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Results for "CTCF"

Variant Events: 21

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
CTCF     SSC02815chr16:
67660530-67660530
ACexonicDe novononsynonymous SNVNM_001191022
NM_006565
c.A446C
c.A1430C
p.H149P
p.H477P
17.66-Lim2017 E
CTCF     13515.p1chr16:
67596849-67596849
AGintronicDe novo--Turner2016 G
CTCF     1-0388-003chr16:
67652007-67652007
CTintronicDe novo--Yuen2017 G
CTCF     1-0906-003chr16:
67640129-67640142
ATGTATTTATTGTAATGTAintronicDe novo--Yuen2017 G
CTCF     2-1421-003chr16:
67672731-67672731
TAUTR3De novo--Yuen2016 G
Yuen2017 G
CTCF     1-0113-003chr16:
67661018-67661018
CTintronicDe novo--Yuen2016 G
CTCF     14346.p1 Complex Event; expand row to view variants  De novoframeshift insertionNM_001191022
NM_006565
NM_001191022
NM_006565
c.70dupA
c.1054dupA
c.70dupA
c.1054dupA
p.F23fs
p.F351fs
p.K24fs
p.K352fs
--Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
CTCF     11776.p1chr16:
67660530-67660530
ACexonicDe novononsynonymous SNVNM_001191022
NM_006565
c.A446C
c.A1430C
p.H149P
p.H477P
17.66-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
CTCF     AU4452302chr16:
67619037-67619037
CGintronicDe novo--Yuen2017 G
CTCF     63-449chr16:
67669454-67669454
CTintronicInherited--Michaelson2012 G
CTCF     SF0035070.p2chr16:
67645864-67645864
GCexonicDe novononsynonymous SNVNM_006565c.G792Cp.K264N17.85-Wang2020 T
CTCF     BK405.03chr16:
67650724-67650724
CAexonicUnknownstopgainNM_001191022
NM_006565
c.C45A
c.C1029A
p.Y15X
p.Y343X
37.0-Wang2020 T
CTCF     SF0033047.p1chr16:
67645506-67645510
TAAAATexonicDe novoframeshift deletionNM_006565c.772_775delp.K258fs--Wang2020 T
CTCF     2-1721-003chr16:
67651007-67651007
AGintronicDe novo--Yuen2017 G
CTCF     AU3849303chr16:
67628846-67628846
CGintronicDe novo--Yuen2017 G
CTCF     SF0082557.p1chr16:
67645266-67645273
ACTAGAACAexonicDe novoframeshift deletionNM_006565c.532_538delp.L178fs--Wang2020 T
CTCF     AU057405chr16:
67640407-67640407
CTintronicDe novo--Yuen2017 G
CTCF     V4U6Nchr16:
67645508-67645512
AAAAGAexonicDe novoframeshift deletionNM_006565c.774_777delp.K258fs--Wang2020 T
Wang2020 T
Wang2020 T
CTCF     211-5234-3chr16:
67671596-67671596
GAexonicPaternalnonsynonymous SNVNM_001191022
NM_006565
c.G1021A
c.G2005A
p.A341T
p.A669T
21.5-Wang2020 T
Wang2020 T
Wang2020 T
CTCF     63675045chr16:
67645920-67645920
GAexonicDe novononsynonymous SNVNM_006565c.G848Ap.R283H28.0-Wang2020 T
Wang2020 T
Wang2020 T
CTCF     AU3846302chr16:
67638637-67638665
TTTTTTTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTintronicDe novo--Yuen2017 G
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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