Variant Results

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Results for "USP54"

Variant Events: 18

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

USP54

2-1140-003

chr10:
75351372-75351372

T

C

intergenic

De novo

-

-

Yuen2017 G

USP54

AU4308302

chr10:
75379039-75379039

G

A

intergenic

De novo

-

-

Trost2022 G
Yuen2017 G

USP54

2-1370-003

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_152586
NM_152586
NM_152586
NM_152586

c.1193dupA
c.1192dupG
c.1191dupG
c.1191dupG

p.E398fs
p.E398fs
p.E398fs
p.T397fs

-

-

Jiang2013 G
Trost2022 G
Yuen2016 G
Yuen2017 G
Zhou2022 GE

USP54

AU1521301

chr10:
75322566-75322567

TA

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

USP54

SP0055943

chr10:
75305268-75305268

T

C

intronic

De novo

-

-

Fu2022 E
Trost2022 G

USP54

7-0198-003

chr10:
75348182-75348182

A

T

intergenic

De novo

-

-

Trost2022 G

USP54

7-0335-003

chr10:
75269832-75269832

C

T

intronic

De novo

-

-

Trost2022 G

USP54

7-0387-004

chr10:
75283131-75283131

G

A

intronic

De novo

-

-

Trost2022 G

USP54

10C105019

chr10:
75294480-75294480

T

TC

exonic

De novo

frameshift insertion

NM_152586

c.1192dupG

p.E398fs

-

-

Fu2022 E

USP54

1-0079-003

chr10:
75373937-75373944

GTGATACC

G

intergenic

De novo

-

-

Yuen2017 G

USP54

1-0552-003

chr10:
75306886-75306886

A

C

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

USP54

SP0146131

chr10:
75276373-75276373

C

T

exonic

De novo

nonsynonymous SNV

NM_152586

c.G3811A

p.D1271N

14.66

-

Fu2022 E
Trost2022 G
Zhou2022 GE

USP54

SP0005402

chr10:
75299259-75299259

G

C

exonic

De novo

nonsynonymous SNV

NM_152586

c.C918G

p.F306L

29.8

-

Fu2022 E
Trost2022 G
Zhou2022 GE

USP54

SP0101966

chr10:
75286479-75286479

G

A

exonic

De novo

nonsynonymous SNV

NM_152586

c.C2120T

p.S707L

26.4

Fu2022 E
Trost2022 G
Zhou2022 GE

USP54

AU024105

chr10:
75326243-75326243

G

A

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

USP54

mAGRE1350

chr10:
75258449-75258453

GAACA

G

exonic

Maternal

frameshift deletion

NM_152586

c.4989_4992del

p.F1663fs

-

Cirnigliaro2023 G

USP54

mAGRE1207

chr10:
75258449-75258453

GAACA

G

exonic

Maternal

frameshift deletion

NM_152586

c.4989_4992del

p.F1663fs

-

Cirnigliaro2023 G

USP54

AU2756306

chr10:
75258449-75258453

GAACA

G

exonic

Maternal

frameshift deletion

NM_152586

c.4989_4992del

p.F1663fs

-

Cirnigliaro2023 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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