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Results for "UBE3B"

Variant Events: 8

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
UBE3B     Codina-Sola2015:ASD_35chr12:
109921492-109921492
CTexonicMaternalnonsynonymous SNVNM_001270449
NM_001270450
NM_001270451
NM_130466
NM_183415
c.C136T
c.C136T
c.C136T
c.C136T
c.C136T
p.R46W
p.R46W
p.R46W
p.R46W
p.R46W
16.021.0E-4Codina-Sola2015 E
UBE3B     2-1398-003chr12:
109951099-109951115
GTGGCCACTGGAGGTGCGintronicDe novo--Yuen2017 G
UBE3B     021-07-107622chr12:
109948225-109948225
CTexonicDe novosynonymous SNVNM_130466
NM_183415
c.C1818T
c.C1818T
p.C606C
p.C606C
--Satterstrom2020 E
UBE3B     MT_69chr12:
109924375-109924375
CTexonicMaternalnonsynonymous SNVNM_001270449
NM_001270450
NM_001270451
NM_130466
NM_183415
c.C442T
c.C442T
c.C442T
c.C442T
c.C442T
p.L148F
p.L148F
p.L148F
p.L148F
p.L148F
15.312.0E-4Toma2013 E
UBE3B     5-0137-003chr12:
109915480-109915480
CTUTR5De novo--Yuen2017 G
UBE3B     AU4072303chr12:
109945265-109945265
GAintronicDe novo--Yuen2017 G
UBE3B     1-0233-004chr12:
109938334-109938334
AGintronicDe novo--Yuen2017 G
UBE3B     DEASD_0160_001chr12:
109927896-109927896
GAintronicDe novo16.41-Satterstrom2020 E
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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