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Results for "CUL7"

Variant Events: 48

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
CUL7     M01703chr6:
43017322-43017322
GAexonicPaternalstopgainNM_001168370
NM_014780
c.C1900T
c.C1648T
p.R634X
p.R550X
39.08.237E-6Guo2018 T
Wang2016 T
CUL7     PN400372chr6:
43006016-43006016
GTexonicUnknownnonsynonymous SNVNM_001168370
NM_014780
c.C5014A
c.C4762A
p.L1672I
p.L1588I
29.50.0081Leblond2019 E
CUL7     M08545chr6:
43017730-43017730
GAexonicPaternalstopgainNM_001168370
NM_014780
c.C1792T
c.C1540T
p.Q598X
p.Q514X
37.0-Guo2018 T
Wang2016 T
CUL7     M03333chr6:
43008414-43008414
CTexonicMaternalnonsynonymous SNVNM_001168370
NM_014780
c.G4129A
c.G3877A
p.G1377S
p.G1293S
34.06.596E-5Wang2016 T
CUL7     PN400203chr6:
43006016-43006016
GTexonicUnknownnonsynonymous SNVNM_001168370
NM_014780
c.C5014A
c.C4762A
p.L1672I
p.L1588I
29.50.0081Leblond2019 E
CUL7     1-0636-003chr6:
43015787-43015787
CTintronicDe novo--Yuen2017 G
CUL7     SP0008104chr6:
43008156-43008156
AGexonicDe novosynonymous SNVNM_001168370
NM_014780
c.T4284C
c.T4032C
p.L1428L
p.L1344L
--Feliciano2019 E
CUL7     111302chr6:
43008300-43008300
GCexonicnonsynonymous SNVNM_001168370
NM_014780
c.C4243G
c.C3991G
p.L1415V
p.L1331V
22.3-Woodbury-Smith2022 E
CUL7     214-17043-1chr6:
43005430-43005430
CTexonicUnknownnonsynonymous SNVNM_001168370
NM_014780
c.G5345A
c.G5093A
p.R1782Q
p.R1698Q
20.12.0E-4Stessman2017 T
CUL7     08C78505chr6:
43013070-43013070
CGexonicDe novononsynonymous SNVNM_001168370
NM_014780
c.G3185C
c.G2933C
p.R1062P
p.R978P
19.27-Satterstrom2020 E
CUL7     PN400132chr6:
43006016-43006016
GTexonicUnknownnonsynonymous SNVNM_001168370
NM_014780
c.C5014A
c.C4762A
p.L1672I
p.L1588I
29.50.0081Leblond2019 E
CUL7     GX0313.p1chr6:
43006087-43006087
CTexonicMaternalnonsynonymous SNVNM_001168370
NM_014780
c.G4943A
c.G4691A
p.R1648Q
p.R1564Q
34.0-Guo2018 T
CUL7     SP0046673chr6:
43020439-43020439
CTexonicDe novononsynonymous SNVNM_001168370
NM_014780
c.G244A
c.G88A
p.V82M
p.V30M
20.45.814E-5Feliciano2019 E
CUL7     Z7W4Jchr6:
43006211-43006211
CTsplicingInheritedsplicing19.54-Stessman2017 T
CUL7     Cukier2014:37425chr6:
43014022-43014022
GAexonicUnknownnonsynonymous SNVNM_001168370
NM_014780
c.C2864T
c.C2612T
p.A955V
p.A871V
20.70.0212Cukier2014 E
CUL7     M03623chr6:
43006061-43006061
GAexonicMaternalstopgainNM_001168370
NM_014780
c.C4969T
c.C4717T
p.R1657X
p.R1573X
45.08.27E-6Guo2018 T
Wang2016 T
CUL7     214-17106-1chr6:
43019403-43019403
GAexonicInheritedstopgainNM_001168370
NM_014780
c.C931T
c.C679T
p.Q311X
p.Q227X
37.0-Stessman2017 T
CUL7     AU002804chr6:
43018087-43018087
AGexonicUnknownnonsynonymous SNVNM_001168370
NM_014780
c.T1535C
c.T1283C
p.L512P
p.L428P
24.1-Stessman2017 T
CUL7     M08067chr6:
43019495-43019495
CTexonicMaternalnonsynonymous SNVNM_001168370
NM_014780
c.G839A
c.G587A
p.R280Q
p.R196Q
31.05.766E-5Guo2018 T
Wang2016 T
CUL7     M23073chr6:
43020447-43020447
CTexonicMaternalnonsynonymous SNVNM_001168370
NM_014780
c.G236A
c.G80A
p.R79H
p.R27H
32.0-Guo2018 T
Wang2016 T
CUL7     PN400474chr6:
43006016-43006016
GTexonicUnknownnonsynonymous SNVNM_001168370
NM_014780
c.C5014A
c.C4762A
p.L1672I
p.L1588I
29.50.0081Leblond2019 E
CUL7     02C11354chr6:
43021595-43021595
AGexonicInheritednonsynonymous SNVNM_001168370c.T2Cp.M1T10.78-Stessman2017 T
CUL7     H7E6Mchr6:
43020447-43020447
CTexonicMaternalnonsynonymous SNVNM_001168370
NM_014780
c.G236A
c.G80A
p.R79H
p.R27H
32.0-Stessman2017 T
CUL7     SSC12823chr6:
43011218-43011218
GAexonicDe novononsynonymous SNVNM_001168370
NM_014780
c.C3575T
c.C3323T
p.A1192V
p.A1108V
13.83-Lim2017 E
CUL7     AU024204chr6:
43010580-43010580
GAexonicUnknownnonsynonymous SNVNM_001168370
