Variant Results

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Results for "GPR139"

Variant Events: 20

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

GPR139

PN400527

chr16:
20043060-20043060

C

T

exonic

De novo

synonymous SNV

NM_001002911

c.G1059A

p.P353P

-

Leblond2019 E

GPR139

2-0299-003

chr16:
20182529-20182529

C

T

intergenic

De novo

-

-

Yuen2017 G

GPR139

1-0385-003

chr16:
20237197-20237197

G

C

intergenic

De novo

-

-

Yuen2017 G

GPR139

1-0625-003

chr16:
20267020-20267020

C

T

intergenic

De novo

-

-

Yuen2017 G

GPR139

1-0559-005

chr16:
20248173-20248173

G

A

intergenic

De novo

-

-

Yuen2017 G

GPR139

1-0677-003

chr16:
20160724-20160724

C

T

intergenic

De novo

-

-

Yuen2017 G

GPR139

2-0132-004

chr16:
20303449-20303449

C

T

intergenic

De novo

-

-

Yuen2017 G

GPR139

5-1012-003

chr16:
20081259-20081259

G

A

intronic

De novo

-

-

Trost2022 G

GPR139

SP0034783

chr16:
20043248-20043248

G

A

exonic

De novo

nonsynonymous SNV

NM_001002911

c.C871T

p.R291W

17.37

Fu2022 E
Trost2022 G
Zhou2022 GE

GPR139

Codina-Sola2015:ASD_16

chr16:
20043242-20043242

G

A

exonic

Paternal

nonsynonymous SNV

NM_001002911

c.C877T

p.R293C

22.3

Codina-Sola2015 E

GPR139

REACH000198

chr16:
20071998-20071998

A

C

intronic

De novo

-

-

Trost2022 G

GPR139

AU3779301

chr16:
20149092-20149092

C

T

intergenic

De novo

-

-

Yuen2017 G

GPR139

SSC04150

chr16:
20043668-20043668

T

C

exonic

De novo

nonsynonymous SNV

NM_001002911

c.A451G

p.S151G

1.631

-

Lim2017 E

GPR139

1-0203-004

chr16:
20192680-20192680

G

A

intergenic

De novo

-

-

Yuen2017 G

GPR139

3-0431-000

chr16:
20311347-20311347

G

A

intergenic

De novo

-

-

Yuen2016 G
Yuen2017 G

GPR139

5-0077-004

chr16:
20079040-20079040

C

T

intronic

De novo

-

-

Trost2022 G
Yuen2017 G

GPR139

AU3984302

chr16:
20089287-20089287

C

A

intergenic

De novo

-

-

Yuen2017 G

GPR139

12325.p1

chr16:
20043668-20043668

T

C

exonic

De novo

nonsynonymous SNV

NM_001002911

c.A451G

p.S151G

1.631

-

Iossifov2014 E
Kosmicki2017 E
Wilfert2021 G
Zhou2022 GE

GPR139

2-0088-003

chr16:
20259512-20259512

G

A

intergenic

De novo

-

-

Yuen2017 G

GPR139

2-1725-003

chr16:
20086109-20086109

A

G

intergenic

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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