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Results for "CUX1"

Variant Events: 71

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     SP0125269chr7:
101896980-101896980
GTUTR3De novo--Fu2022 E
Trost2022 G
CUX1     MT_74.3chr7:
101612844-101612844
CTintronicDe novo--Trost2022 G
CUX1     SSC11492chr7:
101923364-101923365
GTGexonicPaternalframeshift deletionNM_001202544
NM_001202545
NM_001202546
NM_001913
NM_181500
c.1669delT
c.1579delT
c.1600delT
c.1717delT
c.1711delT
p.S557fs
p.S527fs
p.S534fs
p.S573fs
p.S571fs
-2.494E-5Chan2022 G
CUX1     2-1764-004chr7:
101623842-101623842
GAintronicDe novo--Trost2022 G
CUX1     SP0010649chr7:
101898090-101898096
CCAGTCTCUTR3De novo--Fu2022 E
Trost2022 G
CUX1     AU2463301chr7:
101603353-101603353
GAintronicDe novo--Trost2022 G
CUX1     7-0256-003chr7:
101494746-101494746
CTintronicDe novo--Trost2022 G
Yuen2017 G
CUX1     SP0110865chr7:
101897012-101897012
CTUTR3De novo--Fu2022 E
Trost2022 G
CUX1     AU2387301chr7:
101609730-101609730
GTintronicDe novo--Trost2022 G
CUX1     1-0633-003chr7:
101560895-101560895
GAintronicDe novo--Trost2022 G
CUX1     4-0073-003chr7:
101591847-101591849
GGTCGAintronicDe novo--Trost2022 G
CUX1     MSSNG00043-003chr7:
101501062-101501062
AGintronicDe novo--Trost2022 G
CUX1     5-5040-003chr7:
101697411-101697411
GAintronicDe novo--Trost2022 G
CUX1     AU2292302chr7:
101849635-101849635
AGintronicDe novo--Yuen2017 G
CUX1     7-0394-003chr7:
101714458-101714458
CTintronicDe novo--Trost2022 G
CUX1     MSSNG00027-004chr7:
101692238-101692238
TCintronicDe novo--Trost2022 G
CUX1     1-1026-003chr7:
101694222-101694226
CTCTTCintronicDe novo--Trost2022 G
CUX1     SP0127690chr7:
101898833-101898833
CTUTR3De novo--Fu2022 E
Trost2022 G
CUX1     2-1106-004chr7:
101652534-101652534
AGintronicDe novo--Trost2022 G
CUX1     2-0238-003chr7:
101860046-101860046
CCCCACACAintronicDe novo--Yuen2017 G
CUX1     SP0058138chr7:
101898608-101898608
GAUTR3De novo--Fu2022 E
Trost2022 G
CUX1     1-1233-003chr7:
101665248-101665248
CTintronicDe novo--Trost2022 G
CUX1     MT_25.3chr7:
101633253-101633253
CTintronicDe novo--Trost2022 G
CUX1     SP0144594chr7:
101901198-101901198
CAUTR3De novo--Fu2022 E
CUX1     1-1165-003chr7:
101633361-101633361
GAintronicDe novo--Trost2022 G
CUX1     3-0785-000chr7:
101840618-101840618
CTintronicDe novo--Trost2022 G
CUX1     5-0051-003chr7:
101856686-101856686
TCintronicDe novo--Trost2022 G
CUX1     7-0352-003chr7:
101769194-101769194
CTintronicDe novo--Trost2022 G
CUX1     2-1235-004chr7:
101771536-101771537
GCGintronicDe novo--Trost2022 G
CUX1     1-0559-004chr7:
101903883-101903883
TCintronicDe novo--Yuen2017 G
CUX1     REACH000345chr7:
101751514-101751514
GTintronicDe novo--Trost2022 G
CUX1     1-1136-003chr7:
101757804-101757804
GAintronicDe novo--Trost2022 G
CUX1     1-1005-005Achr7:
101741154-101741154
TAintronicDe novo--Trost2022 G
CUX1     MSSNG00371-003chr7:
101745920-101745920
GAintronicDe novo--Trost2022 G
CUX1     SP0018949chr7:
101901178-101901180
CTTCUTR3De novo--Trost2022 G
CUX1     2-0242-003chr7:
