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
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
25O-linkedHMM predict
25O-linkedHMM predict
26MethylarginineHMM predict
86Phosphoserine(CK2)HMM predict
86Phosphoserine(PKG)HMM predict
176Phosphotyrosine(Jak)HMM predict
198MethylarginineHMM predict
214Phosphothreonine(PKA)HMM predict
472Phosphothreonine(MAPK)HMM predict
542Phosphothreonine(CK2)HMM predict
588PhenylalanineHMM predict
589PhenylalanineHMM predict
591PhenylalanineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_052963
  • Location:chr8 144462904-144488424
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 144493172 144493809 637 5066
H3ac HepG2E 144493127 144493898 771 5088
NRSF pAbJurkat 144494993 144495249 256 6697
NRSF pAbJurkat 144497750 144499038 1288 9970
Rb shRbSenescenceGSE19898 144498277 144498471 194 9950
hScc1 BcellGSE12603 144493234 144494013 779 5199
hScc1 BcellGSE12603 144494479 144494767 288 6199
hScc1 BcellGSE12603 144497939 144498922 983 10006
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 144460272 144462109 1837 1714
H3ac HepG2E 144460808 144461794 986 1604
NRSF pAbJurkat 144460808 144461361 553 1820
USF2 HepG2E 144460843 144461762 919 1602
hScc1 BcellGSE12603 144459081 144459375 294 3677
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Myc hESGSE17917 144488237 144488491 254 0
NRSF pAbJurkat 144469237 144470615 1378 0
NRSF pAbJurkat 144471840 144472257 417 0
NRSF pAbJurkat 144482280 144482496 216 0
P300 T30-glioblastomaGSE21026 144487623 144488661 1038 0
PHF8 HeLaGSE20725 144487607 144489179 1572 0
PHF8 Hs68minusFBSGSE20725 144487785 144488762 977 0
RUNX JurkatGSE17954 144475469 144475560 91 0
RUNX JurkatGSE17954 144476733 144476869 136 0
TFAP2C MCF7GSE21234 144474160 144474537 377 0
TFAP2C MCF7GSE21234 144485225 144485841 616 0
hScc1 BcellGSE12603 144462859 144463351 492 0
hScc1 BcellGSE12603 144469847 144470715 868 0
hScc1 BcellGSE12603 144472140 144472449 309 0
Validated miRNA targets Top
Cis-Nats regulation 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


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