Variant Results

or

Results for "UBR5"

Variant Events: 56

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

UBR5

SSC00124

chr8:
103307441-103307441

T

G

exonic

De novo

nonsynonymous SNV

NM_001282873
NM_015902

c.A4049C
c.A4049C

p.N1350T
p.N1350T

18.08

-

Fu2022 E
Lim2017 E
Trost2022 G

UBR5

AU2793302

chr8:
103385259-103385259

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR5

05HI4259A

chr8:
103284903-103284905

CTG

C

exonic

De novo

frameshift deletion

NM_001282873
NM_015902

c.6825_6826del
c.6825_6826del

p.H2275fs
p.H2275fs

-

Fu2022 E

UBR5

1-0019-004

chr8:
103458740-103458740

C

CCA

intergenic

De novo

-

Yuen2017 G

UBR5

2-1148-004

chr8:
103471419-103471419

C

T

intergenic

De novo

-

Yuen2017 G

UBR5

ASC_NP271

chr8:
103372851-103372851

T

C

exonic

De novo

nonsynonymous SNV

NM_001282873
NM_015902

c.A232G
c.A232G

p.R78G
p.R78G

21.4

-

Fu2022 E

UBR5

08C75913

chr8:
103284903-103284905

CTG

C

exonic

De novo

frameshift deletion

NM_001282873
NM_015902

c.6825_6826del
c.6825_6826del

p.H2275fs
p.H2275fs

-

Fu2022 E

UBR5

1-0485-003

chr8:
103524247-103524247

G

C

intergenic

De novo

-

Yuen2017 G

UBR5

08C78789

chr8:
103281231-103281231

T

C

exonic

De novo

nonsynonymous SNV

NM_001282873
NM_015902

c.A7336G
c.A7336G

p.M2446V
p.M2446V

7.667

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UBR5

PN400359

chr8:
103305948-103305948

G

A

exonic

Unknown

nonsynonymous SNV

NM_001282873
NM_015902

c.C4474T
c.C4474T

p.R1492C
p.R1492C

22.2

8.421E-6

Leblond2019 E

UBR5

14012.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001282873
NM_015902
NM_001282873
NM_015902

c.6672dupA
c.6672dupA
c.6671dupA
c.6671dupA

p.F2225fs
p.F2225fs
p.K2224fs
p.K2224fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

