NDDVD - Neurodegenerative Diseases Variation Database
OPTN (optineurin)
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Curator:
XY Liu
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View OPTN gene homepage
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View all transcripts of gene OPTN
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View all variants affecting transcripts
View unique variants in gene OPTN
View all variants in gene OPTN
Full data view for gene OPTN
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View all individuals with variants in gene OPTN
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View all diseases associated with gene OPTN
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View all screenings for gene OPTN
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All individuals with variants in gene OPTN
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Ethnic origin
: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Remarks
: Remarks about the individual.
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
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'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
31 entries on 1 page. Showing entries 1 - 31.
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Legend
How to query
Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00005267
Goldstein O et al. (2016)
-
-
ALS
-
1
1
XY Liu
00005321
Fifita JA et al. (2017)
-
-
ALS
-
1
1
XY Liu
00005388
McCann EP et al. (2017)
Australian
-
ALS
-
1
1
XY Liu
00005519
Pottier C et al. (2015)
-
-
FTLD
-
2
1
XY Liu
00005520
Pottier C et al. (2015)
-
-
FTLD
-
1
1
XY Liu
00006335
Hirofumi Maruyama, Hiroyuki Morino, Hidefumi Ito, Yuishin Izumi, et al.
-
-
ALS
-
1
1
XY Liu
00006336
Hirofumi Maruyama, Hiroyuki Morino, Hidefumi Ito, Yuishin Izumi, et al.
-
-
ALS
-
1
1
XY Liu
00006367
Stéphanie Millecamps, Séverine Boillée, Elodie Chabrol, et al.
French
-
ALS
-
1
1
XY Liu
00006368
Stéphanie Millecamps, Séverine Boillée, Elodie Chabrol, et al.
French
-
ALS
-
1
1
XY Liu
00006376
Hidefumi Ito, Masataka Nakamura, Osamu Komure, et al. (2011)
-
-
ALS
Clinically, slow deterioration of motor function, mood and personality changes, temporal lobe atrophy on neuroimaging, and bizarre finger deformity were noted.
1
1
XY Liu
00006379
Marka van Blitterswijk, Paul W J van Vught, Michael A van Es, Helenius J Schelhaas, Anneke J van der Kooi, Marianne de Visser, Jan H Veldink, Leonard H van den Berg (2012)
Dutch
-
ALS
-
1
1
XY Liu
00006380
Marka van Blitterswijk, Paul W J van Vught, Michael A van Es, Helenius J Schelhaas, Anneke J van der Kooi, Marianne de Visser, Jan H Veldink, Leonard H van den Berg (2012)
Dutch
-
ALS
-
1
1
XY Liu
00006382
Zeynep Tümer, Birgitte Bertelsen, Ole Gredal, Melinda Magyari, Karen Cecilie Nielsen, Lucamp, Karen Grønskov, Karen Brøndum-Nielsen (2011)
Danish
-
ALS
-
1
1
XY Liu
00006386
Jennifer A Solski, Kelly L Williams, Shu Yang, Garth A Nicholson, Ian P Blair (2012)
-
-
ALS
-
1
1
XY Liu
00006401
Hiroya Naruse, Yuji Takahashi, Tameko Kihira, Sohei Yoshida, Yasumasa Kokubo, Shigeki Kuzuhara, Hiroyuki Ishiura, Masaharu Amagasa, Shigeo Murayama, Shoji Tsuji, Jun Goto (2012)
Japanese
-
ALS
-
1
1
XY Liu
00006408
Jochen H Weishaupt, Stefan Waibel, Anna Birve, Alexander E Volk, Benjamin Mayer, Thomas Meyer, Albert C Ludolph, Peter M Andersen (2013)
Germany
-
ALS
-
1
1
XY Liu
00006450
Elisa Teyssou, Nadia Vandenberghe, Carine Moigneu, et al. (2014)
French
-
ALS
-
1
1
XY Liu
00006468
Chengyu Li, Ying Ji, Lu Tang, et al. (2015)
Chinese
-
ALS
-
1
1
XY Liu
00006469
Chengyu Li, Ying Ji, Lu Tang, et al. (2015)
Chinese
-
ALS
-
1
1
XY Liu
00006470
Chengyu Li, Ying Ji, Lu Tang, et al. (2015)
Chinese
-
ALS
-
1
1
XY Liu
00006471
Chengyu Li, Ying Ji, Lu Tang, et al. (2015)
Chinese
-
ALS
-
1
1
XY Liu
00006473
Li Di, Hai Chen, Yuwei Da, Suobing Wang, Xin-Ming Shen, et al. (2016)
Chinese
-
ALS
-
1
1
XY Liu
00006504
Sali M K Farhan, et al. (2017)
-
-
ALS, FTLD
-
1
1
XY Liu
00006556
Shu-Man Feng, et al. (2019)
-
-
ALS
-
1
1
XY Liu
00006557
Shu-Man Feng, et al. (2019)
-
-
ALS, FTLD
-
1
1
XY Liu
00006558
Shu-Man Feng, et al. (2019)
-
-
ALS
-
1
1
XY Liu
00006583
Lu Yang, et al. (2021)
Chinese
-
ALS
-
1
1
XY Liu
00006584
Lu Yang, et al. (2021)
Chinese
-
ALS
-
1
1
XY Liu
00006585
Lu Yang, et al. (2021)
Chinese
-
ALS
-
1
1
XY Liu
00006586
Lu Yang, et al. (2021)
Chinese
-
ALS
-
1
1
XY Liu
00006608
Matthew Nolan, et al. (2021)
-
-
ALS
-
1
1
XY Liu
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