Variant Results

or

Results for "SETBP1"

Variant Events: 71

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

517-05-104289

chr18:
42531513-42531514

AC

A

exonic

De novo

frameshift deletion

NM_015559

c.2209delC

p.P737fs

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

SETBP1

1-0153-005

chr18:
42503911-42503911

A

G

intronic

De novo

-

Yuen2017 G

SETBP1

14012.p1

chr18:
42643634-42643634

C

T

exonic

Maternal, Unknown

stopgain

NM_015559

c.C4762T

p.R1588X

45.0

-

O’Roak2012a T
Wang2020 T

SETBP1

AU4103301

chr18:
42765393-42765393

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

SETBP1

5-0129-003

chr18:
42665118-42665118

C

T

intergenic

De novo

-

Yuen2017 G

SETBP1

Leuven2_85684736

chr18:
42533266-42533266

C

T

exonic

Unknown

nonsynonymous SNV

NM_015559

c.C3961T

p.R1321C

18.29

2.508E-5

Wang2020 T

SETBP1

SAGE_523.03

chr18:
42281646-42281646

G

A

exonic

Unknown

nonsynonymous SNV

NM_001130110
NM_015559

c.G335A
c.G335A

p.R112Q
p.R112Q

34.0

-

Wang2020 T

SETBP1

Leuven_246927

chr18:
42533267-42533267

G

T

exonic

Unknown

nonsynonymous SNV

NM_015559

c.G3962T

p.R1321L

26.2

1.673E-5

Wang2020 T

SETBP1

AU3811301

chr18:
42665238-42665238

C

T

intergenic

De novo

-

Yuen2017 G

SETBP1

AU3913302

chr18:
42502414-42502414

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

SETBP1

SanDiego_R3L9P

chr18:
42533266-42533266

C

T

exonic

Unknown

nonsynonymous SNV

NM_015559

c.C3961T

p.R1321C

18.29

2.508E-5

Wang2020 T

SETBP1

ACGC_HN0113.p1

chr18:
42530247-42530247

G

GGT

exonic

Unknown

frameshift insertion

NM_015559

c.942_943insGT

p.L314fs

-

Wang2020 T

SETBP1

Radboud_10-12452

chr18:
42533267-42533267

G

T

exonic

Unknown

nonsynonymous SNV

NM_015559

c.G3962T

p.R1321L

26.2

1.673E-5

Wang2020 T

SETBP1

7-0094-003

chr18:
42276293-42276293

C

T

intronic

De novo

-

Trost2022 G

SETBP1

4-0046-004

chr18:
42313181-42313181

A

G

intronic

De novo

-

Trost2022 G

SETBP1

AU2029301

chr18:
42689736-42689736

A

G

intergenic

De novo

-

Yuen2017 G

SETBP1

Hu2022:54

chr18:
42531731-42531731

A

G

exonic

Paternal

nonsynonymous SNV

NM_015559

c.A2426G

p.Q809R

13.25

-

Hu2022 T

SETBP1

2-1315-003

chr18:
42641987-42642003

TTGTGTGTGTGTGTGTG

TTGTGTGTGTGTGTG

intronic

De novo

-

Yuen2017 G

SETBP1

5-5065-003

chr18:
42370897-42370897

A

T

intronic

De novo

-

Trost2022 G

SETBP1

1-1005-005A

chr18:
42390906-42390906

A

T

intronic

De novo

-

Trost2022 G

SETBP1

MSSNG00007-003A

chr18:
42361668-42361668

T

C

intronic

De novo

-

Trost2022 G

SETBP1

J4K7A_01

chr18:
42365959-42365959

C

T

intronic

De novo

-

Trost2022 G

SETBP1

SF0081761.p1

chr18:
42532129-42532129

C

T

exonic

nonsynonymous SNV

NM_015559

c.C2824T

p.R942W

14.05

3.301E-5

Wang2020 T

SETBP1

3-0833-000

chr18:
42335149-42335149

A

T

intronic

De novo

-

Trost2022 G

SETBP1

PN400209

chr18:
42532265-42532265

G

A

exonic

Unknown

nonsynonymous SNV

NM_015559

c.G2960A

p.R987Q

21.9

8.241E-6

Leblond2019 E

SETBP1

SF0056870.p1

chr18:
42529892-42529892

G

A

exonic

nonsynonymous SNV

NM_015559

c.G587A

p.G196D

14.76

-

Wang2020 T

SETBP1

MSSNG00391-003

chr18:
42344105-42344105

T

C

intronic

De novo

-

Trost2022 G

SETBP1

MT_48.3

chr18:
42314737-42314737

C

T

intronic

De novo

-

Trost2022 G

SETBP1

MSSNG00014-003

chr18:
42326292-42326292

C

T

intronic

De novo

-

Trost2022 G

SETBP1

R3L9P

chr18:
42533266-42533266

C

T

exonic

Unknown

nonsynonymous SNV

NM_015559

c.C3961T

p.R1321C

18.29

2.508E-5

Stessman2017 T

SETBP1

1-0153-005A

chr18:
42503911-42503911

A

G

intronic

De novo

-

Trost2022 G

SETBP1

12933.p1

Complex Event; expand row to view variants

De novo

nonsynonymous SNV, frameshift insertion, frameshift substitution

NM_015559
NM_015559
NM_015559
NM_015559
NM_015559

c.2718dupG
c.C2717G
c.2717_2717delinsGG
c.2716_2717insGG
c.2716_2716delinsGGCCATTGG

p.P906fs
p.P906R
N/A
p.P906fs
N/A

11.58

-

Iossifov2014 E
Iossifov2014 E
Ji2016 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Willsey2013 E
Zhou2022 GE

