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Results for "SETD5"

Variant Events: 67

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
SETD5     09C82351chr3:
9506330-9506330		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C2698T
c.C2404T		p.R900C
p.R802C		28.52.484E-5Stessman2017 T
SETD5     M21987chr3:
9487425-9487425		GAsplicingPaternalsplicing17.71-Guo2018 T
Stessman2017 T
Wang2016 T
SETD5     09C82352chr3:
9506330-9506330		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C2698T
c.C2404T		p.R900C
p.R802C		28.52.484E-5Stessman2017 T
SETD5     80001101629chr3:
9483280-9483280		CTexonicDe novostopgainNM_001080517
NM_001292043		c.C814T
c.C520T		p.Q272X
p.Q174X		43.0-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SETD5     08C73413chr3:
9471597-9471597		AGUTR5De novo--Fu2022 E
Satterstrom2020 E
Trost2022 G
SETD5     13576.p1chr3:
9489592-9489592		GAexonicDe novononsynonymous SNVNM_001080517
NM_001292043		c.G2005A
c.G1711A		p.G669R
p.G571R		21.4-Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
SETD5     SP0108186chr3:
9506276-9506276		CTexonicDe novostopgainNM_001080517
NM_001292043		c.C2644T
c.C2350T		p.R882X
p.R784X		46.0-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
SETD5     SP0083010chr3:
9489435-9489436		GAGexonicDe novoframeshift deletionNM_001080517
NM_001292043		c.1849delA
c.1555delA		p.S617fs
p.S519fs		--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
SETD5     SanDiego_00877-U3C4Xchr3:
9517375-9517375		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C3929T
c.C3635T		p.S1310L
p.S1212L		21.68.0E-4Wang2020 T
SETD5     SAGE_BK770-01chr3:
9517375-9517375		CTexonicMaternalnonsynonymous SNVNM_001080517
NM_001292043		c.C3929T
c.C3635T		p.S1310L
p.S1212L		21.68.0E-4Wang2020 T
SETD5     ACGC_M8509chr3:
9482197-9482197		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C625T
c.C331T		p.R209W
p.R111W		28.9-Wang2020 T
SETD5     SP0097400chr3:
9477577-9477577		CTexonicDe novononsynonymous SNVNM_001080517
NM_001292043		c.C554T
c.C221T		p.T185M
p.T74M		16.71-Trost2022 G
Zhou2022 GE
SETD5     TASC_217-14021-410chr3:
9477562-9477562		GTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.G539T
c.G206T		p.R180L
p.R69L		28.4-Wang2020 T
SETD5     ACGC_4493chr3:
9490268-9490268		GAexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.G2300A
c.G2006A		p.R767H
p.R669H		22.19.176E-6Wang2020 T
SETD5     SP0192526chr3:
9506141-9506141		CTexonicDe novononsynonymous SNVNM_001080517
NM_001292043		c.C2509T
c.C2215T		p.R837C
p.R739C		22.7-Trost2022 G
Zhou2022 GE
SETD5     AU011704chr3:
9483874-9483874		GAexonicPaternalnonsynonymous SNVNM_001080517
NM_001292043		c.G1022A
c.G728A		p.R341H
p.R243H		34.08.54E-6Stessman2017 T
SETD5     ACGC_GD0027.p1chr3:
9488972-9488972		GAexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.G1763A
c.G1469A		p.R588Q
p.R490Q		29.6-Wang2020 T
SETD5     SP0186999chr3:
9483829-9483829		TCexonicDe novononsynonymous SNVNM_001080517
NM_001292043		c.T977C
c.T683C		p.L326P
p.L228P		23.2-Trost2022 G
Zhou2022 GE
SETD5     AGRE_09C82352chr3:
9506330-9506330		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C2698T
c.C2404T		p.R900C
p.R802C		28.52.484E-5Wang2020 T
SETD5     AGRE_09C82351chr3:
9506330-9506330		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C2698T
c.C2404T		p.R900C
p.R802C		28.52.484E-5Wang2020 T
SETD5     PN400195chr3:
9475078-9475078		GAintronicUnknown--Leblond2019 E
