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Results for "O’Roak2012a"

Variant Events: 68

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
GRIN2B     11691.p1chr12:
14019043-14019043		TTGexonicDe novoframeshift insertionNM_000834c.99dupCp.S34fs-2.0E-4O’Roak2012a T
SETD2     13783.p1chr3:
47164944-47164944		ATexonicPaternalstopgainNM_014159c.T1182Ap.C394X28.6-O’Roak2012a T
SETD2     12736.p1chr3:
47205396-47205396		GAexonicMaternalstopgainNM_014159c.C19Tp.Q7X26.67.372E-5O’Roak2012a T
TBR1     13796.p1chr2:
162275484-162275484		AACexonicDe novoframeshift insertionNM_006593c.1051_1052insCp.S351fs--O’Roak2012a T
TSPAN17     11494.p1chr5:
176074644-176074644		GTexonicMaternalstopgainNM_001006616
NM_012171
NM_130465		c.G28T
c.G28T
c.G28T		p.E10X
p.E10X
p.E10X		39.02.126E-5O’Roak2012a T
SETD2     12565.p1chr3:
47098932-47098933		ATAexonicDe novoframeshift deletionNM_014159c.6341delAp.N2114fs--O’Roak2012a T
SETBP1     14012.p1chr18:
42643634-42643634		CTexonicMaternalstopgainNM_015559c.C4762Tp.R1588X45.0-O’Roak2012a T
SGSM3     13625.p1chr22:
40802668-40802668		TCsplicingPaternalsplicing15.09-O’Roak2012a T
ADCY5     12688.p1chr3:
123049782-123049782		CTexonicDe novononsynonymous SNVNM_001199642
NM_183357		c.G550A
c.G1600A		p.A184T
p.A534T		37.0-O’Roak2012a T
UBE3C     14096.p1chr7:
156979601-156979601		AAAexonicMaternalframeshift insertionNM_014671c.1217dupAp.N406fs--O’Roak2012a T
ADNP     12707.p1chr20:
49507972-49507972		GGGGexonicMaternalframeshift insertionNM_001282532
NM_181442
NM_015339
NM_001282531		c.3278_3279insCC
c.3278_3279insCC
c.3278_3279insCC
c.3278_3279insCC		p.A1093fs
p.A1093fs
p.A1093fs
p.A1093fs		--O’Roak2012a T
CHD7     13704.p1chr8:
61777890-61777891		CTCexonicMaternalframeshift deletionNM_001316690
NM_017780		c.2246delT
c.8393delT		p.L749fs
p.L2798fs		--O’Roak2012a T
MBD5     11797.p1chr2:
149243521-149243521		TAsplicingMaternalsplicing17.82-O’Roak2012a T
DYRK1A     13552.p1chr21:
38877836-38877837		CCCexonicDe novoframeshift deletionNM_001396
NM_130436
NM_130438
NM_101395		c.1491delC
c.1464delC
c.1491delC
c.1491delC		p.P497fs
p.P488fs
p.P497fs
p.P497fs		--O’Roak2012a T
DYRK1A     12099.p1chr21:
38845116-38845118		CATCexonicDe novoframeshift deletionNM_001396
NM_130436
NM_130438
NM_101395		c.142_143del
c.142_143del
c.142_143del
c.142_143del		p.I48fs
p.I48fs
p.I48fs
p.I48fs		--O’Roak2012a T
SGSM3     12637.p1chr22:
40804702-40804702		GAsplicingPaternalsplicing14.72-O’Roak2012a T
CHD7     14023.p1chr8:
61778440-61778440		TTAexonicPaternalframeshift insertionNM_001316690
NM_017780		c.2796dupA
c.8943dupA		p.L932fs
p.L2981fs		--O’Roak2012a T
ADCY5     12652.p1chr3:
123166430-123166431		CTCexonicPaternalframeshift deletionNM_183357c.962delAp.Q321fs--O’Roak2012a T
ZNF420     14557.p1chr19:
37619946-37619946		CTexonicPaternalstopgainNM_144689c.C2053Tp.Q685X14.94-O’Roak2012a T
FOXP2     14595.p1chr7:
114269649-114269649		TTTexonicPaternalframeshift insertionNM_148900c.399dupTp.D133fs--O’Roak2012a T
ADNP     13545.p1chr20:
49509094-49509094		GGTexonicDe novostopgainNM_001282532
NM_181442
