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Results for "CPS1"

Variant Events: 65

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
CPS1     2-1422-003chr2:
212154506-212154506
GAintergenicDe novo--Yuen2017 G
CPS1     AU005214chr2:
211607711-211607711
AGintergenicDe novo--Yuen2017 G
CPS1     2-1348-003chr2:
212029437-212029446
GGAGAGAGAGGGAGAGAGAGAGintergenicDe novo--Yuen2017 G
CPS1     1-0969-003chr2:
211924503-211924503
CTintergenicDe novo--Yuen2017 G
CPS1     1-0498-003chr2:
211494187-211494187
TCintronicDe novo--Yuen2017 G
CPS1     2-1389-003chr2:
212121878-212121878
ATintergenicDe novo--Yuen2016 G
Yuen2017 G
CPS1     AU3858303 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
CPS1     AU071804chr2:
211807526-211807526
GAintergenicDe novo--Yuen2017 G
CPS1     2-1417-003chr2:
211728143-211728143
CTintergenicDe novo--Yuen2017 G
CPS1     AU065304chr2:
211342892-211342892
CTintronicDe novo--Trost2022 G
Yuen2017 G
CPS1     AU3175302chr2:
211811001-211811001
CTintergenicDe novo--Yuen2017 G
CPS1     AU3903302chr2:
211375049-211375049
AGintronicDe novo--Yuen2017 G
CPS1     AU3808304chr2:
211852082-211852082
AGintergenicDe novo--Yuen2017 G
CPS1     NDAR_INVUH366DLU_wes1chr2:
211466977-211466977
CTexonicDe novononsynonymous SNVNM_001122634
NM_001875
NM_001122633
c.C406T
c.C1759T
c.C1777T
p.R136C
p.R587C
p.R593C
23.8-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
CPS1     AU2216201chr2:
211422053-211422053
TCintronicDe novo--Trost2022 G
CPS1     2-0016-003chr2:
212168309-212168309
TCintergenicDe novo--Yuen2017 G
CPS1     2-0129-004chr2:
211446457-211446457
GAintronicDe novo--Trost2022 G
CPS1     AU3984302chr2:
212024523-212024523
TAintergenicDe novo--Yuen2017 G
CPS1     10-0007-003chr2:
211400907-211400907
TCintronicDe novo--Trost2022 G
CPS1     10-0007-003chr2:
211410804-211410804
GTintronicDe novo--Trost2022 G
CPS1     REACH000387chr2:
211378638-211378638
GCintronicDe novo--Trost2022 G
CPS1     3-0376-000chr2:
211388873-211388873
TCintronicDe novo--Trost2022 G
CPS1     1-0233-004chr2:
211690460-211690474
GTCAAACATTTTCCAGintergenicDe novo--Yuen2017 G
CPS1     AU047703chr2:
212196355-212196355
GAintergenicDe novo--Yuen2017 G
CPS1     1-0288-004chr2:
211539420-211539420
ATintronicDe novo--Trost2022 G
CPS1     1-0203-004chr2:
211683906-211683909
CTTTCintergenicDe novo--Yuen2017 G
CPS1     1-0347-003chr2:
211425037-211425037
GAintronicDe novo--Trost2022 G
Yuen2017 G
CPS1     2-1131-003chr2:
211545980-211545980
AGintergenicDe novo--Yuen2016 G
Yuen2017 G
CPS1     7-0389-003chr2:
211542424-211542424
TCintronicDe novo--Trost2022 G
CPS1     SP0048964chr2:
211518742-211518742
GAintronicDe novo-0.0017Trost2022 G
CPS1     MSSNG00424-003chr2:
211522514-211522514
ACintronicDe novo--Trost2022 G
CPS1     2-1505-004chr2:
212008493-212008493
GAintergenicDe novo--Yuen2017 G
CPS1     1-0945-003chr2:
211471446-211471446
GCintronicDe novo--Trost2022 G
CPS1     2-0006-004chr2:
211988950-211988950
CCATGTAAAGTAintergenicDe novo--Yuen2017 G
