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Results for "CUL3"

Variant Events: 42

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
CUL3     AU056804chr2:
225604972-225604972
CTintergenicDe novo--Yuen2017 G
CUL3     Mahjani2021:22chr2:
225371576-225371576
TCexonicnonsynonymous SNVNM_001257197
NM_001257198
NM_003590
c.A830G
c.A1046G
c.A1028G
p.Q277R
p.Q349R
p.Q343R
28.4-Mahjani2021 E
CUL3     M30853chr2:
225376128-225376128
TCexonicMaternalnonsynonymous SNVNM_001257197
NM_001257198
NM_003590
c.A628G
c.A844G
c.A826G
p.I210V
p.I282V
p.I276V
16.99-Guo2018 T
CUL3     Uddin2014:54chr2:
225376218-225376218
CAexonicDe novostopgainNM_001257197
NM_001257198
NM_003590
c.G538T
c.G754T
c.G736T
p.E180X
p.E252X
p.E246X
40.0-Uddin2014 E
CUL3     GX0260.p1chr2:
225346756-225346756
CTexonicMaternalnonsynonymous SNVNM_001257197
NM_001257198
NM_003590
c.G1684A
c.G1900A
c.G1882A
p.V562I
p.V634I
p.V628I
17.54-Guo2018 T
CUL3     AU076508chr2:
225358786-225358786
TAintronicDe novo--Yuen2017 G
CUL3     GX0166.p1chr2:
225422384-225422384
TCexonicMaternalnonsynonymous SNVNM_001257198
NM_003590
c.A274G
c.A256G
p.I92V
p.I86V
12.6-Guo2018 T
CUL3     11452.p1chr2:
225376218-225376218
CAexonicDe novostopgainNM_001257197
NM_001257198
NM_003590
c.G538T
c.G754T
c.G736T
p.E180X
p.E252X
p.E246X
40.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
CUL3     AU3889305chr2:
225510712-225510712
CGintergenicDe novo--Yuen2017 G
CUL3     14303.p1chr2:
225338439-225338439
CTUTR3De novo--Wilfert2021 G
CUL3     2-1308-003chr2:
225369759-225369759
TCintronicDe novo--Yuen2016 G
Yuen2017 G
CUL3     F1389-1chr2:
225378299-225378299
GCexonicDe novostopgainNM_001257197
NM_001257198
NM_003590
c.C398G
c.C614G
c.C596G
p.S133X
p.S205X
p.S199X
38.0-Montenegro2019 E
CUL3     1-0627-004chr2:
225490707-225490707
CTintergenicDe novo--Yuen2017 G
CUL3     M03563chr2:
225370672-225370672
CAsplicingDe novosplicing23.5-Guo2018 T
Stessman2017 T
Wang2016 T
Wang2020 T
Wang2020 T
CUL3     DEASD_1027_001chr2:
225422450-225422450
TCexonicDe novononsynonymous SNVNM_001257198
NM_003590
c.A208G
c.A190G
p.M70V
p.M64V
19.95-Satterstrom2020 E
CUL3     2-0300-004chr2:
225349239-225349244
CCTAGTCintronicDe novo--Yuen2017 G
CUL3     AU3760302chr2:
225412345-225412345
AGintronicDe novo--Yuen2017 G
CUL3     2-1247-003chr2:
225378301-225378305
TCTTCTexonicDe novoframeshift deletionNM_001257197
NM_001257198
NM_003590
c.392_395del
c.608_611del
c.590_593del
p.G131fs
p.G203fs
p.G197fs
--Wang2020 T
CUL3     AU045512chr2:
225564254-225564254
ACintergenicDe novo--Yuen2017 G
CUL3     19275-30820chr2:
225422467-225422467
TCexonicnonsynonymous SNVNM_001257198
NM_003590
c.A191G
c.A173G
p.Y64C
p.Y58C
20.2-Callaghan2019 G
CUL3     03C16170chr2:
225376215-225376215
GAexonicInherited, UnknownstopgainNM_001257197
NM_001257198
NM_003590
c.C541T
c.C757T
c.C739T
p.R181X
p.R253X
p.R247X
40.0-Stessman2017 T
Wang2020 T
Wang2020 T
CUL3     iHART3225chr2:
225370851-225370851
TCsplicingPaternalsplicing20.6-Ruzzo2019 G
CUL3     Lim2017:5412chr2:
225376218-225376218
CAexonicDe novostopgainNM_001257197
NM_001257198
NM_003590
