Variant Results

or

Results for "EP300"

Variant Events: 40

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

EP300

TRE_2079

chr22:
41542736-41542736

A

G

intronic

De novo

-

Fu2022 E

EP300

SSC09043

chr22:
41527552-41527552

G

A

exonic

De novo

synonymous SNV

NM_001429

c.G1443A

p.P481P

-

2.0E-4

Fu2022 E
Trost2022 G

EP300

SP0035008

chr22:
41551055-41551055

C

T

exonic

nonsynonymous SNV

NM_001429

c.C3199T

p.R1067C

24.2

8.236E-6

Zhou2022 GE

EP300

SSC04797

chr22:
41572350-41572350

C

T

exonic

De novo

nonsynonymous SNV

NM_001429

c.C4879T

p.R1627W

15.53

-

Fu2022 E
Lim2017 E
Trost2022 G

EP300

F1-003

chr22:
41513727-41513727

G

A

exonic

Paternal

nonsynonymous SNV

NM_001429

c.G631A

p.G211S

17.3

0.0054

Vaags2012 E

EP300

SP0077053

chr22:
41488954-41488954

A

C

UTR5

De novo

-

Fu2022 E

EP300

SP0137125

chr22:
41574267-41574267

A

C

exonic

De novo

nonsynonymous SNV

NM_001429

c.A6552C

p.R2184S

5.59

-

Fu2022 E
Zhou2022 GE

EP300

Miyake2023:25744

chr22:
41572254-41572254

T

G

exonic

De novo

nonsynonymous SNV

NM_001429

c.T4783G

p.F1595V

16.81

-

Miyake2023 E

EP300

Zhang2023:ASD0061

chr22:
41565576-41565576

T

G

exonic

De novo

stopgain

NM_001429

c.T4242G

p.Y1414X

51.0

-

Zhang2023 G

EP300

GEA362

chr22:
41572254-41572254

T

G

exonic

De novo

nonsynonymous SNV

NM_001429

c.T4783G

p.F1595V

16.81

-

Fu2022 E

EP300

SP0003744

chr22:
41527338-41527338

C

CT

intronic

De novo

-

Fu2022 E

EP300

7-0219-003

chr22:
41574883-41574883

G

A

exonic

De novo

nonsynonymous SNV

NM_001429

c.G7168A

p.A2390T

13.85

6.607E-5

Yuen2017 G
Zhou2022 GE

EP300

4286_18au

chr22:
41572680-41572680

C

A

intronic

De novo

-

Fu2022 E

EP300

MSSNG00196-003

chr22:
41553265-41553268

CGAT

C

exonic

De novo

nonframeshift deletion

NM_001429

c.3355_3357del

p.1119_1119del

-

Trost2022 G
Zhou2022 GE

EP300

1-0290-003

chr22:
41553858-41553861

GTAA

G

intronic

De novo

-

Yuen2017 G

EP300

1-0193-003

chr22:
41539391-41539391

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

EP300

SP0160401

chr22:
41573347-41573348

AC

A

exonic

frameshift deletion

NM_001429

c.5633delC

p.T1878fs

-

Zhou2022 GE

EP300

2-1339-003

chr22:
41531282-41531282

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

EP300

SP0223738

chr22:
41536173-41536173

C

G

exonic

nonsynonymous SNV

NM_001429

c.C1790G

p.P597R

29.6

-

Zhou2022 GE

EP300

13704.p1

chr22:
41527552-41527552

G

A

exonic

De novo

synonymous SNV

NM_001429

c.G1443A

p.P481P

-

2.0E-4

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

EP300

2-1325-003

chr22:
41517768-41517768

A

G

intronic

De novo

-

Yuen2016 G
Yuen2017 G

EP300

12693.p1

chr22:
41572350-41572350

C

T

exonic

De novo

nonsynonymous SNV

NM_001429

c.C4879T

p.R1627W

15.53

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

EP300

DEASD_0130_001

chr22:
41564872-41564872

G

GT

splicing

De novo

splicing

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

EP300

14482.p1

chr22:
41560947-41560947

G

A

intronic

De novo

-

Turner2016 G

EP300

152107

chr22:
41513754-41513754

A

T

exonic

De novo

nonsynonymous SNV

NM_001429

c.A658T

p.T220S

15.31

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

EP300

2-1323-003

chr22:
41556444-41556444

A

C

intronic

De novo

-

Yuen2017 G

EP300

AU046904

chr22:
41559174-41559174

T

C

intronic

De novo

-

Trost2022 G

EP300

MSSNG00027-003

chr22:
41555223-41555223

C

A

intronic

De novo

-

Trost2022 G

EP300

MT_40.3

chr22:
41506688-41506688

G

A

intronic

De novo

-

Trost2022 G

EP300

1-1191-003

chr22:
41491539-41491539

C

T

intronic

De novo

-

Trost2022 G

EP300

1-1138-003

chr22:
41489653-41489653

T

C

intronic

De novo

-

Trost2022 G

EP300

REACH000504

chr22:
41525991-41525996

TAAGAG

T

exonic

De novo

frameshift deletion

NM_001429

c.1267_1271del

p.K423fs

-

Antaki2022 GE
Trost2022 G
Zhou2022 GE

EP300

SP0011488

chr22:
41537122-41537122

C

G

exonic

De novo

nonsynonymous SNV

NM_001429

c.C1949G

p.T650S

14.81

-

Fu2022 E
Zhou2022 GE

EP300

SP0046531

chr22:
41573889-41573890

CA

C

exonic

De novo

frameshift deletion

NM_001429

c.6175delA

p.R2059fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

EP300

SP0134668

chr22:
41573528-41573528

C

T

exonic

De novo

nonsynonymous SNV

NM_001429

c.C5813T

p.T1938M

8.37

-

Fu2022 E
Zhou2022 GE

EP300

SP0012465

chr22:
41573458-41573458

C

T

exonic

De novo

stopgain

NM_001429

c.C5743T

p.Q1915X

53.0

-

Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE

EP300

SP0053332

chr22:
41566535-41566535

T

G

exonic

De novo

nonsynonymous SNV

NM_001429

c.T4412G

p.L1471R

18.42

-

Fu2022 E
Zhou2022 GE

EP300

1-0112-003

chr22:
41566952-41566952

C

A

intronic

De novo

-

Trost2022 G

EP300

1-0112-003

chr22:
41566946-41566947

CA

TG

intronic

De novo

-

Trost2022 G

EP300

7-0233-004

chr22:
41562086-41562086

G

T

intronic

De novo

-

Trost2022 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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