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Results for "CUX2"

Variant Events: 12

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
CUX2     AU024004chr12:
111732322-111732322
GCintronicDe novo--Yuen2017 G
CUX2     DEASD_0049_001chr12:
111748483-111748483
CTexonicDe novostopgainNM_015267c.C1897Tp.R633X37.09.259E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
CUX2     2-1174-006chr12:
111636193-111636193
CAintronicDe novo--Yuen2017 G
CUX2     304-09-111628chr12:
111749995-111749995
GTexonicDe novosynonymous SNVNM_015267c.G1992Tp.S664S--Satterstrom2020 E
CUX2     14137.p1chr12:
111757982-111757982
GGCexonicDe novoframeshift insertionNM_015267c.2170dupCp.V723fs--Wilfert2021 G
CUX2     2-1398-004chr12:
111790288-111790292
TACTCTintergenicDe novo--Yuen2017 G
CUX2     AU1308303chr12:
111714202-111714202
GAintronicDe novo--Yuen2017 G
CUX2     3-0027-001chr12:
111785392-111785392
GAexonicDe novononsynonymous SNVNM_015267c.G3724Ap.G1242R15.572.0E-4Yuen2015 G
CUX2     AU3051302chr12:
111525781-111525781
CTintronicDe novo--Yuen2017 G
CUX2     2-1180-003chr12:
111548904-111548904
GAintronicDe novo--Yuen2016 G
CUX2     2-1375-003chr12:
111624116-111624116
GAintronicDe novo--Yuen2016 G
Yuen2017 G
CUX2     EGAN00001100880chr12:
111748331-111748331
GAexonicDe novononsynonymous SNVNM_015267c.G1745Ap.G582E17.51-Satterstrom2020 E
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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