Variant Results

or

Results for "UBR4"

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

UBR4

AU3912301

chr1:
19501541-19501541

T

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR4

13567.p1

chr1:
19494472-19494472

C

T

intronic

De novo

-

Satterstrom2020 E

UBR4

AU4412302

chr1:
19488721-19488721

T

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR4

200675515_1082034250

chr1:
19403354-19403354

G

C

exonic

De novo

nonsynonymous SNV

NM_020765

c.C15367G

p.L5123V

25.1

-

Fu2022 E

UBR4

35938

chr1:
19481533-19481533

C

T

exonic

De novo

nonsynonymous SNV

NM_020765

c.G6337A

p.V2113M

29.1

1.647E-5

Fu2022 E
Trost2022 G

UBR4

152307

chr1:
19455571-19455571

A

G

intronic

De novo

-

8.29E-6

Fu2022 E

UBR4

36.s1

chr1:
19480238-19480238

T

A

intronic

De novo

-

An2014 E

UBR4

ASC_18D977

chr1:
19519950-19519950

C

T

exonic

De novo

nonsynonymous SNV

NM_020765

c.G1120A

p.A374T

34.0

4.123E-5

Fu2022 E

UBR4

SJD_10

chr1:
19439148-19439148

C

A

exonic

Paternal

nonsynonymous SNV

NM_020765

c.G11671T

p.A3891S

32.0

-

Toma2013 E

UBR4

70477

chr1:
19528292-19528292

T

G

exonic

De novo

nonsynonymous SNV

NM_020765

c.A194C

p.H65P

22.4

-

Fu2022 E
Trost2022 G

UBR4

Lim2017:70477

chr1:
19528292-19528292

T

G

exonic

De novo

nonsynonymous SNV

NM_020765

c.A194C

p.H65P

22.4

-

Lim2017 E

UBR4

1-0387-003

chr1:
19463783-19463783

G

A

intronic

De novo

-

Yuen2016 G
Yuen2017 G

UBR4

Chen2017:68

chr1:
19403354-19403354

G

C

exonic

De novo

nonsynonymous SNV

NM_020765

c.C15367G

p.L5123V

25.1

-

Chen2017 E

UBR4

1-0372-003

chr1:
19403653-19403653

C

T

intronic

De novo

-

Yuen2016 G
Yuen2017 G

UBR4

1-0160-004

chr1:
19486128-19486128

A

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR4

09C87498

chr1:
19446711-19446711

G

A

exonic

De novo

nonsynonymous SNV

NM_020765

c.C10273T

p.R3425C

25.7

1.648E-5

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Zhou2022 GE

UBR4

DEASD_1032_001

chr1:
19442140-19442140

G

C

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

UBR4

SP0077200

chr1:
19488240-19488240

A

G

intronic

De novo

-

Fu2022 E
Trost2022 G

UBR4

SP0046608

chr1:
19487336-19487336

G

A

intronic

De novo

-

Fu2022 E

UBR4

SP0129673

chr1:
19488880-19488880

T

G

intronic

De novo

-

Fu2022 E

UBR4

SP0062274

chr1:
19513055-19513055

T

G

exonic

De novo

nonsynonymous SNV

NM_020765

c.A1729C

p.T577P

25.5

-

Fu2022 E
Trost2022 G
Zhou2022 GE

UBR4

SP0017096

chr1:
19510605-19510605

T

C

exonic

De novo

nonsynonymous SNV

NM_020765

c.A2003G

p.N668S

9.808

-

Fu2022 E
Trost2022 G
Zhou2022 GE

UBR4

A14

chr1:
19523436-19523436

G

A

intronic

De novo

-

Wu2018 G

UBR4

SP0029239

chr1:
19437172-19437172

T

G

intronic

De novo

-

Fu2022 E

UBR4

SP0061642

chr1:
19419281-19419281

G

A

intronic

De novo

-

Fu2022 E

UBR4

131-11-113849

chr1:
19420009-19420009

G

T

intronic

De novo

-

Satterstrom2020 E
Trost2022 G

UBR4

1-0207-005

chr1:
19477115-19477115

G

A

exonic

De novo

synonymous SNV

NM_020765

c.C7386T

p.S2462S

-

Trost2022 G
Zhou2022 GE

UBR4

AU3645301

chr1:
19449615-19449615

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR4

13118.p1

chr1:
19481533-19481533

C

T

exonic

De novo

nonsynonymous SNV

NM_020765

c.G6337A

p.V2113M

29.1

1.647E-5

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

UBR4

AGG0064

chr1:
19430735-19430735

A

G

exonic

De novo

synonymous SNV

NM_020765

c.T12744C

p.F4248F

-

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UBR4

14099.p1

chr1:
19528292-19528292

T

G

exonic

Mosaic, De novo

nonsynonymous SNV

NM_020765

c.A194C

p.H65P

22.4

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE

UBR4

MSSNG00010-003

chr1:
19443936-19443936

T

C

intronic

De novo

-

Trost2022 G

UBR4

SP0207205

chr1:
19415228-19415228

T

C

intronic

De novo

-

Trost2022 G

UBR4

2-1458-003

chr1:
19486119-19486120

GA

CG

intronic

De novo

-

Trost2022 G

UBR4

SP0213215

chr1:
19484346-19484346

C

T

exonic

De novo

nonsynonymous SNV

NM_020765

c.G5723A

p.R1908H

35.0

-

Trost2022 G

UBR4

1-0253-004

chr1:
19486383-19486387

TCCTT

CCGCGCCC

intronic

De novo

-

Trost2022 G

UBR4

2-1458-003

chr1:
19486128-19486128

A

G

intronic

De novo

-

Trost2022 G

UBR4

1-0957-003

chr1:
19456387-19456387

C

T

intronic

De novo

-

Trost2022 G

UBR4

SP0164629

chr1:
19451052-19451052

A

G

exonic

De novo

nonsynonymous SNV

NM_020765

c.T9571C

p.F3191L

25.4

-

Trost2022 G

UBR4

2-1258-003

chr1:
19485829-19485829

A

AAC

intronic

De novo

-

Trost2022 G
Yuen2017 G

UBR4

2-1776-003

chr1:
19467652-19467652

T

C

intronic

De novo

-

Trost2022 G

UBR4

5-0011-003

chr1:
19460010-19460010

T

C

intronic

De novo

-

Trost2022 G

UBR4

AU2433302

chr1:
19530450-19530452

CCT

C

intronic

De novo

-

Trost2022 G

UBR4

200675515@1082034250

chr1:
19403354-19403354

G

C

exonic

De novo

nonsynonymous SNV

NM_020765

c.C15367G

p.L5123V

25.1

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UBR4

3-0508-000

chr1:
19520922-19520922

C

T

intronic

De novo

-

Trost2022 G

UBR4

3-0719-000

chr1:
19537152-19537152

A

G

upstream

De novo

-

Trost2022 G

UBR4

G01-GEA-143-HI

chr1:
19494654-19494654

T

A

exonic

De novo

nonsynonymous SNV

NM_020765

c.A3766T

p.I1256F

20.1

-

Fu2022 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

UBR4

SSC07869

chr1:
19494472-19494472

C

T

intronic

De novo

-

Trost2022 G

UBR4

SP0189179

chr1:
19489058-19489058

A

G

exonic

De novo

synonymous SNV

NM_020765

c.T4812C

p.A1604A

-

Trost2022 G

UBR4

9190743

chr1:
19487553-19487553

A

G

exonic

De novo

nonsynonymous SNV

NM_020765

c.T5264C

p.L1755P

14.2

8.246E-6

Fu2022 E

UBR4

1-0242-003

chr1:
19505428-19505428

C

A

intronic

De novo

-

Trost2022 G

UBR4

MSSNG00351-003

chr1:
19498237-19498237

G

A

intronic

De novo

-

Trost2022 G

UBR4

1-0464-003

chr1:
19501740-19501740

T

A

intronic

De novo

-

Trost2022 G
Yuen2016 G
Yuen2017 G

UBR4

2-0126-004

chr1:
19467975-19467975

C

A

exonic

De novo

nonsynonymous SNV

NM_020765

c.G8354T

p.G2785V

18.16

-

Yuen2015 G

UBR4

SS0013000

chr1:
19528292-19528292

T

G

exonic

nonsynonymous SNV

NM_020765

c.A194C

p.H65P

22.4

-

Antaki2022 GE

UBR4

PN400487

chr1:
19408153-19408153

G

A

intronic

Unknown

22.8

2.0E-4

Leblond2019 E

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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