Global Variome shared LOVD
PAX2 (paired box 2)
LOVD v.3.0 Build 29 [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Matthew Bower
View all genes
View PAX2 gene homepage
View graphs about the PAX2 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene PAX2
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene PAX2
View all variants in gene PAX2
Full data view for gene PAX2
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene PAX2
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene PAX2
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene PAX2
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All screenings for gene PAX2
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-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
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
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.
271 entries on 3 pages. Showing entries 1 - 100.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
3
Next
Last »
Screening ID
Individual ID
Template
Technique
Tissue
Remarks
Variants found
Owner
0000050514
00050569
DNA
SEQ;SEQ-NG-I
-
-
1
Johan den Dunnen
0000133815
00132981
DNA
SEQ
-
WES
1
Johan den Dunnen
0000133816
00132982
DNA
SEQ
-
WES
1
Johan den Dunnen
0000316230
00315054
DNA
SEQ
-
-
1
Matthew Bower
0000316231
00315055
DNA
SEQ
-
-
1
Matthew Bower
0000316232
00315056
DNA
SEQ
-
-
1
Matthew Bower
0000316233
00315057
DNA
SEQ
-
-
1
Matthew Bower
0000316234
00315058
DNA
SEQ
-
-
1
Matthew Bower
0000316235
00315059
DNA
SEQ
-
-
1
Matthew Bower
0000316236
00315060
DNA
SEQ
-
-
1
Matthew Bower
0000316237
00315061
DNA
SEQ
-
-
1
Matthew Bower
0000316238
00315062
DNA
SEQ
-
-
1
Matthew Bower
0000316239
00315063
DNA
SEQ
-
-
1
Matthew Bower
0000316240
00315064
DNA
SEQ
-
-
1
Matthew Bower
0000316241
00315065
DNA
SEQ
-
-
1
Matthew Bower
0000316242
00315066
DNA
SEQ
-
-
1
Matthew Bower
0000316243
00315067
DNA
SEQ
-
-
1
Matthew Bower
0000316244
00315068
DNA
SEQ
-
-
1
Matthew Bower
0000316245
00315069
DNA
SEQ
-
-
1
Matthew Bower
0000316246
00315070
DNA
SEQ
-
-
1
Matthew Bower
0000316247
00315071
DNA
SEQ
-
-
1
Matthew Bower
0000316248
00315072
DNA
SEQ
-
-
1
Matthew Bower
0000316249
00315073
DNA
SEQ
-
-
1
Matthew Bower
0000316250
00315074
DNA
SEQ
-
-
1
Matthew Bower
0000316251
00315075
DNA
SEQ
-
-
1
Matthew Bower
0000316252
00315076
DNA
SEQ
-
-
1
Matthew Bower
0000316253
00315077
DNA
SEQ
-
-
1
Matthew Bower
0000316254
00315078
DNA
SEQ
-
-
1
Matthew Bower
0000316255
00315079
DNA
SEQ
-
-
1
Matthew Bower
0000316256
00315080
DNA
SEQ
-
-
1
Matthew Bower
0000316257
00315081
DNA
SEQ
-
-
1
Matthew Bower
0000316258
00315082
DNA
SEQ
-
-
1
Matthew Bower
0000316259
00315083
DNA
SEQ
-
-
1
Matthew Bower
0000316260
00315084
DNA
SEQ
-
-
1
Matthew Bower
0000316261
00315085
DNA
SEQ
-
-
1
Matthew Bower
0000316262
00315086
DNA
SEQ
-
-
1
Matthew Bower
0000316263
00315087
DNA
SEQ
-
-
1
Matthew Bower
0000316264
00315088
DNA
SEQ
-
-
1
Matthew Bower
0000316265
00315089
DNA
SEQ
-
-
1
Matthew Bower
0000316266
00315090
DNA
SEQ
-
-
1
Matthew Bower
0000316267
