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Results for "EP300"

Variant Events: 26

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
EP300     TRE_2079chr22:
41542736-41542736
AGintronicDe novo--Fu2022 E
EP300     SSC09043chr22:
41527552-41527552
GAexonicDe novosynonymous SNVNM_001429c.G1443Ap.P481P-2.0E-4Fu2022 E
EP300     SSC04797chr22:
41572350-41572350
CTexonicDe novononsynonymous SNVNM_001429c.C4879Tp.R1627W15.53-Fu2022 E
Lim2017 E
EP300     F1-003chr22:
41513727-41513727
GAexonicPaternalnonsynonymous SNVNM_001429c.G631Ap.G211S17.30.0054Vaags2012 E
EP300     SP0077053chr22:
41488954-41488954
ACUTR5De novo--Fu2022 E
EP300     SP0137125chr22:
41574267-41574267
ACexonicDe novononsynonymous SNVNM_001429c.A6552Cp.R2184S5.59-Fu2022 E
EP300     GEA362chr22:
41572254-41572254
TGexonicDe novononsynonymous SNVNM_001429c.T4783Gp.F1595V16.81-Fu2022 E
EP300     SP0003744chr22:
41527338-41527338
CCTintronicDe novo--Fu2022 E
EP300     7-0219-003chr22:
41574883-41574883
GAexonicDe novononsynonymous SNVNM_001429c.G7168Ap.A2390T13.856.607E-5Yuen2017 G
EP300     4286_18auchr22:
41572680-41572680
CAintronicDe novo--Fu2022 E
EP300     1-0290-003chr22:
41553858-41553861
GTAAGintronicDe novo--Yuen2017 G
EP300     1-0193-003chr22:
41539391-41539391
GCintronicDe novo--Yuen2017 G
EP300     2-1339-003chr22:
41531282-41531282
CGintronicDe novo--Yuen2017 G
EP300     13704.p1chr22:
41527552-41527552
GAexonicDe novosynonymous SNVNM_001429c.G1443Ap.P481P-2.0E-4Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
EP300     2-1325-003chr22:
41517768-41517768
AGintronicDe novo--Yuen2016 G
Yuen2017 G
EP300     12693.p1chr22:
41572350-41572350
CTexonicDe novononsynonymous SNVNM_001429c.C4879Tp.R1627W15.53-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
EP300     DEASD_0130_001chr22:
41564872-41564872
GGTsplicingDe novosplicing--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
EP300     14482.p1chr22:
41560947-41560947
GAintronicDe novo--Turner2016 G
EP300     152107chr22:
41513754-41513754
ATexonicDe novononsynonymous SNVNM_001429c.A658Tp.T220S15.31-Fu2022 E
Satterstrom2020 E
EP300     2-1323-003chr22:
41556444-41556444
ACintronicDe novo--Yuen2017 G
EP300     REACH000504chr22:
41525991-41525996
TAAGAGTexonicframeshift deletionNM_001429c.1267_1271delp.K423fs--Antaki2022 GE
EP300     SP0011488chr22:
41537122-41537122
CGexonicDe novononsynonymous SNVNM_001429c.C1949Gp.T650S14.81-Fu2022 E
EP300     SP0046531chr22:
41573889-41573890
CACexonicDe novoframeshift deletionNM_001429c.6175delAp.R2059fs--Antaki2022 GE
Fu2022 E
EP300     SP0134668chr22:
41573528-41573528
CTexonicDe novononsynonymous SNVNM_001429c.C5813Tp.T1938M8.37-Fu2022 E
EP300     SP0012465chr22:
41573458-41573458
CTexonicDe novostopgainNM_001429c.C5743Tp.Q1915X53.0-Antaki2022 GE
Fu2022 E
EP300     SP0053332chr22:
41566535-41566535
TGexonicDe novononsynonymous SNVNM_001429c.T4412Gp.L1471R18.42-Fu2022 E
Source Variant Information

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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
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