MyGenome LOVD - This database is for training purposes only
HERC2 (HECT and RLD domain containing E3 ubiquitin ...)
LOVD v.3.0 Build 30 [
Current LOVD status
]
Log in
Curator:
Johan T. den Dunnen
View all genes
View HERC2 gene homepage
View graphs about the HERC2 gene database
Create a new gene entry
View all transcripts
View all transcripts of gene HERC2
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene HERC2
View all variants in gene HERC2
Full data view for gene HERC2
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 HERC2
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene HERC2
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene HERC2
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
All transcripts
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.
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.
50281 entries on 503 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
How to query
« First
Prev
1
2
3
4
5
6
7
8
9
10
11
...
Next
Last »
ID
Chr
Gene ID
Name
NCBI ID
NCBI Protein ID
Variants
00024719
19
A1BG
alpha-1-B glycoprotein
NM_130786.3
NP_570602.2
150
00000001
10
A1CF
transcript variant 6
NM_001198820.1
NP_001185749.1
59
00015445
10
A1CF
Manually created transcript. (removed from reference sequence)
NM_001198818.1
-
59
00015446
10
A1CF
Manually created transcript. (removed from reference sequence)
NM_001198819.1
-
59
00015447
10
A1CF
Manually created transcript. (removed from reference sequence)
NM_014576.3
-
59
00015448
10
A1CF
Manually created transcript. (removed from reference sequence)
NM_138932.2
-
59
00015449
10
A1CF
Manually created transcript. (removed from reference sequence)
NM_138933.2
-
59
00000002
12
A2M
alpha-2-macroglobulin
NM_000014.4
NP_000005.2
214
00031648
12
A2M
Manually created transcript (removed from reference sequence)
NR_026971.1
-
-
00000003
12
A2ML1
transcript variant 1
NM_144670.4
NP_653271.2
316
00034995
12
A2ML1
transcript variant 2
NR_046256.1
-
-
00034996
12
A2ML1
transcript variant X1
XM_005253321.1
XP_005253378.1
-
00050400
1
A3GALT2
alpha 1,3-galactosyltransferase 2
NM_001080438.1
NP_001073907.1
38
00009767
22
A4GALT
alpha 1,4-galactosyltransferase
NM_017436.4
NP_059132.1
65
00042650
22
A4GALT
transcript variant X2
XM_005261644.1
XP_005261701.1
-
00042651
22
A4GALT
transcript variant X5
XM_005261647.1
XP_005261704.1
-
00042652
22
A4GALT
transcript variant X1
XM_005261643.1
XP_005261700.1
-
00042653
22
A4GALT
transcript variant X6
XM_005261648.1
XP_005261705.1
-
00024720
3
A4GNT
alpha-1,4-N-acetylglucosaminyltransferase
NM_016161.2
NP_057245.1
112
00029036
12
AAAS
Manually created transcript
NM_001173466.1
-
165
00029116
12
AAAS
Manually created transcript
NM_015665.5
-
165
00000004
12
AACS
acetoacetyl-CoA synthetase
NM_023928.3
NP_076417.2
114
00035758
12
AACS
transcript variant X3
XM_005253611.1
XP_005253668.1
-
00035759
12
AACS
transcript variant X1
XM_005253609.1
XP_005253666.1
-
00035760
12
AACS
transcript variant X2
XM_005253610.1
XP_005253667.1
-
00045402
5
AACSP1
acetoacetyl-CoA synthetase pseudogene 1
NR_024035.1
-
-
00000005
3
AADAC
arylacetamide deacetylase
NM_001086.2
NP_001077.2
190
00009768
3
AADACL2
arylacetamide deacetylase-like 2
NM_207365.3
NP_997248.2
34
00024721
1
AADACL3
transcript variant 1
NM_001103170.1
NP_001096640.1
158
00024722
1
AADACL3
transcript variant 2
NM_001103169.1
NP_001096639.1
95
00009769
1
AADACL4
arylacetamide deacetylase-like 4
NM_001013630.1
NP_001013652.1
20
00009770
4
AADAT
transcript variant 2
NM_182662.1
NP_872603.1
55
00009771
4
AADAT
transcript variant 1
NM_016228.3
NP_057312.1
55
00009772
9
AAED1
AhpC/TSA antioxidant enzyme domain containing 1
NM_153698.1
NP_714542.1
35
00049938
9
AAED1
transcript variant X1
XM_005251783.2
XP_005251840.1
-
00049939
9
AAED1
transcript variant X2
XM_005251784.2
XP_005251841.1
-
00024723
15
AAGAB
transcript variant 1
NM_024666.4
NP_078942.3
68
00049034
15
AAGAB
transcript variant 3
NM_001271886.1
NP_001258815.1
68
00049035
15
AAGAB
transcript variant 2
NM_001271885.1
NP_001258814.1
68
00000006
2
AAK1
AP2 associated kinase 1
NM_014911.3
NP_055726.3
141
00040694
2
AAK1
transcript variant X1
XM_005264206.1
-
-
00040695
2
AAK1
transcript variant X7
XM_005264212.1
XP_005264269.1
-
00040696
2
AAK1
transcript variant X3
XM_005264208.1
XP_005264265.1
-
00040697
2
AAK1
transcript variant X2
XM_005264207.1
-
-
00040698
2
AAK1
transcript variant X8
XM_005264213.1
XP_005264270.1
-
00040699
2
AAK1
transcript variant X4
XM_005264209.1
XP_005264266.1
-
00040700
2
AAK1
