Variant Results

or

Results for "USP15"

Variant Events: 14

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

USP15

2-0022-004

chr12:
62773436-62773437

TA

TAAA

intronic

De novo

-

Yuen2017 G

USP15

SP0106231

chr12:
62715231-62715231

C

T

intronic

De novo

-

Fu2022 E

USP15

SP0088161

chr12:
62719701-62719701

C

CCTTCTACTCCTAAGTAAGTG

exonic

De novo

stopgain

NM_001252078
NM_001252079
NM_006313

c.670_671insCTTCTACTCCTAAGTAAGTG
c.670_671insCTTCTACTCCTAAGTAAGTG
c.670_671insCTTCTACTCCTAAGTAAGTG

p.P224_S225delinsPSTPKX
p.P224_S225delinsPSTPKX
p.P224_S225delinsPSTPKX

-

Fu2022 E

USP15

Chen2017:87

chr12:
62778084-62778084

G

A

splicing

De novo

splicing

14.23

-

Chen2017 E

USP15

2-1741-003

chr12:
62712937-62712937

A

G

intronic

De novo

-

Yuen2017 G

USP15

12025.p1

chr12:
62749154-62749154

T

G

exonic

Mosaic

stopgain

NM_006313
NM_001252078

c.T726G
c.T813G

p.Y242X
p.Y271X

35.0

-

Krupp2017 E

USP15

AU2162302

chr12:
62850432-62850432

T

C

intergenic

De novo

-

Yuen2017 G

USP15

SP0089962

chr12:
62783372-62783372

C

T

intronic

De novo

-

1.653E-5

Fu2022 E

USP15

12521.p1

chr12:
62775296-62775300

CTGAG

C

exonic

De novo

frameshift deletion

NM_006313
NM_001252078

c.855_858del
c.942_945del

p.T285fs
p.T314fs

-

Dong2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2012b E
Satterstrom2020 E
Willsey2013 E

USP15

SP0070216

chr12:
62730066-62730066

G

C

UTR3

De novo

-

Fu2022 E

USP15

7-0161-003

chr12:
62671927-62671927

C

T

intronic

De novo

-

Yuen2017 G

USP15

2-0270-003

chr12:
62809092-62809092

C

A

intergenic

De novo

-

Yuen2017 G

USP15

1-0638-003

chr12:
62660720-62660720

G

A

intronic

De novo

-

Yuen2017 G

USP15

3-0482-000

chr12:
62787600-62787600

G

A

intronic

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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