AutismKB 2.0

Annotation Detail for KIAA0649


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Basic Information Top
Gene Symbol:KIAA0649 ( - )
Gene Full Name: KIAA0649
Band: 9q34.3
Quick LinksEntrez ID:9858; OMIM: NA; Uniprot ID:K0649_HUMAN; ENSEMBL ID: ENSG00000196422; 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 body3 / 7076142
blastocyst2 / 6231932
fetus11 / 56401219
neonate0 / 310970 
infant0 / 236200 
juvenile0 / 555560 
adult29 / 193912114
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) tumor1 / 9417810
cervical tumor2 / 3436658
chondrosarcoma2 / 8282324
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor5 / 11936941
germ cell tumor2 / 2638457
glioma2 / 10688318
head and neck tumor1 / 1363027
kidney tumor6 / 6895987
leukemia0 / 958420 
liver tumor3 / 9635931
lung tumor4 / 10312738
lymphoma0 / 717550 
non-neoplasia0 / 972500 
normal53 / 336030715
ovarian tumor2 / 7668226
pancreatic tumor3 / 10461628
primitive neuroectodermal tumor of the CNS6 / 12568047
prostate cancer3 / 10268029
retinoblastoma1 / 4635621
skin tumor0 / 1249490 
soft tissue/muscle tissue tumor1 / 1251917
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 
ascites3 / 4001574
bladder0 / 297570 
blood1 / 1234788
bone4 / 7165555
bone marrow0 / 488010 
brain19 / 110098917
cervix7 / 48171145
connective tissue0 / 1492550 
ear0 / 162120 
embryonic tissue8 / 21572237
esophagus0 / 202090 
eye5 / 21105423
heart0 / 896260 
intestine7 / 23447229
kidney13 / 21177761
larynx0 / 241450 
liver4 / 20774319
lung11 / 33697432
lymph0 / 442700 
lymph node0 / 916100 
mammary gland2 / 15327113
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary2 / 10205119
pancreas3 / 21481213
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta0 / 2808250 
prostate4 / 18934521
salivary gland0 / 201550 
skin1 / 2105744
spleen1 / 5395218
stomach1 / 9661910
testis4 / 33044212
thymus0 / 811310 
thyroid1 / 4747321
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus3 / 23287812
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 203955_at
Cell line Expression level Expression bar
721_B_lymphoblasts5.4
Adipocyte5
AdrenalCortex5.6
Adrenalgland4.7
Amygdala18.6
Appendix4.6
AtrioventricularNode3.9
BDCA4+_DentriticCells5.35
Bonemarrow4.95
BronchialEpithelialCells5
CD105+_Endothelial4.6
CD14+_Monocytes5.45
CD19+_BCells(neg._sel.)4.8
CD33+_Myeloid7.5
CD34+10.6
CD4+_Tcells5.1
CD56+_NKCells6
CD71+_EarlyErythroid4.5
CD8+_Tcells4.55
CardiacMyocytes6.5
Caudatenucleus4.55
Cerebellum5.4
CerebellumPeduncles5.8
CiliaryGanglion3.5
CingulateCortex21.85
Colorectaladenocarcinoma39.2
DorsalRootGanglion3.45
FetalThyroid14.1
Fetalbrain17.25
Fetalliver4.45
Fetallung4.2
GlobusPallidus3.8
Heart6.5
Hypothalamus8.3
Kidney5.55
Leukemia_chronicMyelogenousK-5626.65
Leukemia_promyelocytic-HL-603.85
Leukemialymphoblastic(MOLT-4)3.8
Liver6.95
Lung9.4
Lymphnode3.8
Lymphoma_burkitts(Daudi)5.35
Lymphoma_burkitts(Raji)6.4
MedullaOblongata15.05
OccipitalLobe10.85
OlfactoryBulb4.05
Ovary3.35
Pancreas4.45
PancreaticIslet5.4
ParietalLobe5.5
Pituitary8.65
Placenta7.3
Pons9.1
PrefrontalCortex15.95
Prostate6.55
Salivarygland4.1
SkeletalMuscle5.95
Skin3.7
SmoothMuscle5.1
Spinalcord9.9
SubthalamicNucleus4.9
SuperiorCervicalGanglion6.3
TemporalLobe5.4
Testis4.7
TestisGermCell4.15
TestisIntersitial3.95
TestisLeydigCell5
TestisSeminiferousTubule4.35
Thalamus6.75
Thymus3.65
Thyroid6.75
Tongue4.75
Tonsil4.15
Trachea4
TrigeminalGanglion5.15
Uterus4.85
UterusCorpus4.4
WholeBlood4.6
Wholebrain17.5
colon5.75
pineal_day21.48
pineal_night18.78
retina7.4
small_intestine4.95
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_456_PI416261804
  • 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
Amygdala3.74 ± 0.9
Basal Forebrain3.18 ± 0.39
Basal Part of Pons2.86 ± 0.48
Cerebellar Cortex2.75 ± 0.55
Cerebellar Nuclei3.31 ± 0.71
Claustrum3.42 ± 0.6
Epithalamus3.17 ± 0.65
Frontal Lobe3.17 ± 0.69
Globus Pallidus3.4 ± 0.89
Hypothalamus3.01 ± 0.51
Insula3.33 ± 0.63
Limbic Lobe3.3 ± 0.58
Mesencephalon3.38 ± 0.74
Myelencephalon3.29 ± 0.62
Occipital Lobe3.18 ± 0.7
Parietal Lobe3.27 ± 0.64
Pontine Tegmentum3.24 ± 0.65
Striatum3.3 ± 0.62
Subthalamus3.34 ± 0.91
Temporal Lobe3.44 ± 0.65
Thalamus3.06 ± 0.68
White Matter2.25 ± 0.34
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Gm347CBCerebellum100
100
Gm347CTXCerebral cortex100
100
Gm347HIPHippocampal region100
100
Gm347HPFHippocampal formation100
100
Gm347HYHypothalamus100
100
Gm347LSXLateral septal complex100
100
Gm347MBMidbrain100
100
Gm347MYMedulla100
100
Gm347OLFOlfactory bulb100
100
Gm347PPons100
100
Gm347PALPallidum100
100
Gm347RHPRetrohippocampal region100
100
Gm347sAMYStriatum-like amygdalar nuclei100
100
Gm347STRStriatum100
100
Gm347STRdStriatum dorsal region100
100
Gm347STRvStriatum ventral region100
100
Gm347THThalamus100
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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