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Results for "CUL3"

Variant Events: 73

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     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     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
Zhou2022 GE
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--Trost2022 G
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 novo, UnknownstopgainNM_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
Zhou2022 GE
CUL3     2-1308-003chr2:
225369759-225369759
TCintronicDe novo--Trost2022 G
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     SP0187409chr2:
225365140-225365140
GCexonicstopgainNM_001257197
NM_001257198
NM_003590
c.C1352G
c.C1568G
c.C1550G
p.S451X
p.S523X
p.S517X
43.0-Zhou2022 GE
CUL3     SP0350881chr2:
225362516-225362516
AGexonicnonsynonymous SNVNM_001257197
NM_001257198
NM_003590
c.T1463C
c.T1679C
c.T1661C
p.M488T
p.M560T
p.M554T
19.04-Zhou2022 GE
CUL3     AU3760302chr2:
225412345-225412345
AGintronicDe novo--Trost2022 G
Yuen2017 G
CUL3     SP0352547chr2:
225338988-225338988
GAexonicnonsynonymous SNVNM_001257197
NM_001257198
NM_003590
c.C2083T
c.C2299T
c.C2281T
p.R695C
p.R767C
p.R761C
17.588.244E-6Zhou2022 GE
CUL3     AGRE_03C16170chr2:
225376215-225376215
GAexonicUnknownstopgainNM_001257197
NM_001257198
NM_003590
c.C541T
c.C757T
c.C739T
p.R181X
p.R253X
p.R247X
40.0-Wang2020 T
CUL3     3-0842-000chr2:
225367724-225367724
GAexonicDe novosynonymous SNVNM_001257197
NM_001257198
NM_003590
c.C1245T
c.C1461T
c.C1443T
p.N415N
p.N487N
p.N481N
--Trost2022 G
Zhou2022 GE
CUL3     Leuven2_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
CUL3     SP0038503chr2:
225370672-225370672
CAsplicingsplicing23.5-Zhou2022 GE
CUL3     5-5046-004chr2:
225441165-225441168
TCTATintronicDe novo--Trost2022 G
CUL3     MSSNG00008-004chr2:
225444473-225444473
GAintronicDe novo--Trost2022 G
CUL3     2-1076-004chr2:
225422251-225422251
GAintronicDe novo--Trost2022 G
CUL3     AU045512chr2:
225564254-225564254
ACintergenicDe novo--Yuen2017 G
CUL3     2-0112-005chr2:
225440218-225440218
TCintronicDe novo--Trost2022 G
CUL3     MSSNG00340-003chr2:
225376373-225376373
AGintronicDe novo--Trost2022 G
CUL3     03C16170chr2:
225376215-225376215
GAexonicInheritedstopgainNM_001257197
NM_001257198
NM_003590
c.C541T
c.C757T
c.C739T
p.R181X
p.R253X
p.R247X
40.0-Stessman2017 T
CUL3     4-0062-003chr2:
225386114-225386115
AATTintronicDe novo--Trost2022 G
CUL3     REACH000762chr2:
225340190-225340190
TGintronicDe novo--Trost2022 G
CUL3     iHART3225chr2:
225370851-225370851
TCsplicingPaternalsplicing20.6-Ruzzo2019 G
CUL3     1-1049-003chr2:
225371555-225371555
AGintronicDe novo-8.32E-6Trost2022 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     1-0354-006chr2:
225419040-225419044
TAAAGTintronicDe novo--Trost2022 G
Yuen2017 G
CUL3     REACH000150chr2:
225448638-225448638
AGintronicDe novo--Trost2022 G
CUL3     SP0072007chr2:
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
--Antaki2022 GE
Fu2022 E
Zhou2022 GE
CUL3     SSC02255chr2:
225376218-225376218
CAexonicstopgainNM_001257197
NM_001257198
NM_003590
c.G538T
c.G754T
c.G736T
p.E180X
p.E252X
p.E246X
40.0-Antaki2022 GE
CUL3     AU4153301chr2:
225342581-225342581
TCintronicDe novo--Trost2022 G
Yuen2017 G
CUL3     SP0039888chr2:
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
--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
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     SP0081497chr2:
225370763-225370764
ACAexonicDe novoframeshift deletionNM_001257197
NM_001257198
NM_003590
c.917delG
c.1133delG
c.1115delG
p.G306fs
p.G378fs
p.G372fs
--Antaki2022 GE
Fu2022 E
Zhou2022 GE
CUL3     SP0121865chr2:
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
--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
CUL3     1-0935-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
CUL3     2-1140-003chr2:
225625967-225625967
ACintergenicDe novo--Yuen2017 G
CUL3     2-1140-003chr2:
225590587-225590587