101903549-101903551
TGCAGTATTTTCAGTintronicDe novo--Trost2022 G
CUX1     1-0336-004chr7:
101903781-101903781
GAintronicDe novo--Trost2022 G
Yuen2017 G
CUX1     SP0125269chr7:
101896978-101896978
CAUTR3De novo--Trost2022 G
CUX1     X3N7Y_01chr7:
101898991-101898991
GAUTR3De novo--Trost2022 G
CUX1     5-5027-003chr7:
101883430-101883430
ACintronicDe novo--Trost2022 G
CUX1     SP0125269chr7:
101896976-101896976
GGCCTTUTR3De novo--Trost2022 G
CUX1     1-0104-003chr7:
101523484-101523484
GAintronicDe novo--Trost2022 G
Yuen2017 G
CUX1     AU025704chr7:
101698957-101698957
TAintronicDe novo--Trost2022 G
Yuen2017 G
CUX1     7-0023-003chr7:
101505218-101505218
GAintronicDe novo--Trost2022 G
Yuen2017 G
CUX1     1-0210-004chr7:
101688617-101688617
GAintronicDe novo--Yuen2017 G
CUX1     2-1182-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
CUX1     11252.p1chr7:
101808310-101808310
GAintronicDe novo--Turner2016 G
CUX1     2-0225-004chr7:
101580375-101580375
CAintronicDe novo--Trost2022 G
Yuen2017 G
CUX1     AU034903chr7:
101751416-101751416
ACintronicDe 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
Zhou2022 GE
CUX1     2-0310-003chr7:
101888399-101888399
CTintronicDe novo--Trost2022 G
Yuen2017 G
CUX1     AU3839303chr7:
101461210-101461210
CTintronicDe novo--Trost2022 G
Yuen2017 G
CUX1     AU2787302chr7:
101588521-101588521
CTintronicDe novo--Trost2022 G
Yuen2017 G
CUX1     1-0381-003chr7:
101845383-101845383
GAexonicDe novononsynonymous SNVNM_001202543
NM_181552
c.G2839A
c.G2806A
p.E947K
p.E936K
26.9-Trost2022 G
Yuen2017 G
Zhou2022 GE
CUX1     More2023:16chr7:
101921292-101921292
ACexonicInheritednonsynonymous SNVNM_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
21.60.0063More2023 G
CUX1     2-0198-003chr7:
101473624-101473624
GAintronicDe novo--Trost2022 G
Yuen2017 G
CUX1     AU4164301chr7:
101758625-101758625
CTintronicDe novo--Trost2022 G
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     AU056204chr7:
101927156-101927156
GAUTR3De novo--Trost2022 G
Yuen2017 G
CUX1     AU072504chr7:
101834932-101834932
CTintronicDe novo--Trost2022 G
Yuen2017 G
CUX1     2-1562-003chr7:
101903557-101903557
ACintronicDe novo--Yuen2017 G
CUX1     2-1735-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
CUX1     AU072504chr7:
101919524-101919524
TCintronicDe novo--Yuen2017 G
CUX1     SMHC01556s000chr7:
101870908-101870909
TATexonicDe novoframeshift deletionNM_001202543
NM_181552
c.3426delA
c.3393delA
p.I1142fs
p.I1131fs
--Yuan2023 E
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--Trost2022 G
Yuen2017 G
CUX1     11258.p1chr7:
101891757-101891757
CGexonicnonsynonymous SNVNM_001202543
NM_181552
c.C3986G
c.C3953G
p.A1329G
p.A1318G
15.67-Zhou2022 GE
CUX1     1-0253-004chr7:
101903883-101903883
TCintronicDe novo--Yuen2017 G
CUX1     SMHC01432s000chr7:
101892059-101892059
GTexonicDe novononsynonymous SNVNM_001202543
NM_181552
c.G4288T
c.G4255T
p.D1430Y
p.D1419Y
12.02-Yuan2023 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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