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Results for "CTCF"

Variant Events: 38

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-Antaki2022 GE
Fu2022 E
Lim2017 E
Trost2022 G
CTCF     SP0082557chr16:
67645266-67645273
ACTAGAACAexonicDe novoframeshift deletionNM_006565c.532_538delp.L178fs--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
CTCF     13515.p1chr16:
67596849-67596849
AGintronicDe novo--Turner2016 G
CTCF     SF0033047.p1chr16:
67645506-67645510
TAAAATexonicframeshift deletionNM_006565c.772_775delp.K258fs--Wang2020 T
CTCF     1-0113-003chr16:
67661018-67661018
CTintronicDe novo--Yuen2016 G
CTCF     SF0082557.p1chr16:
67645266-67645273
ACTAGAACAexonicframeshift deletionNM_006565c.532_538delp.L178fs--Wang2020 T
CTCF     14346.p1 Complex Event; expand row to view variants  De novo, Unknownframeshift 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
Lowther2023 G
Satterstrom2020 E
Wang2020 T
Wilfert2021 G
Zhou2022 GE
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
Zhou2022 GE
CTCF     SF0035070.p2chr16:
67645864-67645864
GCexonicnonsynonymous SNVNM_006565c.G792Cp.K264N17.85-Wang2020 T
CTCF     SP0035071chr16:
67645864-67645864
GCexonicDe novononsynonymous SNVNM_006565c.G792Cp.K264N17.85-Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
CTCF     SP0033047chr16:
67645506-67645510
TAAAATexonicDe novoframeshift deletionNM_006565c.772_775delp.K258fs--Antaki2022 GE
Fu2022 E
Trost2022 G
Zhou2022 GE
CTCF     AU4452302chr16:
67619037-67619037
CGintronicDe novo--Trost2022 G
Yuen2017 G
CTCF     REACH000564chr16:
67663436-67663436
GTexonicDe novostopgainNM_001191022
NM_006565
c.G853T
c.G1837T
p.E285X
p.E613X
39.0-Antaki2022 GE
Trost2022 G
Zhou2022 GE
CTCF     63-449chr16:
67669454-67669454
CTintronicInherited--Michaelson2012 G
CTCF     SSC11413chr16:
67650748-67650748
CCAexonicDe novoframeshift insertionNM_001191022
NM_006565
c.70dupA
c.1054dupA
p.F23fs
p.F351fs
--Antaki2022 GE
Trost2022 G
CTCF     2-1721-003chr16:
67651007-67651007
AGintronicDe novo--Trost2022 G
Yuen2017 G
CTCF     TASC_211-5234-3chr16:
67671596-67671596
GAexonicPaternalnonsynonymous SNVNM_001191022
NM_006565
c.G1021A
c.G2005A
p.A341T
p.A669T
21.5-Wang2020 T
CTCF     BCM_9245464chr16:
67654607-67654607
AGexonicDe novononsynonymous SNVNM_001191022
NM_006565
c.A110G
c.A1094G
p.K37R
p.K365R
35.0-Wang2020 T
CTCF     BCM_9229405chr16:
67654642-67654642
CTexonicDe novononsynonymous SNVNM_001191022
NM_006565
c.C145T
c.C1129T
p.R49C
p.R377C
36.0-Wang2020 T
CTCF     H3E8D_01chr16:
67634880-67634880
GAintronicDe novo--Trost2022 G
CTCF     1-0654-003chr16:
67652624-67652624
GAintronicDe novo--Trost2022 G
CTCF     SP0237182chr16:
67650690-67650690
TCexonicDe novononsynonymous SNVNM_001191022
NM_006565
c.T11C
c.T995C
p.V4A
p.V332A
18.74-Trost2022 G
Zhou2022 GE
CTCF     1-0753-003chr16:
67625690-67625690
AGintronicDe novo--Trost2022 G
CTCF     AU2441301chr16:
67626667-67626667
CTintronicDe novo--Trost2022 G
CTCF     1-0388-003chr16:
67652007-67652007
CTintronicDe novo--Trost2022 G
Yuen2017 G
CTCF     1-0906-003 Complex Event; expand row to view variants  De novo--Trost2022 G
Yuen2017 G
CTCF     2-1421-003chr16:
67672731-67672731
TAUTR3De novo--Trost2022 G
Yuen2016 G
Yuen2017 G
CTCF     SP0192525chr16:
67662295-67662295
ACexonicnonsynonymous SNVNM_001191022
NM_006565
c.A557C
c.A1541C
p.K186T
p.K514T
15.18-Zhou2022 GE
CTCF     SMHC02088d000chr16:
67645346-67645350
CAAAGCexonicDe novoframeshift deletionNM_006565c.612_615delp.T204fs--Yuan2023 E
CTCF     SP0314442chr16:
67660581-67660581
GAexonicnonsynonymous SNVNM_001191022
NM_006565
c.G497A
c.G1481A
p.R166H
p.R494H
26.88.607E-6Zhou2022 GE
CTCF     1-0552-004chr16:
67666140-67666140
AGintronicDe novo--Trost2022 G
CTCF     2-1237-004chr16:
67668196-67668196
CTintronicDe novo--Trost2022 G
CTCF     AU3849303chr16:
67628846-67628846
CGintronicDe novo--Trost2022 G
Yuen2017 G
CTCF     AU057405chr16:
67640407-67640407
CTintronicDe novo--Trost2022 G
Yuen2017 G
CTCF     Leuven2_63675045chr16:
67645920-67645920
GAexonicDe novononsynonymous SNVNM_006565c.G848Ap.R283H28.0-Wang2020 T
CTCF     SanDiego_V4U6Nchr16:
67645508-67645512
AAAAGAexonicDe novoframeshift deletionNM_006565c.774_777delp.K258fs--Wang2020 T
CTCF     5-5129-003chr16:
67654689-67654689
CAexonicDe novostopgainNM_001191022
NM_006565
c.C192A
c.C1176A
p.Y64X
p.Y392X
39.0-Trost2022 G
Zhou2022 GE
CTCF     AU3846302chr16:
67638637-67638665
TTTTTTTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTintronicDe 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
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