GCintergenicDe novo--Yuen2017 G
CUL3     5412chr2:
225376218-225376218
CAexonicDe novostopgainNM_001257197
NM_001257198
NM_003590
c.G538T
c.G754T
c.G736T
p.E180X
p.E252X
p.E246X
40.0-Fu2022 E
Trost2022 G
CUL3     AU056804chr2:
225604972-225604972
CTintergenicDe novo--Yuen2017 G
CUL3     TASC_211-5511-3chr2:
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     ACGC_M03563chr2:
225370672-225370672
CAsplicingDe novosplicing23.5-Wang2020 T
CUL3     ACGC_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-Wang2020 T
CUL3     AU3889305chr2:
225510712-225510712
CGintergenicDe novo--Yuen2017 G
CUL3     14303.p1chr2:
225338439-225338439
CTUTR3De novo--Wilfert2021 G
CUL3     M03563chr2:
225370672-225370672
CAsplicingDe novosplicing23.5-Guo2018 T
Stessman2017 T
Wang2016 T
CUL3     AU3906301chr2:
225370851-225370851
TCsplicingPaternalsplicing20.6-Cirnigliaro2023 G
CUL3     SF0039888.p1chr2:
225379431-225379435
ATAATAexonicframeshift deletionNM_001257197
NM_001257198
NM_003590
c.235_238del
c.451_454del
c.433_436del
p.I79fs
p.I151fs
p.I145fs
--Wang2020 T
CUL3     DEASD_1027_001chr2:
225422450-225422450
TCexonicDe novononsynonymous SNVNM_001257198
NM_003590
c.A208G
c.A190G
p.M70V
p.M64V
19.95-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CUL3     2-0300-004chr2:
225349239-225349244
CCTAGTCintronicDe novo--Yuen2017 G
CUL3     SF0038503.p1chr2:
225370672-225370672
CAsplicingsplicing23.5-Wang2020 T
CUL3     SF0121865.p1chr2:
225365137-225365141
GCTGAGexonicframeshift deletionNM_001257197
NM_001257198
NM_003590
c.1351_1354del
c.1567_1570del
c.1549_1552del
p.S451fs
p.S523fs
p.S517fs
--Wang2020 T
CUL3     SF0072007.p1chr2:
225378353-225378355
CCTCexonicframeshift deletionNM_001257197
NM_001257198
NM_003590
c.342_343del
c.558_559del
c.540_541del
p.R114fs
p.R186fs
p.R180fs
--Wang2020 T
CUL3     SF0081497.p1chr2:
225370763-225370764
ACAexonicframeshift deletionNM_001257197
NM_001257198
NM_003590
c.917delG
c.1133delG
c.1115delG
p.G306fs
p.G378fs
p.G372fs
--Wang2020 T
CUL3     mAGRE5181chr2:
225376258-225376258
TTACexonicMaternalframeshift insertionNM_001257197
NM_001257198
NM_003590
c.497_498insGT
c.713_714insGT
c.695_696insGT
p.V166fs
p.V238fs
p.V232fs
--Cirnigliaro2023 G
CUL3     mAGRE5180chr2:
225376258-225376258
TTACexonicMaternalframeshift insertionNM_001257197
NM_001257198
NM_003590
c.497_498insGT
c.713_714insGT
c.695_696insGT
p.V166fs
p.V238fs
p.V232fs
--Cirnigliaro2023 G
CUL3     19275-30820chr2:
225422467-225422467
TCexonicnonsynonymous SNVNM_001257198
NM_003590
c.A191G
c.A173G
p.Y64C
p.Y58C
20.2-Callaghan2019 G
CUL3     1-0485-003chr2:
225538383-225538388
AACACAAACAintergenicDe novo--Yuen2017 G
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
CUL3     Gecz1_24936chr2:
225379425-225379425
CTexonicUnknownnonsynonymous SNVNM_001257197
NM_001257198
NM_003590
c.G245A
c.G461A
c.G443A
p.R82Q
p.R154Q
p.R148Q
36.0-Wang2020 T
CUL3     211-5511-3chr2:
225378302-225378310
CTTCCTTCGCTTCGexonicDe 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
CUL3     ACGC_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
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
CUL3     Leuven_376433chr2:
225379411-225379411
GAexonicUnknownnonsynonymous SNVNM_001257197
NM_001257198
NM_003590
c.C259T
c.C475T
c.C457T
p.R87C
p.R159C
p.R153C
23.1-Wang2020 T
CUL3     2-1459-003chr2:
225590471-225590471
AGintergenicDe novo--Yuen2017 G
CUL3     Gecz3_42825chr2:
225379425-225379425
CTexonicUnknownnonsynonymous SNVNM_001257197
NM_001257198
NM_003590
c.G245A
c.G461A
c.G443A
p.R82Q
p.R154Q
p.R148Q
36.0-Wang2020 T
CUL3     Gecz3_41340chr2:
225379425-225379425
CTexonicUnknownnonsynonymous SNVNM_001257197
NM_001257198
NM_003590
c.G245A
c.G461A
c.G443A
p.R82Q
p.R154Q
p.R148Q
36.0-Wang2020 T
CUL3     AU2950301chr2:
225474504-225474504
TCintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

No records found.
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
Curation notesView
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