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Results for "PSME4"

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
PSME4     1-0446-003chr2:
54199257-54199257
CTintergenicDe novo--Yuen2017 G
PSME4     1-0455-003chr2:
54158199-54158199
GAintronicDe novo--Yuen2017 G
PSME4     1-0261-004chr2:
54214936-54214936
CTintergenicDe novo--Yuen2017 G
PSME4     1-0403-003chr2:
54126974-54126974
CAintronicDe novo--Yuen2017 G
PSME4     M02363chr2:
54152705-54152705
GAexonicMaternalnonsynonymous SNVNM_014614c.C1780Tp.L594F32.0-Guo2018 T
Wang2016 T
PSME4     AC531.201chr2:
54114533-54114533
GAexonicDe novononsynonymous SNVNM_014614c.C4592Tp.P1531L16.03-DeRubeis2014 E
Kosmicki2017 E
PSME4     1-0285-003chr2:
54259938-54259938
ATintergenicDe novo--Yuen2017 G
PSME4     7-0080-003chr2:
54218318-54218318
GCintergenicDe novo--Yuen2017 G
PSME4     7-0080-003chr2:
54226574-54226574
GCintergenicDe novo--Yuen2017 G
PSME4     SSC11394chr2:
54114533-54114533
GAexonicDe novononsynonymous SNVNM_014614c.C4592Tp.P1531L16.03-Lim2017 E
PSME4     1-0054-004chr2:
54325386-54325386
AGintergenicDe novo--Yuen2017 G
PSME4     7-0080-003chr2:
54203555-54203555
GAintergenicDe novo--Yuen2017 G
PSME4     7-0080-003chr2:
54211161-54211161
GAintergenicDe novo--Yuen2017 G
PSME4     7-0080-003chr2:
54211488-54211488
GCintergenicDe novo--Yuen2017 G
PSME4     AU4433301chr2:
54250955-54250955
ACintergenicDe novo--Yuen2017 G
PSME4     2-1408-004chr2:
54151033-54151033
CGintronicDe novo--Yuen2017 G
PSME4     1-0065-005chr2:
54325386-54325386
AGintergenicDe novo--Yuen2017 G
PSME4     AU2777302chr2:
54144881-54144881
GAintronicDe novo--Yuen2017 G
PSME4     2-1370-003chr2:
54280427-54280427
GCintergenicDe novo--Yuen2016 G
Yuen2017 G
PSME4     M04173chr2:
54147379-54147379
CTexonicUnknownnonsynonymous SNVNM_014614c.G2371Ap.E791K34.0-Guo2018 T
Wang2016 T
PSME4     3-0391-000chr2:
54223967-54223967
AGintergenicDe novo--Yuen2017 G
PSME4     1-0387-003chr2:
54092079-54092079
CTUTR3De novo--Yuen2016 G
Yuen2017 G
PSME4     2-1635-004chr2:
54325139-54325139
AGintergenicDe novo--Yuen2017 G
PSME4     5-0015-004chr2:
54325386-54325386
AGintergenicDe novo--Yuen2017 G
PSME4     14339.p1chr2:
54114533-54114533
GAexonicDe novononsynonymous SNVNM_014614c.C4592Tp.P1531L16.03-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
PSME4     12839.p1chr2:
54135923-54135923
ACexonicDe novononsynonymous SNVNM_014614c.T2627Gp.L876R26.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Wilfert2021 G
PSME4     5-0054-003chr2:
54113604-54113604
GCintronicDe novo--Yuen2017 G
PSME4     1-0413-003chr2:
54295856-54295857
GCGintergenicDe novo--Yuen2016 G
PSME4     5-0054-003chr2:
54110231-54110231
CTintronicDe 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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