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Results for "PTPRJ"

Variant Events: 34

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
PTPRJ     1-0300-003chr11:
48145622-48145622
GAintronicDe novo--Trost2022 G
Yuen2017 G
PTPRJ     7-0035-003chr11:
48119999-48119999
GTintronicDe novo--Yuen2017 G
PTPRJ     mAGRE2281chr11:
48157773-48157774
ACAexonicPaternalframeshift deletionNM_002843c.1799delCp.T600fs--Cirnigliaro2023 G
PTPRJ     mAGRE2280chr11:
48157773-48157774
ACAexonicPaternalframeshift deletionNM_002843c.1799delCp.T600fs--Cirnigliaro2023 G
PTPRJ     mAGRE2279chr11:
48157773-48157774
ACAexonicPaternalframeshift deletionNM_002843c.1799delCp.T600fs--Cirnigliaro2023 G
PTPRJ     mAGRE1217chr11:
48142712-48142712
GAexonicPaternalstopgainNM_001098503
NM_002843
c.G510A
c.G510A
p.W170X
p.W170X
11.68-Cirnigliaro2023 G
PTPRJ     2-1146-003chr11:
48056729-48056729
GTintronicDe novo--Trost2022 G
Yuen2017 G
PTPRJ     SP0071113chr11:
48134511-48134511
TCexonicDe novononsynonymous SNVNM_001098503
NM_002843
c.T328C
c.T328C
p.S110P
p.S110P
9.812-Fu2022 E
Trost2022 G
Zhou2022 GE
PTPRJ     A1chr11:
48158839-48158839
TCintronicDe novo--Wu2018 G
PTPRJ     SP0022532chr11:
48145078-48145078
CTintronicDe novo--Fu2022 E
PTPRJ     2-1194-003chr11:
48124063-48124063
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
PTPRJ     iHART2281chr11:
48157773-48157774
ACAexonicPaternalframeshift deletionNM_002843c.1799delCp.T600fs--Ruzzo2019 G
PTPRJ     iHART2280chr11:
48157773-48157774
ACAexonicPaternalframeshift deletionNM_002843c.1799delCp.T600fs--Ruzzo2019 G
PTPRJ     08C73330chr11:
48185145-48185145
GAexonicDe novononsynonymous SNVNM_002843c.G3694Ap.E1232K19.899.081E-5Fu2022 E
PTPRJ     13542.p1chr11:
48217158-48217159
TATintergenicDe novo--Werling2018 G
PTPRJ     2-1093-009chr11:
48153373-48153373
TAUTR3De novo--Trost2022 G
Yuen2017 G
PTPRJ     AU024606chr11:
48234357-48234357
CAintergenicDe novo--Yuen2017 G
PTPRJ     iHART2279chr11:
48157773-48157774
ACAexonicPaternalframeshift deletionNM_002843c.1799delCp.T600fs--Ruzzo2019 G
PTPRJ     iHART1217chr11:
48142712-48142712
GAexonicPaternalstopgainNM_001098503
NM_002843
c.G510A
c.G510A
p.W170X
p.W170X
11.68-Ruzzo2019 G
PTPRJ     AU2463301chr11:
48003434-48003434
GAintronicDe novo--Trost2022 G
PTPRJ     3-0467-000chr11:
48144683-48144683
AGintronicDe novo--Trost2022 G
PTPRJ     MSSNG00404-003chr11:
48173632-48173632
CGintronicDe novo--Trost2022 G
PTPRJ     3-0055-000chr11:
48106069-48106069
GAintronicDe novo--Trost2022 G
PTPRJ     AU2320301chr11:
48122115-48122115
ATintronicDe novo--Trost2022 G
PTPRJ     14153.p1chr11:
48153965-48153965
CAUTR3De novo--Turner2016 G
PTPRJ     Wang2023:258chr11:
48152070-48152070
GTexonicDe novononsynonymous SNVNM_001098503
NM_002843
c.G1417T
c.G1417T
p.A473S
p.A473S
17.0-Wang2023 E
PTPRJ     2-0244-003chr11:
48056891-48056892
CTGAintronicDe novo--Trost2022 G
PTPRJ     3-0055-000chr11:
48104650-48104650
AGintronicDe novo--Trost2022 G
PTPRJ     MSSNG00099-003chr11:
48006193-48006193
CTintronicDe novo--Trost2022 G
PTPRJ     AU2129303chr11:
48027839-48027839
GGGAintronicDe novo--Trost2022 G
PTPRJ     5-5065-003chr11:
48192952-48192952
CTdownstreamDe novo--Trost2022 G
PTPRJ     SP0145314chr11:
48185104-48185105
TCTexonicDe novoframeshift deletionNM_002843c.3654delCp.F1218fs--Trost2022 G
PTPRJ     SP0162628chr11:
48186035-48186035
CTexonicDe novostopgainNM_002843c.C3823Tp.R1275X44.0-Trost2022 G
PTPRJ     AU1725302chr11:
48216957-48216958
ATAintergenicDe novo--Yuen2017 G
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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