AutismKB 2.0

Annotation Detail for CMPK2


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Basic Information Top
Gene Symbol:CMPK2 ( TMPK2,TYKi,UMP-CMPK2 )
Gene Full Name: cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial
Band: 2p25.2
Quick LinksEntrez ID:129607; OMIM: 611787; Uniprot ID:CMPK2_HUMAN; ENSEMBL ID: ENSG00000134326; HGNC ID: 27015
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_207315
  • Location:chr2 6905903-6923386
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 6923978 6924274 296 740
CTCF CD4SISSRdata 6923978 6924274 296 740
CTCF G2GSE9613 6923691 6924059 368 489
p130 QuiescentGSE19898 6923267 6923522 255 8
p130 QuiescentGSE19898 6923648 6923877 229 376
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Gata1 K562GSE18868 6904624 6905411 787 886
Gata2 K562GSE18868 6904601 6905519 918 844
Myc K562GSE19551 6904779 6905350 571 839
Oct1 H2O2-HelaGSE14283 6894341 6894370 29 11548
Oct1 HelaGSE14283 6894339 6894371 32 11549
hScc1 G2GSE9613 6885745 6886220 475 19921
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 6922730 6923366 636 0
GABP k562GSE8489 6907101 6907683 582 0
Oct1 H2O2-HelaGSE14283 6911825 6911854 29 0
hScc1 BcellGSE12603 6922658 6923366 708 0
hScc1 G2GSE9613 6922776 6923726 950 0
Validated miRNA targets Top
Cis-Nats regulation Top
Cluster ID Plue Type Plus Gene Name Plus Chromosome Plus Start Plus End Overlap Length Minus Type Minus Gene Name Minus Chromosome Minus Star Minus End Type
13870 EST chr2 6956562 6977782 74 mRNA LOC129607 chr2 6931100 6956636Sense/Antisense (SA) pairs

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