Variant Results

or

Results for "UBR3"

Variant Events: 44

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

UBR3

4-0062-003

chr2:
170752058-170752058

T

TGGAG

intronic

De novo

-

Trost2022 G

UBR3

3-0111-000

chr2:
170882921-170882925

TACAA

T

intronic

De novo

-

Yuen2016 G

UBR3

2-0304-004

chr2:
170761296-170761297

GA

G

intronic

De novo

-

Trost2022 G

UBR3

6238

chr2:
170732427-170732429

CAA

C

exonic

De novo

frameshift deletion

NM_172070

c.813_814del

p.T271fs

-

Fu2022 E
Trost2022 G

UBR3

AU2207301

chr2:
170744442-170744442

A

G

intronic

De novo

-

Trost2022 G

UBR3

MT_95.3

chr2:
170749508-170749508

A

G

intronic

De novo

-

Trost2022 G

UBR3

H3E8D_01

Complex Event; expand row to view variants

De novo

-

Trost2022 G
Trost2022 G

UBR3

12161.p1

Complex Event; expand row to view variants

De novo

frameshift deletion, nonframeshift deletion, nonsynonymous SNV, frameshift substitution, synonymous SNV

NM_172070
NM_172070
NM_172070
NM_172070
NM_172070

c.813_814del
c.A813C
c.A815C
c.813_815C
c.813_815del

p.T271fs
p.T271T
p.N272T
N/A
p.271_272del

14.74

-

Dong2014 E
Iossifov2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

UBR3

2-1429-004

chr2:
170824879-170824879

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR3

2-1349-003

chr2:
170739514-170739514

A

G

intronic

De novo

-

Trost2022 G

UBR3

REACH000322

chr2:
170689766-170689766

C

T

intronic

De novo

-

Trost2022 G

UBR3

2-0305-004

chr2:
170830700-170830700

T

TGA

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR3

5-5153-003

chr2:
170727421-170727421

C

T

intronic

De novo

-

Trost2022 G

UBR3

3-0777-000

chr2:
170884172-170884172

C

T

intronic

De novo

-

Trost2022 G

UBR3

11931.p1

chr2:
170885884-170885884

C

T

exonic

De novo

synonymous SNV

NM_172070

c.C4482T

p.H1494H

9.022

-

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

UBR3

12009.p1

chr2:
170929937-170929940

GGAA

G

exonic

De novo

nonframeshift deletion

NM_172070

c.5020_5022del

p.1674_1674del

-

1.652E-5

Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

UBR3

SSC03868

chr2:
170929937-170929940

GGAA

G

exonic

De novo

nonframeshift deletion

NM_172070

c.5020_5022del

p.1674_1674del

-

1.652E-5

Fu2022 E
Trost2022 G

UBR3

2-1731-003

chr2:
170833708-170833709

AT

A

intronic

De novo

-

Trost2022 G

UBR3

35905

chr2:
170885884-170885884

C

T

exonic

De novo

synonymous SNV

NM_172070

c.C4482T

p.H1494H

9.022

-

Fu2022 E
Trost2022 G

UBR3

Wang2023:576

chr2:
170684247-170684247

C

G

exonic

De novo

nonsynonymous SNV

NM_172070

c.C230G

p.A77G

10.73

-

Wang2023 E

UBR3

MSSNG00338-004

chr2:
170875354-170875355

AT

A

intronic

De novo

-

Trost2022 G

UBR3

1-0672-003

chr2:
170780365-170780365

T

G

intronic

De novo

-

Trost2022 G

UBR3

MSSNG00354-004

chr2:
170792183-170792183

G

A

intronic

De novo

-

Trost2022 G

UBR3

1-0458-004

chr2:
170819866-170819866

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR3

AU3891304

chr2:
170858850-170858850

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR3

1-0253-004

chr2:
170906669-170906669

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR3

AU4029301

chr2:
170703496-170703496

C

A

intronic

De novo

-

Yuen2017 G

UBR3

AU4344301

chr2:
170844366-170844366

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR3

AU4159302

chr2:
170933207-170933207

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR3

SSC03933

chr2:
170732427-170732429

CAA

C

exonic

frameshift deletion

NM_172070

c.813_814del

p.T271fs

-

Antaki2022 GE

UBR3

1-0107-003

chr2:
170810733-170810733

G

C

intronic

De novo

-

Yuen2017 G

UBR3

1-0834-003

chr2:
171010373-171010373

T

C

intergenic

De novo

-

Yuen2017 G

UBR3

2-1632-003

chr2:
170905650-170905650

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR3

SP0123311

chr2:
170683998-170683998

C

G

upstream

De novo

-

Fu2022 E
Trost2022 G

UBR3

SP0073952

chr2:
170897416-170897416

T

G

exonic

De novo

synonymous SNV

NM_172070

c.T4581G

p.P1527P

10.63

-

Fu2022 E

UBR3

2-1335-004

chr2:
170964651-170964651

G

A

intergenic

De novo

-

Yuen2017 G

UBR3

AU058104

chr2:
170926102-170926102

T

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR3

AU3052303

chr2:
171014160-171014166

GCATCAT

GCAT

intergenic

De novo

-

Yuen2017 G

UBR3

12532.p1

chr2:
170814915-170814915

T

G

intronic

Mosaic

-

Dou2017 E

UBR3

SP0009287

chr2:
170684314-170684317

GGGC

G

exonic

De novo

nonframeshift deletion

NM_172070

c.298_300del

p.100_100del

-

3.0E-4

Feliciano2019 E
Trost2022 G

UBR3

AU072904

chr2:
170958142-170958142

C

T

intergenic

De novo

-

Yuen2017 G

UBR3

2-1213-003

chr2:
170697147-170697147

C

A

intronic

De novo

-

Yuen2017 G

UBR3

3-0819-000

chr2:
170686657-170686657

C

T

intronic

De novo

-

Trost2022 G

UBR3

21684-34154

chr2:
170885854-170885854

A

G

splicing

Inherited

splicing

19.71

-

Callaghan2019 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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