Variant Results

or

Results for "DIP2A"

Variant Events: 46

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

DIP2A

1-0483-003

chr21:
47969039-47969056

TTGTGTGTGTGTGTGTGT

TTGTGTGTGTGTGTGT

intronic

De novo

-

Yuen2017 G

DIP2A

13012.p1

Complex Event; expand row to view variants

De novo

frameshift insertion

NM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891
NM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891

c.1706_1707insCTGGTCT
c.1823_1824insCTGGTCT
c.1835_1836insCTGGTCT
c.1835_1836insCTGGTCT
c.1835_1836insCTGGTCT
c.1835_1836insCTGGTCT
c.1707_1708insCTGGTCT
c.1824_1825insCTGGTCT
c.1836_1837insCTGGTCT
c.1836_1837insCTGGTCT
c.1836_1837insCTGGTCT
c.1836_1837insCTGGTCT

p.H569fs
p.H608fs
p.H612fs
p.H612fs
p.H612fs
p.H612fs
p.H569fs
p.H608fs
p.H612fs
p.H612fs
p.H612fs
p.H612fs

-

Dong2014 E
Iossifov2012 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Willsey2013 E

DIP2A

U5C5L

chr21:
47986571-47986571

C

T

exonic

Inherited

stopgain

NM_001146116
NM_015151

c.C4426T
c.C4438T

p.R1476X
p.R1480X

45.0

1.653E-5

Stessman2017 T

DIP2A

03C17126

chr21:
47986534-47986534

G

A

exonic

Unknown

nonsynonymous SNV

NM_001146116
NM_015151

c.G4389A
c.G4401A

p.M1463I
p.M1467I

24.4

-

Stessman2017 T

DIP2A

Y4R4M

chr21:
47971600-47971600

G

A

exonic

Inherited

nonsynonymous SNV

NM_001146116
NM_015151

c.G2881A
c.G2893A

p.A961T
p.A965T

34.0

2.503E-5

Stessman2017 T

DIP2A

Mahjani2021:143

chr21:
47985660-47985660

A

C

exonic

nonsynonymous SNV

NM_001146116
NM_015151

c.A4187C
c.A4199C

p.Y1396S
p.Y1400S

19.3

8.335E-6

Mahjani2021 E

DIP2A

13012.p1

chr21:
47957426-47957426

G

A

exonic

De novo

stopgain

NM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891

c.G1646A
c.G1763A
c.G1775A
c.G1775A
c.G1775A
c.G1775A

p.W549X
p.W588X
p.W592X
p.W592X
p.W592X
p.W592X

40.0

-

Willsey2013 E

DIP2A

G01-GEA-206-HI

chr21:
47980694-47980694

C

A

exonic

De novo

nonsynonymous SNV

NM_001146116
NM_015151

c.C4017A
c.C4029A

p.D1339E
p.D1343E

22.3

-

Fu2022 E
Satterstrom2020 E

DIP2A

M23809

chr21:
47969788-47969788

G

A

exonic

Unknown

nonsynonymous SNV

NM_001146116
NM_015151
NM_206889

c.G2615A
c.G2627A
c.G2627A

p.R872H
p.R876H
p.R876H

28.3

3.311E-5

Stessman2017 T

DIP2A

GX0050.p1

chr21:
47980662-47980662

G

A

exonic

Paternal

nonsynonymous SNV

NM_001146116
NM_015151

c.G3985A
c.G3997A

p.V1329I
p.V1333I

35.0

-

Guo2018 T

DIP2A

GX0143.p1

chr21:
47970534-47970534

G

A

exonic

Paternal

nonsynonymous SNV

NM_001146116
NM_015151

c.G2704A
c.G2716A

p.G902R
p.G906R

31.0

2.545E-5

Guo2018 T

DIP2A

214-17082-1

chr21:
47985759-47985759

T

G

exonic

Unknown

nonsynonymous SNV

NM_001146116
NM_015151

c.T4286G
c.T4298G

p.L1429R
p.L1433R

27.8

-

Stessman2017 T

DIP2A

Mahjani2021:96

chr21:
47976006-47976006

T

C

splicing

15.5

-

Mahjani2021 E

DIP2A

08C78396

chr21:
47969804-47969804

C

T

exonic

De novo

synonymous SNV

NM_206889

c.C2643T

p.G881G

-

4.986E-5

Fu2022 E
Satterstrom2020 E

