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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
CTexonicDe novo, UnknownstopgainNM_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
GAexonicDe novo, Unknownnonsynonymous 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
GCexonicDe novo, Unknownnonsynonymous 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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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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