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Results for "CUX1"

Variant Events: 31

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     7-0256-003chr7:
101494746-101494746
CTintronicDe novo--Yuen2017 G
CUX1     11252.p1chr7:
101808310-101808310
GAintronicDe novo--Turner2016 G
CUX1     2-0225-004chr7:
101580375-101580375
CAintronicDe novo--Yuen2017 G
CUX1     AU034903chr7:
101751416-101751416
ACintronicDe novo--Yuen2017 G
CUX1     AU2292302chr7:
101849635-101849635
AGintronicDe novo--Yuen2017 G
CUX1     09C83077chr7:
101821789-101821789
TCexonicDe novononsynonymous SNVNM_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
8.018.606E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
CUX1     2-0238-003chr7:
101860046-101860046
CCCCACACAintronicDe novo--Yuen2017 G
CUX1     2-0310-003chr7:
101888399-101888399
CTintronicDe novo--Yuen2017 G
CUX1     AU3839303chr7:
101461210-101461210
CTintronicDe novo--Yuen2017 G
CUX1     1-0559-004chr7:
101903883-101903883
TCintronicDe novo--Yuen2017 G
CUX1     AU2787302chr7:
101588521-101588521
CTintronicDe novo--Yuen2017 G
CUX1     1-0381-003chr7:
101845383-101845383
GAexonicDe novononsynonymous SNVNM_001202543
NM_181552
c.G2839A
c.G2806A
p.E947K
p.E936K
26.9-Yuen2017 G
CUX1     2-0198-003chr7:
101473624-101473624
GAintronicDe novo--Yuen2017 G
CUX1     AU4164301chr7:
101758625-101758625
CTintronicDe novo--Yuen2017 G
CUX1     1-0336-004chr7:
101903781-101903781
GAintronicDe novo--Yuen2017 G
CUX1     1-0043-003chr7:
101903883-101903883
TCintronicDe novo--Yuen2017 G
CUX1     1883-23662chr7:
101559446-101559446
GAexonicnonsynonymous SNVNM_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     1-0104-003chr7:
101523484-101523484
GAintronicDe novo--Yuen2017 G
CUX1     AU025704chr7:
101698957-101698957
TAintronicDe novo--Yuen2017 G
CUX1     7-0023-003chr7:
101505218-101505218
GAintronicDe novo--Yuen2017 G
CUX1     AU056204chr7:
101927156-101927156
GAUTR3De novo--Yuen2017 G
CUX1     AU072504chr7:
101834932-101834932
CTintronicDe novo--Yuen2017 G
CUX1     1-0210-004chr7:
101688617-101688617
GAintronicDe novo--Yuen2017 G
CUX1     2-1562-003chr7:
101903557-101903557
ACintronicDe novo--Yuen2017 G
CUX1     2-1735-003chr7:
101531435-101531438
GAAAGAintronicDe novo--Yuen2017 G
CUX1     AU072504chr7:
101919524-101919524
TCintronicDe novo--Yuen2017 G
CUX1     1-0244-003chr7:
101532132-101532132
AGintronicDe novo--Yuen2016 G
Yuen2017 G
CUX1     2-0013-003chr7:
101903883-101903883
TCintronicDe novo--Yuen2017 G
CUX1     AU3912302chr7:
101894172-101894172
CTUTR3De novo--Yuen2017 G
CUX1     1-0253-004chr7:
101903883-101903883
TCintronicDe 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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