DIP2A

229592

chr21:
47957357-47957357

A

G

splicing

Inherited

splicing

15.93

-

Stessman2017 T

DIP2A

215-13111-1283

chr21:
47958420-47958420

G

A

exonic

Unknown

nonsynonymous SNV

NM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891

c.G1697A
c.G1814A
c.G1826A
c.G1826A
c.G1826A
c.G1826A

p.R566Q
p.R605Q
p.R609Q
p.R609Q
p.R609Q
p.R609Q

35.0

-

Stessman2017 T

DIP2A

J3P5S

Complex Event; expand row to view variants

Unknown

nonsynonymous SNV

NM_001146116
NM_015151
NM_001146116
NM_015151

c.G4591T
c.G4603T
c.G4591A
c.G4603A

p.V1531L
p.V1535L
p.V1531M
p.V1535M

26.4

8.256E-6

Stessman2017 T
Stessman2017 T

DIP2A

318661

chr21:
47966883-47966883

G

A

exonic

Unknown

nonsynonymous SNV

NM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890

c.G2321A
c.G2438A
c.G2450A
c.G2450A
c.G2450A

p.R774H
p.R813H
p.R817H
p.R817H
p.R817H

27.5

3.345E-5

Stessman2017 T

DIP2A

AU3782303

chr21:
47907466-47907466

A

G

intronic

De novo

-

Yuen2017 G

DIP2A

12388.p1

chr21:
47975854-47975854

A

G

intronic

Mosaic, De novo

-

Dou2017 E
Satterstrom2020 E

DIP2A

217-14414-5230

chr21:
47981687-47981687

C

T

exonic

Unknown

nonsynonymous SNV

NM_001146116
NM_015151

c.C4046T
c.C4058T

p.P1349L
p.P1353L

24.2

8.281E-6

Stessman2017 T

DIP2A

Husson2020:301

chr21:
47953562-47953562

T

G

splicing

Maternal

splicing

19.38

-

Husson2020 E

DIP2A

M3Z4Q

chr21:
47958398-47958398

C

T

exonic

Unknown

nonsynonymous SNV

NM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891

c.C1675T
c.C1792T
c.C1804T
c.C1804T
c.C1804T
c.C1804T

p.R559W
p.R598W
p.R602W
p.R602W
p.R602W
p.R602W

17.02

-

Stessman2017 T

DIP2A

05C48980

chr21:
47971556-47971556

C

A

exonic

Unknown

nonsynonymous SNV

NM_001146116
NM_015151

c.C2837A
c.C2849A

p.P946Q
p.P950Q

26.9

-

Stessman2017 T

DIP2A

AU0786305

chr21:
47910609-47910609

C

T

exonic

De novo

nonsynonymous SNV

NM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891

c.C260T
c.C260T
c.C260T
c.C260T
c.C260T
c.C260T

p.S87L
p.S87L
p.S87L
p.S87L
p.S87L
p.S87L

14.11

-

Yuen2017 G

DIP2A

13106.p1

chr21:
47957426-47957426

G

A

exonic

De novo

stopgain

NM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891

c.G1646A
c.G1763A
c.G1775A
c.G1775A
c.G1775A
c.G1775A

p.W549X
p.W588X
p.W592X
p.W592X
p.W592X
p.W592X

40.0

-

Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Lim2017 E
Satterstrom2020 E

DIP2A

215-13253-2793

chr21:
47970643-47970643

G

A

exonic

Unknown

nonsynonymous SNV

NM_001146116
NM_015151

c.G2813A
c.G2825A

p.R938H
p.R942H

29.9

1.687E-5

Stessman2017 T

DIP2A

13106_p1

chr21:
47957426-47957426

G

A

exonic

De novo

stopgain

NM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891

c.G1646A
c.G1763A
c.G1775A
c.G1775A
c.G1775A
c.G1775A

p.W549X
p.W588X
p.W592X
p.W592X
p.W592X
p.W592X

40.0

-

Fu2022 E

DIP2A

AU1497302

chr21:
47971556-47971556

C

A

exonic

Unknown

nonsynonymous SNV

NM_001146116
NM_015151

c.C2837A
c.C2849A

p.P946Q
p.P950Q

26.9

-

