Variant Results

or

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

Mahjani2021:22

chr2:
225371576-225371576

T

C

exonic

nonsynonymous SNV

NM_001257197
NM_001257198
NM_003590

c.A830G
c.A1046G
c.A1028G

p.Q277R
p.Q349R
p.Q343R

28.4

-

Mahjani2021 E

CUL3

2-1247-003

chr2:
225378301-225378305

TCTTC

T

exonic

De novo

frameshift deletion

NM_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

M30853

chr2:
225376128-225376128

T

C

exonic

Maternal

nonsynonymous SNV

NM_001257197
NM_001257198
NM_003590

c.A628G
c.A844G
c.A826G

p.I210V
p.I282V
p.I276V

16.99

-

Guo2018 T

CUL3

Uddin2014:54

chr2:
225376218-225376218

C

A

exonic

De novo

stopgain

NM_001257197
NM_001257198
NM_003590

c.G538T
c.G754T
c.G736T

p.E180X
p.E252X
p.E246X

40.0

-

Uddin2014 E

CUL3

GX0260.p1

chr2:
225346756-225346756

C

T

exonic

Maternal

nonsynonymous SNV

NM_001257197
NM_001257198
NM_003590

c.G1684A
c.G1900A
c.G1882A

p.V562I
p.V634I
p.V628I

17.54

-

Guo2018 T

CUL3

AU076508

chr2:
225358786-225358786

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUL3

GX0166.p1

chr2:
225422384-225422384

T

C

exonic

Maternal

nonsynonymous SNV

NM_001257198
NM_003590

c.A274G
c.A256G

p.I92V
p.I86V

12.6

-

Guo2018 T

CUL3

11452.p1

chr2:
225376218-225376218

C

A

exonic

Unknown, De novo

stopgain

NM_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

2-1308-003

chr2:
225369759-225369759

T

C

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

CUL3

F1389-1

chr2:
225378299-225378299

G

C

exonic

De novo

stopgain

NM_001257197
NM_001257198
NM_003590

c.C398G
c.C614G
c.C596G

p.S133X
p.S205X
p.S199X

38.0

-

Montenegro2019 E

CUL3

1-0627-004

chr2:
225490707-225490707

C

T

intergenic

De novo

-

Yuen2017 G

CUL3

SP0187409

chr2:
225365140-225365140

G

C

exonic

stopgain

NM_001257197
NM_001257198
NM_003590

c.C1352G
c.C1568G
c.C1550G

p.S451X
p.S523X
p.S517X

43.0

-

Zhou2022 GE

CUL3

SP0350881

chr2:
225362516-225362516

A

G

exonic

nonsynonymous SNV

NM_001257197
NM_001257198
NM_003590

c.T1463C
c.T1679C
c.T1661C

p.M488T
p.M560T
p.M554T

19.04

-

Zhou2022 GE

CUL3

AU3760302

chr2:
225412345-225412345

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUL3

SP0352547

chr2:
225338988-225338988

G

A

exonic

nonsynonymous SNV

NM_001257197
NM_001257198
NM_003590

c.C2083T
c.C2299T
c.C2281T

p.R695C
p.R767C
p.R761C

17.58

8.244E-6

Zhou2022 GE

CUL3

AGRE_03C16170

chr2:
225376215-225376215

G

A

exonic

Unknown

stopgain

NM_001257197
NM_001257198
NM_003590

c.C541T
c.C757T
c.C739T

p.R181X
p.R253X
p.R247X

40.0

-

Wang2020 T

CUL3

3-0842-000

chr2:
225367724-225367724

G

A

exonic

De novo

synonymous SNV

NM_001257197
NM_001257198
NM_003590

c.C1245T
c.C1461T
c.C1443T

p.N415N
p.N487N
p.N481N

-

Trost2022 G
Zhou2022 GE

CUL3

Leuven2_64498769

chr2:
225346626-225346628

CTG

C

exonic

Unknown

frameshift deletion

NM_001257197
NM_001257198
NM_003590

c.1812_1813del
c.2028_2029del
c.2010_2011del

p.H604fs
p.H676fs
p.H670fs

-

Wang2020 T

CUL3

SP0038503

chr2:
225370672-225370672

C

A

splicing

23.5

-

Zhou2022 GE

CUL3

5-5046-004

chr2:
225441165-225441168

TCTA

T

intronic

De novo

-

Trost2022 G

CUL3

MSSNG00008-004

chr2:
225444473-225444473

G

A

intronic

De novo

-

Trost2022 G

CUL3

2-1076-004

chr2:
225422251-225422251

G

A

intronic

De novo

-

Trost2022 G

CUL3

AU045512

chr2:
225564254-225564254

A

C

intergenic

De novo

-

Yuen2017 G

CUL3

2-0112-005

chr2:
225440218-225440218

T

C

intronic

De novo

-

Trost2022 G

