Global Variome shared LOVD
PEX6 (peroxisomal biogenesis factor 6)
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Curator:
Nancy Braverman
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All screenings for gene PEX6
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 (cDNA) or protein
All options:
DNA
RNA = RNA (cDNA)
protein
? = unknown
Technique
: technique(s) used to identify the sequence variant.
All options:
? = unknown
ARMS = amplification refractory mutation system
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)
ASO = allele-specific oligo hybridisation
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
COBRA = Combined Bisulfite Restriction Analysis
CSCE = Conformation Sensitive Capillary Electrophoresis
CSGE = Conformation Sensitive Gel Electrophoresis
ddF = dideoxy Fingerprinting
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
DSCA = Double-Strand DNA Conformation Analysis
DSDI = Detection Small Deletions and Insertions
EMC = Enzymatic Mismatch Cleavage
expr = expression analysis
FISH = Fluorescent In-Situ Hybridisation
FISHf = fiberFISH
HD = HeteroDuplex analysis
HPLC = High-Performance Liquid Chromatography
IEF = IsoElectric Focussing
IHC = Immuno-Histo-Chemistry
Invader = Invader assay
MAPH = Multiplex Amplifiable Probe Hybridisation
MAQ = Multiplex Amplicon Quantification
MCA = Melting Curve Analysis, high-resolution (HRMA)
microscope = microscopic analysis (karyotype)
microsat = microsatellite genotyping
minigene = expression minigene construct
MIP = Molecular Inversion Probe amplification
MIPsm = singele molecule Molecular Inversion Probe amplification
MLPA = Multiplex Ligation-dependent Probe Amplification
MLPA-ms = Multiplex Ligation-dependent Probe Amplification, methylation specific
MS = mass spectrometry
Northern = Northern blotting
NUC = nuclease digestion (RNAseT1, S1)
OM = optical mapping
PAGE = Poly-Acrylamide Gel-Electrophoresis
PCR = Polymerase Chain Reaction
PCRdd = PCR, digital droplet
PCRdig = PCR + restriction enzyme digestion
PCRh = PCR, haloplex
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRms = PCR, methylation sensitive
PCRq = PCR, quantitative (qPCR)
PCRrp = PCR, repeat-primed (RP-PCR)
PCRsqd = PCR, semi-quantitative duplex
PE = primer extension (APEX, SNaPshot)
PEms = primer extension, methylation-sensitive single-nucleotide
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
PTT = Protein Truncation Test
RFLP = Restriction Fragment Length Polymorphisms
RT-PCR = Reverse Transcription and PCR
RT-PCRq = Reverse Transcription and PCR, quantitative
SBE = Single Base Extension
SEQ = SEQuencing (Sanger)
SEQb = bisulfite SEQuencing
SEQp = pyroSequencing
SEQms = sequencing, methylation specific
SEQ-ON = next-generation sequencing - Oxford Nanopore
SEQ-NG = next-generation sequencing
SEQ-NG-H = next-generation sequencing - Helicos
SEQ-NG-I = next-generation sequencing - Illumina/Solexa
SEQ-NG-IT = next-generation sequencing - Ion Torrent
SEQ-NG-R = next-generation sequencing - Roche/454
SEQ-NG-S = next-generation sequencing - SOLiD
SEQ-PB = next-generation sequencing - Pacific Biosciences
SNPlex = SNPlex
Southern = Southern blotting
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = fluorescent SSCA (SSCP)
STR = Short Tandem Repeat
TaqMan = TaqMan assay
Western = Western blotting
- = not applicable
Tissue
: tissue type used for analysis
Remarks
: remarks regarding the screening like WGS (whole genome sequencing), WES (whole exome sequencing, gene panel (incl. a list of genes analysed), etc.
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.
165 entries on 2 pages. Showing entries 1 - 100.
