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Results for "PIAS1"

Variant Events: 22

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
PIAS1     AU017703chr15:
68439314-68439318
AATATAATintronicDe novo--Yuen2017 G
PIAS1     3-0439-000chr15:
68388857-68388857
GAintronicDe novo--Yuen2016 G
PIAS1     1-0560-003chr15:
68189865-68189865
TCintergenicDe novo--Yuen2017 G
PIAS1     1-0763-003chr15:
68315940-68315940
TCintergenicDe novo--Yuen2017 G
PIAS1     AU2525302chr15:
68213880-68213880
CTintergenicDe novo--Yuen2017 G
PIAS1     13888.p1chr15:
68480165-68480165
TCexonicDe novosynonymous SNVNM_016166c.T1948Cp.L650L-7.188E-5Iossifov2014 E
Kosmicki2017 E
Satterstrom2020 E
PIAS1     AU03304chr15:
68378807-68378807
GAexonicDe novononsynonymous SNVNM_016166c.G188Ap.R63Q21.28.288E-6DeRubeis2014 E
Kosmicki2017 E
Lim2017 E
Neale2012 E
Satterstrom2020 E
PIAS1     A10chr15:
68406347-68406347
ATintronicDe novo--Wu2018 G
PIAS1     AU4468301chr15:
68382056-68382056
GAintronicDe novo--Yuen2017 G
PIAS1     1-0148-005chr15:
68261782-68261782
GCintergenicDe novo--Yuen2017 G
PIAS1     2-1246-003chr15:
68236844-68236844
GAintergenicDe novo--Yuen2017 G
PIAS1     2-0145-004chr15:
68236962-68236962
CAintergenicDe novo--Yuen2017 G
PIAS1     AU4072303chr15:
68277875-68277875
CTintergenicDe novo--Yuen2017 G
PIAS1     AU0452304chr15:
68448268-68448268
TAintronicDe novo--Yuen2017 G
PIAS1     1-0261-004chr15:
68313095-68313095
CTintergenicDe novo--Yuen2017 G
PIAS1     2-1627-003chr15:
68343259-68343259
AGintergenicDe novo--Yuen2017 G
PIAS1     SSC08927chr15:
68480165-68480165
TCexonicDe novosynonymous SNVNM_016166c.T1948Cp.L650L-7.188E-5Lim2017 E
PIAS1     1-0656-003chr15:
68184669-68184669
CGintergenicDe novo--Yuen2017 G
PIAS1     2-1275-003chr15:
68135892-68135892
CTintergenicDe novo--Yuen2017 G
PIAS1     14153.p1chr15:
68368411-68368411
CTintronicDe novo--Turner2016 G
PIAS1     1-0045-003chr15:
68291045-68291045
AGintergenicDe novo--Yuen2017 G
PIAS1     2-1362-004chr15:
68472638-68472638
AGintronicDe 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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