Variant Results

or

Results for "UBE3A"

Variant Events: 32

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

UBE3A

13873.p1

chr15:
25615808-25615808

T

C

exonic

De novo

nonsynonymous SNV

NM_130838
NM_130839
NM_000462

c.A1453G
c.A1513G
c.A1522G

p.T485A
p.T505A
p.T508A

12.88

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Zhou2022 GE

UBE3A

AU4394302

chr15:
25902152-25902152

T

G

intergenic

De novo

-

Yuen2017 G

UBE3A

MAC1413

chr15:
25584334-25584336

CTT

C

exonic

De novo

frameshift deletion

NM_130838
NM_130839
NM_000462

c.2507_2508del
c.2567_2568del
c.2576_2577del

p.K836fs
p.K856fs
p.K859fs

-

Fu2022 E

UBE3A

SSC09344

chr15:
25615808-25615808

T

C

exonic

De novo

nonsynonymous SNV

NM_130838
NM_130839
NM_000462

c.A1453G
c.A1513G
c.A1522G

p.T485A
p.T505A
p.T508A

12.88

-

Fu2022 E
Lim2017 E

UBE3A

AU2427303

chr15:
25705187-25705187

T

C

intergenic

De novo

-

Yuen2017 G

UBE3A

1-0699-003

chr15:
25661238-25661238

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBE3A

Chen2021:75

chr15:
25584333-25584337

TCTTT

T

exonic

Maternal

frameshift deletion

NM_130838
NM_130839
NM_000462

c.2506_2509del
c.2566_2569del
c.2575_2578del

p.K836fs
p.K856fs
p.K859fs

-

Chen2021 GET

UBE3A

1-0495-003

chr15:
25812013-25812013

C

T

intergenic

De novo

-

Yuen2017 G

UBE3A

B0839

chr15:
25615824-25615824

G

T

exonic

De novo

stopgain

NM_130838
NM_130839
NM_000462

c.C1437A
c.C1497A
c.C1506A

p.Y479X
p.Y499X
p.Y502X

42.0

-

Xiong2019 ET

UBE3A

B0043

chr15:
25584333-25584337

TCTTT

T

exonic

De novo

frameshift deletion

NM_130838
NM_130839
NM_000462

c.2506_2509del
c.2566_2569del
c.2575_2578del

p.K836fs
p.K856fs
p.K859fs

-

Xiong2019 ET

UBE3A

AU073005

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Yuen2017 G

UBE3A

1-0248-003

chr15:
25709860-25709860

A

G

intergenic

De novo

-

Yuen2017 G

UBE3A

1-0404-003

chr15:
25676592-25676592

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBE3A

Schaaf2011:90

chr15:
25615823-25615823

T

A

exonic

Unknown

nonsynonymous SNV

NM_130838
NM_130839
NM_000462

c.A1438T
c.A1498T
c.A1507T

p.S480C
p.S500C
p.S503C

19.65

-

Schaaf2011 T

UBE3A

Schaaf2011:91

chr15:
25616729-25616729

C

T

exonic

Unknown

nonsynonymous SNV

NM_130838
NM_130839
NM_000462

c.G532A
c.G592A
c.G601A

p.A178T
p.A198T
p.A201T

11.94

0.0123

Schaaf2011 T

UBE3A

AU047703

chr15:
25748368-25748368

T

G

intergenic

De novo

-

Yuen2017 G

UBE3A

Chen2021:21

chr15:
25615824-25615824

G

T

exonic

De novo

stopgain

NM_130838
NM_130839
NM_000462

c.C1437A
c.C1497A
c.C1506A

p.Y479X
p.Y499X
p.Y502X

42.0

-

Chen2021 GET

UBE3A

Schaaf2011:92

chr15:
25616810-25616810

T

C

exonic

Unknown

nonsynonymous SNV

NM_130838
NM_130839
NM_000462

c.A451G
c.A511G
c.A520G

p.T151A
p.T171A
p.T174A

10.38

-

Schaaf2011 T

UBE3A

Schaaf2011:93

chr15:
25620717-25620717

T

G

exonic

Unknown

nonsynonymous SNV

NM_130838
NM_130839
NM_000462

c.A196C
c.A256C
c.A265C

p.K66Q
p.K86Q
p.K89Q

29.1

-

Schaaf2011 T

UBE3A

Schaaf2011:99

chr15:
25616750-25616756

CCTTTTC

C

exonic

Unknown

nonframeshift deletion

NM_130838
NM_130839
NM_000462

c.505_510del
c.565_570del
c.574_579del

p.169_170del
p.189_190del
p.192_193del

-

Schaaf2011 T

UBE3A

2-0214-004

chr15:
25619695-25619695

C

CA

intronic

De novo

-

Yuen2017 G

UBE3A

2-1212-003

chr15:
25804780-25804780

C

A

intergenic

De novo

-

Yuen2017 G

UBE3A

MSSNG00245-003

chr15:
25597338-25597338

T

TAAAC

intronic

De novo

-

Trost2022 G

UBE3A

1-1054-003

chr15:
25599299-25599302

TAAC

T

intronic

De novo

-

Trost2022 G

UBE3A

AU3857301

chr15:
25786501-25786501

T

A

intergenic

De novo

-

Yuen2017 G

UBE3A

1-0144-005

chr15:
25612016-25612016

C

T

intronic

De novo

-

Yuen2017 G

UBE3A

AU3632301

chr15:
25902377-25902377

C

T

intergenic

De novo

-

Yuen2017 G

UBE3A

AU3451301

chr15:
25624202-25624202

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBE3A

1-0591-003

chr15:
25862330-25862330

C

T

intergenic

De novo

-

Yuen2017 G

UBE3A

1-0079-003

chr15:
25583531-25583531

G

GAAAC

UTR3

De novo

-

Yuen2017 G

UBE3A

Yin2020:029

chr15:
25585300-25585300

G

C

exonic

nonsynonymous SNV

NM_130838
NM_130839
NM_000462

c.C2370G
c.C2430G
c.C2439G

p.D790E
p.D810E
p.D813E

26.1

-

Yin2020 T

UBE3A

2-1357-004

chr15:
25731472-25731472

C

G

intergenic

De novo

-

Yuen2017 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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