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Results for "UBR1"

Variant Events: 42

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
UBR1     AU3051303chr15:
43282754-43282754
GAintronicDe novo--Yuen2017 G
UBR1     AU3875301chr15:
43338404-43338404
CTintronicDe novo--Trost2022 G
Yuen2017 G
UBR1     AU4343302chr15:
43319762-43319762
AGintronicDe novo--Trost2022 G
Yuen2017 G
UBR1     BRK-57–01chr15:
43347084-43347084
AGexonicUnknownnonsynonymous SNVNM_174916c.T1295Cp.I432T22.2-Abdi2023 G
UBR1     SP0337808chr15:
43244638-43244638
CTexonicnonsynonymous SNVNM_174916c.G4844Ap.R1615Q17.21-Zhou2022 GE
UBR1     mAGRE2253chr15:
43252854-43252854
GGTexonicMaternalframeshift insertionNM_174916c.4745dupAp.N1582fs--Cirnigliaro2023 G
UBR1     08C74665chr15:
43317109-43317109
AGexonicDe novononsynonymous SNVNM_174916c.T2657Cp.I886T17.75-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
UBR1     1-0563-004chr15:
43353286-43353288
CAGCintronicDe novo--Trost2022 G
Yuen2017 G
UBR1     MAC961chr15:
43256165-43256165
TCexonicDe novosynonymous SNVNM_174916c.A4668Gp.E1556E--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
UBR1     502-05-104237chr15:
43270098-43270098
TCexonicDe novononsynonymous SNVNM_174916c.A4198Gp.I1400V8.3648.3E-6Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
UBR1     mAGRE2255chr15:
43252854-43252854
GGTexonicMaternalframeshift insertionNM_174916c.4745dupAp.N1582fs--Cirnigliaro2023 G
UBR1     5-5065-003chr15:
43295500-43295500
CTintronicDe novo--Trost2022 G
UBR1     7-0274-003chr15:
43339224-43339224
GCintronicDe novo--Trost2022 G
UBR1     5-5154-003chr15:
43274629-43274629
TAintronicDe novo--Trost2022 G
UBR1     1-0549-003chr15:
43276691-43276691
TCintronicDe novo--Trost2022 G
UBR1     AU2718301chr15:
43266849-43266849
CTintronicDe novo--Trost2022 G
UBR1     AU4242302chr15:
43319445-43319445
AGintronicDe novo--Trost2022 G
Yuen2017 G
UBR1     AU2463301chr15:
43270512-43270512
GAintronicDe novo--Trost2022 G
UBR1     1-1213-003chr15:
43254542-43254542
GAintronicDe novo--Trost2022 G
UBR1     1-0595-005chr15:
43357720-43357720
CTintronicDe novo--Trost2022 G
Yuen2017 G
UBR1     iHART2253chr15:
43252854-43252854
GGTexonicMaternalframeshift insertionNM_174916c.4745dupAp.N1582fs--Ruzzo2019 G
UBR1     2-1131-003chr15:
43373145-43373145
TCintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
UBR1     iHART2255chr15:
43252854-43252854
GGTexonicMaternalframeshift insertionNM_174916c.4745dupAp.N1582fs--Ruzzo2019 G
UBR1     SP0051533chr15:
43378118-43378120
CAACintronicDe novo--Trost2022 G
UBR1     1-0629-003chr15:
43414416-43414417
CTCintergenicDe novo--Yuen2017 G
UBR1     4-0062-003chr15:
43355011-43355013
TTTAAAintronicDe novo--Trost2022 G
UBR1     1-0006-004chr15:
43355916-43355916
CCTintronicDe novo--Trost2022 G
UBR1     2-1506-003chr15:
43390143-43390143
TCintronicDe novo--Trost2022 G
Yuen2017 G
UBR1     REACH000540chr15:
43343791-43343791
ATintronicDe novo--Trost2022 G
UBR1     7-0286-003Achr15:
43346756-43346756
ATintronicDe novo--Trost2022 G
UBR1     SP0085920chr15:
43318765-43318765
AGexonicDe novosynonymous SNVNM_174916c.T2529Cp.H843H--Fu2022 E
Zhou2022 GE
UBR1     SP0126501chr15:
43299281-43299281
TGexonicDe novosynonymous SNVNM_174916c.A3411Cp.S1137S--Fu2022 E
UBR1     1-0044-003chr15:
43263361-43263361
ACintronicDe novo--Trost2022 G
Yuen2017 G
UBR1     2-0295-003chr15:
43396452-43396452
GAintronicDe novo--Trost2022 G
Yuen2017 G
UBR1     SP0087659chr15:
43252954-43252954
AGintronicDe novo--Fu2022 E
UBR1     1-0563-003chr15:
43353286-43353288
CAGCintronicDe novo--Trost2022 G
Yuen2017 G
UBR1     1-0683-004chr15:
43315354-43315354
GCintronicDe novo--Trost2022 G
Yuen2017 G
UBR1     SP0074175chr15:
43363053-43363053
TCexonicDe novononsynonymous SNVNM_174916c.A599Gp.Y200C19.96-Fu2022 E
Trost2022 G
Zhou2022 GE
UBR1     MT_21.3chr15:
43328431-43328431
AGexonicDe novononsynonymous SNVNM_174916c.T2135Cp.L712P21.6-Trost2022 G
Zhou2022 GE
UBR1     AU2500301chr15:
43317109-43317109
AGexonicnonsynonymous SNVNM_174916c.T2657Cp.I886T17.75-Zhou2022 GE
UBR1     MSSNG00051-003chr15:
43270098-43270098
TCexonicnonsynonymous SNVNM_174916c.A4198Gp.I1400V8.3648.3E-6Zhou2022 GE
UBR1     7-0249-003chr15:
43411785-43411785
TCintergenicDe 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
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