SETD5     ACGC_GX0113.p1chr3:
9477537-9477537		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C514T
c.C181T		p.R172W
p.R61W		19.83-Wang2020 T
SETD5     Leuven_315751chr3:
9490237-9490237		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C2269T
c.C1975T		p.R757C
p.R659C		26.3-Wang2020 T
SETD5     ACGC_M13344chr3:
9512350-9512350		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C2932T
c.C2638T		p.R978W
p.R880W		18.748.281E-5Wang2020 T
SETD5     ACGC_GX0230.p1chr3:
9512350-9512350		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C2932T
c.C2638T		p.R978W
p.R880W		18.748.281E-5Wang2020 T
SETD5     ACGC_M17450chr3:
9484990-9484990		AGsplicingUnknownsplicing18.54-Wang2020 T
SETD5     M15071chr3:
9515131-9515131		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C3407T
c.C3113T		p.S1136F
p.S1038F		27.8-Stessman2017 T
SETD5     ACGC_SD0234.p1chr3:
9512350-9512350		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C2932T
c.C2638T		p.R978W
p.R880W		18.748.281E-5Wang2020 T
SETD5     Leuven2_82286659chr3:
9488800-9488800		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C1591T
c.C1297T		p.R531W
p.R433W		25.1-Wang2020 T
SETD5     1-0388-003chr3:
9443891-9443891		GCintronicDe novo--Trost2022 G
Yuen2017 G
SETD5     ACGC_M15071chr3:
9515131-9515131		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C3407T
c.C3113T		p.S1136F
p.S1038F		27.8-Wang2020 T
SETD5     SP0264997chr3:
9514959-9514959		AGexonicnonsynonymous SNVNM_001080517
NM_001292043		c.A3235G
c.A2941G		p.K1079E
p.K981E		27.88.313E-6Zhou2022 GE
SETD5     AGRE_05C51751chr3:
9512351-9512351		GAexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.G2933A
c.G2639A		p.R978Q
p.R880Q		28.93.312E-5Wang2020 T
SETD5     AGRE_05C51750chr3:
9512351-9512351		GAexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.G2933A
c.G2639A		p.R978Q
p.R880Q		28.93.312E-5Wang2020 T
SETD5     SF0108186.p1chr3:
9506276-9506276		CTexonicstopgainNM_001080517
NM_001292043		c.C2644T
c.C2350T		p.R882X
p.R784X		46.0-Wang2020 T
SETD5     SF0083010.p1chr3:
9489435-9489436		GAGexonicframeshift deletionNM_001080517
NM_001292043		c.1849delA
c.1555delA		p.S617fs
p.S519fs		--Wang2020 T
SETD5     03C16386chr3:
9483874-9483874		GAexonicPaternalnonsynonymous SNVNM_001080517
NM_001292043		c.G1022A
c.G728A		p.R341H
p.R243H		34.08.54E-6Stessman2017 T
SETD5     4-0092-003chr3:
9479988-9479988		TCintronicDe novo--Trost2022 G
SETD5     AU2792302chr3:
9528175-9528176		TATAAintergenicDe novo--Yuen2017 G
SETD5     MSSNG00406-003chr3:
9487659-9487659		TTGintronicDe novo--Trost2022 G
SETD5     217-14021-410chr3:
9477562-9477562		GTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.G539T
c.G206T		p.R180L
p.R69L		28.4-Stessman2017 T
SETD5     MSSNG00094-003chr3:
9444216-9444216		AGintronicDe novo--Trost2022 G
SETD5     1-0153-004Achr3:
9471192-9471192		ATintronicDe novo--Trost2022 G
SETD5     SSC07657chr3:
9489592-9489592		GAexonicDe novononsynonymous SNVNM_001080517
NM_001292043		c.G2005A
c.G1711A		p.G669R
p.G571R		21.4-Fu2022 E
Trost2022 G
SETD5     PN400128chr3:
9475078-9475078		GAintronicUnknown--Leblond2019 E
SETD5     TRE_2282chr3:
9517603-9517603		TTAexonicDe novoframeshift insertionNM_001080517
NM_001292043		c.4158dupA
c.3864dupA		p.L1386fs
p.L1288fs		--Fu2022 E
SETD5     NDAR_INVAR462JT4_wes1chr3:
9483388-9483388		CTexonicUnknown, De novostopgainNM_001080517
NM_001292043		c.C922T
c.C628T		p.R308X
