NDDVD - Neurodegenerative Diseases Variation Database
OPTN (optineurin)
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Curator:
XY Liu
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View OPTN gene homepage
View graphs about the OPTN gene database
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View all transcripts
View all transcripts of gene OPTN
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View all variants
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 active genomic custom columns
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View all individuals
View all individuals with variants in gene OPTN
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View all diseases
View all diseases associated with gene OPTN
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View available phenotype columns
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View all screenings for gene OPTN
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Submit new data
All screenings for 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.
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.
31 entries on 1 page. Showing entries 1 - 31.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000005270
00005267
?
?
1
XY Liu
0000005324
00005321
?
?
1
XY Liu
0000005392
00005388
?
?
1
XY Liu
0000005530
00005519
?
?
2
XY Liu
0000005531
00005520
?
?
2
XY Liu
0000006358
00006335
?
?
1
XY Liu
0000006359
00006336
?
?
1
XY Liu
0000006390
00006367
?
?
1
XY Liu
0000006391
00006368
?
?
1
XY Liu
0000006400
00006376
?
?
1
XY Liu
0000006403
00006379
?
?
1
XY Liu
0000006404
00006380
?
?
1
XY Liu
0000006406
00006382
?
?
1
XY Liu
0000006410
00006386
?
?
1
XY Liu
0000006425
00006401
?
?
1
XY Liu
0000006432
00006408
?
?
1
XY Liu
0000006474
00006450
?
?
2
XY Liu
0000006492
00006468
?
?
1
XY Liu
0000006493
00006469
?
?
1
XY Liu
0000006494
00006470
?
?
1
XY Liu
0000006495
00006471
?
?
1
XY Liu
0000006497
00006473
?
?
2
XY Liu
0000006528
00006504
?
?
1
XY Liu
0000006579
00006556
?
?
1
XY Liu
0000006580
00006557
?
?
1
XY Liu
0000006581
00006558
?
?
1
XY Liu
0000006608
00006583
?
?
1
XY Liu
0000006609
00006584
?
?
1
XY Liu
0000006610
00006585
?
?
1
XY Liu
0000006611
00006586
?
?
1
XY Liu
0000006632
00006608
?
?
1
XY Liu
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