Variant Results

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or

Results for "USP7"

Variant Events: 23

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

USP7

2-1526-004

chr16:
9008992-9008992

A

C

intronic

De novo

-

-

Yuen2017 G

USP7

2-1526-004

chr16:
9005376-9005376

C

G

intronic

De novo

-

-

Yuen2017 G

USP7

2-1272-003

chr16:
8997984-8997984

C

T

intronic

De novo

-

-

Yuen2016 G

USP7

09C96721

chr16:
8988842-8988842

G

A

intronic

De novo

-

-

Kosmicki2017 E
Satterstrom2020 E

USP7

2-0070-004

chr16:
9143473-9143473

T

C

intergenic

De novo

-

-

Yuen2017 G

USP7

SP0123077

chr16:
9010267-9010267

G

A

intronic

De novo

-

-

Fu2022 E

USP7

2-1272-003

chr16:
9002615-9002615

C

T

intronic

De novo

-

-

Yuen2016 G

USP7

2-1160-003

chr16:
9039396-9039396

C

T

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

USP7

ASDFI_1071

chr16:
9002226-9002226

T

C

exonic

De novo

nonsynonymous SNV

NM_001286457
NM_003470
NM_001286458

c.A1195G
c.A1243G
c.A946G

p.T399A
p.T415A
p.T316A

15.79

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

USP7

Mahjani2021:117

chr16:
9009148-9009148

A

C

exonic

stopgain

NM_001286457
NM_003470
NM_001286458

c.T993G
c.T1041G
c.T744G

p.Y331X
p.Y347X
p.Y248X

38.0

-

Mahjani2021 E

USP7

GM182974

chr16:
8993373-8993373

T

G

intronic

De novo

-

-

Fu2022 E

USP7

TRE_2153

chr16:
9015055-9015055

T

C

exonic

De novo

nonsynonymous SNV

NM_001286457
NM_003470
NM_001286458

c.A433G
c.A481G
c.A184G

p.K145E
p.K161E
p.K62E

13.14

-

Fu2022 E

USP7

11697-4

chr16:
8989569-8989569

A

G

exonic

De novo

nonsynonymous SNV

NM_001286457
NM_003470
NM_001286458

c.T2801C
c.T2849C
c.T2552C

p.I934T
p.I950T
p.I851T

12.71

-

Fu2022 E

USP7

1-0186-004

chr16:
9122943-9122951

GGGATAATA

G

intergenic

De novo

-

-

Yuen2017 G

USP7

2-1529-003

chr16:
9165340-9165340

T

C

intergenic

De novo

-

-

Yuen2017 G

USP7

AU2162302

chr16:
9165589-9165589

A

G

intergenic

De novo

-

-

Yuen2017 G

USP7

1-0534-003

chr16:
8991757-8991757

A

AAAAAG

intronic

De novo

-

-

Yuen2017 G

USP7

13855.p1

chr16:
8996017-8996017

G

C

exonic

De novo

nonsynonymous SNV

NM_001286457
NM_003470
NM_001286458

c.C1921G
c.C1969G
c.C1672G

p.P641A
p.P657A
p.P558A

18.67

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E

USP7

AU017304

chr16:
9066484-9066484

C

G

intergenic

De novo

-

-

Yuen2017 G

USP7

AU012804

chr16:
9013902-9013902

T

C

intronic

De novo

-

-

Yuen2017 G

USP7

2-1176-003

chr16:
9085913-9085913

A

C

intergenic

De novo

-

-

Yuen2017 G

USP7

AU2162302

chr16:
9169392-9169392

G

C

intergenic

De novo

-

-

Yuen2017 G

USP7

1-0381-003

chr16:
9158544-9158544

G

A

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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