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Results for "CENPE"

Variant Events: 24

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
CENPE     AU050604chr4:
104196131-104196131
ATintergenicDe novo--Yuen2017 G
CENPE     AU4028302chr4:
104213656-104213656
CTintergenicDe novo--Yuen2017 G
CENPE     1-0373-003chr4:
104196062-104196062
TAintergenicDe novo--Yuen2017 G
CENPE     2-1303-003chr4:
104174914-104174914
GAintergenicDe novo--Yuen2017 G
CENPE     AU2787301chr4:
104189555-104189555
GAintergenicDe novo--Yuen2017 G
CENPE     AU079204chr4:
104193258-104193259
AGAintergenicDe novo--Yuen2017 G
CENPE     iHART2291chr4:
104067180-104067180
CAexonicPaternalstopgainNM_001286734
NM_001813
c.G4144T
c.G4219T
p.E1382X
p.E1407X
43.0-Ruzzo2019 G
CENPE     AU018010chr4:
104162772-104162772
CTintergenicDe novo--Yuen2017 G
CENPE     iHART1192chr4:
104061163-104061163
AATexonicPaternalframeshift insertionNM_001813c.5986dupAp.I1996fs-8.466E-6Ruzzo2019 G
CENPE     AU3057301chr4:
104182608-104182608
ACintergenicDe novo--Yuen2017 G
CENPE     2-1345-003chr4:
104112062-104112062
GAintronicDe novo--Yuen2016 G
Yuen2017 G
CENPE     13437.p1chr4:
104115348-104115348
GAintronicDe novo--Krumm2015 E
Satterstrom2020 E
CENPE     Cukier2014:17678chr4:
104080217-104080217
ACexonicUnknownnonsynonymous SNVNM_001286734
NM_001813
c.T2476G
c.T2551G
p.S826A
p.S851A
11.570.0048Cukier2014 E
CENPE     1-0138-003chr4:
104328419-104328419
AGintergenicDe novo--Yuen2017 G
CENPE     1-0380-003chr4:
104196062-104196062
TAintergenicDe novo--Yuen2017 G
CENPE     2-1594-003chr4:
104027750-104027750
GAintronicDe novo--Yuen2017 G
CENPE     5-0110-003chr4:
104221285-104221285
TCintergenicDe novo--Yuen2017 G
CENPE     AU034903chr4:
104200421-104200421
CAintergenicDe novo--Yuen2017 G
CENPE     11057.p1chr4:
104066794-104066794
CTexonicMosaicsynonymous SNVNM_001286734
NM_001813
c.G4383A
c.G4458A
p.L1461L
p.L1486L
--Krupp2017 E
CENPE     2-1132-003chr4:
104123438-104123443
ATAGAGAintergenicDe novo--Yuen2017 G
CENPE     AU4032305chr4:
104302383-104302383
GTintergenicDe novo--Yuen2017 G
CENPE     2-1160-003chr4:
104101890-104101890
CAintronicDe novo--Yuen2016 G
CENPE     AU3885305chr4:
104065558-104065558
CGexonicDe novononsynonymous SNVNM_001286734
NM_001813
c.G5000C
c.G5075C
p.R1667T
p.R1692T
5.059-Yuen2017 G
CENPE     1-0296-003chr4:
104256947-104256947
CTintergenicDe 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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