Global Variome shared LOVD
PEX10 (peroxisomal biogenesis factor 10)
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Curator:
Nancy Braverman
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All screenings for gene PEX10
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.
41 entries on 1 page. Showing entries 1 - 41.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000000117
00000125
DNA;RNA
RT-PCR;SEQ
-
-
2
Ivo F.A.C. Fokkema
0000000118
00000126
DNA;RNA
RT-PCR;SEQ
-
-
1
Ivo F.A.C. Fokkema
0000000119
00000127
DNA;RNA
RT-PCR;SEQ
-
-
2
Ivo F.A.C. Fokkema
0000311149
00310001
DNA
SEQ
-
-
1
Nancy Braverman
0000311150
00310002
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311151
00310003
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311152
00310004
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311153
00310005
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311154
00310006
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311155
00310007
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311156
00310008
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311157
00310009
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311158
00310010
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311159
00310011
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311160
00310012
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311161
00310013
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311162
00310014
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311163
00310015
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311164
00310016
DNA
SEQ
-
-
1
Shandi Hiebler
0000311165
00310017
DNA
SEQ
-
-
1
Shandi Hiebler
0000311166
00310018
DNA
SEQ
-
-
1
Shandi Hiebler
0000311167
00310019
DNA
SEQ
-
-
1
Shandi Hiebler
0000311168
00310020
DNA
SEQ
-
-
2
Nancy Braverman
0000311169
00310021
DNA
SEQ
-
-
2
Nancy Braverman
0000311170
00310022
DNA
SEQ
-
-
2
Nancy Braverman
0000311171
00310023
DNA;RNA
RT-PCR;SEQ
-
-
2
Nancy Braverman
0000311172
00310024
DNA;RNA
RT-PCR;SEQ
-
-
2
Nancy Braverman
0000311173
00310025
DNA
SEQ
-
-
2
Nancy Braverman
0000311174
00310026
DNA;RNA
RT-PCR;SEQ
-
-
2
Nancy Braverman
0000311175
00310027
DNA
SEQ
-
-
1
Nancy Braverman
0000311177
00310029
DNA
SEQ
-
-
2
Nancy Braverman
0000311182
00310034
DNA
SEQ
-
-
1
Johan den Dunnen
0000311183
00310035
DNA
SEQ
-
-
1
Johan den Dunnen
0000311184
00310036
DNA
SEQ
-
-
1
Johan den Dunnen
0000311185
00310037
DNA
SEQ
-
-
1
Johan den Dunnen
0000311186
00310038
DNA
SEQ
-
-
1
Johan den Dunnen
0000311190
00310042
DNA
SEQ
-
-
3
Johan den Dunnen
0000311765
00310613
DNA
SEQ
-
-
2
Johan den Dunnen
0000311766
00310614
DNA
SEQ
-
-
2
Johan den Dunnen
0000311818
00310666
DNA
SEQ
-
-
1
Johan den Dunnen
0000388104
00386876
DNA
SEQ-NG-I;SEQ
blood
-
1
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