NDDVD - Neurodegenerative Diseases Variation Database
SQSTM1 (sequestosome 1)
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Curator:
Y Yang
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View all transcripts of gene SQSTM1
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View all variants affecting transcripts
View unique variants in gene SQSTM1
View all variants in gene SQSTM1
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View all individuals with variants in gene SQSTM1
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View all diseases associated with gene SQSTM1
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All individuals with variants in gene SQSTM1
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
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
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.
40 entries on 1 page. Showing entries 1 - 40.
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Legend
How to query
Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00000689
Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Yuan L, Pan L, Hadano S, Shang HF.(2014)
Han Chinese
-
ALS
-
1
1
Y Yang
00000690
Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Yuan L, Pan L, Hadano S, Shang HF.(2014)
Han Chinese
-
ALS
-
1
1
Y Yang
00000691
Kwok CT1, Morris A1, de Belleroche JS1.(2014)
-
-
ALS
-
1
1
Y Yang
00000692
Kwok CT1, Morris A1, de Belleroche JS1.(2014)
-
-
ALS
-
1
1
Y Yang
00000693
Kwok CT1, Morris A1, de Belleroche JS1.(2014)
-
-
ALS
-
1
1
Y Yang
00000694
Kwok CT1, Morris A1, de Belleroche JS1.(2014)
-
-
ALS
-
1
1
Y Yang
00000695
Kwok CT1, Morris A1, de Belleroche JS1.(2014)
-
-
ALS
-
1
1
Y Yang
00000696
Kwok CT1, Morris A1, de Belleroche JS1.(2014)
-
-
ALS
-
1
1
Y Yang
00005184
Yang Y et al. (2015)
Chinese
-
ALS
-
1
1
XY Liu
00005185
Yang Y et al. (2015)
Chinese
-
ALS
-
1
1
XY Liu
00005186
Yang Y et al. (2015)
Chinese
-
ALS
-
1
1
XY Liu
00005187
Yang Y et al. (2015)
Chinese
-
AD
-
1
1
XY Liu
00005188
Yang Y et al. (2015)
Chinese
-
ALS
-
1
1
XY Liu
00005189
Yang Y et al. (2015)
Chinese
-
ALS
-
1
1
XY Liu
00005506
Miller L et al. (2015)
-
-
FTLD
-
1
1
XY Liu
00005507
Miller L et al. (2015)
-
-
FTLD
-
1
1
XY Liu
00005508
Miller L et al. (2015)
-
-
FTLD
-
1
1
XY Liu
00005509
Miller L et al. (2015)
-
-
FTLD
-
1
1
XY Liu
00005510
Miller L et al. (2015)
-
-
FTLD
-
1
1
XY Liu
00005511
Miller L et al. (2015)
-
-
FTLD
-
1
1
XY Liu
00005512
Miller L et al. (2015)
-
-
FTLD
-
1
1
XY Liu
00005513
Miller L et al. (2015)
-
-
FTLD
-
1
1
XY Liu
00005514
Miller L et al. (2015)
-
-
FTLD
-
1
1
XY Liu
00005515
Miller L et al. (2015)
-
-
FTLD
-
1
1
XY Liu
00005516
Miller L et al. (2015)
-
-
FTLD
-
1
1
XY Liu
00005524
Kovacs GG et al. (2016)
-
-
FTLD
-
1
1
XY Liu
00005540
Luis E et al. (2016)
-
-
FTLD
-
1
1
XY Liu
00005541
Luis E et al. (2016)
-
-
FTLD
-
1
1
XY Liu
00005542
Luis E et al. (2016)
-
-
FTLD
-
1
1
XY Liu
00005543
Luis E et al. (2016)
-
-
FTLD
-
1
1
XY Liu
00005544
Luis E et al. (2016)
-
-
FTLD
-
1
1
XY Liu
00005545
Luis E et al. (2016)
-
-
FTLD
-
1
1
XY Liu
00005546
Luis E et al. (2016)
-
-
FTLD
-
1
1
XY Liu
00005547
Luis E et al. (2016)
-
-
FTLD
-
1
1
XY Liu
00006414
Makito Hirano, Yusaku Nakamura, Kazumasa Saigoh, et al. (2013)
Japanese
-
ALS
-
1
1
XY Liu
00006415
Makito Hirano, Yusaku Nakamura, Kazumasa Saigoh, et al. (2013)
Japanese
-
ALS
-
1
1
XY Liu
00006440
Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Yuan L, Pan L, Hadano S, Shang HF.(2014)
Han Chinese
-
ALS
-
1
1
XY Liu
00006441
Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Yuan L, Pan L, Hadano S, Shang HF.(2014)
Han Chinese
-
ALS
-
1
1
XY Liu
00006581
Xiaolu Liu, et al. (2021)
Chinese
-
ALS
-
1
1
XY Liu
00006582
Xiaolu Liu, et al. (2021)
Chinese
-
ALS
-
1
1
XY Liu
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