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Results for "PTPRM"

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
PTPRM     2-1437-004chr18:
7952489-7952489
GAintronicDe novo--Yuen2017 G
PTPRM     12686.p1chr18:
8143719-8143719
GAexonicDe novononsynonymous SNVNM_001105244
NM_002845
c.G2242A
c.G2242A
p.A748T
p.A748T
35.08.237E-6Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
PTPRM     AU3154302chr18:
7727367-7727367
GTintronicDe novo--Yuen2017 G
PTPRM     1-0209-003chr18:
8442473-8442473
CTintergenicDe novo--Yuen2017 G
PTPRM     7-0219-003chr18:
8468305-8468305
GCintergenicDe novo--Yuen2017 G
PTPRM     AU4164301chr18:
7973896-7973897
TATAAintronicDe novo--Yuen2017 G
PTPRM     1-0226-005chr18:
8156265-8156265
ACintronicDe novo--Yuen2017 G
PTPRM     1-0226-005chr18:
7934909-7934909
GAintronicDe novo--Yuen2017 G
PTPRM     1-0446-003chr18:
8104071-8104071
AATCTintronicDe novo--Yuen2017 G
PTPRM     1-0225-003chr18:
8463265-8463265
CTintergenicDe novo--Yuen2017 G
PTPRM     7-0080-003chr18:
7626934-7626934
CAintronicDe novo--Yuen2017 G
PTPRM     AU3052302chr18:
8158215-8158215
GCintronicDe novo--Yuen2017 G
PTPRM     2-1426-003chr18:
8463805-8463805
CTintergenicDe novo--Yuen2017 G
PTPRM     2-1210-003chr18:
8233066-8233066
GCintronicDe novo--Yuen2017 G
PTPRM     2-1497-003chr18:
7838894-7838894
CTintronicDe novo--Yuen2017 G
PTPRM     313-04-100967chr18:
8394510-8394510
CGexonicDe novononsynonymous SNVNM_002845
NM_001105244
c.C4206G
c.C4245G
p.I1402M
p.I1415M
24.7-Satterstrom2020 E
PTPRM     AU1404301chr18:
8399188-8399188
AGintronicDe novo--Yuen2017 G
PTPRM     AU051504chr18:
7576949-7576949
GAintronicDe novo--Yuen2017 G
PTPRM     3-0456-000chr18:
8237447-8237461
TTTTTTTTTTTTTTCTintronicDe novo--Yuen2017 G
PTPRM     AU1860301chr18:
8224444-8224444
TAintronicDe novo--Yuen2017 G
PTPRM     AU017703chr18:
7928183-7928183
CTintronicDe novo--Yuen2017 G
PTPRM     AU4188302chr18:
8304331-8304331
CTintronicDe novo--Yuen2017 G
PTPRM     1-0294-003chr18:
7941711-7941711
GCintronicDe novo--Yuen2017 G
PTPRM     21183-33343chr18:
8384558-8384558
GAsplicingInheritedsplicing23.02.0E-4Callaghan2019 G
PTPRM     2-1737-003chr18:
8475661-8475661
GTintergenicDe novo--Yuen2017 G
PTPRM     5-0140-003chr18:
7584969-7584969
CTintronicDe novo--Yuen2017 G
PTPRM     AU2139305chr18:
8225585-8225585
GAintronicDe novo--Yuen2017 G
PTPRM     1-0282-003chr18:
8486561-8486561
CCCCTGGTCTTTACAAAAintergenicDe novo--Yuen2017 G
PTPRM     NDAR_INVDA176HXG_wes1chr18:
8244097-8244097
GAexonicDe novononsynonymous SNVNM_001105244
NM_002845
c.G2342A
c.G2342A
p.R781Q
p.R781Q
35.03.295E-5DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
PTPRM     10C111139chr18:
8376088-8376088
TCexonicDe novosynonymous SNVNM_002845
NM_001105244
c.T3177C
c.T3216C
p.T1059T
p.T1072T
--DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E
PTPRM     1-0290-003chr18:
7943210-7943210
CTintronicDe novo--Yuen2017 G
PTPRM     AU4099301chr18:
8045307-8045310
CTGTCTintronicDe novo--Yuen2017 G
PTPRM     2-0022-003chr18:
8509467-8509467
GAintergenicDe novo--Yuen2017 G
PTPRM     1-0835-003chr18:
8174482-8174482
GAintronicDe novo--Yuen2017 G
PTPRM     1-0336-004chr18:
8437009-8437009
AGintergenicDe novo--Yuen2017 G
PTPRM     1-0498-003chr18:
8212325-8212325
AGintronicDe novo--Yuen2017 G
PTPRM     AU3997302chr18:
7626281-7626281
GAintronicDe novo--Yuen2017 G
PTPRM     2-1339-003chr18:
8217477-8217477
AGintronicDe novo--Yuen2017 G
PTPRM     1-0498-003chr18:
8602010-8602023
CCACACACACACACCCACACACACACintergenicDe novo--Yuen2017 G
PTPRM     AU3858303chr18:
8262669-8262669
GAintronicDe novo--Yuen2017 G
PTPRM     AU3862305chr18:
8353751-8353751
GAintronicDe novo--Yuen2017 G
PTPRM     1-0671-003chr18:
8496257-8496257
CTintergenicDe novo--Yuen2017 G
PTPRM     2-1302-003chr18:
8247160-8247160
GAintronicDe novo--Yuen2017 G
PTPRM     2-1364-003chr18:
8343668-8343668
AGintronicDe novo--Yuen2017 G
PTPRM     1-0413-003chr18:
8408041-8408041
CTintergenicDe novo--Yuen2016 G
Yuen2017 G
PTPRM     1-0357-003chr18:
8522011-8522011
AGintergenicDe novo--Yuen2017 G
PTPRM     1-0834-003chr18:
8370285-8370285
GAintronicDe novo--Yuen2017 G
PTPRM     7-0119-003chr18:
7917283-7917283
GAintronicDe novo--Yuen2017 G
PTPRM     08C76897chr18:
8069950-8069950
CTexonicDe novononsynonymous SNVNM_001105244
NM_002845
c.C1399T
c.C1399T
p.R467W
p.R467W
16.381.667E-5Satterstrom2020 E
PTPRM     A5chr18:
7939788-7939788
CTintronicDe novo--Wu2018 G
PTPRM     2-1567-004chr18:
7610587-7610589
CATCintronicDe novo--Yuen2017 G
PTPRM     AU2410301chr18:
8064272-8064272
AGintronicDe novo--Yuen2017 G
PTPRM     2-1736-003chr18:
8519710-8519710
ACintergenicDe novo--Yuen2017 G
PTPRM     2-1094-005chr18:
7737456-7737456
GAintronicDe novo--Yuen2017 G
PTPRM     AU072904chr18:
7894941-7894941
TGintronicDe novo--Yuen2017 G
PTPRM     2-0272-004chr18:
8179533-8179533
TCintronicDe novo--Yuen2017 G
PTPRM     AU3727303chr18:
7922114-7922114
AGintronicDe novo--Yuen2017 G
PTPRM     AU066206chr18:
7889071-7889071
AGintronicDe novo--Yuen2017 G
PTPRM     1-0403-003chr18:
8524765-8524765
CAintergenicDe novo--Yuen2017 G
PTPRM     12540.p1chr18:
8247997-8247997
GAintronicMosaic--Dou2017 E
PTPRM     AU0638302chr18:
8452498-8452498
GAintergenicDe 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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