NDDVD - Neurodegenerative Diseases Variation Database
MECP2 (methyl CpG binding protein 2)
LOVD v.3.0 Build 29 [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Y Yang
View all genes
View MECP2 gene homepage
View graphs about the MECP2 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene MECP2
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene MECP2
View all variants in gene MECP2
Full data view for gene MECP2
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 MECP2
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene MECP2
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene MECP2
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All screenings for gene MECP2
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
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.
298 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
Variants found
Owner
0000003946
00003946
?
?
1
Y Yang
0000003947
00003947
?
?
1
Y Yang
0000003948
00003948
?
?
1
Y Yang
0000003949
00003949
?
?
1
Y Yang
0000003950
00003950
?
?
1
Y Yang
0000003951
00003951
?
?
1
Y Yang
0000003952
00003952
?
?
1
Y Yang
0000003953
00003953
?
?
1
Y Yang
0000003954
00003954
?
?
1
Y Yang
0000003955
00003955
?
?
1
Y Yang
0000003956
00003956
?
?
1
Y Yang
0000003957
00003957
?
?
1
Y Yang
0000003958
00003958
?
?
1
Y Yang
0000003959
00003959
?
?
1
Y Yang
0000003960
00003960
?
?
1
Y Yang
0000003961
00003961
?
?
1
Y Yang
0000003962
00003962
?
?
1
Y Yang
0000003963
00003963
?
?
1
Y Yang
0000003964
00003964
?
?
1
Y Yang
0000003965
00003965
?
?
1
Y Yang
0000003966
00003966
?
?
1
Y Yang
0000003967
00003967
?
?
1
Y Yang
0000003968
00003968
?
?
1
Y Yang
0000003969
00003969
?
?
1
Y Yang
0000003970
00003970
?
?
1
Y Yang
0000003971
00003971
?
?
1
Y Yang
0000003972
00003972
?
?
1
Y Yang
0000003973
00003973
?
?
1
Y Yang
0000003974
00003974
?
?
1
Y Yang
0000003975
00003975
?
?
1
Y Yang
0000003976
00003976
?
?
1
Y Yang
0000003977
00003977
?
?
1
Y Yang
0000003978
00003978
?
?
1
Y Yang
0000003979
00003979
?
?
1
Y Yang
0000003980
00003980
?
?
1
Y Yang
0000003981
00003981
?
?
1
Y Yang
0000003982
00003982
?
?
1
Y Yang
0000003983
00003983
?
?
1
Y Yang
0000003984
00003984
?
?
1
Y Yang
0000003985
00003985
?
?
1
Y Yang
0000003986
00003986
?
?
1
Y Yang
0000003987
00003987
?
?
1
Y Yang
0000003988
00003988
?
?
1
Y Yang
0000003989
00003989
?
?
1
Y Yang
0000003990
00003990
?
?
1
Y Yang
0000003991
00003991
?
?
1
Y Yang
0000003992
00003992
?
?
1
Y Yang
0000003993
00003993
?
?
1
Y Yang
0000003994
00003994
?
?
1
Y Yang
0000003995
00003995
?
?
1
Y Yang
0000003996
00003996
?
?
1
Y Yang
0000003997
00003997
?
?
1
Y Yang
0000003998
00003998
?
?
1
Y Yang
0000003999
00003999
?
?
1
Y Yang
0000004000
00004000
?
?
1
Y Yang
0000004001
00004001
?
?
1
Y Yang
0000004002
00004002
?
?
1
Y Yang
0000004003
00004003
?
?
1
Y Yang
0000004004
00004004
?
?
1
Y Yang
0000004005
00004005
?
?
1
Y Yang
0000004006
00004006
?
?
1
Y Yang
0000004007
00004007
?
?
1
Y Yang
0000004008
00004008
?
?
1
Y Yang
0000004009
00004009
?
?
1
Y Yang
0000004010
00004010
?
?
1
Y Yang
0000004011
00004011
?
?
1
Y Yang
0000004012
00004012
?
?
1
Y Yang
0000004013
00004013
?
?
1
Y Yang
0000004014
00004014
?
?
1
Y Yang
0000004015
00004015
?
?
1
Y Yang
0000004016
00004016
?
?
1
Y Yang
0000004017
00004017
?
?
1
Y Yang
0000004018
00004018
?
?
1
Y Yang
0000004019
00004019
?
?
1
Y Yang
0000004020
00004020
?
?
1
Y Yang
0000004021
00004021
?
?
1
Y Yang
0000004022
00004022
?
?
1
Y Yang
0000004023
00004023
?
?
1
Y Yang
0000004024
00004024
?
?
1
Y Yang
0000004025
00004025
?
?
1
Y Yang
0000004026
00004026
?
?
1
Y Yang
0000004027
00004027
?
?
1
Y Yang
0000004028
00004028
?
?
1
Y Yang
0000004029
00004029
?
?
1
Y Yang
0000004030
00004030
?
?
1
Y Yang
0000004031
00004031
?
?
1
Y Yang
0000004032
00004032
?
?
1
Y Yang
0000004033
00004033
?
?
1
Y Yang
0000004034
00004034
?
?
1
Y Yang
0000004035
00004035
?
?
1
Y Yang
0000004036
00004036
?
?
1
Y Yang
0000004037
00004037
?
?
1
Y Yang
0000004038
00004038
?
?
1
Y Yang
0000004039
00004039
?
?
1
Y Yang
0000004040
00004040
?
?
1
Y Yang
0000004041
00004041
?
?
1
Y Yang
0000004042
00004042
?
?
1
Y Yang
0000004043
00004043
?
?
1
Y Yang
0000004044
00004044
?
?
1
Y Yang
0000004045
00004045
?
?
1
Y Yang
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