75
WholeBlood6.35
Wholebrain5.25
colon5.95
pineal_day7.22
pineal_night7.1
retina7.5
small_intestine5.6
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: A_23_P168324
  • 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
Amygdala9.71 ± 0.36
Basal Forebrain9.46 ± 0.17
Basal Part of Pons10.03 ± 0.3
Cerebellar Cortex9.75 ± 0.29
Cerebellar Nuclei8.53 ± 0.39
Claustrum9.46 ± 0.37
Epithalamus9.77 ± 0.37
Frontal Lobe9.68 ± 0.42
Globus Pallidus8.85 ± 0.34
Hypothalamus9.49 ± 0.34
Insula10.08 ± 0.27
Limbic Lobe10.02 ± 0.36
Mesencephalon9.65 ± 0.57
Myelencephalon9.72 ± 0.49
Occipital Lobe9.76 ± 0.38
Parietal Lobe9.61 ± 0.39
Pontine Tegmentum9.46 ± 0.41
Striatum9.41 ± 0.5
Subthalamus9.1 ± 0.1
Temporal Lobe9.87 ± 0.34
Thalamus10.11 ± 0.49
White Matter7.49 ± 0.25
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
D130043K22RikCBCerebellum6.11
7.32
D130043K22RikCTXCerebral cortex67.84
55.32
D130043K22RikHIPHippocampal region27.78
31.54
D130043K22RikHPFHippocampal formation31.62
31.61
D130043K22RikHYHypothalamus11.64
10.43
D130043K22RikLSXLateral septal complex26.6
19.61
D130043K22RikMBMidbrain12.08
12.15
D130043K22RikMYMedulla14.78
17.06
D130043K22RikOLFOlfactory bulb32.53
27.76
D130043K22RikPPons17.12
21.95
D130043K22RikPALPallidum11.24
10.1
D130043K22RikRHPRetrohippocampal region39.54
32.87
D130043K22RiksAMYStriatum-like amygdalar nuclei20.53
14.58
D130043K22RikSTRStriatum19.51
14.32
D130043K22RikSTRdStriatum dorsal region21.42
16.13
D130043K22RikSTRvStriatum ventral region11.42
7.91
D130043K22RikTHThalamus12.51
10.61
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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