SETBP1

2-1106-004

chr18:
42507630-42507630

T

G

intronic

De novo

-

Trost2022 G

SETBP1

SJD_79.3

chr18:
42468304-42468304

T

C

intronic

De novo

-

Trost2022 G

SETBP1

MSSNG00067-003

chr18:
42500599-42500599

G

A

intronic

De novo

-

Trost2022 G

SETBP1

160025

chr18:
42532289-42532289

C

T

exonic

De novo

nonsynonymous SNV

NM_015559

c.C2984T

p.P995L

15.77

-

Fu2022 E

SETBP1

3-0749-000A

chr18:
42453455-42453455

T

A

intronic

De novo

-

Trost2022 G

SETBP1

4899

chr18:
42532020-42532020

T

TGG

exonic

De novo

frameshift insertion

NM_015559

c.2715_2716insGG

p.I905fs

-

Fu2022 E

SETBP1

3-0328-000

chr18:
42466920-42466920

G

A

intronic

De novo

-

Trost2022 G

SETBP1

2-1540-003

chr18:
42422753-42422753

G

A

intronic

De novo

-

Trost2022 G

SETBP1

3-0749-000A

chr18:
42451697-42451697

A

T

intronic

De novo

-

Trost2022 G

SETBP1

MSSNG00346-004

chr18:
42755687-42755687

A

C

intergenic

De novo

-

Trost2022 G

SETBP1

MSSNG00346-004

chr18:
42756040-42756040

G

A

intergenic

De novo

-

Trost2022 G

SETBP1

M10105

chr18:
42530507-42530507

G

A

exonic

Paternal

nonsynonymous SNV

NM_015559

c.G1202A

p.R401Q

32.0

1.0E-4

Guo2018 T
Wang2016 T

SETBP1

MSSNG00347-004

chr18:
42636094-42636095

CT

C

intronic

De novo

-

Trost2022 G

SETBP1

REACH000589

chr18:
42749879-42749879

A

G

intergenic

De novo

-

Trost2022 G

SETBP1

REACH000653

chr18:
42545633-42545633

A

G

intronic

De novo

-

Trost2022 G

SETBP1

2-1784-003

chr18:
42601839-42601839

T

A

intronic

De novo

-

Trost2022 G

SETBP1

4899

chr18:
42532022-42532022

C

G

exonic

De novo

nonsynonymous SNV

NM_015559

c.C2717G

p.P906R

11.58

-

Trost2022 G

SETBP1

ITAN_2018

chr18:
42532265-42532265

G

A

exonic

Paternal

nonsynonymous SNV

NM_015559

c.G2960A

p.R987Q

21.9

8.241E-6

Wang2020 T

SETBP1

MSSNG00014-004

chr18:
42537074-42537074

A

G

intronic

De novo

-

Trost2022 G

SETBP1

Hu2022:79

chr18:
42529856-42529856

G

T

exonic

Unknown

nonsynonymous SNV

NM_015559

c.G551T

p.R184M

18.94

-

Hu2022 T

SETBP1

Gecz3_41058

chr18:
42533017-42533017

G

A

exonic

Unknown

nonsynonymous SNV

NM_015559

c.G3712A

p.D1238N

34.0

8.241E-6

Wang2020 T

SETBP1

1-1131-003

chr18:
42762489-42762489

A

C

intergenic

