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Results for "SETBP1"

Variant Events: 41

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
SETBP1     517-05-104289chr18:
42531513-42531514		ACAexonicDe novoframeshift deletionNM_015559c.2209delCp.P737fs--Fu2022 E
Satterstrom2020 E
SETBP1     1-0153-005chr18:
42503911-42503911		AGintronicDe novo--Yuen2017 G
SETBP1     Hu2022:79chr18:
42529856-42529856		GTexonicUnknownnonsynonymous SNVNM_015559c.G551Tp.R184M18.94-Hu2022 T
SETBP1     14012.p1chr18:
42643634-42643634		CTexonicUnknown, MaternalstopgainNM_015559c.C4762Tp.R1588X45.0-O’Roak2012a T
Wang2020 T
SETBP1     Gecz3_41058chr18:
42533017-42533017		GAexonicUnknownnonsynonymous SNVNM_015559c.G3712Ap.D1238N34.08.241E-6Wang2020 T
SETBP1     AU4103301chr18:
42765393-42765393		CTintergenicDe novo--Yuen2017 G
SETBP1     AU071Achr18:
42531877-42531877		GAexonicDe novo, Unknownnonsynonymous SNVNM_015559c.G2572Ap.E858K23.4-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wang2020 T
SETBP1     5-0129-003chr18:
42665118-42665118		CTintergenicDe novo--Yuen2017 G
SETBP1     Leuven2_85684736chr18:
42533266-42533266		CTexonicUnknownnonsynonymous SNVNM_015559c.C3961Tp.R1321C18.292.508E-5Wang2020 T
SETBP1     SAGE_523.03chr18:
42281646-42281646		GAexonicUnknownnonsynonymous SNVNM_001130110
NM_015559		c.G335A
c.G335A		p.R112Q
p.R112Q		34.0-Wang2020 T
SETBP1     Leuven_246927chr18:
42533267-42533267		GTexonicUnknownnonsynonymous SNVNM_015559c.G3962Tp.R1321L26.21.673E-5Wang2020 T
SETBP1     AU3811301chr18:
42665238-42665238		CTintergenicDe novo--Yuen2017 G
SETBP1     AU3913302chr18:
42502414-42502414		GAintronicDe novo--Yuen2017 G
SETBP1     SanDiego_R3L9Pchr18:
42533266-42533266		CTexonicUnknownnonsynonymous SNVNM_015559c.C3961Tp.R1321C18.292.508E-5Wang2020 T
SETBP1     ACGC_HN0113.p1chr18:
42530247-42530247		GGGTexonicUnknownframeshift insertionNM_015559c.942_943insGTp.L314fs--Wang2020 T
SETBP1     1-0271-004chr18:
42460813-42460813		CTintronicDe novo--Yuen2017 G
SETBP1     7-0100-004chr18:
42450132-42450132		CTintronicDe novo--Yuen2017 G
SETBP1     ACGC_YN0002.p1chr18:
42618476-42618476		GAexonicMaternalnonsynonymous SNVNM_015559c.G4027Ap.D1343N32.0-Wang2020 T
SETBP1     SAGE_BK_709_01chr18:
42530872-42530873		CACexonicMaternalframeshift deletionNM_015559c.1568delAp.H523fs--Wang2020 T
SETBP1     Radboud_10-12452chr18:
42533267-42533267		GTexonicUnknownnonsynonymous SNVNM_015559c.G3962Tp.R1321L26.21.673E-5Wang2020 T
SETBP1     246927chr18:
42533267-42533267		GTexonicUnknownnonsynonymous SNVNM_015559c.G3962Tp.R1321L26.21.673E-5Stessman2017 T
SETBP1     SP0056870chr18:
42529892-42529892		GAexonicDe novononsynonymous SNVNM_015559c.G587Ap.G196D14.76-Fu2022 E
SETBP1     2-1358-003chr18:
42763804-42763804		AGintergenicDe novo--Yuen2017 G
SETBP1     7-0171-003chr18:
42741890-42741890		GCintergenicDe novo--Yuen2017 G
SETBP1     SP0081761chr18:
42532129-42532129		CTexonicDe novononsynonymous SNVNM_015559c.C2824Tp.R942W14.053.301E-5Fu2022 E
SETBP1     AU2029301chr18:
42689736-42689736		AGintergenicDe novo--Yuen2017 G
SETBP1     Hu2022:54chr18:
42531731-42531731		AGexonicPaternalnonsynonymous SNVNM_015559c.A2426Gp.Q809R13.25-Hu2022 T
SETBP1     2-1315-003chr18:
42641987-42642003		TTGTGTGTGTGTGTGTGTTGTGTGTGTGTGTGintronicDe novo--Yuen2017 G
SETBP1     YN0002.p1chr18:
42618476-42618476		GAexonicMaternalnonsynonymous SNVNM_015559c.G4027Ap.D1343N32.0-Guo2018 T
SETBP1     SF0081761.p1chr18:
42532129-42532129		CTexonicnonsynonymous SNVNM_015559c.C2824Tp.R942W14.053.301E-5Wang2020 T
SETBP1     PN400209chr18:
42532265-42532265		GAexonicUnknownnonsynonymous SNVNM_015559c.G2960Ap.R987Q21.98.241E-6Leblond2019 E
SETBP1     SF0056870.p1chr18:
42529892-42529892		GAexonicnonsynonymous SNVNM_015559c.G587Ap.G196D14.76-Wang2020 T
SETBP1     2-1365-003chr18:
42523863-42523863		GAintronicDe novo--Yuen2016 G
Yuen2017 G
SETBP1     R3L9Pchr18:
42533266-42533266		CTexonicUnknownnonsynonymous SNVNM_015559c.C3961Tp.R1321C18.292.508E-5Stessman2017 T
SETBP1     12933.p1 Complex Event; expand row to view variants  De novoframeshift insertion, frameshift substitution, nonsynonymous SNVNM_015559
NM_015559
NM_015559
NM_015559		c.2718dupG
c.C2717G
c.2717_2717delinsGG
c.2716_2717insGG		p.P906fs
p.P906R
N/A
p.P906fs		11.58-Iossifov2014 E
Iossifov2014 E
Ji2016 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Willsey2013 E
SETBP1     AU4372309chr18:
42411038-42411038		CTintronicDe novo--Yuen2017 G
SETBP1     160025chr18:
42532289-42532289		CTexonicDe novononsynonymous SNVNM_015559c.C2984Tp.P995L15.77-Fu2022 E
SETBP1     4899chr18:
42532020-42532020		TTGGexonicDe novoframeshift insertionNM_015559c.2715_2716insGGp.I905fs--Fu2022 E
SETBP1     13393.p1chr18:
42260089-42260089		TCupstreamDe novo--Turner2016 G
SETBP1     M10105chr18:
42530507-42530507		GAexonicPaternalnonsynonymous SNVNM_015559c.G1202Ap.R401Q32.01.0E-4Guo2018 T
Wang2016 T
SETBP1     ITAN_2018chr18:
42532265-42532265		GAexonicPaternalnonsynonymous SNVNM_015559c.G2960Ap.R987Q21.98.241E-6Wang2020 T
Source Variant Information

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Source:

Paper alias:

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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.
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