Global Variome shared LOVD
KAT6B (K(lysine) acetyltransferase 6B)
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Curator:
Philippe Campeau
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All screenings for gene KAT6B
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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.
72 entries on 1 page. Showing entries 1 - 72.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000018467
00018483
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018469
00018485
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018470
00018486
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018472
00018488
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018475
00018491
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018476
00018492
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018477
00018493
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018478
00018494
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018479
00018495
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018480
00018496
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018481
00018497
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018482
00018498
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018483
00018499
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018484
00018500
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018485
00018501
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018486
00018502
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018488
00018504
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018489
00018505
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018490
00018506
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018491
00018507
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018493
00018509
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018496
00018512
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018497
00018513
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018498
00018514
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018499
00018515
DNA
SEQ
-
-
1
Jill Clayton-Smith
0000018500
00018516
DNA
SEQ
-
-
1
Philippe Campeau
0000018501
00018517
DNA
SEQ
-
-
1
Philippe Campeau
0000018502
00018518
DNA
SEQ
-
-
1
Philippe Campeau
0000018503
00018519
DNA
SEQ
-
-
1
Philippe Campeau
0000018504
00018520
DNA
SEQ
-
-
1
Philippe Campeau
0000018505
00018521
DNA
SEQ
-
-
1
Philippe Campeau
0000018506
00018522
DNA
SEQ
-
-
1
Philippe Campeau
0000018507
00018523
DNA
SEQ
-
-
1
Philippe Campeau
0000018508
00018524
DNA
SEQ
-
-
1
Philippe Campeau
0000018509
00018525
DNA
SEQ
-
-
1
Philippe Campeau
0000018510
00018526
DNA
SEQ
-
-
1
Philippe Campeau
0000018511
00018527
DNA
SEQ
-
-
1
Philippe Campeau
0000018512
00018528
DNA
SEQ
-
-
1
Philippe Campeau
0000018513
00018529
DNA
SEQ
-
-
1
Philippe Campeau
0000018514
00018530
DNA
SEQ
-
-
1
Philippe Campeau
0000018515
00018531
DNA
SEQ
-
-
1
Philippe Campeau
0000018516
00018532
DNA
SEQ
-
-
1
Philippe Campeau
0000018517
00018533
DNA
SEQ
-
-
1
Philippe Campeau
0000018518
00018534
DNA
SEQ
-
-
1
Philippe Campeau
0000018519
00018535
DNA
SEQ
-
-
1
Philippe Campeau
0000018520
00018536
DNA
SEQ
-
-
1
Philippe Campeau
0000018521
00018537
DNA
SEQ
-
-
1
Philippe Campeau
0000018522
00018538
DNA
SEQ
-
-
1
Philippe Campeau
0000018523
00018539
DNA
SEQ
-
-
1
Philippe Campeau
0000018524
00018540
DNA
SEQ
-
-
1
Philippe Campeau
0000018525
00018541
DNA
SEQ
-
-
1
Philippe Campeau
0000018526
00018542
DNA
SEQ
-
-
1
Philippe Campeau
0000018527
00018543
DNA
SEQ
-
-
1
Philippe Campeau
0000018528
00018544
DNA
SEQ
-
-
1
Philippe Campeau
0000050452
00050507
DNA
SEQ;SEQ-NG-I
-
-
1
Johan den Dunnen
0000050573
00050628
DNA
SEQ;SEQ-NG-I
-
-
1
Johan den Dunnen
0000050586
00050641
DNA
SEQ;SEQ-NG-I
-
-
1
Johan den Dunnen
0000081105
00080993
DNA
SEQ;SEQ-NG
-
-
1
Daniel Trujillano
0000177883
00176987
DNA
SEQ
-
-
1
Philippe Campeau
0000177884
00176993
DNA
SEQ
-
-
1
Philippe Campeau
0000177885
00176994
DNA
SEQ
-
-
1
Philippe Campeau
0000177997
00177097
DNA
SEQ
-
-
1
Philippe Campeau
0000177998
00177098
DNA
SEQ
-
-
1
Philippe Campeau
0000177999
00177099
DNA
SEQ
-
-
1
Philippe Campeau
0000219421
00218352
DNA
SEQ-NG
blood leukocytes
WES
1
Marisol Delea
0000304129
00303004
DNA
SEQ-NG
-
WES
1
Johan den Dunnen
0000307332
00306198
DNA
SEQ-NG
-
-
1
Sha Hong
0000308888
00307748
DNA
SEQ;SEQ-NG
-
565 gene panel
1
Johan den Dunnen
0000308889
00307749
DNA
SEQ;SEQ-NG
-
565 gene panel
1
Johan den Dunnen
0000316189
00315013
DNA
SEQ;SEQ-NG
-
68-gene panel
1
Johan den Dunnen
0000316190
00315014
DNA
SEQ;SEQ-NG
-
68-gene panel
1
Johan den Dunnen
0000316219
00315043
DNA
SEQ;SEQ-NG
-
68-gene panel
1
Johan den Dunnen
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