00315091
DNA
SEQ
-
-
1
Matthew Bower
0000316268
00315092
DNA
SEQ
-
-
1
Matthew Bower
0000316269
00315093
DNA
SEQ
-
-
1
Matthew Bower
0000316270
00315094
DNA
SEQ
-
-
1
Matthew Bower
0000316271
00315095
DNA
SEQ
-
-
1
Matthew Bower
0000316272
00315096
DNA
SEQ
-
-
1
Matthew Bower
0000316273
00315097
DNA
SEQ
-
-
1
Matthew Bower
0000316274
00315098
DNA
SEQ
-
-
1
Matthew Bower
0000316275
00315099
DNA
SEQ
-
-
1
Matthew Bower
0000316276
00315100
DNA
SEQ
-
-
1
Matthew Bower
0000316277
00315101
DNA
SEQ
-
-
1
Matthew Bower
0000316278
00315102
DNA
SEQ
-
-
1
Matthew Bower
0000316279
00315103
DNA
SEQ
-
-
1
Matthew Bower
0000316280
00315104
DNA
SEQ
-
-
1
Matthew Bower
0000316281
00315105
DNA
SEQ
-
-
1
Matthew Bower
0000316282
00315106
DNA
SEQ
-
-
1
Matthew Bower
0000316283
00315107
DNA
SEQ
-
-
1
Matthew Bower
0000316284
00315108
DNA
SEQ
-
-
1
Matthew Bower
0000316285
00315109
DNA
SEQ
-
-
1
Matthew Bower
0000316286
00315110
DNA
SEQ
-
-
1
Matthew Bower
0000316287
00315111
DNA
SEQ
-
-
1
Matthew Bower
0000316288
00315112
DNA
SEQ
-
-
1
Matthew Bower
0000316289
00315113
DNA
SEQ
-
-
1
Matthew Bower
0000316290
00315114
DNA
SEQ
-
-
1
Matthew Bower
0000316291
00315115
DNA
SEQ
-
-
1
Matthew Bower
0000316292
00315116
DNA
SEQ
-
-
1
Matthew Bower
0000316293
00315117
DNA
SEQ
-
-
1
Matthew Bower
0000316294
00315118
DNA
SEQ
-
-
1
Matthew Bower
0000316295
00315119
DNA
SEQ
-
-
1
Matthew Bower
0000316296
00315120
DNA
SEQ
-
-
1
Matthew Bower
0000316297
00315121
DNA
SEQ
-
-
1
Matthew Bower
0000316298
00315122
DNA
SEQ
-
-
1
Matthew Bower
0000316299
00315123
DNA
SEQ
-
-
1
Matthew Bower
0000316300
00315124
DNA
SEQ
-
-
1
Matthew Bower
0000316301
00315125
DNA
SEQ
-
-
1
Matthew Bower
0000316302
00315126
DNA
SEQ
-
-
1
Matthew Bower
0000316303
00315127
DNA
SEQ
-
-
1
Matthew Bower
0000316304
00315128
DNA
SEQ
-
-
1
Matthew Bower
0000316305
00315129
DNA
SEQ
-
-
1
Matthew Bower
0000316306
00315130
DNA
SEQ
-
-
1
Matthew Bower
0000316307
00315131
DNA
SEQ
-
-
1
Matthew Bower
0000316308
00315132
DNA
SEQ
-
-
1
Matthew Bower
0000316309
00315133
DNA
SEQ
-
-
1
Matthew Bower
0000316310
00315134
DNA
SEQ
-
-
1
Matthew Bower
0000316311
00315135
DNA
SEQ
-
-
1
Matthew Bower
0000316312
00315136
DNA
SEQ
-
-
1
Matthew Bower
0000316313
00315137
DNA
SEQ
-
-
1
Matthew Bower
0000316314
00315138
DNA
SEQ
-
-
1
Matthew Bower
0000316315
00315139
DNA
SEQ
-
-
1
Matthew Bower
0000316316
00315140
DNA
SEQ
-
-
1
Matthew Bower
0000316317
00315141
DNA
SEQ
-
-
1
Matthew Bower
0000316318
00315142
DNA
SEQ
-
-
1
Matthew Bower
0000316319
00315143
DNA
SEQ
-
-
1
Matthew Bower
0000316320
00315144
DNA
SEQ
-
-
1
Matthew Bower
0000316321
00315145
DNA
SEQ
-
-
1
Matthew Bower
0000316322
00315146
DNA
SEQ
-
-
1
Matthew Bower
0000316323
00315147
DNA
SEQ
-
-
1
Matthew Bower
0000316324
00315148
DNA
SEQ
-
-
1
Matthew Bower
0000316325
00315149
DNA
SEQ
-
-
1
Matthew Bower
0000316326
00315150
DNA
SEQ
-
-
1
Matthew Bower
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
« First
Prev
1
2
3
Next
Last »
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center