AutismKB 2.0

Annotation Detail for TOP1MT


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Basic Information Top
Gene Symbol:TOP1MT ( - )
Gene Full Name: topoisomerase (DNA) I, mitochondrial
Band: 8q24.3
Quick LinksEntrez ID:116447; OMIM: 606387; Uniprot ID:TOP1M_HUMAN; ENSEMBL ID: ENSG00000184428; HGNC ID: 29787
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 body0 / 707610 
blastocyst0 / 623190 
fetus13 / 56401223
neonate0 / 310970 
infant0 / 236200 
juvenile10 / 55556179
adult77 / 193912139
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) tumor14 / 94178148
cervical tumor4 / 34366116
chondrosarcoma3 / 8282336
colorectal tumor4 / 11424635
esophageal tumor3 / 17290173
gastrointestinal tumor7 / 11936958
germ cell tumor18 / 26384568
glioma14 / 106883130
head and neck tumor4 / 13630229
kidney tumor1 / 6895914
leukemia9 / 9584293
liver tumor1 / 9635910
lung tumor12 / 103127116
lymphoma6 / 7175583
non-neoplasia3 / 9725030
normal76 / 336030722
ovarian tumor0 / 766820 
pancreatic tumor4 / 10461638
primitive neuroectodermal tumor of the CNS33 / 125680262
prostate cancer6 / 10268058
retinoblastoma1 / 4635621
skin tumor5 / 12494940
soft tissue/muscle tissue tumor7 / 12519155
uterine tumor5 / 9025755
Pool Name Gene EST/Total EST in pool Transcripts per million(TPM) Bar based on TPM
adipose tissue0 / 131060 
adrenal gland1 / 3319730
ascites2 / 4001549
bladder2 / 2975767
blood6 / 12347848
bone2 / 7165527
bone marrow6 / 48801122
brain46 / 110098941
cervix6 / 48171124
connective tissue2 / 14925513
ear0 / 162120 
embryonic tissue0 / 2157220 
esophagus3 / 20209148
eye9 / 21105442
heart0 / 896260 
intestine11 / 23447246
kidney2 / 2117779
larynx1 / 2414541
liver2 / 2077439
lung17 / 33697450
lymph0 / 442700 
lymph node0 / 916100 
mammary gland14 / 15327191
mouth0 / 670520 
muscle0 / 1077150 
nerve0 / 157680 
ovary3 / 10205129
pancreas4 / 21481218
parathyroid1 / 2053948
pharynx1 / 4132824
pituitary gland1 / 1658560
placenta13 / 28082546
prostate7 / 18934536
salivary gland0 / 201550 
skin5 / 21057423
spleen2 / 5395237
stomach4 / 9661941
testis12 / 33044236
thymus6 / 8113173
thyroid2 / 4747342
tonsil0 / 169990 
trachea0 / 524130 
umbilical cord0 / 136800 
uterus14 / 23287860
vascular1 / 5178019
Microarray in BioGPS Top
Allen Brain Atlas Top
Human Whole Brain Microarrayview in Allen Brain Atlas
  • Probe id     Donor id      
  • Probe name: CUST_12285_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
Amygdala5.54 ± 0.64
Basal Forebrain5.76 ± 0.44
Basal Part of Pons5.09 ± 0.7
Cerebellar Cortex4.81 ± 0.55
Cerebellar Nuclei5.32 ± 0.56
Claustrum6.45 ± 0.87
Epithalamus4.49 ± 0.63
Frontal Lobe5.28 ± 0.75
Globus Pallidus6.21 ± 0.6
Hypothalamus4.83 ± 1.1
Insula5.06 ± 0.61
Limbic Lobe5.65 ± 0.83
Mesencephalon5.45 ± 0.74
Myelencephalon5.5 ± 0.76
Occipital Lobe5.43 ± 0.78
Parietal Lobe5.39 ± 0.73
Pontine Tegmentum5.26 ± 0.69
Striatum5.53 ± 0.67
Subthalamus5.28 ± 0.43
Temporal Lobe5.36 ± 0.76
Thalamus5.43 ± 0.61
White Matter6.1 ± 0.39
Mouse Brain ISH
Gene Symbol Brain Structure ID Brain Structure Name Express Desity/Level (Meatured by ISH) Express Bar
Top1mtCBCerebellum12.58
15.24
Top1mtCTXCerebral cortex22.2
16.06
Top1mtHIPHippocampal region24.4
25.5
Top1mtHPFHippocampal formation26.43
24.34
Top1mtHYHypothalamus19.11
15.08
Top1mtLSXLateral septal complex21.98
15.61
Top1mtMBMidbrain13.7
12.7
Top1mtMYMedulla20.06
21.2
Top1mtOLFOlfactory bulb29.87
22.92
Top1mtPPons18.43
19.57
Top1mtPALPallidum17.83
14.97
Top1mtRHPRetrohippocampal region30.51
23.27
Top1mtsAMYStriatum-like amygdalar nuclei28.68
20.42
Top1mtSTRStriatum13.85
9.99
Top1mtSTRdStriatum dorsal region11.15
8.44
Top1mtSTRvStriatum ventral region13.4
8.45
Top1mtTHThalamus20.49
16.71
Peptide Top
Peptide Name Peptide Lengh Peptide Start Peptide End Peptide Sequence Source
PAp00074783 9 99 107 MLDHEYTTK Peptide Atlas
TOP1M_HUMAN_112 8 112 119 KNFFNDWR 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