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Results for "UBR5"

Variant Events: 27

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
UBR5     SSC00124chr8:
103307441-103307441
TGexonicDe novononsynonymous SNVNM_001282873
NM_015902
c.A4049C
c.A4049C
p.N1350T
p.N1350T
18.08-Lim2017 E
UBR5     AU2793302chr8:
103385259-103385259
CGintronicDe novo--Yuen2017 G
UBR5     2-0110-003chr8:
103300396-103300396
CTexonicDe novosynonymous SNVNM_001282873
NM_015902
c.G4812A
c.G4812A
p.E1604E
p.E1604E
--Yuen2016 G
Yuen2017 G
UBR5     iHART3086chr8:
103323552-103323552
GCexonicDe novononsynonymous SNVNM_001282873
NM_015902
c.C2591G
c.C2591G
p.A864G
p.A864G
32.0-Ruzzo2019 G
UBR5     08C75326chr8:
103357756-103357758
GGAGexonicDe novoframeshift deletionNM_001282873
NM_015902
c.752_753del
c.752_753del
p.L251fs
p.L251fs
--Satterstrom2020 E
UBR5     AU1668302chr8:
103557345-103557345
CTintergenicDe novo--Yuen2017 G
UBR5     AU4067303chr8:
103321267-103321267
GAintronicDe novo--Yuen2017 G
UBR5     1-0019-004chr8:
103458740-103458740
CCCAintergenicDe novo--Yuen2017 G
UBR5     2-1148-004chr8:
103471419-103471419
CTintergenicDe novo--Yuen2017 G
UBR5     1-0485-003chr8:
103524247-103524247
GCintergenicDe novo--Yuen2017 G
UBR5     08C78789chr8:
103281231-103281231
TCexonicDe novononsynonymous SNVNM_001282873
NM_015902
c.A7336G
c.A7336G
p.M2446V
p.M2446V
7.667-DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
UBR5     PN400359chr8:
103305948-103305948
GAexonicUnknownnonsynonymous SNVNM_001282873
NM_015902
c.C4474T
c.C4474T
p.R1492C
p.R1492C
22.28.421E-6Leblond2019 E
UBR5     14012.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_001282873
NM_015902
NM_001282873
NM_015902
c.6672dupA
c.6672dupA
c.6671dupA
c.6671dupA
p.F2225fs
p.F2225fs
p.K2224fs
p.K2224fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
UBR5     AU3779301chr8:
103415152-103415152
GTintronicDe novo--Yuen2017 G
UBR5     AU3154301chr8:
103323552-103323552
GCexonicDe novononsynonymous SNVNM_001282873
NM_015902
c.C2591G
c.C2591G
p.A864G
p.A864G
32.0-Yuen2017 G
UBR5     AU2950301chr8:
103434456-103434456
GAintergenicDe novo--Yuen2017 G
UBR5     AU4164301chr8:
103537838-103537838
CTintergenicDe novo--Yuen2017 G
UBR5     302-05-103645chr8:
103298777-103298777
TCexonicDe novononsynonymous SNVNM_001282873
NM_015902
c.A5026G
c.A5026G
p.S1676G
p.S1676G
19.38-Satterstrom2020 E
UBR5     AU2711303chr8:
103504390-103504390
CGintergenicDe novo--Yuen2017 G
UBR5     AU3154301chr8:
103323442-103323442
TCintronicDe novo--Yuen2017 G
UBR5     2-1429-004chr8:
103465427-103465427
GAintergenicDe novo--Yuen2017 G
UBR5     11102.p1chr8:
103307441-103307441
TGexonicDe novononsynonymous SNVNM_001282873
NM_015902
c.A4049C
c.A4049C
p.N1350T
p.N1350T
18.08-Ji2016 E
Krumm2015 E
Satterstrom2020 E
UBR5     AU3692302chr8:
103362869-103362869
GAintronicDe novo--Yuen2017 G
UBR5     1-0553-003chr8:
103494397-103494397
CTintergenicDe novo--Yuen2017 G
UBR5     AU4228301chr8:
103424083-103424083
GAintronicDe novo--Yuen2017 G
UBR5     1-0330-003chr8:
103322548-103322548
TCintronicDe novo--Yuen2017 G
UBR5     2-1266-003chr8:
103381507-103381507
TCintronicDe 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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