Variant Results

or

Results for "PAX5"

Variant Events: 44

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

PAX5

AGRE_AU2581301

chr9:
36882073-36882073

C

T

exonic

Unknown

nonsynonymous SNV

NM_001280553
NM_001280554
NM_001280556
NM_001280548
NM_016734

c.G811A
c.G811A
c.G616A
c.G940A
c.G940A

p.G271R
p.G271R
p.G206R
p.G314R
p.G314R

34.0

-

Wang2020 T

PAX5

5-0148-003

chr9:
36881952-36881952

G

A

intronic

De novo

-

5.552E-5

Trost2022 G
Yuen2017 G

PAX5

ACGC_SD0220.p1

chr9:
36846911-36846911

C

T

exonic

Unknown

nonsynonymous SNV

NM_001280549
NM_001280555
NM_001280547
NM_001280554
NM_001280556
NM_016734

c.G796A
c.G728A
c.G926A
c.G899A
c.G704A
c.G1028A

p.G266R
p.G243E
p.G309E
p.G300E
p.G235E
p.G343E

23.8

-

Wang2020 T

PAX5

09C99930

chr9:
37020768-37020768

A

AC

exonic

De novo

frameshift insertion

NM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_001280555
NM_016734

c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG

p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs

-

1.0E-4

Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE

PAX5

1-0255-003

chr9:
37020768-37020768

A

AC

exonic

De novo

frameshift insertion

NM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_001280555
NM_016734

c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG

p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs

-

1.0E-4

Wang2020 T

PAX5

ACGC_SD0216.p1

chr9:
36840551-36840551

C

T

exonic

Unknown

stopgain

NM_001280550
NM_001280549

c.G863A
c.G950A

p.W288X
p.W317X

12.92

3.03E-5

Wang2020 T

PAX5

2-1005-003

chr9:
37004837-37004837

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PAX5

Melbourne2_ASD_1525

chr9:
36840564-36840564

C

T

exonic

Unknown

nonsynonymous SNV

NM_001280550
NM_001280551
NM_001280549
NM_001280552
NM_001280553
NM_001280555
NM_001280547
NM_001280548
NM_001280554
NM_001280556
NM_016734

c.G850A
c.G656A
c.G937A
c.G980A
c.G953A
c.G869A
c.G1067A
c.G1082A
c.G1040A
c.G845A
c.G1169A

p.V284I
p.R219H
p.V313I
p.R327H
p.R318H
p.R290H
p.R356H
p.R361H
p.R347H
p.R282H
p.R390H

23.6

-

Wang2020 T

PAX5

2-1693-003

chr9:
36984168-36984168

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PAX5

Leuven_201039

chr9:
36923394-36923394

C

T

exonic

Unknown

nonsynonymous SNV

NM_001280551
NM_001280553
NM_001280554
NM_001280555
NM_001280556
NM_001280547
NM_001280548
NM_001280552
NM_016734

c.G544A
c.G739A
c.G739A
c.G670A
c.G544A
c.G868A
c.G868A
c.G868A
c.G868A

p.G182R
p.G247R
p.G247R
p.G224R
p.G182R
p.G290R
p.G290R
p.G290R
p.G290R

32.0

8.332E-6

Wang2020 T

PAX5

SAGE_BK849-01

chr9:
37020669-37020669

C

T

exonic

Unknown

nonsynonymous SNV

NM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_001280555
NM_016734

c.G176A
c.G176A
c.G176A
c.G176A
c.G176A
c.G176A
c.G176A
c.G176A
c.G176A

p.R59Q
p.R59Q
p.R59Q
p.R59Q
p.R59Q
p.R59Q
p.R59Q
p.R59Q
p.R59Q

26.8

-

Wang2020 T

PAX5

Melbourne2_ASD_1537

chr9:
36840564-36840564

C

T

exonic

Unknown

nonsynonymous SNV

NM_001280550
NM_001280551
NM_001280549
NM_001280552
NM_001280553
NM_001280555
NM_001280547
NM_001280548
NM_001280554
NM_001280556
NM_016734

c.G850A
c.G656A
c.G937A
c.G980A
c.G953A
c.G869A
c.G1067A
c.G1082A
c.G1040A
c.G845A
c.G1169A

p.V284I
p.R219H
p.V313I
p.R327H
p.R318H
p.R290H
p.R356H
p.R361H
p.R347H
p.R282H
p.R390H

