NDDVD - Neurodegenerative Diseases Variation Database
SQSTM1 (sequestosome 1)
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Curator:
Y Yang
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View all variants affecting transcripts
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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 screenings for 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.
Template
: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:
DNA
RNA = RNA (cDNA)
Protein
? = unknown
Technique
: Technique(s) used to identify the sequence variant.
All options:
? = Unknown
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CSCE = Conformation Sensitive Capillary Electrophoresis
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG = Next-Generation Sequencing
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SEQ = SEQuencing
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting
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.
40 entries on 1 page. Showing entries 1 - 40.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000000689
00000689
?
?
1
Y Yang
0000000690
00000690
?
?
1
Y Yang
0000000691
00000691
?
?
1
Y Yang
0000000692
00000692
?
?
1
Y Yang
0000000693
00000693
?
?
1
Y Yang
0000000694
00000694
?
?
1
Y Yang
0000000695
00000695
?
?
1
Y Yang
0000000696
00000696
?
?
1
Y Yang
0000005187
00005184
?
?
1
XY Liu
0000005188
00005185
?
?
1
XY Liu
0000005189
00005186
?
?
1
XY Liu
0000005190
00005187
?
?
1
XY Liu
0000005191
00005188
?
?
1
XY Liu
0000005192
00005189
?
?
1
XY Liu
0000005517
00005506
?
?
1
XY Liu
0000005518
00005507
?
?
1
XY Liu
0000005519
00005508
?
?
1
XY Liu
0000005520
00005509
?
?
1
XY Liu
0000005521
00005510
?
?
1
XY Liu
0000005522
00005511
?
?
1
XY Liu
0000005523
00005512
?
?
1
XY Liu
0000005524
00005513
?
?
1
XY Liu
0000005525
00005514
?
?
1
XY Liu
0000005526
00005515
?
?
1
XY Liu
0000005527
00005516
?
?
1
XY Liu
0000005535
00005524
?
?
1
XY Liu
0000005551
00005540
?
?
1
XY Liu
0000005552
00005541
?
?
1
XY Liu
0000005553
00005542
?
?
1
XY Liu
0000005554
00005543
?
?
1
XY Liu
0000005555
00005544
?
?
1
XY Liu
0000005556
00005545
?
?
1
XY Liu
0000005557
00005546
?
?
1
XY Liu
0000005558
00005547
?
?
1
XY Liu
0000006438
00006414
?
?
1
XY Liu
0000006439
00006415
?
?
1
XY Liu
0000006464
00006440
?
?
1
XY Liu
0000006465
00006441
?
?
1
XY Liu
0000006606
00006581
?
?
2
XY Liu
0000006607
00006582
?
?
2
XY Liu
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