UBR5

AU3154301

chr8:
103323552-103323552

G

C

exonic

De novo

nonsynonymous SNV

NM_001282873
NM_015902

c.C2591G
c.C2591G

p.A864G
p.A864G

32.0

-

Cirnigliaro2023 G
Trost2022 G
Yuen2017 G
Zhou2022 GE

UBR5

AU2950301

chr8:
103434456-103434456

G

A

intergenic

De novo

-

Yuen2017 G

UBR5

302-05-103645

chr8:
103298777-103298777

T

C

exonic

De novo

nonsynonymous SNV

NM_001282873
NM_015902

c.A5026G
c.A5026G

p.S1676G
p.S1676G

19.38

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UBR5

AU2711303

chr8:
103504390-103504390

C

G

intergenic

De novo

-

Yuen2017 G

UBR5

AU3154301

chr8:
103323442-103323442

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR5

2-1429-004

chr8:
103465427-103465427

G

A

intergenic

De novo

-

Yuen2017 G

UBR5

SP0122230

chr8:
103269849-103269849

T

C

intronic

De novo

-

Fu2022 E

UBR5

11102.p1

chr8:
103307441-103307441

T

G

exonic

De novo

nonsynonymous SNV

NM_001282873
NM_015902

c.A4049C
c.A4049C

p.N1350T
p.N1350T

18.08

-

Ji2016 E
Krumm2015 E
Satterstrom2020 E
Zhou2022 GE

UBR5

3-0114-000

chr8:
103299702-103299702

C

G

exonic

De novo

nonsynonymous SNV

NM_001282873
NM_015902

c.G4916C
c.G4916C

p.R1639P
p.R1639P

33.0

-

Trost2022 G
Zhou2022 GE

UBR5

AU2618301

chr8:
103357756-103357758

GGA

G

exonic

frameshift deletion

NM_001282873
NM_015902

c.752_753del
c.752_753del

p.L251fs
p.L251fs

-

Zhou2022 GE

UBR5

AU2562301

chr8:
103305971-103305975

ACAAT

A

exonic

De novo

frameshift deletion

NM_001282873
NM_015902

c.4447_4450del
c.4447_4450del

p.I1483fs
p.I1483fs

-

Trost2022 G
Zhou2022 GE

UBR5

AU3692302

chr8:
103362869-103362869

G

A

intronic

De novo

-

Yuen2017 G

UBR5

AU4228301

chr8:
103424083-103424083

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR5

1-0330-003

chr8:
103322548-103322548

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR5

2-1266-003

chr8:
103381507-103381507

T

C

intronic

De novo

-

Yuen2017 G

UBR5

SP0068299

chr8:
103309106-103309106

T

C

intronic

De novo

-

Fu2022 E

UBR5

SP0077463

chr8:
103301896-103301896

C

G

intronic

De novo

-

Fu2022 E

UBR5

2-0110-003

chr8:
103300396-103300396

C

T

exonic

De novo

synonymous SNV

NM_001282873
NM_015902

c.G4812A
c.G4812A

p.E1604E
p.E1604E

-

Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

UBR5

iHART3086

chr8:
103323552-103323552

G

C

exonic

De novo

nonsynonymous SNV

NM_001282873
NM_015902

c.C2591G
c.C2591G

p.A864G
p.A864G

32.0

-

Ruzzo2019 G

UBR5

08C75326

chr8:
103357756-103357758

GGA

G

exonic

De novo

frameshift deletion

NM_001282873
NM_015902

c.752_753del
c.752_753del

p.L251fs
p.L251fs

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UBR5

AU1668302

chr8:
103557345-103557345

C

T

intergenic

De novo

-

Yuen2017 G

UBR5

AU4067303

chr8:
103321267-103321267

G

A

intronic

De novo

-

Yuen2017 G

UBR5

Wang2023:319

chr8:
103372354-103372354

G

A

exonic

De novo

nonsynonymous SNV

NM_001282873
NM_015902

c.C331T
c.C331T

p.P111S
p.P111S

16.34

-

Wang2023 E

UBR5

3729_17au

chr8:
103308109-103308109

G

A

intronic

De novo

-

Fu2022 E

UBR5

AU3779301

chr8:
103415152-103415152

G

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR5

AU4164301

chr8:
103537838-103537838

C

T

intergenic

De novo

-

Yuen2017 G

UBR5

MSSNG00073-003

chr8:
103264792-103264795

CATT

C

UTR3

De novo

-

Trost2022 G

UBR5

3-0795-000

chr8:
103265783-103265783

G

C

UTR3

De novo

-

Trost2022 G

UBR5

AU2562301

chr8:
103323040-103323040

G

A

intronic

De novo

-

Trost2022 G

UBR5

AU3760301

chr8:
103326849-103326849

G

A

intronic

De novo

-

Trost2022 G

UBR5

SP0195708

chr8:
103307991-103307991

T

C

exonic

De novo

nonsynonymous SNV

NM_001282873
NM_015902

c.A3685G
c.A3685G

p.T1229A
p.T1229A

23.3

-

Trost2022 G

UBR5

3-0063-000

chr8:
103318563-103318563

C

T

intronic

De novo

-

Trost2022 G

UBR5

AU2299301

chr8:
103296963-103296963

A

G

intronic

De novo

-

Trost2022 G

UBR5

2-1506-003

chr8:
103304010-103304010

G

A

intronic

De novo

-

Trost2022 G

UBR5

SP0204809

chr8:
103279186-103279186

C

A

exonic

De novo

stopgain

NM_001282873
NM_015902

c.G7411T
c.G7411T

p.E2471X
p.E2471X

52.0

-

Trost2022 G

UBR5

SP0108196

chr8:
103291407-103291407

A

G

exonic

De novo

nonsynonymous SNV

NM_001282873
NM_015902

c.T6031C
c.T6031C

p.S2011P
p.S2011P

12.51

0.003

Trost2022 G

UBR5

AU076704

chr8:
103407629-103407631

TAC

T

intronic

De novo

-

Trost2022 G

UBR5

SSC09894

chr8:
103287805-103287805

A

AT

exonic

De novo

frameshift insertion

NM_001282873
NM_015902

c.6672dupA
c.6672dupA

p.F2225fs
p.F2225fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G

UBR5

1-0553-003

chr8:
103494397-103494397

C

T

intergenic

De novo

-

Yuen2017 G

UBR5

2-1152-003

chr8:
103377185-103377185

T

G

intronic

De novo

-

Trost2022 G

UBR5

AU0780302

chr8:
103390358-103390358

T

TA

intronic

De novo

-

Trost2022 G

UBR5

3-0519-000

chr8:
103347775-103347775

T

G

intronic

De novo

-

Trost2022 G

UBR5

14-1775

chr8:
103376256-103376256

G

A

intronic

De novo

-

Trost2022 G

UBR5

1008

chr8:
103328937-103328937

T

C

intronic

De novo

-

Trost2022 G

UBR5

1-0340-004

chr8:
103339417-103339417

C

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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