Global Variome shared LOVD
PEX7 (peroxisomal biogenesis factor 7)
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Curators:
Nancy Braverman
and
Steven Steinberg
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View PEX7 gene homepage
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View all transcripts of gene PEX7
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View all variants affecting transcripts
View unique variants in gene PEX7
View all variants in gene PEX7
Full data view for gene PEX7
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View all individuals with variants in gene PEX7
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View all diseases associated with gene PEX7
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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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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000132914
00132076
DNA
SEQ-NG-I
-
-
2
Karina Silveira
0000311358
00310209
DNA
SEQ
-
-
2
Nancy Braverman
0000311359
00310210
DNA
SEQ
-
-
2
Nancy Braverman
0000311360
00310211
DNA
SEQ
-
-
2
Nancy Braverman
0000311361
00310212
DNA
SEQ
-
-
1
Nancy Braverman
0000311362
00310213
DNA
SEQ
-
-
2
Nancy Braverman
0000311363
00310214
DNA
SEQ
-
-
2
Nancy Braverman
0000311364
00310215
DNA
SEQ
-
-
2
Nancy Braverman
0000311365
00310216
DNA
SEQ
-
-
2
Nancy Braverman
0000311366
00310217
DNA
SEQ
-
-
2
Nancy Braverman
0000311367
00310218
DNA
SEQ
-
-
2
Nancy Braverman
0000311368
00310219
DNA
SEQ
-
-
2
Nancy Braverman
0000311369
00310220
DNA
SEQ
-
-
2
Nancy Braverman
0000311370
00310221
DNA
SEQ
-
-
2
Nancy Braverman
0000311371
00310222
DNA
SEQ
-
-
2
Nancy Braverman
0000311372
00310223
DNA
SEQ
-
-
2
Nancy Braverman
0000311373
00310224
DNA
SEQ
-
-
1
Nancy Braverman
0000311374
00310225
DNA
SEQ
-
-
2
Nancy Braverman
0000311375
00310226
DNA
SEQ
-
-
2
Nancy Braverman
0000311376
00310227
DNA
SEQ
-
-
2
Nancy Braverman
0000311377
00310228
DNA
SEQ
-
-
2
Nancy Braverman
0000311378
00310229
DNA
SEQ
-
-
2
Nancy Braverman
0000311379
00310230
DNA
ASO;SEQ
-
-
2
Nancy Braverman
0000311380
00310231
DNA
SEQ
-
-
2
Nancy Braverman
0000311381
00310232
DNA
SEQ
-
-
2
Nancy Braverman
0000311382
00310233
DNA
SEQ
-
-
2
Nancy Braverman
0000311383
00310234
DNA
SEQ
-
-
2
Nancy Braverman
0000311384
00310235
DNA
SEQ
-
-
1
Nancy Braverman
0000311385
00310236
DNA
SEQ
-
-
2
Nancy Braverman
0000311386
00310237
DNA
SEQ
-
-
2
Nancy Braverman
0000311387
00310238
DNA
ASO
-
-
2
Nancy Braverman
0000311388
00310239
DNA
ASO
-
-
2
Nancy Braverman
0000311389
00310240
DNA
SEQ
-
-
2
Nancy Braverman
0000311390
00310241
DNA
SEQ
-
-
2
Nancy Braverman
0000311391
00310242
DNA
SEQ
-
-
2
Nancy Braverman
0000311392
00310243
DNA
SEQ
-
-
1
Nancy Braverman
0000311393
00310244
DNA
SEQ
-
-
1
Nancy Braverman
0000311394
00310245
DNA
SEQ
-
-
3
Nancy Braverman
0000311395
00310246
DNA
SEQ
-
-
2
Nancy Braverman
0000311396
00310247
DNA
SEQ
-
-
2
Nancy Braverman
0000311397
00310248
DNA
SEQ
-
-
1
Nancy Braverman
0000311398
00310249
DNA
SEQ
-
-
1
Nancy Braverman
0000311399
00310250
DNA
SEQ
-
-
2
Nancy Braverman
0000311400
00310251
DNA
SEQ
-
-
2
Nancy Braverman
0000311401
00310252
DNA
SEQ
-
-
2
Nancy Braverman
0000311402
00310253
DNA
SEQ
-
-
2
Nancy Braverman
0000311403
00310254
DNA
SEQ
-
-
2
Nancy Braverman
0000311404
00310255
DNA
SEQ
-
-
2
Nancy Braverman
0000311405
00310256
DNA
SEQ
-
-
2
Nancy Braverman
0000311406
00310257
DNA
SEQ
-
-
2
Nancy Braverman
0000311407
00310258
DNA
SEQ
-
-
2
Nancy Braverman
0000311408
00310259
DNA
SEQ
-
-
2
Nancy Braverman
0000311409
00310260
DNA
SEQ
-
-
2
Nancy Braverman
0000311410
00310261
DNA
SEQ
-
-
1
Nancy Braverman
0000311411
00310262
DNA
SEQ
-
-
2
Nancy Braverman
0000311412
00310263
DNA
SEQ
-
-
2
Nancy Braverman
0000311413
00310264
DNA
SEQ
-
-
2
Nancy Braverman
0000311414
00310265
DNA
SEQ
-
-
2
Nancy Braverman
0000311415
00310266
DNA
SEQ
-
-
1
Nancy Braverman
0000311416
00310267
DNA
SEQ
-
-
1
Nancy Braverman
0000311417
00310268
DNA
ASO;SEQ
-
-
2
Nancy Braverman
0000311418
00310269
DNA
SEQ
-
-
2
Nancy Braverman
0000311419
00310270
DNA
SEQ
-
-
2
Nancy Braverman
0000311420
00310271
DNA
SEQ
-
-
1
Nancy Braverman
0000311421
00310272
DNA
SEQ
-
-
1
Nancy Braverman
0000311422
00310273
DNA
SEQ
-
-
1
Nancy Braverman
0000311423
00310274
DNA
SEQ
-
-
1
Nancy Braverman
0000311424
00310275
DNA
SEQ
-
-
1
Nancy Braverman
0000311425
00310276
DNA
SEQ
-
-
1
Nancy Braverman
0000311426
00310277
DNA
SEQ
-
-
1
Nancy Braverman
0000311427
00310278
DNA
SEQ
-
-
1
Nancy Braverman
0000311428
00310279
DNA
SEQ
-
-
1
Nancy Braverman
0000311429
00310280
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311430
00310281
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311431
00310282
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311432
00310283
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311433
00310284
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311434
00310285
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311435
00310286
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311436
00310287
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311437
00310288
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311438
00310289
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311439
00310290
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311440
00310291
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311441
00310292
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311442
00310293
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311443
00310294
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311444
00310295
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311445
00310296
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311446
00310297
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311447
00310298
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311448
00310299
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311449
00310300
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311450
00310301
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311451
00310302
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311452
00310303
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311453
00310304
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311454
00310305
DNA;RNA
RT-PCR;SEQ
-
-
1
Nancy Braverman
0000311455
00310306
DNA;RNA
RT-PCR;SEQ
-
-
2
Nancy Braverman
0000311456
00310307
DNA
SEQ
-
-
1
Nancy Braverman
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