AutismKB 2.0

Annotation Detail for TOPBP1


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Basic Information Top
Gene Symbol:TOPBP1 ( TOP2BP1 )
Gene Full Name: topoisomerase (DNA) II binding protein 1
Band: 3q22.1
Quick LinksEntrez ID:11073; OMIM: 607760; Uniprot ID:TOPB1_HUMAN; ENSEMBL ID: ENSG00000163781; HGNC ID: 17008
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 body8 / 70761113
blastocyst4 / 6231964
fetus40 / 56401270
neonate0 / 310970 
infant1 / 2362042
juvenile6 / 55556107
adult91 / 193912146
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor2 / 12794156
bladder carcinoma1 / 1747557
breast (mammary gland) tumor6 / 9417863
cervical tumor3 / 3436687
chondrosarcoma3 / 8282336
colorectal tumor6 / 11424652
esophageal tumor0 / 172900 
gastrointestinal tumor3 / 11936925
germ cell tumor26 / 26384598
glioma3 / 10688328
head and neck tumor2 / 13630214
kidney tumor2 / 6895929
leukemia19 / 95842198
liver tumor3 / 9635931
lung tumor2 / 10312719
lymphoma6 / 7175583
non-neoplasia4 / 9725041
normal144 / 336030742
ovarian tumor2 / 7668226
pancreatic tumor2 / 10461619
primitive neuroectodermal tumor of the CNS1 / 1256807
prostate cancer4 / 10268038
retinoblastoma1 / 4635621
skin tumor10 / 12494980
soft tissue/muscle tissue tumor9 / 12519171
uterine tumor3 / 9025733
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites1 / 4001524
bladder1 / 2975733
blood15 / 123478121
bone2 / 7165527
bone marrow5 / 48801102
brain47 / 110098942
cervix4 / 4817183
connective tissue6 / 14925540
ear0 / 162120 
embryonic tissue20 / 21572292
esophagus0 / 202090 
eye14 / 21105466
heart4 / 8962644
intestine8 / 23447234
kidney10 / 21177747
larynx0 / 241450 
liver5 / 20774324
lung6 / 33697417
lymph2 / 4427045
lymph node18 / 91610196
mammary gland9 / 15327158
mouth2 / 6705229
muscle3 / 10771527
nerve1 / 1576863
ovary5 / 10205148
pancreas2 / 2148129
parathyroid0 / 205390 
pharynx0 / 413280 
pituitary gland0 / 165850 
placenta15 / 28082553
prostate7 / 18934536
salivary gland0 / 201550 
skin10 / 21057447
spleen1 / 5395218
stomach3 / 9661931
testis32 / 33044296
thymus9 / 81131110
thyroid1 / 4747321
tonsil2 / 16999117
trachea0 / 524130 
umbilical cord0 / 136800 
uterus9 / 23287838
vascular1 / 5178019
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 202633_at
Cell line Expression level Expression bar
721_B_lymphoblasts160.35
Adipocyte13.4
AdrenalCortex16.4
Adrenalgland12.05
Amygdala25.25
Appendix15.55
AtrioventricularNode11.65
BDCA4+_DentriticCells67.95
Bonemarrow14.1
BronchialEpithelialCells11.95
CD105+_Endothelial102.15
CD14+_Monocytes33.1
CD19+_BCells(neg._sel.)69.15
CD33+_Myeloid80.7
CD34+247.3
CD4+_Tcells64.45
CD56+_NKCells91.35
CD71+_EarlyErythroid52.05
CD8+_Tcells69.2
CardiacMyocytes18.5
Caudatenucleus13.3
Cerebellum11.1
CerebellumPeduncles16.55
CiliaryGanglion10.35
CingulateCortex14.4
Colorectaladenocarcinoma72.65
DorsalRootGanglion11.35
FetalThyroid12.75
Fetalbrain36.35
Fetalliver18.05
Fetallung11.4
GlobusPallidus10.15
Heart19.25
Hypothalamus18
Kidney9.75
Leukemia_chronicMyelogenousK-56239.85
Leukemia_promyelocytic-HL-6065.55
Leukemialymphoblastic(MOLT-4)95.1
Liver19.05
Lung13.35
Lymphnode15.75
Lymphoma_burkitts(Daudi)98.35
Lymphoma_burkitts(Raji)22.9
MedullaOblongata13.2
OccipitalLobe13.5
OlfactoryBulb10.65
Ovary10.15
Pancreas10.35
PancreaticIslet14.7
ParietalLobe15.35
Pituitary15.5
Placenta11.2
Pons13.6
PrefrontalCortex19.2
Prostate16.5
Salivarygland16.95
SkeletalMuscle17.7
Skin11.25
SmoothMuscle10.7
Spinalcord16.6
SubthalamicNucleus13.35
SuperiorCervicalGanglion18.8
TemporalLobe13.3
Testis13.5
TestisGermCell30.85
TestisIntersitial16.7
TestisLeydigCell27.8
TestisSeminiferousTubule21.25
Thalamus14.3
Thymus14
Thyroid18.85
Tongue14.2
Tonsil28.75
Trachea11.3
TrigeminalGanglion15.05
Uterus17.25
UterusCorpus12.5
WholeBlood23.45
Wholebrain13
colon18.05
pineal_day17.28
pineal_night17.02
retina17.35
small_intestine14.1
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_13733_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
Amygdala5.21 ± 0.43
Basal Forebrain5.05 ± 0.38
Basal Part of Pons5.6 ± 0.2
Cerebellar Cortex5.45 ± 0.24
Cerebellar Nuclei5.3 ± 0.68
Claustrum5.19 ± 0.56
Epithalamus5.01 ± 0.29
Frontal Lobe5.34 ± 0.39
Globus Pallidus4.82 ± 0.28
Hypothalamus4.96 ± 0.41
Insula5.31 ± 0.22
Limbic Lobe5.25 ± 0.52
Mesencephalon5.11 ± 0.5
Myelencephalon5.17 ± 0.43
Occipital Lobe5.05 ± 0.34
Parietal Lobe5.17 ± 0.36
Pontine Tegmentum5.13 ± 0.37
Striatum4.83 ± 0.38
Subthalamus5.42 ± 0.1
Temporal Lobe5.37 ± 0.37
Thalamus5.07 ± 0.36
White Matter4.76 ± 0.51
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Topbp1CBCerebellum4.73
5.56
Topbp1CTXCerebral cortex6.31
4.44
Topbp1HIPHippocampal region7.15
6.68
Topbp1HPFHippocampal formation8.59
7.48
Topbp1HYHypothalamus5.76
4.97
Topbp1LSXLateral septal complex0.51
0.42
Topbp1MBMidbrain3.01
3.18
Topbp1MYMedulla6.74
7.76
Topbp1OLFOlfactory bulb8.55
7.51
Topbp1PPons6.13
7.23
Topbp1PALPallidum2.29
2.11
Topbp1RHPRetrohippocampal region11.87
9.32
Topbp1sAMYStriatum-like amygdalar nuclei2.67
2
Topbp1STRStriatum1.55
1.23
Topbp1STRdStriatum dorsal region1.27
1.15
Topbp1STRvStriatum ventral region2.33
1.36
Topbp1THThalamus6.67
5.58
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00010433 9 1281 1289 IDYCHLIEK 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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