Global Variome shared LOVD
PABPN1 (poly(A) binding protein, nuclear 1)
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Curators:
Global Variome, with Curator vacancy
and
Johan den Dunnen
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All screenings for gene PABPN1
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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
arrayMET = array for methylation analysis
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 = single 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-RNA = next-generation sequencing RNA
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.
124 entries on 2 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000184372
00183404
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184373
00183405
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184374
00183406
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184375
00183407
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184376
00183408
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184377
00183409
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184378
00183410
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184379
00183411
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184380
00183412
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184381
00183413
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184382
00183414
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184383
00183415
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184384
00183416
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184385
00183417
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184386
00183418
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184387
00183419
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184388
00183420
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184389
00183421
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184390
00183422
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184391
00183423
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184392
00183424
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184393
00183425
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184394
00183426
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184395
00183427
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184396
00183428
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184397
00183429
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184398
00183430
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184399
00183431
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184400
00183432
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184401
00183433
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184402
00183434
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184403
00183435
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184404
00183436
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184405
00183437
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184406
00183438
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184407
00183439
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184408
00183440
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184409
00183441
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184410
00183442
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184411
00183443
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184412
00183444
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184413
00183445
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184414
00183446
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184415
00183447
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184416
00183448
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184417
00183449
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184418
00183450
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184419
00183451
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184420
00183452
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184421
00183453
DNA
PCR;SEQ-NG
saliva
PABPN1 PCR
1
Vered Raz
0000184429
00183461
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184430
00183462
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184431
00183463
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184432
00183464
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184433
00183465
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184434
00183466
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184435
00183467
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184436
00183468
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184437
00183469
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184438
00183470
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184439
00183471
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184440
00183472
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184441
00183473
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184442
00183474
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184443
00183475
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184444
00183476
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184445
00183477
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184446
00183478
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184447
00183479
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184448
00183480
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184449
00183481
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184450
00183482
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184451
00183483
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184452
00183484
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184453
00183485
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184454
00183486
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184455
00183487
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184456
00183488
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184457
00183489
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184458
00183490
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184459
00183491
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184460
00183492
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184461
00183493
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184462
00183494
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184463
00183495
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184464
00183496
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184465
00183497
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184466
00183498
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184467
00183499
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184468
00183500
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184469
00183501
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184470
00183502
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184471
00183503
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184472
00183504
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184473
00183505
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184474
00183506
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184475
00183507
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184476
00183508
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184477
00183509
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
0000184478
00183510
DNA
PCR;SEQ
-
-
2
Johan den Dunnen
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