Stessman2017 T

DIP2A

M16119

chr21:
47929170-47929170

G

T

exonic

Unknown

nonsynonymous SNV

NM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891

c.G656T
c.G785T
c.G785T
c.G785T
c.G785T
c.G785T

p.G219V
p.G262V
p.G262V
p.G262V
p.G262V
p.G262V

18.01

1.68E-5

Stessman2017 T

DIP2A

AU2950302

chr21:
48012027-48012027

A

T

intergenic

De novo

-

Yuen2017 G

DIP2A

2-1567-004

chr21:
47910199-47910199

A

G

intronic

De novo

-

Yuen2017 G

DIP2A

GX0179.p1

chr21:
47970576-47970576

G

A

exonic

Unknown

nonsynonymous SNV

NM_001146116
NM_015151

c.G2746A
c.G2758A

p.G916R
p.G920R

32.0

8.345E-6

Guo2018 T

DIP2A

M23169

chr21:
47958483-47958483

G

A

exonic

Paternal

nonsynonymous SNV

NM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891

c.G1760A
c.G1877A
c.G1889A
c.G1889A
c.G1889A
c.G1889A

p.R587H
p.R626H
p.R630H
p.R630H
p.R630H
p.R630H

34.0

3.877E-5

Wang2016 T

DIP2A

219-2356-0001

chr21:
47987382-47987386

GCTGG

G

exonic

Paternal

frameshift deletion

NM_001146116
NM_015151

c.4552_4555del
c.4564_4567del

p.L1518fs
p.L1522fs

-

Stessman2017 T

DIP2A

SSC07324

chr21:
47957426-47957426

G

A

exonic

stopgain

NM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891

c.G1646A
c.G1763A
c.G1775A
c.G1775A
c.G1775A
c.G1775A

p.W549X
p.W588X
p.W592X
p.W592X
p.W592X
p.W592X

40.0

-

Antaki2022 GE

DIP2A

219-2343-1

chr21:
47985714-47985714

T

C

exonic

Unknown

nonsynonymous SNV

NM_001146116
NM_015151

c.T4241C
c.T4253C

p.L1414P
p.L1418P

26.3

-

Stessman2017 T

DIP2A

SSC06471

chr21:
47958429-47958429

A

ACTGGTCT

exonic

De novo

frameshift insertion

NM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891

c.1706_1707insCTGGTCT
c.1823_1824insCTGGTCT
c.1835_1836insCTGGTCT
c.1835_1836insCTGGTCT
c.1835_1836insCTGGTCT
c.1835_1836insCTGGTCT

p.H569fs
p.H608fs
p.H612fs
p.H612fs
p.H612fs
p.H612fs

-

Antaki2022 GE
Fu2022 E

DIP2A

DEASD_0074_001

chr21:
47976938-47976938

C

T

exonic

De novo

synonymous SNV

NM_001146116
NM_015151

c.C3573T
c.C3585T

p.L1191L
p.L1195L

-

DeRubeis2014 E
Kosmicki2017 E
Satterstrom2020 E

DIP2A

SP0036213

chr21:
47971731-47971731

G

A

intronic

De novo

-

2.904E-5

Fu2022 E

DIP2A

SP0025437

chr21:
47966967-47966967

C

T

UTR3

De novo

-

Fu2022 E

DIP2A

Stessman2017:ASD_1022-1

chr21:
47957453-47957453

G

A

splicing

Inherited

splicing

26.8

-

Stessman2017 T

DIP2A

SP0053403

chr21:
47974721-47974721

C

G

intronic

De novo

-

Fu2022 E

DIP2A

M21462

chr21:
47958483-47958483

G

A

exonic

Maternal

nonsynonymous SNV

NM_001146115
NM_001146116
NM_015151
NM_206889
NM_206890
NM_206891

c.G1760A
c.G1877A
c.G1889A
c.G1889A
c.G1889A
c.G1889A

p.R587H
p.R626H
p.R630H
p.R630H
p.R630H
p.R630H

34.0

3.877E-5

Wang2016 T

DIP2A

SP0099141

chr21:
47971679-47971679

G

A

intronic

De novo

-

3.549E-5

Fu2022 E

DIP2A

SP0124673

chr21:
47969849-47969849

C

T

UTR3

De novo

-

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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