CUL3

MSSNG00340-003

chr2:
225376373-225376373

A

G

intronic

De novo

-

Trost2022 G

CUL3

03C16170

chr2:
225376215-225376215

G

A

exonic

Inherited

stopgain

NM_001257197
NM_001257198
NM_003590

c.C541T
c.C757T
c.C739T

p.R181X
p.R253X
p.R247X

40.0

-

Stessman2017 T

CUL3

4-0062-003

chr2:
225386114-225386115

AA

TT

intronic

De novo

-

Trost2022 G

CUL3

REACH000762

chr2:
225340190-225340190

T

G

intronic

De novo

-

Trost2022 G

CUL3

iHART3225

chr2:
225370851-225370851

T

C

splicing

Paternal

splicing

20.6

-

Ruzzo2019 G

CUL3

1-1049-003

chr2:
225371555-225371555

A

G

intronic

De novo

-

8.32E-6

Trost2022 G

CUL3

Lim2017:5412

chr2:
225376218-225376218

C

A

exonic

De novo

stopgain

NM_001257197
NM_001257198
NM_003590

c.G538T
c.G754T
c.G736T

p.E180X
p.E252X
p.E246X

40.0

-

Lim2017 E

CUL3

1-0354-006

chr2:
225419040-225419044

TAAAG

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUL3

REACH000150

chr2:
225448638-225448638

A

G

intronic

De novo

-

Trost2022 G

CUL3

SP0072007

chr2:
225378353-225378355

CCT

C

exonic

De novo

frameshift deletion

NM_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

SSC02255

chr2:
225376218-225376218

C

A

exonic

stopgain

NM_001257197
NM_001257198
NM_003590

c.G538T
c.G754T
c.G736T

p.E180X
p.E252X
p.E246X

40.0

-

Antaki2022 GE

CUL3

AU4153301

chr2:
225342581-225342581

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUL3

SP0039888

chr2:
225379431-225379435

ATAAT

A

exonic

De novo

frameshift deletion

NM_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_7

chr2:
225342936-225342936

T

C

exonic

De novo

nonsynonymous SNV

NM_001257197
NM_001257198
NM_003590

c.A1958G
c.A2174G
c.A2156G

p.H653R
p.H725R
p.H719R

27.6

8.241E-6

Codina-Sola2015 E

CUL3

SP0081497

chr2:
225370763-225370764

AC

A

exonic

De novo

frameshift deletion

NM_001257197
NM_001257198
NM_003590

c.917delG
c.1133delG
c.1115delG

p.G306fs
p.G378fs
p.G372fs

-

Antaki2022 GE
Fu2022 E
Zhou2022 GE

CUL3

SP0121865

chr2:
225365137-225365141

GCTGA

G

exonic

De novo

frameshift deletion

NM_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

2-1140-003

chr2:
225625967-225625967

A

C

intergenic

De novo

-

Yuen2017 G

CUL3

2-1140-003

chr2:
225590587-225590587

G

C

intergenic

De novo

-

Yuen2017 G

CUL3

5412

chr2:
225376218-225376218

C

A

exonic

De novo

stopgain

NM_001257197
NM_001257198
NM_003590

c.G538T
c.G754T
c.G736T

p.E180X
p.E252X
p.E246X

40.0

-

Fu2022 E
Trost2022 G

CUL3

AU056804

chr2:
225604972-225604972

C

T

intergenic

De novo

-

Yuen2017 G

CUL3

TASC_211-5511-3

chr2:
225378301-225378305

TCTTC

T

exonic

De novo

frameshift deletion

NM_001257197
NM_001257198
NM_003590

c.392_395del
c.608_611del
c.590_593del

p.G131fs
p.G203fs
p.G197fs

-

Wang2020 T

CUL3

ACGC_M03563

chr2:
225370672-225370672

C

A

splicing

De novo

splicing

23.5

-

Wang2020 T

CUL3

ACGC_GX0263.p1

chr2:
225346695-225346695

G

A

exonic

De novo

nonsynonymous SNV

NM_001257197
NM_001257198
NM_003590

c.C1745T
c.C1961T
c.C1943T

p.P582L
p.P654L
p.P648L

33.0

-

Wang2020 T

CUL3

AU3889305

chr2:
225510712-225510712

C

G

intergenic

De novo

-

Yuen2017 G

CUL3

14303.p1

chr2:
225338439-225338439

C

T

UTR3

De novo

-

Wilfert2021 G

CUL3

M03563

chr2:
225370672-225370672

C

A

splicing

De novo

splicing

23.5

-

Guo2018 T
Stessman2017 T
Wang2016 T

CUL3

AU3906301

chr2:
225370851-225370851

T

C

splicing

Paternal

splicing

20.6

-

Cirnigliaro2023 G

CUL3

SF0039888.p1

chr2:
