The KCNQ1OT1 gene homepage

General information
Gene symbol	KCNQ1OT1
Gene name	KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
Chromosome	11
Chromosomal band	p15.5
Imprinted	Imprinted, maternal
Genomic reference	NG_016178.2
Transcript reference	NR_002728.2
Associated with diseases	BWS, ID
Citation reference(s)	-
Curators (1)	Global Variome, with Curator vacancy
Total number of public variants reported	33
Unique public DNA variants reported	22
Individuals with public variants	5
Hidden variants	1
Download all this gene's data	Download all data
Notes	Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created	June 25, 2012
Date last updated	December 03, 2023
Version	KCNQ1OT1:231203

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
UCSC Genome Browser	Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser	Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer	Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL	https://www.LOVD.nl/KCNQ1OT1
HGNC	6295
Entrez Gene	10984
PubMed articles	KCNQ1OT1
OMIM - Gene	604115
OMIM - Diseases	BWS (Beckwith-Wiedemann syndrome (BWS))
HGMD	KCNQ1OT1
GeneCards	KCNQ1OT1
GeneTests	KCNQ1OT1
Orphanet	KCNQ1OT1

Active transcripts

Legend

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How to query this table

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000239	11	KCNQ1 overlapping transcript 1 (non-protein coding)	NR_002728.2	-	33

Copyright & disclaimer
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Global Variome shared LOVD

KCNQ1OT1 (KCNQ1 opposite strand/antisense transcrip...)