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Results for "UBR3"

Variant Events: 29

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
UBR3     3-0111-000chr2:
170882921-170882925
TACAATintronicDe novo--Yuen2016 G
UBR3     6238chr2:
170732427-170732429
CAACexonicDe novoframeshift deletionNM_172070c.813_814delp.T271fs--Fu2022 E
UBR3     12161.p1 Complex Event; expand row to view variants  De novoframeshift deletion, nonframeshift deletion, nonsynonymous SNV, synonymous SNV, frameshift substitutionNM_172070
NM_172070
NM_172070
NM_172070
NM_172070
c.813_814del
c.A813C
c.A815C
c.813_815C
c.813_815del
p.T271fs
p.T271T
p.N272T
N/A
p.271_272del
14.74-Dong2014 E
Iossifov2014 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Kosmicki2017 E
Krupp2017 E
O’Roak2012b E
O’Roak2014 T
Satterstrom2020 E
Wilfert2021 G
Willsey2013 E
UBR3     2-1429-004chr2:
170824879-170824879
GAintronicDe novo--Yuen2017 G
UBR3     2-0305-004chr2:
170830700-170830700
TTGAintronicDe novo--Yuen2017 G
UBR3     11931.p1chr2:
170885884-170885884
CTexonicDe novosynonymous SNVNM_172070c.C4482Tp.H1494H9.022-Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
UBR3     12009.p1chr2:
170929937-170929940
GGAAGexonicDe novononframeshift deletionNM_172070c.5020_5022delp.1674_1674del-1.652E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
UBR3     SSC03868chr2:
170929937-170929940
GGAAGexonicDe novononframeshift deletionNM_172070c.5020_5022delp.1674_1674del-1.652E-5Fu2022 E
UBR3     35905chr2:
170885884-170885884
CTexonicDe novosynonymous SNVNM_172070c.C4482Tp.H1494H9.022-Fu2022 E
UBR3     1-0458-004chr2:
170819866-170819866
TCintronicDe novo--Yuen2017 G
UBR3     AU3891304chr2:
170858850-170858850
AGintronicDe novo--Yuen2017 G
UBR3     1-0253-004chr2:
170906669-170906669
CTintronicDe novo--Yuen2017 G
UBR3     AU4029301chr2:
170703496-170703496
CAintronicDe novo--Yuen2017 G
UBR3     AU4344301chr2:
170844366-170844366
GTintronicDe novo--Yuen2017 G
UBR3     AU4159302chr2:
170933207-170933207
CTintronicDe novo--Yuen2017 G
UBR3     SSC03933chr2:
170732427-170732429
CAACexonicframeshift deletionNM_172070c.813_814delp.T271fs--Antaki2022 GE
UBR3     1-0107-003chr2:
170810733-170810733
GCintronicDe novo--Yuen2017 G
UBR3     1-0834-003chr2:
171010373-171010373
TCintergenicDe novo--Yuen2017 G
UBR3     2-1632-003chr2:
170905650-170905650
CTintronicDe novo--Yuen2017 G
UBR3     SP0123311chr2:
170683998-170683998
CGupstreamDe novo--Fu2022 E
UBR3     SP0073952chr2:
170897416-170897416
TGexonicDe novosynonymous SNVNM_172070c.T4581Gp.P1527P10.63-Fu2022 E
UBR3     2-1335-004chr2:
170964651-170964651
GAintergenicDe novo--Yuen2017 G
UBR3     AU058104chr2:
170926102-170926102
TGintronicDe novo--Yuen2017 G
UBR3     AU3052303chr2:
171014160-171014166
GCATCATGCATintergenicDe novo--Yuen2017 G
UBR3     12532.p1chr2:
170814915-170814915
TGintronicMosaic--Dou2017 E
UBR3     SP0009287chr2:
170684314-170684317
GGGCGexonicDe novononframeshift deletionNM_172070c.298_300delp.100_100del-3.0E-4Feliciano2019 E
UBR3     AU072904chr2:
170958142-170958142
CTintergenicDe novo--Yuen2017 G
UBR3     2-1213-003chr2:
170697147-170697147
CAintronicDe novo--Yuen2017 G
UBR3     21684-34154chr2:
170885854-170885854
AGsplicingInheritedsplicing19.71-Callaghan2019 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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