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How to query
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000050072
00050127
DNA
SEQ-NG-I
blood
-
1
Hanno Bolz
0000065424
00065273
DNA
SEQ;SEQ-NG
-
-
2
Jamie Zeegers
0000065425
00065274
DNA
SEQ;SEQ-NG
-
-
2
Jamie Zeegers
0000065426
00065275
DNA
SEQ;SEQ-NG
-
-
2
Jamie Zeegers
0000065427
00065276
DNA
SEQ;SEQ-NG
-
-
2
Jamie Zeegers
0000080941
00080829
DNA
SEQ;SEQ-NG
-
-
1
Daniel Trujillano
0000283513
00282363
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284449
00283299
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284451
00283301
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284452
00283302
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284455
00283305
DNA
SEQ
-
-
2
Global Variome, with Curator vacancy
0000284456
00283306
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284457
00283307
DNA
SEQ
-
-
2
Global Variome, with Curator vacancy
0000284458
00283308
DNA;RNA
RT-PCR;SEQ
-
-
2
Nancy Braverman
0000284459
00283309
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284460
00283310
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284461
00283311
DNA;RNA
RT-PCR;SEQ
-
-
2
Nancy Braverman
0000284462
00283312
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000284463
00283313
DNA;RNA
RT-PCR;SEQ
-
-
2
Global Variome, with Curator vacancy
0000284464
00283314
DNA;RNA
RT-PCR;SEQ
-
-
3
Nancy Braverman
0000284467
00283317
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284471
00283321
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284473
00283323
DNA;RNA
RT-PCR;SEQ
-
-
3
Nancy Braverman
0000284474
00283324
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284482
00283332
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284484
00283334
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284485
00283335
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000284488
00283338
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000284489
00283339
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284496
00283346
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284498
00283348
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000284501
00283351
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284502
00283352
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284503
00283353
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284504
00283354
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284505
00283355
DNA
SEQ
-
-
3
Global Variome, with Curator vacancy
0000284506
00283356
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000284511
00283361
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000284512
00283362
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284513
00283363
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000284514
00283364
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284515
00283365
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284517
00283367
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284518
00283368
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284522
00283372
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284524
00283374
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000284526
00283376
DNA;RNA
RT-PCR;SEQ
-
-
1
Global Variome, with Curator vacancy
0000284527
00283377
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284528
00283378
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000284529
00283379
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284530
00283380
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284531
00283381
DNA
SEQ
-
-
2
Global Variome, with Curator vacancy
0000284532
00283382
DNA;RNA
RT-PCR;SEQ
-
-
2
Nancy Braverman
0000284534
00283384
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000284535
00283385
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000284536
00283386
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000310443
00309298
DNA
SEQ
-
-
1
Global Variome, with Curator vacancy
0000311252
00310104
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000311253
00310105
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000311254
00310106
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000311255
00310107
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000311256
00310108
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000311257
00310109
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000311258
00310110
DNA;RNA
RT-PCR;SEQ
-
-
2
Johan den Dunnen
0000311259
00310111
DNA;RNA
RT-PCR;SEQ
-
-
4
Johan den Dunnen
0000311262
00310113
DNA
SEQ
-
-
1
Nancy Braverman
0000311263
00310114
DNA
SEQ
-
-
1
Nancy Braverman
0000311264
00310115
DNA
SEQ
-
-
1
Nancy Braverman
0000311265
00310116
DNA
SEQ
-
-
1
Nancy Braverman
0000311266
00310117
DNA
SEQ
-
-
1
Nancy Braverman
0000311267
00310118
DNA
SEQ
-
-
1
Nancy Braverman
0000311269
00310120
DNA
SEQ
-
-
1
Nancy Braverman
0000311270
00310121
DNA
SEQ
-
-
1
Nancy Braverman
0000311271
00310122
DNA
SEQ
-
-
1
Nancy Braverman
0000311272
00310123
DNA
SEQ
-
-
1
Nancy Braverman
0000311273
00310124
DNA
SEQ
-
-
1
Nancy Braverman
0000311276
00310127
DNA
SEQ
-
-
1
Nancy Braverman
0000311278
00310129
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311279
00310130
DNA;RNA
RT-PCR;SEQ
-
-
2
Nancy Braverman
0000311280
00310131
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311281
00310132
DNA;RNA
RT-PCR;SEQ
-
-
3
Nancy Braverman
0000311282
00310133
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311283
00310134
DNA
SEQ
-
-
2
Nancy Braverman
0000311285
00310136
DNA
SEQ
-
-
1
Nancy Braverman
0000311286
00310137
DNA;RNA
RT-PCR;SEQ
-
-
2
Nancy Braverman
0000311287
00310138
DNA
SEQ
-
-
2
Nancy Braverman
0000311288
00310139
DNA;RNA
RT-PCR;SEQ
-
-
3
Nancy Braverman
0000311289
00310140
DNA;RNA
RT-PCR;SEQ
-
-
2
Nancy Braverman
0000311290
00310141
DNA
SEQ
-
-
1
Nancy Braverman
0000311291
00310142
DNA
SEQ
-
-
1
Nancy Braverman
0000311292
00310143
DNA
SEQ
-
-
1
Nancy Braverman
0000311293
00310144
DNA
SEQ
-
-
1
Nancy Braverman
0000311294
00310145
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311295
00310146
DNA
SEQ
-
-
1
Nancy Braverman
0000311296
00310147
DNA
SEQ
-
-
2
Nancy Braverman
0000311297
00310148
DNA
SEQ
-
-
2
Nancy Braverman
0000311298
00310149
DNA
SEQ
-
-
2
Nancy Braverman
0000311299
00310150
DNA
SEQ
-
-
2
Nancy Braverman
0000311300
00310151
DNA
SEQ
-
-
1
Nancy Braverman
0000311301
00310152
DNA
SEQ
-
-
1
Nancy Braverman
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