The TWIST1 gene homepage

General information
Gene symbol	TWIST1
Gene name	twist family bHLH transcription factor 1
Chromosome	7
Chromosomal band	p21
Imprinted	Unknown
Genomic reference	NG_008114.1
Transcript reference	NM_000474.3, XM_005249835.1, XM_005249836.1
Associated with diseases	CRS-1, ID, Saethre-Cho., Robinow-Sorauf syndrome
Citation reference(s)	-
Curators (1)	Johan T. den Dunnen
Total number of public variants reported	0
Unique public DNA variants reported	0
Individuals with public variants	0
Hidden variants	15
Date created	October 30, 2013
Date last updated	July 10, 2015
Version	TWIST1:150710

Links to other resources
External URL	List of LSDBs for this gene The reference LOVD for this gene, if available
HGNC	HGNC:12428
Entrez Gene	7291
PubMed articles	TWIST1
OMIM - Gene	601622
OMIM - Diseases	CRS-1 (craniosynostosis, type 1 (CRS-1)) Saethre-Cho. (Saethre-Chotzen syndrome) Robinow-Sorauf syndrome
HGMD	TWIST1
GeneCards	TWIST1
GeneTests	TWIST1

Active transcripts

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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
00008391	7	twist basic helix-loop-helix transcription factor 1	NM_000474.3	NP_000465.1	-
00046332	7	twist basic helix-loop-helix transcription factor 1, transcript variant X1	XM_005249835.1	-	-
00049517	7	twist basic helix-loop-helix transcription factor 1, transcript variant X2	XM_005249836.1	-	-

Copyright & disclaimer
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TWIST1 (twist family bHLH transcription factor 1)