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Results for "BRD4"

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
BRD4     2-1735-003chr19:
15353492-15353492
GAintronicDe novo--Yuen2017 G
BRD4     AU2792301chr19:
15433113-15433113
CGintergenicDe novo--Yuen2017 G
BRD4     13272.p1chr19:
15353791-15353791
GAexonicMosaic, De novononsynonymous SNVNM_058243c.C3089Tp.P1030L9.7741.607E-5Krumm2015 E
Lim2017 E
Satterstrom2020 E
BRD4     TAS_F0207Xchr19:
15349776-15349776
CTexonicDe novosynonymous SNVNM_058243c.G3798Ap.E1266E--Satterstrom2020 E
BRD4     7-0253-005chr19:
15412382-15412382
ACintergenicDe novo--Yuen2017 G
BRD4     1-0640-003chr19:
15419610-15419610
ATintergenicDe novo--Yuen2017 G
BRD4     121_16mrchr19:
15375544-15375544
TGexonicDe novononsynonymous SNVNM_014299
NM_058243
c.A883C
c.A883C
p.T295P
p.T295P
26.5-Satterstrom2020 E
BRD4     13256.p1chr19:
15375549-15375549
TCexonicDe novononsynonymous SNVNM_014299
NM_058243
c.A878G
c.A878G
p.D293G
p.D293G
27.1-Ji2016 E
Krumm2015 E
Satterstrom2020 E
BRD4     2-0007-004chr19:
15395385-15395385
AGintergenicDe novo--Yuen2017 G
BRD4     13047.p1chr19:
15355419-15355421
CAGCintronicDe novo-3.321E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
BRD4     1-0560-003chr19:
15391480-15391480
CTupstreamDe novo--Yuen2017 G
BRD4     12733.p1 Complex Event; expand row to view variants  De novononframeshift deletionNM_014299
NM_058243
NM_014299
NM_058243
c.649_651del
c.649_651del
c.648_650del
c.648_650del
p.217_217del
p.217_217del
p.216_217del
p.216_217del
-8.238E-6Dong2014 E
Iossifov2012 E
Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
BRD4     DEASD_1048_001chr19:
15374305-15374305
GAexonicDe novostopgainNM_014299
NM_058243
c.C1267T
c.C1267T
p.R423X
p.R423X
40.0-Satterstrom2020 E
BRD4     SSC06885chr19:
15375549-15375549
TCexonicDe novononsynonymous SNVNM_014299
NM_058243
c.A878G
c.A878G
p.D293G
p.D293G
27.1-Lim2017 E
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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