NM_014780
c.C3857T
c.C3605T
p.A1286V
p.A1202V
26.01.738E-5Stessman2017 T
CUL7     PN400205chr6:
43006016-43006016
GTexonicUnknownnonsynonymous SNVNM_001168370
NM_014780
c.C5014A
c.C4762A
p.L1672I
p.L1588I
29.50.0081Leblond2019 E
CUL7     PN400488chr6:
43006016-43006016
GTexonicUnknownnonsynonymous SNVNM_001168370
NM_014780
c.C5014A
c.C4762A
p.L1672I
p.L1588I
29.50.0081Leblond2019 E
CUL7     M20582chr6:
43020447-43020447
CTexonicMaternalnonsynonymous SNVNM_001168370
NM_014780
c.G236A
c.G80A
p.R79H
p.R27H
32.0-Guo2018 T
CUL7     03C15985chr6:
43010580-43010580
GAexonicUnknownnonsynonymous SNVNM_001168370
NM_014780
c.C3857T
c.C3605T
p.A1286V
p.A1202V
26.01.738E-5Stessman2017 T
CUL7     M04063chr6:
43019495-43019495
CTexonicMaternalnonsynonymous SNVNM_001168370
NM_014780
c.G839A
c.G587A
p.R280Q
p.R196Q
31.05.766E-5Guo2018 T
CUL7     SD0087.p1chr6:
43019495-43019495
CTexonicMaternalnonsynonymous SNVNM_001168370
NM_014780
c.G839A
c.G587A
p.R280Q
p.R196Q
31.05.766E-5Guo2018 T
CUL7     GX0434.p1chr6:
43012533-43012533
CTexonicMaternalstopgainNM_001168370
NM_014780
c.G3381A
c.G3129A
p.W1127X
p.W1043X
42.08.249E-6Guo2018 T
CUL7     3-0227-000chr6:
43018958-43018958
GAexonicDe novosynonymous SNVNM_001168370
NM_014780
c.C1233T
c.C981T
p.P411P
p.P327P
-2.0E-4Tammimies2015 E
CUL7     PN400499chr6:
43006016-43006016
GTexonicUnknownnonsynonymous SNVNM_001168370
NM_014780
c.C5014A
c.C4762A
p.L1672I
p.L1588I
29.50.0081Leblond2019 E
CUL7     M31878chr6:
43006661-43006661
CTexonicMaternalstopgainNM_001168370
NM_014780
c.G4611A
c.G4359A
p.W1537X
p.W1453X
42.0-Guo2018 T
CUL7     N9F2Nchr6:
43013344-43013344
CTexonicUnknownnonsynonymous SNVNM_001168370
NM_014780
c.G3095A
c.G2843A
p.R1032H
p.R948H
25.51.648E-5Stessman2017 T
CUL7     PN400564chr6:
43006016-43006016
GTexonicUnknownnonsynonymous SNVNM_001168370
NM_014780
c.C5014A
c.C4762A
p.L1672I
p.L1588I
29.50.0081Leblond2019 E
CUL7     SX0016.p1chr6:
43014308-43014308
CTexonicPaternalnonsynonymous SNVNM_001168370
NM_014780
c.G2681A
c.G2429A
p.R894Q
p.R810Q
36.0-Guo2018 T
CUL7     14698.p1chr6:
43011218-43011218
GAexonicDe novononsynonymous SNVNM_001168370
NM_014780
c.C3575T
c.C3323T
p.A1192V
p.A1108V
13.83-Ji2016 E
Krumm2015 E
Satterstrom2020 E
Wilfert2021 G
CUL7     03C16252chr6:
43018105-43018105
CAexonicUnknownnonsynonymous SNVNM_001168370
NM_014780
c.G1517T
c.G1265T
p.W506L
p.W422L
31.0-Stessman2017 T
CUL7     11888.p1chr6:
43016265-43016265
CTexonicDe novononsynonymous SNVNM_001168370
NM_014780
c.G2120A
c.G1868A
p.R707H
p.R623H
10.792.489E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
CUL7     M31830chr6:
43006061-43006061
GAexonicPaternalstopgainNM_001168370
NM_014780
c.C4969T
c.C4717T
p.R1657X
p.R1573X
45.08.27E-6Guo2018 T
CUL7     iHART3183chr6:
43017878-43017878
CTexonicMaternalstopgainNM_001168370
NM_014780
c.G1644A
c.G1392A
p.W548X
p.W464X
37.0-Ruzzo2019 G
CUL7     iHART3225chr6:
43012608-43012609
CACexonicMaternalframeshift deletionNM_001168370
NM_014780
c.3305delT
c.3053delT
p.L1102fs
p.L1018fs
--Ruzzo2019 G
CUL7     M02213chr6:
43008414-43008414
CTexonicPaternalnonsynonymous SNVNM_001168370
NM_014780
c.G4129A
c.G3877A
p.G1377S
p.G1293S
34.06.596E-5Wang2016 T
CUL7     T7X5Jchr6:
43018878-43018878
GTexonicInheritedstopgainNM_001168370
NM_014780
c.C1313A
c.C1061A
p.S438X
p.S354X
36.0-Stessman2017 T
CUL7     iHART2445chr6:
43021527-43021537
CGGCAGCCACTCexonicPaternalframeshift deletionNM_001168370c.60_69delp.P20fs--Ruzzo2019 G
CUL7     iHART3181chr6:
43017878-43017878
CTexonicMaternalstopgainNM_001168370
NM_014780
c.G1644A
c.G1392A
p.W548X
p.W464X
37.0-Ruzzo2019 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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