Variant Results

or

Results for "FBXO11"

Variant Events: 41

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

FBXO11

1-0261-004

chr2:
48095136-48095136

G

A

intronic

De novo

-

Yuen2017 G

FBXO11

1-0261-004

chr2:
48093847-48093847

G

A

intronic

De novo

-

Yuen2017 G

FBXO11

1-0756-004

chr2:
48065523-48065523

T

TA

intronic

De novo

-

Yuen2017 G

FBXO11

3-0111-000

chr2:
48351387-48351387

C

T

intergenic

De novo

-

Yuen2016 G

FBXO11

1-0246-004

chr2:
48523996-48523996

C

T

intergenic

De novo

-

Yuen2017 G

FBXO11

2-1244-003

chr2:
48483853-48483853

A

T

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FBXO11

2-0144-003

chr2:
48451610-48451610

G

C

intergenic

De novo

-

Yuen2017 G

FBXO11

2-0306-004

chr2:
48370339-48370339

G

C

intergenic

De novo

-

Yuen2017 G

FBXO11

A51

chr2:
48037458-48037458

C

T

exonic

De novo

nonsynonymous SNV

NM_001190274
NM_025133

c.G2335A
c.G2083A

p.A779T
p.A695T

35.0

-

Jiao2019 E

FBXO11

2-1220-003

chr2:
48179146-48179146

T

C

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FBXO11

1-0010-005

chr2:
48376078-48376078

C

T

intergenic

De novo

-

Yuen2017 G

FBXO11

161269

chr2:
48037545-48037548

TATC

T

exonic

De novo

nonframeshift deletion

NM_001190274
NM_025133

c.2245_2247del
c.1993_1995del

p.749_749del
p.665_665del

-

Fu2022 E

FBXO11

1-0285-003

chr2:
48516186-48516186

G

A

intergenic

De novo

-

Yuen2017 G

FBXO11

2-1086-004

chr2:
48289084-48289085

GT

G

intergenic

De novo

-

Yuen2017 G

FBXO11

AU078503

chr2:
48242062-48242062

T

C

intergenic

De novo

-

Yuen2017 G

FBXO11

A25

chr2:
48468141-48468141

T

C

intergenic

De novo

-

Wu2018 G

FBXO11

Krgovic2022:039934

chr2:
48059949-48059949

C

A

exonic

Unknown

nonsynonymous SNV

NM_001190274
NM_025133

c.G1112T
c.G860T

p.S371I
p.S287I

23.9

-

Krgovic2022 E

FBXO11

1-0045-004

chr2:
48181510-48181510

G

GCACTC

intergenic

De novo

-

Yuen2017 G

FBXO11

2-1486-003

chr2:
48128136-48128138

CGG

CG

intronic

De novo

-

Yuen2017 G

FBXO11

AU2433302

chr2:
48318909-48318909

C

A

intergenic

De novo

-

Yuen2017 G

FBXO11

SSC02723

chr2:
48040938-48040938

T

A

exonic

De novo

nonsynonymous SNV

NM_001190274
NM_025133

c.A2075T
c.A1823T

p.Y692F
p.Y608F

25.2

-

Antaki2022 GE
Fu2022 E
Lim2017 E

FBXO11

2-1736-003

chr2:
48268528-48268528

G

C

intergenic

De novo

-

Yuen2017 G

FBXO11

SP0047504

chr2:
48063068-48063068

C

T

exonic

De novo

synonymous SNV

NM_001190274
NM_025133

c.G660A
c.G408A

p.Q220Q
p.Q136Q

7.132

-

Fu2022 E

FBXO11

1-0547-003

chr2:
48166342-48166342

C

G

intergenic

De novo

-

Yuen2017 G

FBXO11

AU3716301

chr2:
48403130-48403130

C

G

intergenic

De novo

-

Yuen2017 G

FBXO11

SP0050670

chr2:
48132664-48132664

G

A

exonic

De novo

nonsynonymous SNV

NM_001190274

c.C196T

p.P66S

8.833

-

Fu2022 E

FBXO11

2-1370-003

chr2:
48501243-48501243

G

A

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FBXO11

2-1438-003

chr2:
48135683-48135683

A

G

intergenic

De novo

-

Yuen2016 G
Yuen2017 G

FBXO11

2-0319-003

chr2:
48052920-48052920

C

T

intronic

De novo

-

Yuen2017 G

FBXO11

1-0559-004

chr2:
48416274-48416274

T

G

intergenic

De novo

-

Yuen2017 G

FBXO11

7-0102-003

chr2:
48049533-48049533

A

T

intronic

De novo

-

Yuen2017 G

FBXO11

AU3918301

chr2:
48144514-48144514

G

A

intergenic

De novo

-

Yuen2017 G

FBXO11

13810.p1

chr2:
48035295-48035297

CAG

C

exonic

De novo

frameshift deletion

NM_001190274
NM_025133

c.2744_2745del
c.2492_2493del

p.S915fs
p.S831fs

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G

FBXO11

11483.p1

chr2:
48040938-48040938

T

A

exonic

De novo

nonsynonymous SNV

NM_001190274
NM_025133

c.A2075T
c.A1823T

p.Y692F
p.Y608F

25.2

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E

FBXO11

2-1427-003

chr2:
48492820-48492820

G

A

intergenic

De novo

-

Yuen2017 G

FBXO11

1-0259-003

chr2:
48041690-48041690

G

T

intronic

De novo

-

Yuen2017 G

FBXO11

AU4013303

chr2:
48404831-48404831

G

A

intergenic

De novo

-

Yuen2017 G

FBXO11

2-1737-003

chr2:
48150242-48150248

AAAGAGA

AA

intergenic

De novo

-

Yuen2017 G

FBXO11

1-0389-004

chr2:
48530696-48530696

C

CTGGAGTGCAGTGTCGCAA

intergenic

De novo

-

Yuen2017 G

FBXO11

1030

chr2:
48047587-48047587

A

T

exonic

nonsynonymous SNV

NM_001190274
NM_025133

c.T1711A
c.T1459A

p.L571I
p.L487I

22.0

-

Antaki2022 GE

FBXO11

SSC09737

chr2:
48035295-48035297

CAG

C

exonic

De novo

frameshift deletion

NM_001190274
NM_025133

c.2744_2745del
c.2492_2493del

p.S915fs
p.S831fs

-

Antaki2022 GE
Fu2022 E

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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