Variant Results

or

Results for "PSME4"

Variant Events: 61

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

1-0261-004

chr2:
54214936-54214936

C

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

PSME4

M02363

chr2:
54152705-54152705

G

A

exonic

Maternal

nonsynonymous SNV

NM_014614

c.C1780T

p.L594F

32.0

-

Guo2018 T
Wang2016 T

PSME4

1-0054-004

chr2:
54325386-54325386

A

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

PSME4

2-1408-004

chr2:
54151033-54151033

C

G

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSME4

1-0065-005

chr2:
54325386-54325386

A

G

intergenic

De novo

-

Yuen2017 G

PSME4

AU2777302

chr2:
54144881-54144881

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSME4

2-1370-003

chr2:
54280427-54280427

G

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

PSME4

3-0391-000

chr2:
54223967-54223967

A

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

PSME4

1-0387-003

chr2:
54092079-54092079

C

T

UTR3

De novo

-

Yuen2016 G
Yuen2017 G

PSME4

5-0015-004

chr2:
54325386-54325386

A

G

intergenic

De novo

-

Trost2022 G
Yuen2017 G

PSME4

12839_p1

chr2:
54135923-54135923

A

C

exonic

De novo

nonsynonymous SNV

NM_014614

c.T2627G

p.L876R

26.0

-

Fu2022 E

PSME4

1-1217-003

chr2:
54216699-54216699

C

A

intergenic

De novo

-

Trost2022 G

PSME4

REACH000096

chr2:
54193836-54193836

T

G

intronic

De novo

-

Trost2022 G

PSME4

1-1066-003

chr2:
54282327-54282327

C

T

intergenic

De novo

-

Trost2022 G

PSME4

1-1217-003

chr2:
54217513-54217513

C

A

intergenic

De novo

-

Trost2022 G

PSME4

7-0452-003

chr2:
54111647-54111647

C

T

intronic

De novo

-

Trost2022 G

PSME4

3-0497-000

chr2:
54321153-54321153

G

C

intergenic

De novo

-

Trost2022 G

PSME4

REACH000714

chr2:
54311642-54311642

T

G

intergenic

De novo

-

Trost2022 G

PSME4

1-0446-003

chr2:
54199257-54199257

C

T

intergenic

De novo

-

Yuen2017 G

PSME4

5-0015-004

chr2:
54325076-54325078

CCC

TTT

intergenic

De novo

-

Trost2022 G

PSME4

1-0333-003

chr2:
54325076-54325078

CCC

TTT

intergenic

De novo

-

Trost2022 G

PSME4

1-0455-003

chr2:
54158199-54158199

G

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSME4

REACH000559

chr2:
54288566-54288566

A

G

intergenic

De novo

-

Trost2022 G

PSME4

REACH000517

chr2:
54288566-54288566

A

G

intergenic

De novo

-

Trost2022 G

PSME4

1-0403-003

chr2:
54126974-54126974

C

A

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSME4

3-0497-000

chr2:
54307944-54307944

A

T

intergenic

De novo

-

Trost2022 G

PSME4

REACH000626

chr2:
54288566-54288566

A

G

intergenic

De novo

-

Trost2022 G

PSME4

5-0015-004

chr2:
54325193-54325193

A

G

intergenic

De novo

-

Trost2022 G

PSME4

2-0198-004

chr2:
54325193-54325193

A

G

intergenic

De novo

-

Trost2022 G

PSME4

2-0198-004

chr2:
54325386-54325386

A

G

intergenic

De novo

-

Trost2022 G

PSME4

5-0015-004

chr2:
54325203-54325203

A

C

intergenic

De novo

-

Trost2022 G

PSME4

5-0015-004

chr2:
54325097-54325098

CC

TT

intergenic

De novo

-

Trost2022 G

PSME4

AC531.201

chr2:
54114533-54114533

G

A

exonic

De novo

