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Results for "USP15"

Variant Events: 10

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     2-0022-004chr12:
62773436-62773437
TATAAAintronicDe novo--Yuen2017 G
USP15     1-0638-003chr12:
62660720-62660720
GAintronicDe novo--Yuen2017 G
USP15     3-0482-000chr12:
62787600-62787600
GAintronicDe novo--Yuen2017 G
USP15     Chen2017:87chr12:
62778084-62778084
GAsplicingDe novosplicing14.23-Chen2017 E
USP15     2-1741-003chr12:
62712937-62712937
AGintronicDe novo--Yuen2017 G
USP15     12025.p1chr12:
62749154-62749154
TGexonicMosaicstopgainNM_006313
NM_001252078
c.T726G
c.T813G
p.Y242X
p.Y271X
35.0-Krupp2017 E
USP15     AU2162302chr12:
62850432-62850432
TCintergenicDe novo--Yuen2017 G
USP15     12521.p1chr12:
62775296-62775300
CTGAGCexonicDe novoframeshift deletionNM_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     7-0161-003chr12:
62671927-62671927
CTintronicDe novo--Yuen2017 G
USP15     2-0270-003chr12:
62809092-62809092
CAintergenicDe novo--Yuen2017 G
Source Variant Information

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Source:

Paper alias:

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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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