225379431-225379435

ATAAT

A

exonic

frameshift deletion

NM_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_001

chr2:
225422450-225422450

T

C

exonic

De novo

nonsynonymous SNV

NM_001257198
NM_003590

c.A208G
c.A190G

p.M70V
p.M64V

19.95

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

CUL3

2-0300-004

chr2:
225349239-225349244

CCTAGT

C

intronic

De novo

-

Yuen2017 G

CUL3

SF0038503.p1

chr2:
225370672-225370672

C

A

splicing

23.5

-

Wang2020 T

CUL3

SF0121865.p1

chr2:
225365137-225365141

GCTGA

G

exonic

frameshift deletion

NM_001257197
NM_001257198
NM_003590

c.1351_1354del
c.1567_1570del
c.1549_1552del

p.S451fs
p.S523fs
p.S517fs

-

Wang2020 T

CUL3

SF0072007.p1

chr2:
225378353-225378355

CCT

C

exonic

frameshift deletion

NM_001257197
NM_001257198
NM_003590

c.342_343del
c.558_559del
c.540_541del

p.R114fs
p.R186fs
p.R180fs

-

Wang2020 T

CUL3

SF0081497.p1

chr2:
225370763-225370764

AC

A

exonic

frameshift deletion

NM_001257197
NM_001257198
NM_003590

c.917delG
c.1133delG
c.1115delG

p.G306fs
p.G378fs
p.G372fs

-

Wang2020 T

CUL3

mAGRE5181

chr2:
225376258-225376258

T

TAC

exonic

Maternal

frameshift insertion

NM_001257197
NM_001257198
NM_003590

c.497_498insGT
c.713_714insGT
c.695_696insGT

p.V166fs
p.V238fs
p.V232fs

-

Cirnigliaro2023 G

CUL3

mAGRE5180

chr2:
225376258-225376258

T

TAC

exonic

Maternal

frameshift insertion

NM_001257197
NM_001257198
NM_003590

c.497_498insGT
c.713_714insGT
c.695_696insGT

p.V166fs
p.V238fs
p.V232fs

-

Cirnigliaro2023 G

CUL3

19275-30820

chr2:
225422467-225422467

T

C

exonic

nonsynonymous SNV

NM_001257198
NM_003590

c.A191G
c.A173G

p.Y64C
p.Y58C

20.2

-

Callaghan2019 G

CUL3

1-0485-003

chr2:
225538383-225538388

AACACA

AACA

intergenic

De novo

-

Yuen2017 G

CUL3

376433

chr2:
225379411-225379411

G

A

exonic

Unknown

nonsynonymous SNV

NM_001257197
NM_001257198
NM_003590

c.C259T
c.C475T
c.C457T

p.R87C
p.R159C
p.R153C

23.1

-

Stessman2017 T

CUL3

Gecz1_24936

chr2:
225379425-225379425

C

T

exonic

Unknown

nonsynonymous SNV

NM_001257197
NM_001257198
NM_003590

c.G245A
c.G461A
c.G443A

p.R82Q
p.R154Q
p.R148Q

36.0

-

Wang2020 T

CUL3

211-5511-3

chr2:
225378302-225378310

CTTCCTTCG

CTTCG

exonic

De novo

frameshift deletion

NM_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.p1

chr2:
225360607-225360607

G

A

exonic

Unknown

nonsynonymous SNV

NM_001257197
NM_001257198
NM_003590

c.C1586T
c.C1802T
c.C1784T

p.S529F
p.S601F
p.S595F

18.74

-

Wang2020 T

CUL3

GX0263.p1

chr2:
225346695-225346695

G

A

exonic

De novo

nonsynonymous SNV

NM_001257197
NM_001257198
NM_003590

c.C1745T
c.C1961T
c.C1943T

p.P582L
p.P654L
p.P648L

33.0

-

Guo2018 T

CUL3

Leuven_376433

chr2:
225379411-225379411

G

A

exonic

Unknown

nonsynonymous SNV

NM_001257197
NM_001257198
NM_003590

c.C259T
c.C475T
c.C457T

p.R87C
p.R159C
p.R153C

23.1

-

Wang2020 T

CUL3

2-1459-003

chr2:
225590471-225590471

A

G

intergenic

De novo

-

Yuen2017 G

CUL3

Gecz3_42825

chr2:
225379425-225379425

C

T

exonic

Unknown

nonsynonymous SNV

NM_001257197
NM_001257198
NM_003590

c.G245A
c.G461A
c.G443A

p.R82Q
p.R154Q
p.R148Q

36.0

-

Wang2020 T

CUL3

Gecz3_41340

chr2:
225379425-225379425

C

T

exonic

Unknown

nonsynonymous SNV

NM_001257197
NM_001257198
NM_003590

c.G245A
c.G461A
c.G443A

p.R82Q
p.R154Q
p.R148Q

36.0

-

Wang2020 T

CUL3

AU2950301

chr2:
225474504-225474504

T

C

intergenic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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