p.R210X		44.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
SETD5     ACGC_M21987chr3:
9487425-9487425		GAsplicingPaternalsplicing17.71-Wang2020 T
SETD5     09C98906chr3:
9486949-9486949		GAexonicUnknown, De novononsynonymous SNVNM_001080517
NM_001292043		c.G1405A
c.G1111A		p.V469I
p.V371I		13.95-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Neale2012 E
O’Roak2014 T
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
SETD5     NDAR_INVAN341TAD_wes1chr3:
9517219-9517219		GCexonicUnknown, De novononsynonymous SNVNM_001080517
NM_001292043		c.G3773C
c.G3479C		p.S1258T
p.S1160T		13.83-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE
SETD5     Hu2022:80chr3:
9512347-9512347		TAexonicPaternalnonsynonymous SNVNM_001080517
NM_001292043		c.T2929A
c.T2635A		p.F977I
p.F879I		16.19-Hu2022 T
SETD5     REACH000258chr3:
9483360-9483360		AGexonicDe novononsynonymous SNVNM_001080517
NM_001292043		c.A894G
c.A600G		p.I298M
p.I200M		18.23-Trost2022 G
Zhou2022 GE
SETD5     SP0140723chr3:
9517662-9517662		TAexonicnonsynonymous SNVNM_001080517
NM_001292043		c.T4216A
c.T3922A		p.S1406T
p.S1308T		13.3-Zhou2022 GE
SETD5     Uddin2014:5chr3:
9490270-9490270		CTexonicDe novostopgainNM_001080517
NM_001292043		c.C2302T
c.C2008T		p.R768X
p.R670X		46.0-Uddin2014 E
SETD5     Leuven_233622chr3:
9488755-9488755		GAexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.G1546A
c.G1252A		p.E516K
p.E418K		32.01.0E-4Wang2020 T
SETD5     AGRE_AU011704chr3:
9483874-9483874		GAexonicPaternalnonsynonymous SNVNM_001080517
NM_001292043		c.G1022A
c.G728A		p.R341H
p.R243H		34.08.54E-6Wang2020 T
SETD5     AGRE_03C16386chr3:
9483874-9483874		GAexonicPaternalnonsynonymous SNVNM_001080517
NM_001292043		c.G1022A
c.G728A		p.R341H
p.R243H		34.08.54E-6Wang2020 T
SETD5     SP0039537chr3:
9510279-9510279		ACintronicDe novo--Fu2022 E
SETD5     315751chr3:
9490237-9490237		CTexonicUnknownnonsynonymous SNVNM_001080517
NM_001292043		c.C2269T
c.C1975T		p.R757C
p.R659C		26.3-Stessman2017 T
SETD5     G01-GEA-30-HIchr3:
9516163-9516167		AGAAGAexonicDe novoframeshift deletionNM_001080517
NM_001292043		c.3529_3532del
c.3235_3238del		p.E1177fs
p.E1079fs		--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
SETD5     Mahjani2021:112chr3:
9483280-9483280		CTexonicstopgainNM_001080517
NM_001292043		c.C814T
c.C520T		p.Q272X
p.Q174X		43.0-Mahjani2021 E
SETD5     SP0056725chr3:
9476315-9476315		GAintronicDe novo--Fu2022 E
Trost2022 G
SETD5     Mahjani2021:111chr3:
9482170-9482170		GTexonicstopgainNM_001080517
NM_001292043		c.G598T
c.G304T		p.E200X
p.E102X		42.0-Mahjani2021 E
SETD5     1-0153-004chr3:
9471192-9471192		ATintronicDe novo--Yuen2017 G
SETD5     ITAN_2282chr3:
9517603-9517603		TTAexonicDe novoframeshift insertionNM_001080517
NM_001292043		c.4158dupA
c.3864dupA		p.L1386fs
p.L1288fs		--Wang2020 T
SETD5     ER14209chr3:
9490270-9490270		CTexonicDe novostopgainNM_001080517
NM_001292043		c.C2302T
c.C2008T		p.R768X
p.R670X		46.0-O’Roak2014 T
SETD5     PN400194chr3:
9475078-9475078		GAintronicUnknown--Leblond2019 E
Source Variant Information

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Paper alias:

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Paper Information
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Technology
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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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