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Results for "CUL7"

Variant Events: 56

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     PN400372chr6:
43006016-43006016		GTexonicUnknownnonsynonymous SNVNM_001168370
NM_014780		c.C5014A
c.C4762A		p.L1672I
p.L1588I		29.50.0081Leblond2019 E
CUL7     5-5231-003chr6:
43019495-43019495		CTexonicDe novononsynonymous SNVNM_001168370
NM_014780		c.G839A
c.G587A		p.R280Q
p.R196Q		31.05.766E-5Trost2022 G
Zhou2022 GE
CUL7     SP0008104chr6:
43008156-43008156		AGexonicDe novosynonymous SNVNM_001168370
NM_014780		c.T4284C
c.T4032C		p.L1428L
p.L1344L		--Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
CUL7     MT_34.3chr6:
43014691-43014691		AGexonicDe novononsynonymous SNVNM_001168370
NM_014780		c.T2576C
c.T2324C		p.M859T
p.M775T		15.79-Trost2022 G
Zhou2022 GE
CUL7     3-0029-000chr6:
43008889-43008889		TAintronicDe novo--Trost2022 G
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-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
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
Fu2022 E
Trost2022 G
Zhou2022 GE
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     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     AU024204chr6:
43010580-43010580		GAexonicUnknownnonsynonymous SNVNM_001168370
NM_014780		c.C3857T
c.C3605T		p.A1286V
p.A1202V		26.01.738E-5Stessman2017 T
CUL7     PN400488chr6:
43006016-43006016		GTexonicUnknownnonsynonymous SNVNM_001168370
NM_014780		c.C5014A
c.C4762A		p.L1672I
p.L1588I		29.50.0081Leblond2019 E
CUL7     03C15985chr6:
43010580-43010580		GAexonicUnknownnonsynonymous SNVNM_001168370
NM_014780		c.C3857T
c.C3605T		p.A1286V
p.A1202V		26.01.738E-5Stessman2017 T
CUL7     GX0434.p1chr6:
43012533-43012533		CTexonicMaternalstopgainNM_001168370
NM_014780		c.G3381A
c.G3129A		p.W1127X
p.W1043X		42.08.249E-6Guo2018 T
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     03C16252chr6:
43018105-43018105		CAexonicUnknownnonsynonymous SNVNM_001168370
NM_014780		c.G1517T
c.G1265T		p.W506L
p.W422L		31.0-Stessman2017 T
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     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
CUL7     11888_p1chr6:
43016265-43016265		CTexonicDe novononsynonymous SNVNM_001168370
NM_014780		c.G2120A
c.G1868A		p.R707H
p.R623H		10.792.489E-5Fu2022 E
CUL7     M01703chr6:
43017322-43017322		GAexonicPaternalstopgainNM_001168370
NM_014780		c.C1900T
c.C1648T		p.R634X
p.R550X		39.08.237E-6Guo2018 T
Wang2016 T
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--Trost2022 G
Yuen2017 G
CUL7     111302chr6:
43008300-43008300		GCexonicnonsynonymous SNVNM_001168370
NM_014780		c.C4243G
c.C3991G		p.L1415V
p.L1331V		22.3-Woodbury-Smith2022 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     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     SSC12823chr6:
43011218-43011218		GAexonicDe novononsynonymous SNVNM_001168370
NM_014780		c.C3575T
c.C3323T		p.A1192V
p.A1108V		13.83-Fu2022 E
Lim2017 E
Trost2022 G
CUL7     AU3777302chr6:
43017878-43017878		CTexonicMaternalstopgainNM_001168370
NM_014780		c.G1644A
c.G1392A		p.W548X
p.W464X		37.0-Cirnigliaro2023 G
CUL7     AU3777301chr6:
43017878-43017878		CTexonicMaternalstopgainNM_001168370
NM_014780		c.G1644A
c.G1392A		p.W548X
p.W464X		37.0-Cirnigliaro2023 G
CUL7     PN400205chr6:
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     AU3906301chr6:
43012608-43012609		CACexonicMaternalframeshift deletionNM_001168370
NM_014780		c.3305delT
c.3053delT		p.L1102fs
p.L1018fs		--Cirnigliaro2023 G
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     3-0227-000chr6:
43018958-43018958		GAexonicDe novosynonymous SNVNM_001168370
NM_014780		c.C1233T
c.C981T		p.P411P
p.P327P		-2.0E-4Tammimies2015 E
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
Zhou2022 GE
CUL7     mAGRE2445chr6:
43021527-43021537		CGGCAGCCACTCexonicPaternalframeshift deletionNM_001168370c.60_69delp.P20fs--Cirnigliaro2023 G
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
Trost2022 G
Wilfert2021 G
Zhou2022 GE
CUL7     M02213chr6:
43008414-43008414		CTexonicPaternalnonsynonymous SNVNM_001168370
NM_014780		c.G4129A
c.G3877A		p.G1377S
p.G1293S		34.06.596E-5Wang2016 T
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
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