CPS1     4-0062-003chr2:
211456846-211456847
CCTGintronicDe novo--Trost2022 G
CPS1     4-0062-003chr2:
211456850-211456850
CAintronicDe novo--Trost2022 G
CPS1     SP0078543chr2:
211458425-211458425
TTGCAGAAAGAAAGCintronicDe novo--Fu2022 E
CPS1     SP0071614chr2:
211476964-211476964
CTexonicDe novononsynonymous SNVNM_001122634
NM_001875
NM_001122633
c.C1162T
c.C2515T
c.C2533T
p.L388F
p.L839F
p.L845F
13.448.254E-6Fu2022 E
Trost2022 G
Zhou2022 GE
CPS1     SP0150006chr2:
211512542-211512542
TCintronicDe novo--Fu2022 E
Trost2022 G
CPS1     AU3190305chr2:
212192985-212192985
AGintergenicDe novo--Yuen2017 G
CPS1     1-0699-003chr2:
211850855-211850855
GTintergenicDe novo--Yuen2017 G
CPS1     1-0380-003chr2:
211539061-211539061
GAintronicDe novo--Trost2022 G
Yuen2017 G
CPS1     1-0051-005chr2:
211641398-211641398
GAintergenicDe novo--Yuen2017 G
CPS1     AU3779304chr2:
212080032-212080032
CGintergenicDe novo--Yuen2017 G
CPS1     1-0534-003chr2:
211826090-211826090
GTintergenicDe novo--Yuen2017 G
CPS1     2-0122-003chr2:
212231117-212231117
GAintergenicDe novo--Yuen2017 G
CPS1     2-0300-004chr2:
212135566-212135567
CACintergenicDe novo--Yuen2017 G
CPS1     2-0300-004chr2:
211719269-211719269
ACintergenicDe novo--Yuen2017 G
CPS1     1-0972-003chr2:
211744054-211744054
GAintergenicDe novo--Yuen2017 G
CPS1     AU3913302chr2:
211572790-211572790
GCintergenicDe novo--Yuen2017 G
CPS1     1-0197-003chr2:
211836979-211836979
AGintergenicDe novo--Yuen2017 G
CPS1     Wang2023:328chr2:
211469942-211469942
ACexonicDe novononsynonymous SNVNM_001122634
NM_001875
NM_001122633
c.A600C
c.A1953C
c.A1971C
p.E200D
p.E651D
p.E657D
18.76-Wang2023 E
CPS1     AU3811301chr2:
211648924-211648924
CTintergenicDe novo--Yuen2017 G
CPS1     5-0137-003chr2:
212077206-212077206
TTCGTCGintergenicDe novo--Yuen2017 G
CPS1     SP0034120chr2:
211460155-211460155
GTintronicDe novo--Fu2022 E
CPS1     2-0036-003chr2:
212168309-212168309
TCintergenicDe novo--Yuen2016 G
CPS1     2-0006-003chr2:
211988950-211988950
CCATGTAAAGTAintergenicDe novo--Yuen2017 G
CPS1     2-1605-003chr2:
212092994-212092994
CTintergenicDe novo--Yuen2017 G
CPS1     1-0274-003chr2:
211988950-211988950
CCATGTAAAGTAintergenicDe novo--Yuen2017 G
CPS1     1-0206-003chr2:
212234211-212234211
CTintergenicDe novo--Yuen2017 G
CPS1     63-449chr2:
211700047-211700047
TCintergenicDe novo--Michaelson2012 G
CPS1     1-0358-003chr2:
211371196-211371204
GCGCCTCTTGintronicDe novo--Yuen2017 G
CPS1     1-0201-004chr2:
211404186-211404186
GAintronicDe novo--Trost2022 G
Yuen2017 G
CPS1     AU3809302chr2:
211401868-211401868
AGintronicDe novo--Trost2022 G
Yuen2017 G
CPS1     09C83070chr2:
211438019-211438019
CTintronicDe novo--Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
Source Variant Information

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Source:

Paper alias:

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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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