nonsynonymous SNV

NM_014614

c.C4592T

p.P1531L

16.03

-

DeRubeis2014 E
Kosmicki2017 E
Zhou2022 GE

PSME4

1-0285-003

chr2:
54259938-54259938

A

T

intergenic

De novo

-

Trost2022 G
Yuen2017 G

PSME4

3-0134-000

chr2:
54325097-54325098

CC

TT

intergenic

De novo

-

Trost2022 G

PSME4

5-0015-004

chr2:
54325186-54325188

ACT

GCC

intergenic

De novo

-

Trost2022 G

PSME4

2-0198-004

chr2:
54325186-54325188

ACT

GCC

intergenic

De novo

-

Trost2022 G

PSME4

REACH000284

chr2:
54333980-54333980

C

CA

intergenic

De novo

-

Trost2022 G

PSME4

4-0035-003

chr2:
54325386-54325386

A

G

intergenic

De novo

-

Trost2022 G

PSME4

5-0025-004

chr2:
54325386-54325386

A

G

intergenic

De novo

-

Trost2022 G

PSME4

2-1238-003

chr2:
54325386-54325386

A

G

intergenic

De novo

-

Trost2022 G

PSME4

2-1391-004

chr2:
54325386-54325386

A

G

intergenic

De novo

-

Trost2022 G

PSME4

7-0080-003

chr2:
54218318-54218318

G

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

PSME4

7-0080-003

chr2:
54226574-54226574

G

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

PSME4

SSC11394

chr2:
54114533-54114533

G

A

exonic

De novo

nonsynonymous SNV

NM_014614

c.C4592T

p.P1531L

16.03

-

Fu2022 E
Lim2017 E
Trost2022 G

PSME4

7-0080-003

chr2:
54203555-54203555

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

PSME4

7-0080-003

chr2:
54211161-54211161

G

A

intergenic

De novo

-

Trost2022 G
Yuen2017 G

PSME4

7-0080-003

chr2:
54211488-54211488

G

C

intergenic

De novo

-

Trost2022 G
Yuen2017 G

PSME4

AU4433301

chr2:
54250955-54250955

A

C

intergenic

De novo

-

Yuen2017 G

PSME4

MSSNG00026-003

chr2:
54176323-54176324

TG

T

exonic

De novo

frameshift deletion

NM_014614

c.339delC

p.I113fs

-

Trost2022 G
Zhou2022 GE

PSME4

M04173

chr2:
54147379-54147379

C

T

exonic

Unknown

nonsynonymous SNV

NM_014614

c.G2371A

p.E791K

34.0

-

Guo2018 T
Wang2016 T

PSME4

2-1635-004

chr2:
54325139-54325139

A

G

intergenic

De novo

-

Yuen2017 G

PSME4

14339.p1

chr2:
54114533-54114533

G

A

exonic

De novo

nonsynonymous SNV

NM_014614

c.C4592T

p.P1531L

16.03

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE

PSME4

12839.p1

chr2:
54135923-54135923

A

C

exonic

De novo

nonsynonymous SNV

NM_014614

c.T2627G

p.L876R

26.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE

PSME4

5-0054-003

chr2:
54113604-54113604

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSME4

1-0413-003

chr2:
54295856-54295857

GC

G

intergenic

De novo

-

Yuen2016 G

PSME4

SP0135788

chr2:
54125496-54125496

A

C

intronic

De novo

-

2.0E-4

Fu2022 E

PSME4

SP0093832

chr2:
54159069-54159069

C

A

exonic

De novo

nonsynonymous SNV

NM_014614

c.G1219T

p.A407S

30.0

-

Fu2022 E
Trost2022 G
Zhou2022 GE

PSME4

SP0008356

chr2:
54163316-54163316

G

C

intronic

De novo

-

Fu2022 E
Trost2022 G

PSME4

5-0054-003

chr2:
54110231-54110231

C

T

intronic

De novo

-

Trost2022 G
Yuen2017 G

PSME4

SP0010656

chr2:
54117227-54117227

G

T

intronic

De novo

-

Fu2022 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
Curation notes	View
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