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Results for "EP300"

Variant Events: 13

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     14482.p1chr22:
41560947-41560947
GAintronicDe novo--Turner2016 G
EP300     SSC04797chr22:
41572350-41572350
CTexonicDe novononsynonymous SNVNM_001429c.C4879Tp.R1627W15.53-Lim2017 E
EP300     F1-003chr22:
41513727-41513727
GAexonicPaternalnonsynonymous SNVNM_001429c.G631Ap.G211S17.30.0054Vaags2012 E
EP300     152107chr22:
41513754-41513754
ATexonicDe novononsynonymous SNVNM_001429c.A658Tp.T220S15.31-Satterstrom2020 E
EP300     7-0219-003chr22:
41574883-41574883
GAexonicDe novononsynonymous SNVNM_001429c.G7168Ap.A2390T13.856.607E-5Yuen2017 G
EP300     2-1323-003chr22:
41556444-41556444
ACintronicDe novo--Yuen2017 G
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
Kosmicki2017 E
Satterstrom2020 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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