Variant Results

or

Results for "CUX1"

Variant Events: 40

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

CUX1

2-1182-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

CUX1

SP0125269

chr7:
101896980-101896980

G

T

UTR3

De novo

-

Fu2022 E

CUX1

SP0010649

chr7:
101898090-101898096

CCAGTCT

C

UTR3

De novo

-

Fu2022 E

CUX1

7-0256-003

chr7:
101494746-101494746

C

T

intronic

De novo

-

Yuen2017 G

CUX1

SP0110865

chr7:
101897012-101897012

C

T

UTR3

De novo

-

Fu2022 E

CUX1

11252.p1

chr7:
101808310-101808310

G

A

intronic

De novo

-

Turner2016 G

CUX1

2-0225-004

chr7:
101580375-101580375

C

A

intronic

De novo

-

Yuen2017 G

CUX1

AU034903

chr7:
101751416-101751416

A

C

intronic

De novo

-

Yuen2017 G

CUX1

AU2292302

chr7:
101849635-101849635

A

G

intronic

De novo

-

Yuen2017 G

CUX1

09C83077

chr7:
101821789-101821789

T

C

exonic

De novo

nonsynonymous SNV

NM_001202544
NM_001202545
NM_001202546
NM_001202543
NM_001913
NM_181500
NM_181552

c.T854C
c.T764C
c.T785C
c.T902C
c.T902C
c.T896C
c.T869C

p.V285A
p.V255A
p.V262A
p.V301A
p.V301A
p.V299A
p.V290A

8.01

8.606E-6

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E

CUX1

SP0127690

chr7:
101898833-101898833

C

T

UTR3

De novo

-

Fu2022 E

CUX1

2-0238-003

chr7:
101860046-101860046

C

CCCACACA

intronic

De novo

-

Yuen2017 G

CUX1

SP0058138

chr7:
101898608-101898608

G

A

UTR3

De novo

-

Fu2022 E

CUX1

SP0144594

chr7:
101901198-101901198

C

A

UTR3

De novo

-

Fu2022 E

CUX1

2-0310-003

chr7:
101888399-101888399

C

T

intronic

De novo

-

Yuen2017 G

CUX1

AU3839303

chr7:
101461210-101461210

C

T

intronic

De novo

-

Yuen2017 G

CUX1

1-0559-004

chr7:
101903883-101903883

T

C

intronic

De novo

-

Yuen2017 G

CUX1

AU2787302

chr7:
101588521-101588521

C

T

intronic

De novo

-

Yuen2017 G

CUX1

1-0381-003

chr7:
101845383-101845383

G

A

exonic

De novo

nonsynonymous SNV

NM_001202543
NM_181552

c.G2839A
c.G2806A

p.E947K
p.E936K

26.9

-

Yuen2017 G

CUX1

More2023:16

chr7:
101921292-101921292

A

C

exonic

Inherited

nonsynonymous SNV

NM_001202544
NM_001202545
NM_001202546
NM_001913
NM_181500

c.A1588C
c.A1498C
c.A1519C
c.A1636C
c.A1630C

p.K530Q
p.K500Q
p.K507Q
p.K546Q
p.K544Q

21.6

0.0063

More2023 G

CUX1

2-0198-003

chr7:
101473624-101473624

G

A

intronic

De novo

-

Yuen2017 G

CUX1

AU4164301

chr7:
101758625-101758625

C

T

intronic

De novo

-

Yuen2017 G

CUX1

1-0336-004

chr7:
101903781-101903781

G

A

intronic

De novo

-

Yuen2017 G

CUX1

1-0043-003

chr7:
101903883-101903883

T

C

intronic

De novo

-

Yuen2017 G

CUX1

1883-23662

chr7:
101559446-101559446

G

A

exonic

nonsynonymous SNV

NM_001202543
NM_001202544
NM_001202545
NM_001913
NM_181500
NM_181552

c.G115A
c.G115A
c.G115A
c.G115A
c.G115A
c.G82A

p.E39K
p.E39K
p.E39K
p.E39K
p.E39K
p.E28K

24.6

-

Callaghan2019 G

CUX1

1-0104-003

chr7:
101523484-101523484

G

A

intronic

De novo

-

Yuen2017 G

CUX1

AU025704

chr7:
101698957-101698957

T

A

intronic

De novo

-

Yuen2017 G

CUX1

7-0023-003

chr7:
101505218-101505218

G

A

intronic

De novo

-

Yuen2017 G

CUX1

AU056204

chr7:
101927156-101927156

G

A

UTR3

De novo

-

Yuen2017 G

CUX1

AU072504

chr7:
101834932-101834932

C

T

intronic

De novo

-

Yuen2017 G

CUX1

1-0210-004

chr7:
101688617-101688617

G

A

intronic

De novo

-

Yuen2017 G

CUX1

2-1562-003

chr7:
101903557-101903557

A

C

intronic

De novo

-

Yuen2017 G

CUX1

2-1735-003

chr7:
101531435-101531438

GAAA

GA

intronic

De novo

-

Yuen2017 G

CUX1

AU072504

chr7:
101919524-101919524

T

C

intronic

De novo

-

Yuen2017 G

CUX1

SMHC01556s000

chr7:
101870908-101870909

TA

T

exonic

De novo

frameshift deletion

NM_001202543
NM_181552

c.3426delA
c.3393delA

p.I1142fs
p.I1131fs

-

Yuan2023 E

CUX1

1-0244-003

chr7:
101532132-101532132

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

CUX1

2-0013-003

chr7:
101903883-101903883

T

C

intronic

De novo

-

Yuen2017 G

CUX1

AU3912302

chr7:
101894172-101894172

C

T

UTR3

De novo

-

Yuen2017 G

CUX1

1-0253-004

chr7:
101903883-101903883

T

C

intronic

De novo

-

Yuen2017 G

CUX1

SMHC01432s000

chr7:
101892059-101892059

G

T

exonic

De novo

nonsynonymous SNV

NM_001202543
NM_181552

c.G4288T
c.G4255T

p.D1430Y
p.D1419Y

12.02

-

Yuan2023 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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