Variant Results

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Results for "UBAP2"

Variant Events: 14

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

UBAP2

07C63795

chr9:
33924220-33924220

A

G

exonic

De novo

synonymous SNV

NM_001282530
NM_001282529
NM_018449

c.T291C
c.T1773C
c.T2574C

p.A97A
p.A591A
p.A858A

-

-

Fu2022 E
Satterstrom2020 E

UBAP2

iHART1060

chr9:
33922993-33922993

T

TA

exonic

Paternal

frameshift insertion

NM_001282530
NM_001282529
NM_018449

c.759dupT
c.2241dupT
c.3042dupT

p.M254fs
p.M748fs
p.M1015fs

-

Ruzzo2019 G

UBAP2

2-1174-006

chr9:
33943780-33943780

G

A

intronic

De novo

-

-

Yuen2017 G

UBAP2

iHART1064

chr9:
33922993-33922993

T

TA

exonic

Paternal

frameshift insertion

NM_001282530
NM_001282529
NM_018449

c.759dupT
c.2241dupT
c.3042dupT

p.M254fs
p.M748fs
p.M1015fs

-

Ruzzo2019 G

UBAP2

2-0270-004

chr9:
33977046-33977046

T

TA

intronic

De novo

-

-

Yuen2017 G

UBAP2

2-0297-004

chr9:
33989059-33989064

CTCTTT

CT

exonic

De novo

frameshift deletion

NM_018449

c.349_352del

p.K117fs

-

-

Yuen2017 G

UBAP2

SP0007188

chr9:
33922728-33922728

G

A

exonic

De novo

nonsynonymous SNV

NM_001282530
NM_001282529
NM_018449

c.C938T
c.C2420T
c.C3221T

p.P313L
p.P807L
p.P1074L

17.72

Feliciano2019 E
Fu2022 E

UBAP2

SP0028473

chr9:
34011700-34011700

A

G

intronic

De novo

-

-

Fu2022 E

UBAP2

1-0181-004

chr9:
34058103-34058103

G

A

intergenic

De novo

-

-

Yuen2017 G

UBAP2

2-0208-004

chr9:
34041608-34041608

T

C

intronic

De novo

-

-

Yuen2017 G

UBAP2

12340.p1

chr9:
33986218-33986218

T

C

intronic

De novo

-

-

Iossifov2014 E
Kosmicki2017 E

UBAP2

1-0455-004

chr9:
33957350-33957350

G

A

intronic

De novo

-

-

Yuen2017 G

UBAP2

09C86256

chr9:
33948584-33948584

G

A

exonic

De novo

nonsynonymous SNV

NM_001282529
NM_018449

c.C257T
c.C1058T

p.S86L
p.S353L

28.8

-

DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E

UBAP2

2-1182-003

chr9:
33949791-33949791

G

A

intronic

De novo

-

-

Yuen2016 G
Yuen2017 G

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
Curation notes	View
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