Variant Results

or

Results for "CTCF"

Variant Events: 27

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

SSC02815

chr16:
67660530-67660530

A

C

exonic

De novo

nonsynonymous SNV

NM_001191022
NM_006565

c.A446C
c.A1430C

p.H149P
p.H477P

17.66

-

Antaki2022 GE
Fu2022 E
Lim2017 E

CTCF

SP0082557

chr16:
67645266-67645273

ACTAGAAC

A

exonic

De novo

frameshift deletion

NM_006565

c.532_538del

p.L178fs

-

Antaki2022 GE
Fu2022 E

CTCF

13515.p1

chr16:
67596849-67596849

A

G

intronic

De novo

-

Turner2016 G

CTCF

SF0033047.p1

chr16:
67645506-67645510

TAAAA

T

exonic

frameshift deletion

NM_006565

c.772_775del

p.K258fs

-

Wang2020 T

CTCF

1-0113-003

chr16:
67661018-67661018

C

T

intronic

De novo

-

Yuen2016 G

CTCF

SF0082557.p1

chr16:
67645266-67645273

ACTAGAAC

A

exonic

frameshift deletion

NM_006565

c.532_538del

p.L178fs

-

Wang2020 T

CTCF

14346.p1

Complex Event; expand row to view variants

De novo, Unknown

frameshift insertion

NM_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.p1

chr16:
67660530-67660530

A

C

exonic

De novo

nonsynonymous SNV

NM_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

SF0035070.p2

chr16:
67645864-67645864

G

C

exonic

nonsynonymous SNV

NM_006565

c.G792C

p.K264N

17.85

-

Wang2020 T

CTCF

SP0035071

chr16:
67645864-67645864

G

C

exonic

De novo

nonsynonymous SNV

NM_006565

c.G792C

p.K264N

17.85

-

Antaki2022 GE
Fu2022 E

CTCF

SP0033047

chr16:
67645506-67645510

TAAAA

T

exonic

De novo

frameshift deletion

NM_006565

c.772_775del

p.K258fs

-

Antaki2022 GE
Fu2022 E

CTCF

AU4452302

chr16:
67619037-67619037

C

G

intronic

De novo

-

Yuen2017 G

CTCF

REACH000564

chr16:
67663436-67663436

G

T

exonic

stopgain

NM_001191022
NM_006565

c.G853T
c.G1837T

p.E285X
p.E613X

39.0

-

Antaki2022 GE

CTCF

63-449

chr16:
67669454-67669454

C

T

intronic

Inherited

-

Michaelson2012 G

CTCF

SSC11413

chr16:
67650748-67650748

C

CA

exonic

frameshift insertion

NM_001191022
NM_006565

c.70dupA
c.1054dupA

p.F23fs
p.F351fs

-

Antaki2022 GE

CTCF

2-1721-003

chr16:
67651007-67651007

A

G

intronic

De novo

-

Yuen2017 G

CTCF

TASC_211-5234-3

chr16:
67671596-67671596

G

A

exonic

Paternal

nonsynonymous SNV

NM_001191022
NM_006565

c.G1021A
c.G2005A

p.A341T
p.A669T

21.5

-

Wang2020 T

CTCF

BCM_9245464

chr16:
67654607-67654607

A

G

exonic

De novo

nonsynonymous SNV

NM_001191022
NM_006565

c.A110G
c.A1094G

p.K37R
p.K365R

35.0

-

Wang2020 T

CTCF

BCM_9229405

chr16:
67654642-67654642

C

T

exonic

De novo

nonsynonymous SNV

NM_001191022
NM_006565

c.C145T
c.C1129T

p.R49C
p.R377C

36.0

-

Wang2020 T

CTCF

1-0388-003

chr16:
67652007-67652007

C

T

intronic

De novo

-

Yuen2017 G

CTCF

1-0906-003

chr16:
67640129-67640142

ATGTATTTATTGTA

ATGTA

intronic

De novo

-

Yuen2017 G

CTCF

2-1421-003

chr16:
67672731-67672731

T

A

UTR3

De novo

-

Yuen2016 G
Yuen2017 G

CTCF

AU3849303

chr16:
67628846-67628846

C

G

intronic

De novo

-

Yuen2017 G

CTCF

AU057405

chr16:
67640407-67640407

C

T

intronic

De novo

-

Yuen2017 G

CTCF

Leuven2_63675045

chr16:
67645920-67645920

G

A

exonic

De novo

nonsynonymous SNV

NM_006565

c.G848A

p.R283H

28.0

-

Wang2020 T

CTCF

SanDiego_V4U6N

chr16:
67645508-67645512

AAAAG

A

exonic

De novo

frameshift deletion

NM_006565

c.774_777del

p.K258fs

-

Wang2020 T

CTCF

AU3846302

chr16:
67638637-67638665

TTTTTTTTTTTGTTTTTTGTTTTTTTTTT

TTTTTTTTTTT

intronic

De novo

-

Yuen2017 G

Source Variant Information

, -

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 notes	View
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