23.6

-

Wang2020 T

PAX5

7-0233-004

chr9:
36887716-36887717

GA

AAATAAATCT

intronic

De novo

-

Trost2022 G

PAX5

Leuven_372944

chr9:
36966664-36966664

C

T

exonic

Unknown

nonsynonymous SNV

NM_001280551
NM_001280553
NM_001280554
NM_001280555
NM_001280556
NM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_016734

c.G338A
c.G533A
c.G533A
c.G464A
c.G338A
c.G662A
c.G662A
c.G662A
c.G662A
c.G662A
c.G662A

p.R113Q
p.R178Q
p.R178Q
p.R155Q
p.R113Q
p.R221Q
p.R221Q
p.R221Q
p.R221Q
p.R221Q
p.R221Q

35.0

4.959E-5

Wang2020 T

PAX5

SJD_59.3

chr9:
36895274-36895274

G

A

intronic

De novo

-

Trost2022 G

PAX5

7-0363-003

chr9:
36852963-36852963

C

A

intronic

De novo

-

Trost2022 G

PAX5

MSSNG00369-004

chr9:
36856124-36856124

C

G

intronic

De novo

-

Trost2022 G

PAX5

ACGC_GX0365.p1

chr9:
37015019-37015019

C

T

exonic

Maternal

nonsynonymous SNV

NM_001280551
NM_001280556
NM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_016734

c.G61A
c.G61A
c.G385A
c.G385A
c.G385A
c.G385A
c.G385A
c.G385A
c.G385A
c.G385A

p.V21M
p.V21M
p.V129M
p.V129M
p.V129M
p.V129M
p.V129M
p.V129M
p.V129M
p.V129M

30.0

8.244E-6

Wang2020 T

PAX5

1-0838-003

chr9:
36836630-36836630

C

A

UTR3

De novo

-

Trost2022 G

PAX5

12858.p1

Complex Event; expand row to view variants

De novo

frameshift deletion

NM_001280551
NM_001280556
NM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_016734
NM_001280551
NM_001280556
NM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_016734
NM_001280551
NM_001280556
NM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_016734

c.10delT
c.10delT
c.334delT
c.334delT
c.334delT
c.334delT
c.334delT
c.334delT
c.334delT
c.334delT
c.8delC
c.8delC
c.332delC
c.332delC
c.332delC
c.332delC
c.332delC
c.332delC
c.332delC
c.332delC
c.9delC
c.9delC
c.333delC
c.333delC
c.333delC
c.333delC
c.333delC
c.333delC
c.333delC
c.333delC

p.W4fs
p.W4fs
p.W112fs
p.W112fs
p.W112fs
p.W112fs
p.W112fs
p.W112fs
p.W112fs
p.W112fs
p.A3fs
p.A3fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A3fs
p.A3fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
O’Roak2014 T
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Willsey2013 E
Zhou2022 GE

PAX5

SSC06219

chr9:
37015070-37015071

AG

A

exonic

De novo

frameshift deletion

NM_001280551
NM_001280556
NM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_016734

c.9delC
c.9delC
c.333delC
c.333delC
c.333delC
c.333delC
c.333delC
c.333delC
c.333delC
c.333delC

p.A3fs
p.A3fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs
p.A111fs

-

Antaki2022 GE
Fu2022 E
Trost2022 G

PAX5

3-0052-000

chr9:
36846828-36846828

G

A

intronic

De novo

-

2.0E-4

Trost2022 G

PAX5

211-5583-3

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_001280555
NM_016734

c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG

p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs

-

1.0E-4

O’Roak2014 T
Stessman2017 T
Stessman2017 T

PAX5

AU2320301

chr9:
37033202-37033202

A

G

intronic

De novo

-

Trost2022 G

PAX5

GX0365.p1

chr9:
37015019-37015019

C

T

exonic

Maternal

nonsynonymous SNV

NM_001280551
NM_001280556
NM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_016734

