AutismKB 2.0

Annotation Detail for KIAA0100


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Basic Information Top
Gene Symbol:KIAA0100 ( BCOX,BCOX1,CT101,DKFZp686M0843,MGC111488,MGC134981 )
Gene Full Name: KIAA0100
Band: 17q11.2
Quick LinksEntrez ID:9703; OMIM: 610664; Uniprot ID:K0100_HUMAN; ENSEMBL ID: ENSG00000007202; HGNC ID: 28960
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 body7 / 7076198
blastocyst8 / 62319128
fetus21 / 56401237
neonate2 / 3109764
infant2 / 2362084
juvenile1 / 5555617
adult223 / 1939121115
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma1 / 1747557
breast (mammary gland) tumor19 / 94178201
cervical tumor4 / 34366116
chondrosarcoma8 / 8282396
colorectal tumor32 / 114246280
esophageal tumor1 / 1729057
gastrointestinal tumor8 / 11936967
germ cell tumor12 / 26384545
glioma2 / 10688318
head and neck tumor19 / 136302139
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor5 / 9635951
lung tumor17 / 103127164
lymphoma0 / 717550 
non-neoplasia6 / 9725061
normal204 / 336030760
ovarian tumor2 / 7668226
pancreatic tumor5 / 10461647
primitive neuroectodermal tumor of the CNS3 / 12568023
prostate cancer4 / 10268038
retinoblastoma3 / 4635664
skin tumor6 / 12494948
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor13 / 90257144
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue1 / 1310676
adrenal gland3 / 3319790
ascites1 / 4001524
bladder0 / 297570 
blood5 / 12347840
bone7 / 7165597
bone marrow1 / 4880120
brain46 / 110098941
cervix4 / 4817183
connective tissue8 / 14925553
ear0 / 162120 
embryonic tissue26 / 215722120
esophagus1 / 2020949
eye20 / 21105494
heart1 / 8962611
intestine46 / 234472196
kidney14 / 21177766
larynx14 / 24145579
liver5 / 20774324
lung36 / 336974106
lymph0 / 442700 
lymph node4 / 9161043
mammary gland28 / 153271182
mouth2 / 6705229
muscle7 / 10771564
nerve0 / 157680 
ovary2 / 10205119
pancreas14 / 21481265
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta17 / 28082560
prostate21 / 189345110
salivary gland1 / 2015549
skin8 / 21057437
spleen0 / 539520 
stomach5 / 9661951
testis18 / 33044254
thymus3 / 8113136
thyroid4 / 4747384
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus22 / 23287894
vascular2 / 5178038
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 201728_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts20.6
Adipocyte4.95
AdrenalCortex7
Adrenalgland4
Amygdala5.1
Appendix4.85
AtrioventricularNode4.1
BDCA4+_DentriticCells47.85
Bonemarrow4.7
BronchialEpithelialCells4.9
CD105+_Endothelial5.2
CD14+_Monocytes6.6
CD19+_BCells(neg._sel.)5.75
CD33+_Myeloid8.8
CD34+22.5
CD4+_Tcells5.45
CD56+_NKCells11.7
CD71+_EarlyErythroid4.45
CD8+_Tcells5.45
CardiacMyocytes6
Caudatenucleus4.2
Cerebellum3.85
CerebellumPeduncles5.4
CiliaryGanglion4
CingulateCortex4.85
Colorectaladenocarcinoma4.9
DorsalRootGanglion3.65
FetalThyroid4.6
Fetalbrain4.85
Fetalliver4.15
Fetallung4
GlobusPallidus3.5
Heart6
Hypothalamus5.3
Kidney3.85
Leukemia_chronicMyelogenousK-5624.4
Leukemia_promyelocytic-HL-604.25
Leukemialymphoblastic(MOLT-4)3.9
Liver6.3
Lung5.35
Lymphnode4.1
Lymphoma_burkitts(Daudi)6.05
Lymphoma_burkitts(Raji)6.6
MedullaOblongata4.4
OccipitalLobe4.25
OlfactoryBulb3.8
Ovary3.15
Pancreas3.85
PancreaticIslet5
ParietalLobe5
Pituitary5.55
Placenta4.95
Pons4.5
PrefrontalCortex5.85
Prostate5.7
Salivarygland3.8
SkeletalMuscle5.45
Skin3.8
SmoothMuscle5.4
Spinalcord5.1
SubthalamicNucleus4.3
SuperiorCervicalGanglion5.45
TemporalLobe4.55
Testis4.15
TestisGermCell4.1
TestisIntersitial4
TestisLeydigCell4.7
TestisSeminiferousTubule4.1
Thalamus4.75
Thymus5.25
Thyroid6
Tongue4.65
Tonsil4.6
Trachea4.05
TrigeminalGanglion4.75
Uterus3.9
UterusCorpus4.25
WholeBlood5.35
Wholebrain4.15
colon4.85
pineal_day6.02
pineal_night5.88
retina5.75
small_intestine6.3
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_4880_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
Amygdala4.69 ± 0.46
Basal Forebrain4.48 ± 0.41
Basal Part of Pons4.95 ± 0.34
Cerebellar Cortex4.55 ± 0.56
Cerebellar Nuclei4.61 ± 0.27
Claustrum4.92 ± 0.58
Epithalamus4.16 ± 0.63
Frontal Lobe4.64 ± 0.45
Globus Pallidus4.45 ± 0.46
Hypothalamus4.58 ± 0.88
Insula4.51 ± 0.53
Limbic Lobe4.51 ± 0.5
Mesencephalon4.43 ± 0.55
Myelencephalon4.55 ± 0.49
Occipital Lobe4.26 ± 0.63
Parietal Lobe4.56 ± 0.44
Pontine Tegmentum4.36 ± 0.55
Striatum4.24 ± 0.43
Subthalamus4.61 ± 0.25
Temporal Lobe4.67 ± 0.46
Thalamus4.53 ± 0.48
White Matter4.74 ± 0.38
Mouse Brain ISH
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00500200 18 1231 1248 APEFLPEVPLGQLHDSYR Peptide Atlas

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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