Variant Results

or

Results for "UBE3C"

Variant Events: 42

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

UBE3C

AU1988302

chr7:
156917866-156917866

G

A

intergenic

De novo

-

Yuen2017 G

UBE3C

12851.p1

chr7:
157049644-157049644

T

G

exonic

De novo

nonsynonymous SNV

NM_014671

c.T2987G

p.F996C

17.4

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012a T
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

UBE3C

1-0054-003

chr7:
157057287-157057287

A

C

intronic

De novo

-

Trost2022 G

UBE3C

MSSNG00094-003

chr7:
157020349-157020349

G

A

intronic

De novo

-

Trost2022 G

UBE3C

1-0158-003

chr7:
156836386-156836386

G

A

intergenic

De novo

-

Yuen2017 G

UBE3C

MSSNG00255-003

chr7:
157053335-157053335

T

C

intronic

De novo

-

Trost2022 G

UBE3C

A1

chr7:
156912779-156912779

A

C

intergenic

De novo

-

Wu2018 G

UBE3C

14096.p1

chr7:
156979601-156979601

A

AA

exonic

Maternal

frameshift insertion

NM_014671

c.1217dupA

p.N406fs

-

O’Roak2012a T

UBE3C

1-0009-004

chr7:
156870666-156870666

T

C

intergenic

De novo

-

Yuen2017 G

UBE3C

5316

chr7:
157041114-157041114

C

T

exonic

De novo

nonsynonymous SNV

NM_014671

c.C2534T

p.S845F

21.2

8.237E-6

Fu2022 E
Trost2022 G

UBE3C

3-0708-000

chr7:
157001092-157001093

AA

TT

intronic

De novo

-

Trost2022 G

UBE3C

7-0371-003

chr7:
157020245-157020245

A

AC

intronic

De novo

-

Trost2022 G

UBE3C

1-0998-003

chr7:
157122928-157122929

AC

ACCC

intergenic

De novo

-

Yuen2017 G

UBE3C

2-1264-003

chr7:
157041159-157041159

C

T

exonic

De novo

nonsynonymous SNV

NM_014671

c.C2579T

p.A860V

18.42

-

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

UBE3C

2-1297-003

chr7:
156922495-156922495

G

A

intergenic

De novo

-

Yuen2017 G

UBE3C

3-0456-000

chr7:
156828232-156828232

C

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

UBE3C

11006.p1

chr7:
157041114-157041114

C

T

exonic

De novo

nonsynonymous SNV

NM_014671

c.C2534T

p.S845F

21.2

8.237E-6

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012a T
O’Roak2012b E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

UBE3C

2-1456-003

chr7:
156928602-156928602

C

T

intergenic

De novo

-

Yuen2017 G

UBE3C

AU2787302

chr7:
156885479-156885479

T

C

intergenic

De novo

-

Yuen2017 G

UBE3C

mAGRE4638

chr7:
157023870-157023870

T

A

exonic

Maternal

stopgain

NM_014671

c.T2330A

p.L777X

44.0

-

Cirnigliaro2023 G

UBE3C

AU2950301

chr7:
156961114-156961114

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBE3C

3-0456-000B

chr7:
156828232-156828232

C

T

intergenic

De novo

-

Yuen2017 G

UBE3C

Lim2017:5316

chr7:
157041114-157041114

C

T

exonic

De novo

nonsynonymous SNV

NM_014671

c.C2534T

p.S845F

21.2

8.237E-6

Lim2017 E

UBE3C

SSC06297

chr7:
157049644-157049644

T

G

exonic

De novo

nonsynonymous SNV

NM_014671

c.T2987G

p.F996C

17.4

-

Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G

UBE3C

D’Gama2015:4999

chr7:
156974902-156974902

G

A

exonic

Unknown

nonsynonymous SNV

NM_014671

c.G871A

p.V291I

0.521

8.238E-5

D’Gama2015 T

UBE3C

7-0253-005

chr7:
156964126-156964126

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBE3C

SP0060927

chr7:
156932094-156932094

G

GGGACTCGGGGTTGGACTCGGGGTT

intronic

De novo

-

Fu2022 E

UBE3C

AU4235302

chr7:
156887757-156887757

G

A

intergenic

De novo

-

Yuen2017 G

UBE3C

1-0560-003

chr7:
157075021-157075021

G

C

intergenic

De novo

-

Yuen2017 G

UBE3C

1-0181-004

chr7:
157022512-157022512

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBE3C

2-1529-003

chr7:
156972539-156972539

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBE3C

AU031404

chr7:
156983304-156983304

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBE3C

2-0003-004

chr7:
156910507-156910507

G

A

intergenic

De novo

-

Yuen2017 G

UBE3C

2-0285-003

chr7:
156845024-156845024

G

A

intergenic

De novo

-

Yuen2017 G

UBE3C

MSSNG00232-003

chr7:
156976189-156976189

C

CCCT

intronic

De novo

-

Trost2022 G

UBE3C

AU2604301

chr7:
156996099-156996099

G

GT

intronic

De novo

-

Trost2022 G

UBE3C

AU3911301

chr7:
156871426-156871426

A

T

intergenic

De novo

-

Yuen2017 G

UBE3C

MSSNG00101-003

chr7:
156961508-156961508

C

T

intronic

De novo

-

Trost2022 G

UBE3C

AU2975302

chr7:
156981232-156981232

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBE3C

AU3637301

chr7:
156894683-156894683

T

TATTGGCTGGGATTACAGGCTG

intergenic

De novo

-

Yuen2017 G

UBE3C

3-0833-000

chr7:
156973331-156973331

A

T

intronic

De novo

-

Trost2022 G

UBE3C

1-0187-004

chr7:
156949723-156949723

G

A

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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