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Results for "PAX5"

Variant Events: 27

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     5-0148-003chr9:
36881952-36881952
GAintronicDe novo-5.552E-5Yuen2017 G
PAX5     09C99930chr9:
37020768-37020768
AACexonicDe novoframeshift insertionNM_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-4Satterstrom2020 E
PAX5     2-1005-003chr9:
37004837-37004837
GCintronicDe novo--Yuen2017 G
PAX5     2-1693-003chr9:
36984168-36984168
GCintronicDe novo--Yuen2017 G
PAX5     201039chr9:
36923394-36923394
CTexonicUnknownnonsynonymous SNVNM_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
32.08.332E-6Wang2020 T
Wang2020 T
PAX5     372944chr9:
36966664-36966664
CTexonicUnknownnonsynonymous SNVNM_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
35.04.959E-5Wang2020 T
Wang2020 T
PAX5     12858.p1 Complex Event; expand row to view variants  De novoframeshift deletionNM_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
PAX5     211-5583-3 Complex Event; expand row to view variants  De novoframeshift insertionNM_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-4O’Roak2014 T
Stessman2017 T
Stessman2017 T
Wang2020 T
Wang2020 T
PAX5     GX0365.p1chr9:
37015019-37015019
CTexonicMaternalnonsynonymous SNVNM_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
30.08.244E-6Guo2018 T
Wang2020 T
Wang2020 T
PAX5     BK849-01chr9:
37020669-37020669
CTexonicUnknownnonsynonymous SNVNM_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
Wang2020 T
PAX5     7-0249-004chr9:
37008003-37008003
ACintronicDe novo--Yuen2017 G
PAX5     5-0014-004chr9:
36887147-36887147
GCintronicDe novo--Yuen2017 G
PAX5     2-0043-003 Complex Event; expand row to view variants  De novo--Yuen2016 G
Yuen2017 G
PAX5     AU3399303chr9:
37051099-37051099
TAintergenicDe novo--Yuen2017 G
PAX5     1-0255-003chr9:
37020768-37020768
AACexonicDe novoframeshift insertionNM_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-4Wang2020 T
PAX5     2-1617-003chr9:
36935377-36935377
CGintronicDe novo--Yuen2017 G
PAX5     2-1644-003chr9:
36924763-36924763
AAAAGAGAAAGintronicDe novo--Yuen2017 G
PAX5     11010.p1chr9:
36905431-36905431
CGintronicDe novo--Wilfert2021 G
PAX5     13812.p1chr9:
36838884-36838884
CTUTR3De novo--Wilfert2021 G
PAX5     12860.p1chr9:
37026087-37026087
CAintronicDe novo--Wilfert2021 G
PAX5     SD0220.p1chr9:
36846911-36846911
CTexonicUnknownnonsynonymous SNVNM_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
Wang2020 T
PAX5     ASDchr9:
36840564-36840564
CTexonicUnknownnonsynonymous SNVNM_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
Wang2020 T
PAX5     SD0216.p1chr9:
36840551-36840551
CTexonicUnknownstopgainNM_001280550
NM_001280549
c.G863A
c.G950A
p.W288X
p.W317X
12.923.03E-5Wang2020 T
Wang2020 T
PAX5     AU3761301chr9:
37045796-37045796
AGintergenicDe novo--Yuen2017 G
PAX5     AU2581301chr9:
36882073-36882073
CTexonicUnknownnonsynonymous SNVNM_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
Wang2020 T
PAX5     220-9860-201chr9:
37033983-37033983
CGexonicDe novononsynonymous SNVNM_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     SP0016232chr9:
37015066-37015066
TAexonicDe novononsynonymous SNVNM_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
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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