c.G538T
c.G754T
c.G736T
p.E180X
p.E252X
p.E246X
40.0-Lim2017 E
CUL3     1-0485-003chr2:
225538383-225538388
AACACAAACAintergenicDe novo--Yuen2017 G
CUL3     64498769chr2:
225346626-225346628
CTGCexonicUnknownframeshift deletionNM_001257197
NM_001257198
NM_003590
c.1812_1813del
c.2028_2029del
c.2010_2011del
p.H604fs
p.H676fs
p.H670fs
--Wang2020 T
Wang2020 T
CUL3     376433chr2:
225379411-225379411
GAexonicUnknownnonsynonymous SNVNM_001257197
NM_001257198
NM_003590
c.C259T
c.C475T
c.C457T
p.R87C
p.R159C
p.R153C
23.1-Stessman2017 T
Wang2020 T
Wang2020 T
Wang2020 T
CUL3     1-0354-006chr2:
225419040-225419044
TAAAGTintronicDe novo--Yuen2017 G
CUL3     211-5511-3 Complex Event; expand row to view variants  De novoframeshift deletionNM_001257197
NM_001257198
NM_003590
c.392_395del
c.608_611del
c.590_593del
p.G131fs
p.G203fs
p.G197fs
--Stessman2017 T
Stessman2017 T
Wang2020 T
Wang2020 T
CUL3     SF0121865.p1chr2:
225365137-225365141
GCTGAGexonicDe novoframeshift deletionNM_001257197
NM_001257198
NM_003590
c.1351_1354del
c.1567_1570del
c.1549_1552del
p.S451fs
p.S523fs
p.S517fs
--Wang2020 T
CUL3     AU4153301chr2:
225342581-225342581
TCintronicDe novo--Yuen2017 G
CUL3     GX0263.p1chr2:
225346695-225346695
GAexonicDe novononsynonymous SNVNM_001257197
NM_001257198
NM_003590
c.C1745T
c.C1961T
c.C1943T
p.P582L
p.P654L
p.P648L
33.0-Guo2018 T
Wang2020 T
Wang2020 T
CUL3     Codina-Sola2015:ASD_7chr2:
225342936-225342936
TCexonicDe novononsynonymous SNVNM_001257197
NM_001257198
NM_003590
c.A1958G
c.A2174G
c.A2156G
p.H653R
p.H725R
p.H719R
27.68.241E-6Codina-Sola2015 E
CUL3     2-1459-003chr2:
225590471-225590471
AGintergenicDe novo--Yuen2017 G
CUL3     AU2950301chr2:
225474504-225474504
TCintergenicDe novo--Yuen2017 G
CUL3     1-0935-003chr2:
225444403-225444407
ACTCTACTintronicDe novo--Yuen2017 G
CUL3     GD0215.p1chr2:
225360607-225360607
GAexonicUnknownnonsynonymous SNVNM_001257197
NM_001257198
NM_003590
c.C1586T
c.C1802T
c.C1784T
p.S529F
p.S601F
p.S595F
18.74-Wang2020 T
Wang2020 T
CUL3     2-1140-003chr2:
225625967-225625967
ACintergenicDe novo--Yuen2017 G
CUL3     SF0081497.p1chr2:
225370763-225370764
ACAexonicDe novoframeshift deletionNM_001257197
NM_001257198
NM_003590
c.917delG
c.1133delG
c.1115delG
p.G306fs
p.G378fs
p.G372fs
--Wang2020 T
CUL3     2-1140-003chr2:
225590587-225590587
GCintergenicDe novo--Yuen2017 G
CUL3     SF0038503.p1chr2:
225370672-225370672
CAsplicingDe novosplicing23.5-Wang2020 T
CUL3     SF0039888.p1chr2:
225379431-225379435
ATAATAexonicDe novoframeshift deletionNM_001257197
NM_001257198
NM_003590
c.235_238del
c.451_454del
c.433_436del
p.I79fs
p.I151fs
p.I145fs
--Wang2020 T
CUL3     SF0072007.p1chr2:
225378353-225378355
CCTCexonicDe novoframeshift deletionNM_001257197
NM_001257198
NM_003590
c.342_343del
c.558_559del
c.540_541del
p.R114fs
p.R186fs
p.R180fs
--Wang2020 T
Source Variant Information

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Source:

Paper alias:

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Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
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