Global Variome shared LOVD
NIPBL (Nipped-B homolog (Drosophila))
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Curator:
Jorge Oliveira
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View all diseases associated with gene NIPBL
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All screenings for gene NIPBL
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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-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'
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363 entries on 4 pages. Showing entries 1 - 100.
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Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000050450
00050505
DNA
SEQ;SEQ-NG-I
-
-
1
Johan den Dunnen
0000102534
00102083
DNA
SEQ-NG-I
blood
-
1
Wenjuan Qiu
0000180455
00179552
DNA
SEQ
-
-
1
Cristina Dias
0000180456
00179553
DNA
SEQ
-
-
1
Cristina Dias
0000180457
00179554
DNA
SEQ
-
-
1
Cristina Dias
0000180458
00179555
DNA
SEQ
-
-
1
Cristina Dias
0000180459
00179556
DNA
SEQ
-
-
1
Cristina Dias
0000180460
00179557
DNA
SEQ
-
-
1
Cristina Dias
0000180461
00179558
DNA
SEQ
-
-
1
Cristina Dias
0000180462
00179559
DNA
SEQ
-
-
1
Cristina Dias
0000180463
00179560
DNA
SEQ
-
-
1
Cristina Dias
0000180464
00179561
DNA
SEQ
-
-
1
Cristina Dias
0000180465
00179562
DNA
SEQ
-
-
1
Cristina Dias
0000180466
00179563
DNA
SEQ
-
-
1
Cristina Dias
0000180467
00179564
DNA
SEQ
-
-
1
Cristina Dias
0000180468
00179565
DNA
DHPLC;SEQ
-
-
1
Cristina Dias
0000180469
00179566
DNA
DHPLC;SEQ
-
-
1
Cristina Dias
0000180470
00179567
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180471
00179568
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180472
00179569
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180473
00179570
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180474
00179571
DNA
SEQ
-
-
1
Cristina Dias
0000180475
00179572
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180476
00179573
DNA
SEQ
-
-
1
Cristina Dias
0000180477
00179574
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180478
00179575
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180479
00179576
DNA
SEQ
-
-
1
Cristina Dias
0000180480
00179577
DNA
SEQ
-
-
1
Cristina Dias
0000180481
00179578
DNA
SEQ
-
-
1
Cristina Dias
0000180482
00179579
DNA;RNA
SEQ;RT-PCR
-
-
1
Cristina Dias
0000180483
00179580
DNA
SEQ
-
-
1
Cristina Dias
0000180484
00179581
DNA
SEQ
-
-
1
Cristina Dias
0000180485
00179582
DNA
SEQ
-
-
1
Cristina Dias
0000180486
00179583
DNA;RNA
RT-PCR;SEQ
-
-
1
Cristina Dias
0000180487
00179584
DNA
SEQ
-
-
1
Cristina Dias
0000180488
00179585
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180489
00179586
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180490
00179587
DNA
SEQ
-
-
1
Cristina Dias
0000180491
00179588
DNA
SEQ
-
-
1
Cristina Dias
0000180492
00179589
DNA
SEQ
-
-
1
Cristina Dias
0000180493
00179590
DNA
SEQ
-
-
1
Cristina Dias
0000180494
00179591
DNA
SEQ
-
-
1
Cristina Dias
0000180495
00179592
DNA
DHPLC;SEQ
-
-
1
Cristina Dias
0000180496
00179593
DNA
DHPLC;SEQ
-
-
1
Cristina Dias
0000180497
00179594
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180498
00179595
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180499
00179596
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180500
00179597
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180501
00179598
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180502
00179599
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180503
00179600
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180504
00179601
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180505
00179602
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180506
00179603
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180507
00179604
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180508
00179605
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180509
00179606
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180510
00179607
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180511
00179608
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180512
00179609
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180513
00179610
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180514
00179611
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180515
00179612
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180516
00179613
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180517
00179614
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180518
00179615
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180519
00179616
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180520
00179617
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180521
00179618
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180522
00179619
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180523
00179620
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180524
00179621
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180525
00179622
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180526
00179623
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180527
00179624
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180528
00179625
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180529
00179626
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180530
00179627
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180531
00179628
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180532
00179629
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180533
00179630
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180534
00179631
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180535
00179632
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180536
00179633
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180537
00179634
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180538
00179635
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180539
00179636
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180540
00179637
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180541
00179638
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180542
00179639
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180543
00179640
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180544
00179641
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180545
00179642
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180546
00179643
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180547
00179644
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180548
00179645
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180549
00179646
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180550
00179647
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180551
00179648
DNA
CSGE;SEQ
-
-
1
Cristina Dias
0000180552
00179649
DNA
CSGE;SEQ
-
-
1
Cristina Dias
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