KCNQ1OT1 (KCNQ1 opposite strand/antisense transcript 1)

2003-02-01  

Identity

HGNC
LOCATION
11p15.5
LOCUSID
ALIAS
KCNQ1-AS2,KCNQ10T1,Kncq1,KvDMR1,KvLQT1-AS,LIT1,NCRNA00012

Other Information

Locus ID:

NCBI: 10984
MIM: 604115
HGNC: 6295
Ensembl: ENSG00000269821

Variants:

dbSNP: 10984
ClinVar: 10984
TCGA: ENSG00000269821
COSMIC: KCNQ1OT1

RNA/Proteins

Expression (GTEx)

0
1
2
3

References

Pubmed IDYearTitleCitations
124398232003Association of in vitro fertilization with Beckwith-Wiedemann syndrome and epigenetic alterations of LIT1 and H19.161
127726982003In vitro fertilization may increase the risk of Beckwith-Wiedemann syndrome related to the abnormal imprinting of the KCN1OT gene.87
118131342002Epigenetic alterations of H19 and LIT1 distinguish patients with Beckwith-Wiedemann syndrome with cancer and birth defects.70
197114512009Clone- and gene-specific aberrations of parental imprinting in human induced pluripotent stem cells.63
103698661999LIT1, an imprinted antisense RNA in the human KvLQT1 locus identified by screening for differentially expressed transcripts using monochromosomal hybrids.60
180796962008Two distinct mechanisms of silencing by the KvDMR1 imprinting control region.60
182993922008Kcnq1ot1/Lit1 noncoding RNA mediates transcriptional silencing by targeting to the perinucleolar region.50
153400492004An antisense RNA regulates the bidirectional silencing property of the Kcnq1 imprinting control region.44
146276662003Silencing of CDKN1C (p57KIP2) is associated with hypomethylation at KvDMR1 in Beckwith-Wiedemann syndrome.36
158887262005ZAC, LIT1 (KCNQ1OT1) and p57KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith-Wiedemann syndrome.35

Citation

Dessen P

KCNQ1OT1 (KCNQ1 opposite strand/antisense transcript 1)

Atlas Genet Cytogenet Oncol Haematol. 2003-02-01

Online version: http://atlasgeneticsoncology.org/gene/307/kcnq1ot1