AutismKB 2.0

Annotation Detail for TYMP


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Basic Information Top
Gene Symbol:TYMP ( ECGF1,MNGIE,PDECGF,TP,hPD-ECGF )
Gene Full Name: thymidine phosphorylase
Band: 22q13.33
Quick LinksEntrez ID:1890; OMIM: 131222; Uniprot ID:TYPH_HUMAN; ENSEMBL ID: ENSG00000025708; HGNC ID: 3148
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
6Phosphothreonine(MAPK)HMM predict
23Phosphoserine(ATM)HMM predict
30Phosphoserine(ATM)HMM predict
63N-linkedHMM predict
89Phosphoserine(CK1)HMM predict
207O-linkedHMM predict
210O-linkedHMM predict
364Phosphoserine(CDC2)HMM predict
435Phosphothreonine(PKA)HMM predict
448Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001953
  • Location:chr22 49311049-49315320
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 Hs68plusFBSGSE20725 49309946 49312088 2142 33
Rb GrowingGSE19898 49310962 49311115 153 11
Rb SenescentGSE19898 49310765 49311246 481 44
p130 shRbSenescentGSE19898 49310722 49311240 518 69
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 49310557 49311886 1329 0
NFkBII GM18526GSE19485 49310317 49313026 2709 0
Rb shRbSenescenceGSE19898 49311368 49311600 232 0
VDR GM10855-UnstimGSE22484 49308593 49319155 10562 0
VDR GM10855-stimGSE22484 49309343 49318783 9440 0
VDR GM10861-UnstimGSE22484 49308909 49318635 9726 0
VDR GM10861-stimGSE22484 49307888 49318923 11035 0
hScc1 CdLSGSE12603 49310557 49311723 1166 0
p130 QuiescentGSE19898 49312140 49312436 296 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