AutismKB 2.0

Annotation Detail for TOP1


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Basic Information Top
Gene Symbol:TOP1 ( TOPI )
Gene Full Name: topoisomerase (DNA) I
Band: 20q12
Quick LinksEntrez ID:7150; OMIM: 126420; Uniprot ID:TOP1_HUMAN; ENSEMBL ID: ENSG00000198900; HGNC ID: 11986
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 body1 / 7076114
blastocyst0 / 623190 
fetus46 / 56401281
neonate0 / 310970 
infant2 / 2362084
juvenile9 / 55556161
adult120 / 193912161
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adrenal tumor1 / 1279478
bladder carcinoma0 / 174750 
breast (mammary gland) tumor9 / 9417895
cervical tumor0 / 343660 
chondrosarcoma6 / 8282372
colorectal tumor10 / 11424687
esophageal tumor5 / 17290289
gastrointestinal tumor7 / 11936958
germ cell tumor26 / 26384598
glioma5 / 10688346
head and neck tumor25 / 136302183
kidney tumor3 / 6895943
leukemia4 / 9584241
liver tumor7 / 9635972
lung tumor1 / 1031279
lymphoma3 / 7175541
non-neoplasia3 / 9725030
normal192 / 336030757
ovarian tumor0 / 766820 
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS9 / 12568071
prostate cancer5 / 10268048
retinoblastoma1 / 4635621
skin tumor2 / 12494916
soft tissue/muscle tissue tumor4 / 12519131
uterine tumor9 / 9025799
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland2 / 3319760
ascites2 / 4001549
bladder1 / 2975733
blood5 / 12347840
bone4 / 7165555
bone marrow4 / 4880181
brain76 / 110098969
cervix0 / 481710 
connective tissue9 / 14925560
ear2 / 16212123
embryonic tissue3 / 21572213
esophagus5 / 20209247
eye9 / 21105442
heart2 / 8962622
intestine28 / 234472119
kidney27 / 211777127
larynx0 / 241450 
liver10 / 20774348
lung17 / 33697450
lymph0 / 442700 
lymph node12 / 91610130
mammary gland13 / 15327184
mouth19 / 67052283
muscle3 / 10771527
nerve3 / 15768190
ovary1 / 1020519
pancreas1 / 2148124
parathyroid0 / 205390 
pharynx4 / 4132896
pituitary gland0 / 165850 
placenta18 / 28082564
prostate7 / 18934536
salivary gland1 / 2015549
skin2 / 2105749
spleen3 / 5395255
stomach6 / 9661962
testis25 / 33044275
thymus11 / 81131135
thyroid4 / 4747384
tonsil0 / 169990 
trachea12 / 52413228
umbilical cord0 / 136800 
uterus21 / 23287890
vascular3 / 5178057
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 208900_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts416.35
Adipocyte9.1
AdrenalCortex16.2
Adrenalgland6.9
Amygdala12
Appendix8.25
AtrioventricularNode13.6
BDCA4+_DentriticCells401.1
Bonemarrow8.85
BronchialEpithelialCells8.85
CD105+_Endothelial778.35
CD14+_Monocytes237.85
CD19+_BCells(neg._sel.)336.05
CD33+_Myeloid540.55
CD34+568.6
CD4+_Tcells137.45
CD56+_NKCells295.1
CD71+_EarlyErythroid1322.2
CD8+_Tcells125.45
CardiacMyocytes9.45
Caudatenucleus6.95
Cerebellum6.8
CerebellumPeduncles13.25
CiliaryGanglion8.65
CingulateCortex10.85
Colorectaladenocarcinoma16.8
DorsalRootGanglion8.3
FetalThyroid9
Fetalbrain7.1
Fetalliver27.9
Fetallung12.4
GlobusPallidus7.4
Heart14.65
Hypothalamus11.65
Kidney7
Leukemia_chronicMyelogenousK-5626.8
Leukemia_promyelocytic-HL-6018.7
Leukemialymphoblastic(MOLT-4)14
Liver22.6
Lung12.35
Lymphnode6.1
Lymphoma_burkitts(Daudi)12.25
Lymphoma_burkitts(Raji)38.15
MedullaOblongata6.25
OccipitalLobe7.9
OlfactoryBulb12.8
Ovary7.25
Pancreas18.65
PancreaticIslet11.75
ParietalLobe9.6
Pituitary9.8
Placenta25.15
Pons8.5
PrefrontalCortex8.4
Prostate61.9
Salivarygland6.85
SkeletalMuscle14.3
Skin8.8
SmoothMuscle10.1
Spinalcord7.75
SubthalamicNucleus10.25
SuperiorCervicalGanglion10.05
TemporalLobe7.6
Testis6.05
TestisGermCell5.6
TestisIntersitial5.95
TestisLeydigCell8.25
TestisSeminiferousTubule8.85
Thalamus7.05
Thymus20.65
Thyroid10.8
Tongue21.05
Tonsil9.65
Trachea7.4
TrigeminalGanglion10.2
Uterus8.9
UterusCorpus7.9
WholeBlood8.3
Wholebrain7.95
colon59.75
pineal_day173.26
pineal_night112.1
retina9.15
small_intestine20.2
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16914_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
Amygdala6.41 ± 0.42
Basal Forebrain6.62 ± 0.19
Basal Part of Pons6.59 ± 0.27
Cerebellar Cortex6.7 ± 0.3
Cerebellar Nuclei6.45 ± 0.51
Claustrum6.27 ± 0.45
Epithalamus6.63 ± 0.25
Frontal Lobe6.43 ± 0.32
Globus Pallidus6.26 ± 0.38
Hypothalamus6.47 ± 0.26
Insula6.39 ± 0.49
Limbic Lobe6.5 ± 0.36
Mesencephalon6.38 ± 0.42
Myelencephalon6.46 ± 0.35
Occipital Lobe6.64 ± 0.25
Parietal Lobe6.59 ± 0.35
Pontine Tegmentum6.54 ± 0.31
Striatum6.44 ± 0.3
Subthalamus6.18 ± 0.42
Temporal Lobe6.53 ± 0.31
Thalamus6.52 ± 0.3
White Matter6.92 ± 0.11
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Top1CBCerebellum34.49
41.47
Top1CTXCerebral cortex100
68.5
Top1HIPHippocampal region65.77
88.6
Top1HPFHippocampal formation75.49
77.9
Top1HYHypothalamus43.27
29.27
Top1LSXLateral septal complex65.4
37.09
Top1MBMidbrain38.37
29.52
Top1MYMedulla39.31
36.81
Top1OLFOlfactory bulb90.31
69.3
Top1PPons39.17
34.5
Top1PALPallidum49.98
39.2
Top1RHPRetrohippocampal region88.19
59.85
Top1sAMYStriatum-like amygdalar nuclei62.17
37.47
Top1STRStriatum79.07
48.7
Top1STRdStriatum dorsal region78.99
47.55
Top1STRvStriatum ventral region89.7
63.92
Top1THThalamus67.14
50.15
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00000373 20 489 508 AGNEKEEGETADTVGCCSLR Peptide Atlas
TOP1_HUMAN_2 16 2 17 SGDHLHNDSQIEADFR PRIDE
TOP1_HUMAN_576 12 576 587 HLQDLMEGLTAK PRIDE

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