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Results for "USP7"

Variant Events: 19

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     2-1526-004chr16:
9008992-9008992
ACintronicDe novo--Yuen2017 G
USP7     2-1526-004chr16:
9005376-9005376
CGintronicDe novo--Yuen2017 G
USP7     2-1272-003chr16:
8997984-8997984
CTintronicDe novo--Yuen2016 G
USP7     09C96721chr16:
8988842-8988842
GAintronicDe novo--Kosmicki2017 E
Satterstrom2020 E
USP7     2-0070-004chr16:
9143473-9143473
TCintergenicDe novo--Yuen2017 G
USP7     2-1272-003chr16:
9002615-9002615
CTintronicDe novo--Yuen2016 G
USP7     2-1160-003chr16:
9039396-9039396
CTintronicDe novo--Yuen2016 G
Yuen2017 G
USP7     ASDFI_1071chr16:
9002226-9002226
TCexonicDe novononsynonymous SNVNM_001286457
NM_003470
NM_001286458
c.A1195G
c.A1243G
c.A946G
p.T399A
p.T415A
p.T316A
15.79-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
USP7     Mahjani2021:117chr16:
9009148-9009148
ACexonicstopgainNM_001286457
NM_003470
NM_001286458
c.T993G
c.T1041G
c.T744G
p.Y331X
p.Y347X
p.Y248X
38.0-Mahjani2021 E
USP7     1-0186-004chr16:
9122943-9122951
GGGATAATAGintergenicDe novo--Yuen2017 G
USP7     2-1529-003chr16:
9165340-9165340
TCintergenicDe novo--Yuen2017 G
USP7     AU2162302chr16:
9165589-9165589
AGintergenicDe novo--Yuen2017 G
USP7     1-0534-003chr16:
8991757-8991757
AAAAAAGintronicDe novo--Yuen2017 G
USP7     13855.p1chr16:
8996017-8996017
GCexonicDe novononsynonymous SNVNM_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     AU017304chr16:
9066484-9066484
CGintergenicDe novo--Yuen2017 G
USP7     AU012804chr16:
9013902-9013902
TCintronicDe novo--Yuen2017 G
USP7     2-1176-003chr16:
9085913-9085913
ACintergenicDe novo--Yuen2017 G
USP7     AU2162302chr16:
9169392-9169392
GCintergenicDe novo--Yuen2017 G
USP7     1-0381-003chr16:
9158544-9158544
GAintergenicDe novo--Yuen2017 G
Source Variant Information

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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 notesView
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