Variant Results

or

or

Results for "EMSY"

Variant Events: 19

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

EMSY

7-0247-003

chr11:
76201895-76201900

AGGGGG

AGGG

intronic

De novo

-

-

Yuen2017 G

EMSY

AU3997302

chr11:
76302532-76302532

C

T

intergenic

De novo

-

-

Yuen2017 G

EMSY

AU045514

chr11:
76346132-76346132

C

T

intergenic

De novo

-

-

Yuen2017 G

EMSY

AU057405

chr11:
76173282-76173306

CATAAATAAATAAATAAATAAATAA

CATAAATAAATAAATAAATAA

intronic

De novo

-

-

Yuen2017 G

EMSY

AU1223303

chr11:
76287248-76287248

G

A

intergenic

De novo

-

-

Yuen2017 G

EMSY

2-1406-003

chr11:
76335857-76335857

C

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

EMSY

AU072004

chr11:
76274728-76274728

G

A

intergenic

De novo

-

-

Yuen2017 G

EMSY

09C86006

chr11:
76234322-76234322

T

A

exonic

De novo

stopgain

NM_001300943
NM_020193
NM_001300942
NM_001300944

c.T1811A
c.T1808A
c.T1853A
c.T1853A

p.L604X
p.L603X
p.L618X
p.L618X

39.0

-

DeRubeis2014 E
Kosmicki2017 E
Lim2017 E

EMSY

2-1330-003

chr11:
76361606-76361606

T

C

intergenic

De novo

-

-

Yuen2017 G

EMSY

5-0065-003

chr11:
76200219-76200220

AG

A

intronic

De novo

-

-

Yuen2017 G

EMSY

iHART1891

chr11:
76224429-76224429

G

C

splicing

Paternal

splicing

19.39

-

Ruzzo2019 G

EMSY

SP0015710

chr11:
76255718-76255718

C

G

exonic

De novo

nonsynonymous SNV

NM_001300943
NM_001300944
NM_020193
NM_001300942

c.C3128G
c.C3128G
c.C3125G
c.C3170G

p.T1043S
p.T1043S
p.T1042S
p.T1057S

15.18

-

Fu2022 E

EMSY

SP0055280

chr11:
76183837-76183838

CT

C

exonic

De novo

frameshift deletion

NM_001300943
NM_020193
NM_001300942
NM_001300944

c.1065delT
c.1062delT
c.1107delT
c.1107delT

p.A355fs
p.A354fs
p.A369fs
p.A369fs

-

-

Fu2022 E

EMSY

AU4410302

chr11:
76317288-76317288

C

T

intergenic

De novo

-

-

Yuen2017 G

EMSY

iHART1894

chr11:
76224429-76224429

G

C

splicing

Paternal

splicing

19.39

-

Ruzzo2019 G

EMSY

2-1735-003

chr11:
76352203-76352203

G

A

intergenic

De novo

-

-

Yuen2017 G

EMSY

AU2100302

chr11:
76205848-76205848

C

T

intronic

De novo

-

-

Yuen2017 G

EMSY

DEASD_1045_001

chr11:
76234322-76234322

T

A

exonic

De novo

stopgain

NM_001300943
NM_020193
NM_001300942
NM_001300944

c.T1811A
c.T1808A
c.T1853A
c.T1853A

p.L604X
p.L603X
p.L618X
p.L618X

39.0

-

Fu2022 E
Satterstrom2020 E

EMSY

Viggiano2022:105.3

chr11:
76255376-76255376

T

C

exonic

Paternal

nonsynonymous SNV

NM_001300943
NM_001300944
NM_020193
NM_001300942

c.T2786C
c.T2786C
c.T2783C
c.T2828C

p.M929T
p.M929T
p.M928T
p.M943T

11.54

-

Viggiano2022 GT

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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