transcript variant X5
XM_005264210.1
XP_005264267.1
-
00040701
2
AAK1
transcript variant X6
XM_005264211.1
XP_005264268.1
-
00024724
11
AAMDC
adipogenesis associated, Mth938 domain containing
NM_024684.2
NP_078960.1
69
00024725
2
AAMP
angio-associated, migratory cell protein
NM_001087.3
NP_001078.2
87
00020634
17
AANAT
transcript variant 1
NM_001166579.1
NP_001160051.1
58
00027515
17
AANAT
Manually created transcript
NM_001088.2
-
57
00024726
20
AAR2
transcript variant 1
NM_015511.4
NP_056326.2
38
00050636
20
AAR2
AAR2 splicing factor homolog, transcript variant 2
NM_001271874.1
NP_001258803.1
37
00028161
8
AARD
alanine and arginine rich domain containing protein
NM_001025357.2
NP_001020528.1
37
00020635
16
AARS
alanyl-tRNA synthetase
NM_001605.2
NP_001596.2
99
00009773
6
AARS2
alanyl-tRNA synthetase 2, mitochondrial
NM_020745.3
NP_065796.1
311
00045835
6
AARS2
transcript variant X1
XM_005249245.1
XP_005249302.1
-
00009774
17
AARSD1
alanyl-tRNA synthetase domain containing 1
NM_001261434.1
NP_001248363.1
220
00015450
4
AASDH
Manually created transcript. (expired, new version available)
NM_181806.2
-
200
00044238
4
AASDH
transcript variant X1
XM_005265721.1
XP_005265778.1
-
00044239
4
AASDH
transcript variant X7
XM_005265727.1
XP_005265784.1
-
00044240
4
AASDH
transcript variant X6
XM_005265726.2
XP_005265783.1
-
00044241
4
AASDH
transcript variant X4
XM_005265724.2
XP_005265781.1
-
00009775
11
AASDHPPT
aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase
NM_015423.2
NP_056238.2
4
00000007
7
AASS
aminoadipate-semialdehyde synthase
NM_005763.3
NP_005754.2
8
00009776
17
AATF
apoptosis antagonizing transcription factor
NM_012138.3
NP_036270.1
29
00000008
17
AATK
transcript variant 2
NM_004920.2
NP_004911.2
285
00015451
17
AATK
Manually created transcript. (removed from reference sequence)
NM_001080395.2
-
239
00038998
17
AATK
transcript variant X5
XM_005257851.1
XP_005257908.1
-
00038999
17
AATK
transcript variant X9
XM_005257855.1
XP_005257912.1
-
00039000
17
AATK
transcript variant X1
XM_005257847.1
XP_005257904.1
-
00039001
17
AATK
transcript variant X7
XM_005257853.1
XP_005257910.1
-
00039002
17
AATK
transcript variant X4
XM_005257850.1
XP_005257907.1
-
00039003
17
AATK
transcript variant X8
XM_005257854.1
XP_005257911.1
-
00039004
17
AATK
transcript variant X2
XM_005257848.1
XP_005257905.1
-
00039005
17
AATK
transcript variant X6
XM_005257852.1
XP_005257909.1
-
00039006
17
AATK
transcript variant X3
XM_005257849.1
XP_005257906.1
-
00039007
17
AATK
transcript variant X11
XM_005257857.1
XP_005257914.1
-
00039008
17
AATK
transcript variant X10
XM_005257856.1
XP_005257913.1
-
00009777
16
ABAT
transcript variant 1
NM_020686.5
NP_065737.2
160
00009778
16
ABAT
transcript variant 2
NM_000663.4
NP_000654.2
160
00009779
16
ABAT
transcript variant 3
NM_001127448.1
NP_001120920.1
160
00037536
16
ABAT
transcript variant X1
XM_005255154.1
XP_005255211.1
-
00000009
9
ABCA1
ATP-binding cassette, sub-family A (ABC1), member 1
NM_005502.3
NP_005493.2
321
00000010
17
ABCA10
ATP-binding cassette, sub-family A (ABC1), member 10
NM_080282.3
NP_525021.3
343
00038856
17
ABCA10
transcript variant X1
XM_005256933.1
XP_005256990.1
-
00043962
4
ABCA11P
ATP-binding cassette, sub-family A (ABC1), member 11, pseudogene
NR_002451.2
-
-
00000011
2
ABCA12
transcript variant 1
NM_173076.2
NP_775099.2
362
00000012
2
ABCA12
transcript variant 2
NM_015657.3
NP_056472.2
295
00000013
7
ABCA13
ATP-binding cassette, sub-family A (ABC1), member 13
NM_152701.3
NP_689914.2
677
00037467
16
ABCA17P
ATP-binding cassette, sub-family A (ABC1), member 17, pseudogene
NR_003574.1
-
-
00000014
9
ABCA2
transcript variant 1
NM_001606.4
NP_001597.2
443
00000015
9
ABCA2
transcript variant 2
NM_212533.2
NP_997698.1
443
00009780
16
ABCA3
ATP-binding cassette, sub-family A (ABC1), member 3
NM_001089.2
NP_001080.2
204
00000016
1
ABCA4
ATP-binding cassette, sub-family A (ABC1), member 4
NM_000350.2
NP_000341.2
384
00000017
17
ABCA5
transcript variant 2
NM_172232.2
NP_758424.1
185
00015452
17
ABCA5
Manually created transcript. (removed from reference sequence)
NM_018672.3
-
185
00000018
17
ABCA6
ATP-binding cassette, sub-family A (ABC1), member 6
NM_080284.2
NP_525023.2
244
00000019
19
ABCA7
ATP-binding cassette, sub-family A (ABC1), member 7
NM_019112.3
NP_061985.2
859
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
How to query
« First
Prev
1
2
3
4
5
6
7
8
9
10
11
...
Next
Last »
Powered by
LOVD v.3.0
Build 30
LOVD software ©2004-2024
Leiden University Medical Center