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Results for "UBE3A"

Variant Events: 25

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
UBE3A     13873.p1chr15:
25615808-25615808
TCexonicDe novononsynonymous SNVNM_130838
NM_130839
NM_000462
c.A1453G
c.A1513G
c.A1522G
p.T485A
p.T505A
p.T508A
12.88-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
UBE3A     AU4394302chr15:
25902152-25902152
TGintergenicDe novo--Yuen2017 G
UBE3A     SSC09344chr15:
25615808-25615808
TCexonicDe novononsynonymous SNVNM_130838
NM_130839
NM_000462
c.A1453G
c.A1513G
c.A1522G
p.T485A
p.T505A
p.T508A
12.88-Lim2017 E
UBE3A     AU2427303chr15:
25705187-25705187
TCintergenicDe novo--Yuen2017 G
UBE3A     1-0699-003chr15:
25661238-25661238
CTintronicDe novo--Yuen2017 G
UBE3A     1-0495-003chr15:
25812013-25812013
CTintergenicDe novo--Yuen2017 G
UBE3A     AU073005chr15:
25582675-25582683
TAACAAACATAACAUTR3De novo--Yuen2017 G
UBE3A     1-0248-003chr15:
25709860-25709860
AGintergenicDe novo--Yuen2017 G
UBE3A     1-0404-003chr15:
25676592-25676592
CTintronicDe novo--Yuen2017 G
UBE3A     Schaaf2011:90chr15:
25615823-25615823
TAexonicUnknownnonsynonymous SNVNM_130838
NM_130839
NM_000462
c.A1438T
c.A1498T
c.A1507T
p.S480C
p.S500C
p.S503C
19.65-Schaaf2011 T
UBE3A     Schaaf2011:91chr15:
25616729-25616729
CTexonicUnknownnonsynonymous SNVNM_130838
NM_130839
NM_000462
c.G532A
c.G592A
c.G601A
p.A178T
p.A198T
p.A201T
11.940.0123Schaaf2011 T
UBE3A     AU047703chr15:
25748368-25748368
TGintergenicDe novo--Yuen2017 G
UBE3A     Schaaf2011:92chr15:
25616810-25616810
TCexonicUnknownnonsynonymous SNVNM_130838
NM_130839
NM_000462
c.A451G
c.A511G
c.A520G
p.T151A
p.T171A
p.T174A
10.38-Schaaf2011 T
UBE3A     Schaaf2011:93chr15:
25620717-25620717
TGexonicUnknownnonsynonymous SNVNM_130838
NM_130839
NM_000462
c.A196C
c.A256C
c.A265C
p.K66Q
p.K86Q
p.K89Q
29.1-Schaaf2011 T
UBE3A     Schaaf2011:99chr15:
25616750-25616756
CCTTTTCCexonicUnknownnonframeshift deletionNM_130838
NM_130839
NM_000462
c.505_510del
c.565_570del
c.574_579del
p.169_170del
p.189_190del
p.192_193del
--Schaaf2011 T
UBE3A     2-0214-004chr15:
25619695-25619695
CCAintronicDe novo--Yuen2017 G
UBE3A     2-1212-003chr15:
25804780-25804780
CAintergenicDe novo--Yuen2017 G
UBE3A     AU3857301chr15:
25786501-25786501
TAintergenicDe novo--Yuen2017 G
UBE3A     1-0144-005chr15:
25612016-25612016
CTintronicDe novo--Yuen2017 G
UBE3A     AU3632301chr15:
25902377-25902377
CTintergenicDe novo--Yuen2017 G
UBE3A     AU3451301chr15:
25624202-25624202
TCintronicDe novo--Yuen2017 G
UBE3A     1-0591-003chr15:
25862330-25862330
CTintergenicDe novo--Yuen2017 G
UBE3A     1-0079-003chr15:
25583531-25583531
GGAAACUTR3De novo--Yuen2017 G
UBE3A     Yin2020:029chr15:
25585300-25585300
GCexonicnonsynonymous SNVNM_130838
NM_130839
NM_000462
c.C2370G
c.C2430G
c.C2439G
p.D790E
p.D810E
p.D813E
26.1-Yin2020 T
UBE3A     2-1357-004chr15:
25731472-25731472
CGintergenicDe 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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