Variant Results

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Results for "UBN2"

Variant Events: 12

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

UBN2

12950.p1

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_173569
NM_173569

c.3190_3193del
c.3189_3192del

p.S1064fs
p.P1063fs

-

Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Wilfert2021 G
Willsey2013 E

UBN2

M20559

chr7:
138954240-138954240

C

T

exonic

Paternal

nonsynonymous SNV

NM_173569

c.C1567T

p.R523C

34.0

-

Stessman2017 T

UBN2

M20280

chr7:
138967975-138967975

C

T

exonic

Unknown

nonsynonymous SNV

NM_173569

c.C2324T

p.A775V

23.8

4.14E-5

Stessman2017 T

UBN2

09C84554

chr7:
138966823-138966823

A

G

intronic

De novo

-

4.143E-5

Kosmicki2017 E
Satterstrom2020 E

UBN2

Stessman2017:ASD_1523

chr7:
138916607-138916609

CGG

CGCGG

exonic

Unknown

frameshift insertion

NM_173569

c.376_377insCG

p.T126fs

-

Stessman2017 T

UBN2

SP0087009

chr7:
138968609-138968609

C

CCCCT

exonic

De novo

frameshift insertion

NM_173569

c.2958_2959insCCCT

p.T986fs

-

Antaki2022 GE
Fu2022 E

UBN2

2-0057-004

chr7:
138958062-138958062

C

T

exonic

De novo

stopgain

NM_173569

c.C1735T

p.R579X

39.0

8.32E-6

Yuen2017 G

UBN2

SSC06601

chr7:
138968839-138968843

CCTCT

C

exonic

De novo

frameshift deletion

NM_173569

c.3189_3192del

p.P1063fs

-

Antaki2022 GE
Fu2022 E

UBN2

AU3057301

chr7:
138956481-138956481

G

A

intronic

De novo

-

Yuen2017 G

UBN2

M13290

chr7:
138954177-138954177

C

G

exonic

Unknown

nonsynonymous SNV

NM_173569

c.C1504G

p.R502G

26.7

-

Stessman2017 T

UBN2

5-0065-003

chr7:
138917225-138917225

A

G

intronic

De novo

-

Yuen2017 G

UBN2

09C83077

chr7:
138967816-138967816

C

G

exonic

De novo

nonsynonymous SNV

NM_173569

c.C2165G

p.A722G

0.024

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

Source Variant Information

, -

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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