Variant Results

or

Results for "CUL2"

Variant Events: 32

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

CUL2

7-0058-003

chr10:
35174108-35174108

G

C

intergenic

De novo

-

Yuen2017 G

CUL2

1-0496-003

chr10:
35268277-35268277

G

A

intergenic

De novo

-

Yuen2017 G

CUL2

5-0042-003

chr10:
35163986-35163986

G

A

intergenic

De novo

-

Yuen2017 G

CUL2

1-0720-003

chr10:
35275103-35275103

C

T

intergenic

De novo

-

Yuen2017 G

CUL2

AU4359301

chr10:
35314235-35314235

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUL2

AU011604

chr10:
35292882-35292882

T

C

intergenic

De novo

-

Yuen2017 G

CUL2

mAGRE2007

chr10:
35363119-35363119

C

T

splicing

Maternal

splicing

1.842

-

Cirnigliaro2023 G

CUL2

iHART2007

chr10:
35363119-35363119

C

T

splicing

Maternal

splicing

1.842

-

Ruzzo2019 G

CUL2

1-0184-003

chr10:
35185885-35185885

C

T

intergenic

De novo

-

Yuen2017 G

CUL2

1-0487-003

chr10:
35262532-35262532

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

CUL2

AU3806304

chr10:
35310718-35310718

G

A

intronic

De novo

-

Yuen2017 G

CUL2

1-0234-004

chr10:
35299247-35299247

C

T

exonic

De novo

nonsynonymous SNV

NM_001198777
NM_001198778
NM_001198779
NM_003591

c.G2230A
c.G2287A
c.G2269A
c.G2230A

p.V744I
p.V763I
p.V757I
p.V744I

18.15

2.523E-5

Yuen2015 G
Zhou2022 GE

CUL2

2-1265-003

chr10:
35220456-35220456

C

T

intergenic

De novo

-

Yuen2016 G

CUL2

SP0133145

chr10:
35302632-35302632

G

A

exonic

De novo

nonsynonymous SNV

NM_001198777
NM_001198778
NM_001198779
NM_003591

c.C1984T
c.C2041T
c.C2023T
c.C1984T

p.P662S
p.P681S
p.P675S
p.P662S

19.19

-

Trost2022 G

CUL2

REACH000767

chr10:
35310864-35310864

C

T

intronic

De novo

-

Trost2022 G

CUL2

AU2303301

chr10:
35297312-35297312

G

A

downstream

De novo

-

Trost2022 G

CUL2

5-0003-003

chr10:
35166419-35166419

G

A

intergenic

De novo

-

Yuen2017 G

CUL2

1-0121-003

chr10:
35206235-35206235

G

A

intergenic

De novo

-

Yuen2017 G

CUL2

2-1734-004

chr10:
35368632-35368632

G

C

intronic

De novo

-

Trost2022 G

CUL2

2-1076-004

chr10:
35350262-35350262

C

T

intronic

De novo

-

Trost2022 G

CUL2

1-0756-004

chr10:
35112326-35112326

G

A

intergenic

De novo

-

Yuen2017 G

CUL2

AU3124304

chr10:
35197631-35197635

CAGAG

CAG

intergenic

De novo

-

Yuen2017 G

CUL2

3-0016-000

chr10:
35368407-35368407

G

A

intronic

De novo

-

Trost2022 G

CUL2

AU3911302

chr10:
35321226-35321226

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

CUL2

7-0032-003

chr10:
35310895-35310895

T

G

intronic

De novo

-

Trost2022 G

CUL2

5-0146-003

chr10:
35278977-35278977

A

G

intergenic

De novo

-

Yuen2017 G

CUL2

5-5162-003

chr10:
35330544-35330544

C

T

intronic

De novo

-

Trost2022 G

CUL2

AU1995301

chr10:
35333692-35333692

C

T

intronic

-

Zhou2022 GE

CUL2

2-1525-003

chr10:
35290495-35290500

TAAAAA

TAAAAAA

intergenic

De novo

-

Yuen2017 G

CUL2

AU4072303

chr10:
35178187-35178187

A

G

intergenic

De novo

-

Yuen2017 G

CUL2

AU3782303

chr10:
35363351-35363361

TAAAGTGCTTA

T

intronic

De novo

-

Yuen2017 G

CUL2

Wang2023:687

chr10:
35299248-35299248

G

GC

exonic

De novo

stopgain

NM_001198777
NM_001198778
NM_001198779
NM_003591

c.2228_2229insG
c.2285_2286insG
c.2267_2268insG
c.2228_2229insG

p.Y743_V744delinsX
p.Y762_V763delinsX
p.Y756_V757delinsX
p.Y743_V744delinsX

-

Wang2023 E

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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