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Results for "USP54"

Variant Events: 12

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     2-1140-003chr10:
75351372-75351372
TCintergenicDe novo--Yuen2017 G
USP54     AU4308302chr10:
75379039-75379039
GAintergenicDe novo--Yuen2017 G
USP54     2-1370-003 Complex Event; expand row to view variants  De novoframeshift insertionNM_152586
NM_152586
NM_152586
c.1193dupA
c.1191dupG
c.1191dupG
p.E398fs
p.E398fs
p.T397fs
--Jiang2013 G
Yuen2016 G
Yuen2017 G
USP54     AU1521301chr10:
75322566-75322567
TATintronicDe novo--Yuen2017 G
USP54     SP0055943chr10:
75305268-75305268
TCintronicDe novo--Fu2022 E
USP54     10C105019chr10:
75294480-75294480
TTCexonicDe novoframeshift insertionNM_152586c.1192dupGp.E398fs--Fu2022 E
USP54     1-0079-003chr10:
75373937-75373944
GTGATACCGintergenicDe novo--Yuen2017 G
USP54     1-0552-003chr10:
75306886-75306886
ACintronicDe novo--Yuen2017 G
USP54     SP0146131chr10:
75276373-75276373
CTexonicDe novononsynonymous SNVNM_152586c.G3811Ap.D1271N14.66-Fu2022 E
USP54     SP0005402chr10:
75299259-75299259
GCexonicDe novononsynonymous SNVNM_152586c.C918Gp.F306L29.8-Fu2022 E
USP54     SP0101966chr10:
75286479-75286479
GAexonicDe novononsynonymous SNVNM_152586c.C2120Tp.S707L26.48.283E-6Fu2022 E
USP54     AU024105chr10:
75326243-75326243
GAintronicDe 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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