MyGenome LOVD - This database is for training purposes only
ACAP3 (ArfGAP with coiled-coil, ankyrin repeat and ...)
LOVD v.3.0 Build 30 [
Current LOVD status
]
Log in
Curator:
Johan T. den Dunnen
View all genes
View ACAP3 gene homepage
View graphs about the ACAP3 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene ACAP3
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene ACAP3
View all variants in gene ACAP3
Full data view for gene ACAP3
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 ACAP3
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene ACAP3
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene ACAP3
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All screenings
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 = RNA (cDNA).
All options:
DNA
RNA = RNA (cDNA)
Protein
? = unknown
Technique
: Technique(s) used to identify the sequence variant.
All options:
? = Unknown
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)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CSCE = Conformation Sensitive Capillary Electrophoresis
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG = Next-Generation Sequencing
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SEQ = SEQuencing
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting
Tissue
: Tissue type used for the detection of sequence variants.
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.
31 entries on 1 page. Showing entries 1 - 31.
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
Screening ID
Individual ID
Template
Technique
Tissue
Genes screened
Variants found
Owner
0000000047
00000035
DNA
SEQ-NG
-
-
59388
LOVD
0000000049
00000037
DNA
SEQ-NG
-
-
59467
LOVD
0000000050
00000038
DNA
SEQ-NG
-
-
51481
LOVD
0000000051
00000039
DNA
SEQ-NG
-
-
51291
LOVD
0000000052
00000040
DNA
SEQ-NG
-
-
51023
LOVD
0000000053
00000041
DNA
SEQ-NG
-
-
51335
LOVD
0000000054
00000042
DNA
SEQ-NG
-
-
51145
LOVD
0000000055
00000043
DNA
SEQ-NG
-
-
51323
LOVD
0000000056
00000044
DNA
SEQ-NG
-
-
51323
LOVD
0000000057
00000045
DNA
SEQ-NG
-
-
51286
LOVD
0000000058
00000046
DNA
SEQ-NG
-
-
51376
LOVD
0000000059
00000047
DNA
SEQ-NG
-
-
51062
LOVD
0000000060
00000048
DNA
SEQ-NG
-
-
51327
LOVD
0000000061
00000049
DNA
SEQ-NG
-
-
51327
LOVD
0000000062
00000050
DNA
SEQ-NG
-
-
51254
LOVD
0000000063
00000051
DNA
SEQ-NG
-
-
51328
LOVD
0000000064
00000052
DNA
SEQ-NG
-
-
51153
LOVD
0000000065
00000053
DNA
SEQ-NG
-
-
50945
LOVD
0000000066
00000054
DNA
SEQ-NG
-
-
51175
LOVD
0000000067
00000055
DNA
SEQ-NG
-
-
51186
LOVD
0000000068
00000056
DNA
SEQ-NG
-
-
51015
LOVD
0000000069
00000057
DNA
SEQ-NG
-
-
51170
LOVD
0000000070
00000058
DNA
SEQ-NG
-
-
50954
LOVD
0000000071
00000059
DNA
SEQ-NG
-
-
51302
LOVD
0000000072
00000060
DNA
SEQ-NG
-
-
51171
LOVD
0000000073
00000061
DNA
SEQ-NG
-
-
51217
LOVD
0000000074
00000062
DNA
SEQ-NG
-
-
50924
LOVD
0000000075
00000063
DNA
SEQ-NG
-
-
51213
LOVD
0000000076
00000064
DNA
SEQ-NG
-
-
51294
LOVD
0000000077
00000065
DNA
SEQ-NG
-
-
51202
LOVD
0000000078
00000066
DNA
SEQ-NG
-
-
51108
LOVD
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
Powered by
LOVD v.3.0
Build 30
LOVD software ©2004-2024
Leiden University Medical Center