c.G61A
c.G61A
c.G385A
c.G385A
c.G385A
c.G385A
c.G385A
c.G385A
c.G385A
c.G385A

p.V21M
p.V21M
p.V129M
p.V129M
p.V129M
p.V129M
p.V129M
p.V129M
p.V129M
p.V129M

30.0

8.244E-6

Guo2018 T

PAX5

AU2320301

chr9:
37026731-37026731

C

T

intronic

De novo

-

Trost2022 G

PAX5

AU2320301

chr9:
37033063-37033063

A

T

intronic

De novo

-

Trost2022 G

PAX5

MSSNG00411-003

chr9:
36976442-36976442

G

A

intronic

De novo

-

Trost2022 G

PAX5

MSSNG00437-003

chr9:
37009267-37009267

T

A

intronic

De novo

-

Trost2022 G

PAX5

7-0249-004

chr9:
37008003-37008003

A

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PAX5

2-0197-004

chr9:
36897087-36897087

T

TTG

intronic

De novo

-

Trost2022 G

PAX5

2-0725-003

chr9:
36932466-36932466

G

A

intronic

De novo

-

Trost2022 G

PAX5

5-0014-004

chr9:
36887147-36887147

G

C

intronic

De novo

-

Trost2022 G
Yuen2017 G

PAX5

2-0043-003

Complex Event; expand row to view variants

De novo

-

Yuen2016 G
Yuen2017 G

PAX5

TASC_211-5583-3

chr9:
37020768-37020768

A

AC

exonic

De novo

frameshift insertion

NM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_001280555
NM_016734

c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG
c.76dupG

p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs
p.V26fs

-

1.0E-4

Wang2020 T

PAX5

AU3399303

chr9:
37051099-37051099

T

A

intergenic

De novo

-

Yuen2017 G

PAX5

2-1617-003

chr9:
36935377-36935377

C

G

intronic

De novo

-

Yuen2017 G

PAX5

2-1644-003

chr9:
36924763-36924763

A

AAAGAGAAAG

intronic

De novo

-

Yuen2017 G

PAX5

11010.p1

chr9:
36905431-36905431

C

G

intronic

De novo

-

Wilfert2021 G

PAX5

13812.p1

chr9:
36838884-36838884

C

T

UTR3

De novo

-

Wilfert2021 G

PAX5

12860.p1

chr9:
37026087-37026087

C

A

intronic

De novo

-

Wilfert2021 G

PAX5

AU3761301

chr9:
37045796-37045796

A

G

intergenic

De novo

-

Yuen2017 G

PAX5

220-9860-201

chr9:
37033983-37033983

C

G

exonic

De novo

nonsynonymous SNV

NM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_001280555
NM_016734

c.G46C
c.G46C
c.G46C
c.G46C
c.G46C
c.G46C
c.G46C
c.G46C
c.G46C

p.G16R
p.G16R
p.G16R
p.G16R
p.G16R
p.G16R
p.G16R
p.G16R
p.G16R

25.6

-

O’Roak2014 T

PAX5

SP0016232

chr9:
37015066-37015066

T

A

exonic

De novo

nonsynonymous SNV

NM_001280551
NM_001280556
NM_001280547
NM_001280548
NM_001280549
NM_001280550
NM_001280552
NM_001280553
NM_001280554
NM_016734

c.A14T
c.A14T
c.A338T
c.A338T
c.A338T
c.A338T
c.A338T
c.A338T
c.A338T
c.A338T

p.E5V
p.E5V
p.E113V
p.E113V
p.E113V
p.E113V
p.E113V
p.E113V
p.E113V
p.E113V

28.2

-

Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE

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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