De novo

-

Trost2022 G

SETBP1

MT_156.3

chr18:
42771400-42771400

A

G

intergenic

De novo

-

Trost2022 G

SETBP1

AU071A

chr18:
42531877-42531877

G

A

exonic

Unknown, De novo

nonsynonymous SNV

NM_015559

c.G2572A

p.E858K

23.4

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wang2020 T
Zhou2022 GE

SETBP1

1-0271-004

chr18:
42460813-42460813

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SETBP1

7-0100-004

chr18:
42450132-42450132

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SETBP1

ACGC_YN0002.p1

chr18:
42618476-42618476

G

A

exonic

Maternal

nonsynonymous SNV

NM_015559

c.G4027A

p.D1343N

32.0

-

Wang2020 T

SETBP1

SAGE_BK_709_01

chr18:
42530872-42530873

CA

C

exonic

Maternal

frameshift deletion

NM_015559

c.1568delA

p.H523fs

-

Wang2020 T

SETBP1

246927

chr18:
42533267-42533267

G

T

exonic

Unknown

nonsynonymous SNV

NM_015559

c.G3962T

p.R1321L

26.2

1.673E-5

Stessman2017 T

SETBP1

SP0056870

chr18:
42529892-42529892

G

A

exonic

De novo

nonsynonymous SNV

NM_015559

c.G587A

p.G196D

14.76

-

Fu2022 E
Trost2022 G
Zhou2022 GE

SETBP1

1-0721-003

chr18:
42531877-42531877

G

A

exonic

nonsynonymous SNV

NM_015559

c.G2572A

p.E858K

23.4

-

Zhou2022 GE

SETBP1

SP0076214

chr18:
42643487-42643487

C

T

exonic

nonsynonymous SNV

NM_015559

c.C4615T

p.P1539S

10.55

-

Zhou2022 GE

SETBP1

2-1358-003

chr18:
42763804-42763804

A

G

intergenic

De novo

-

Yuen2017 G

SETBP1

7-0171-003

chr18:
42741890-42741890

G

C

intergenic

De novo

-

Yuen2017 G

SETBP1

SP0081761

chr18:
42532129-42532129

C

T

exonic

De novo

nonsynonymous SNV

NM_015559

c.C2824T

p.R942W

14.05

3.301E-5

Fu2022 E
Trost2022 G
Zhou2022 GE

SETBP1

YN0002.p1

chr18:
42618476-42618476

G

A

exonic

Maternal

nonsynonymous SNV

NM_015559

c.G4027A

p.D1343N

32.0

-

Guo2018 T

SETBP1

2-1365-003

chr18:
42523863-42523863

G

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

SETBP1

AU4372309

chr18:
42411038-42411038

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

SETBP1

13393.p1

chr18:
42260089-42260089

T

C

upstream

De novo

-

Turner2016 G

Source Variant Information

, -

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 notes	View
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