AutismKB 2.0

Annotation Detail for TOPORS


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Basic Information Top
Gene Symbol:TOPORS ( LUN,P53BP3,RP31,TP53BPL )
Gene Full Name: topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase
Band: 9p21.1
Quick LinksEntrez ID:10210; OMIM: 609507; Uniprot ID:TOPRS_HUMAN; ENSEMBL ID: ENSG00000197579; HGNC ID: 21653
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
blastocyst1 / 6231916
fetus21 / 56401237
neonate3 / 3109796
infant0 / 236200 
juvenile1 / 5555617
adult51 / 193912126
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) tumor4 / 9417842
cervical tumor0 / 343660 
chondrosarcoma2 / 8282324
colorectal tumor3 / 11424626
esophageal tumor0 / 172900 
gastrointestinal tumor2 / 11936916
germ cell tumor8 / 26384530
glioma4 / 10688337
head and neck tumor3 / 13630222
kidney tumor3 / 6895943
leukemia2 / 9584220
liver tumor4 / 9635941
lung tumor0 / 1031270 
lymphoma1 / 7175513
non-neoplasia1 / 9725010
normal92 / 336030727
ovarian tumor3 / 7668239
pancreatic tumor0 / 1046160 
primitive neuroectodermal tumor of the CNS0 / 1256800 
prostate cancer4 / 10268038
retinoblastoma0 / 463560 
skin tumor2 / 12494916
soft tissue/muscle tissue tumor2 / 12519115
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
bladder1 / 2975733
blood3 / 12347824
bone1 / 7165513
bone marrow2 / 4880140
brain42 / 110098938
cervix0 / 481710 
connective tissue3 / 14925520
ear0 / 162120 
embryonic tissue3 / 21572213
esophagus0 / 202090 
eye3 / 21105414
heart1 / 8962611
intestine6 / 23447225
kidney9 / 21177742
larynx0 / 241450 
liver7 / 20774333
lung4 / 33697411
lymph1 / 4427022
lymph node3 / 9161032
mammary gland4 / 15327126
mouth3 / 6705244
muscle2 / 10771518
nerve0 / 157680 
ovary3 / 10205129
pancreas1 / 2148124
parathyroid1 / 2053948
pharynx0 / 413280 
pituitary gland1 / 1658560
placenta6 / 28082521
prostate6 / 18934531
salivary gland0 / 201550 
skin4 / 21057418
spleen1 / 5395218
stomach2 / 9661920
testis14 / 33044242
thymus4 / 8113149
thyroid0 / 474730 
tonsil0 / 169990 
trachea1 / 5241319
umbilical cord0 / 136800 
uterus4 / 23287817
vascular4 / 5178077
Microarray in BioGPS Top
Select probe  
  • Microarray Platform: GeneAtlas U133A, gcrma
  • Affymatrix Probe ID: 204071_s_at
Cell line Expression level Expression bar
721_B_lymphoblasts19.7
Adipocyte16.75
AdrenalCortex23.9
Adrenalgland15.1
Amygdala15.4
Appendix23.8
AtrioventricularNode20.75
BDCA4+_DentriticCells13.55
Bonemarrow20.5
BronchialEpithelialCells14.75
CD105+_Endothelial15.8
CD14+_Monocytes19.5
CD19+_BCells(neg._sel.)15.2
CD33+_Myeloid17.6
CD34+19.15
CD4+_Tcells14.05
CD56+_NKCells17.4
CD71+_EarlyErythroid15.7
CD8+_Tcells13.5
CardiacMyocytes34.3
Caudatenucleus14.2
Cerebellum13.1
CerebellumPeduncles24.05
CiliaryGanglion20.3
CingulateCortex18.8
Colorectaladenocarcinoma19.25
DorsalRootGanglion16.65
FetalThyroid18.7
Fetalbrain16
Fetalliver17.1
Fetallung10.3
GlobusPallidus16.1
Heart33.15
Hypothalamus16.05
Kidney16
Leukemia_chronicMyelogenousK-56214.45
Leukemia_promyelocytic-HL-6014.05
Leukemialymphoblastic(MOLT-4)11.45
Liver27.55
Lung15.9
Lymphnode12.15
Lymphoma_burkitts(Daudi)21.6
Lymphoma_burkitts(Raji)25.75
MedullaOblongata14.25
OccipitalLobe14.15
OlfactoryBulb13.25
Ovary15.75
Pancreas14.65
PancreaticIslet17.05
ParietalLobe19.4
Pituitary19.95
Placenta14.2
Pons16.7
PrefrontalCortex25.8
Prostate17.2
Salivarygland14
SkeletalMuscle33.15
Skin19.15
SmoothMuscle17.05
Spinalcord22.3
SubthalamicNucleus18.25
SuperiorCervicalGanglion32.7
TemporalLobe15.55
Testis12.45
TestisGermCell14.85
TestisIntersitial16.8
TestisLeydigCell18.15
TestisSeminiferousTubule14.45
Thalamus17.15
Thymus10.95
Thyroid20.2
Tongue19.85
Tonsil16.45
Trachea12.9
TrigeminalGanglion22.55
Uterus43.15
UterusCorpus17.3
WholeBlood84.4
Wholebrain14
colon14.65
pineal_day28.38
pineal_night21.46
retina17.175
small_intestine14
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_16266_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
Amygdala2.72 ± 1.05
Basal Forebrain2.26 ± 0.17
Basal Part of Pons2.11 ± 0.37
Cerebellar Cortex2.89 ± 0.43
Cerebellar Nuclei2.64 ± 0.78
Claustrum3.09 ± 0.8
Epithalamus2.03 ± 0.8
Frontal Lobe2.16 ± 0.64
Globus Pallidus2.38 ± 0.6
Hypothalamus2.32 ± 0.67
Insula1.95 ± 0.44
Limbic Lobe2.3 ± 0.67
Mesencephalon2.51 ± 0.8
Myelencephalon2.36 ± 0.66
Occipital Lobe2.47 ± 0.75
Parietal Lobe2.37 ± 0.7
Pontine Tegmentum2.32 ± 0.56
Striatum2.18 ± 0.6
Subthalamus2.53 ± 0.65
Temporal Lobe2.34 ± 0.72
Thalamus2.28 ± 0.61
White Matter2.98 ± 0.88
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
ToporsCBCerebellum2.73
2.86
ToporsCTXCerebral cortex3.6
2.43
ToporsHIPHippocampal region8.21
7.35
ToporsHPFHippocampal formation8.04
7.14
ToporsHYHypothalamus0.97
0.85
ToporsLSXLateral septal complex0.74
0.43
ToporsMBMidbrain1.5
1.52
ToporsMYMedulla2.41
2.26
ToporsOLFOlfactory bulb3.95
3.89
ToporsPPons1.42
1.41
ToporsPALPallidum1.17
1.14
ToporsRHPRetrohippocampal region8.11
7.07
ToporssAMYStriatum-like amygdalar nuclei0.54
0.33
ToporsSTRStriatum0.95
0.68
ToporsSTRdStriatum dorsal region0.97
0.73
ToporsSTRvStriatum ventral region1.2
0.79
ToporsTHThalamus1.29
1.11
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