NM_015339
NM_001282531		c.2156dupA
c.2156dupA
c.2156dupA
c.2156dupA		p.Y719_E720delinsX
p.Y719_E720delinsX
p.Y719_E720delinsX
p.Y719_E720delinsX		--O’Roak2012a T
SGSM3     11523.p1chr22:
40802589-40802589		CTexonicDe novononsynonymous SNVNM_001301849
NM_015705		c.C919T
c.C1108T		p.R307C
p.R370C		23.63.508E-5O’Roak2012a T
SGSM3     12791.p1chr22:
40804965-40804965		AGexonicDe novononsynonymous SNVNM_001301849
NM_015705		c.A1664G
c.A1931G		p.D555G
p.D644G		16.34-O’Roak2012a T
CHD8     12752.p1chr14:
21861376-21861378		ACTAexonicDe novoframeshift deletionNM_001170629
NM_020920		c.6355_6356del
c.5518_5519del		p.S2119fs
p.S1840fs		--O’Roak2012a T
ADCY5     11653.p1chr3:
123046605-123046605		GAexonicDe novononsynonymous SNVNM_001199642
NM_183357		c.C757T
c.C1807T		p.R253C
p.R603C		23.21.661E-5O’Roak2012a T
CHD8     14406.p1chr14:
21854022-21854025		GGGTGexonicDe novononframeshift deletionNM_001170629
NM_020920		c.7493_7495del
c.6656_6658del		p.2498_2499del
p.2219_2220del		--O’Roak2012a T
NTNG1     12532.p1chr1:
107691283-107691283		AGexonicDe novononsynonymous SNVNM_001113226
NM_001113228
NM_001312688
NM_014917		c.A68G
c.A68G
c.A68G
c.A68G		p.Y23C
p.Y23C
p.Y23C
p.Y23C		19.13-O’Roak2012a T
CHD8     14233.p1chr14:
21859175-21859175		AATexonicDe novoframeshift insertionNM_001170629
NM_020920		c.7112dupA
c.6275dupA		p.N2371fs
p.N2092fs		--O’Roak2012a T
NTNG1     11660.p1chr1:
107867061-107867061		CTexonicDe novononsynonymous SNVNM_001113226
NM_001113228
NM_001312688
NM_014917		c.C404T
c.C404T
c.C404T
c.C404T		p.T135I
p.T135I
p.T135I
p.T135I		22.4-O’Roak2012a T
CHD8     12991.p1chr14:
21861643-21861647		TCTTCTexonicDe novoframeshift deletionNM_001170629
NM_020920		c.6307_6310del
c.5470_5473del		p.E2103fs
p.E1824fs		--O’Roak2012a T
LAMC3     11666.p1chr9:
133914290-133914290		AGexonicDe novononsynonymous SNVNM_006059c.A1016Gp.D339G19.64-O’Roak2012a T
SBF1     13793.p1chr22:
50899030-50899030		TCexonicDe novononsynonymous SNVNM_002972c.A3079Gp.T1027A1.494-O’Roak2012a T
CHD8     14016.p1chr14:
21870169-21870169		GAexonicDe novostopgainNM_001170629
NM_020920		c.C4009T
c.C3172T		p.R1337X
p.R1058X		36.0-O’Roak2012a T
LAMC3     11704.p1chr9:
133952690-133952690		AGexonicDe novononsynonymous SNVNM_006059c.A3746Gp.Y1249C10.13-O’Roak2012a T
SBF1     12930.p1chr22:
50901032-50901032		GAexonicDe novononsynonymous SNVNM_002972c.C2083Tp.R695W21.03.76E-5O’Roak2012a T
CHD8     13844.p1chr14:
21871178-21871178		GAexonicDe novostopgainNM_001170629
NM_020920		c.C3712T
c.C2875T		p.Q1238X
p.Q959X		35.0-O’Roak2012a T
CHD8     11654.p1chr14:
21871373-21871373		TCsplicingDe novosplicing19.43-O’Roak2012a T
ARID1B     14393.p1chr6:
157510807-157510807		CCCexonicDe novoframeshift insertionNM_017519
NM_020732		c.3543dupC
c.3582dupC		p.T1181fs
p.T1194fs		--O’Roak2012a T
TBR1     13814.p1chr2:
162273603-162273603		AGexonicDe novononsynonymous SNVNM_006593c.A682Gp.K228E16.8-O’Roak2012a T
UBE3C     12851.p1chr7:
157049644-157049644		TGexonicDe novononsynonymous SNVNM_014671c.T2987Gp.F996C17.4-O’Roak2012a T
TBL1XR1     14612.p1chr3:
176752047-176752048		TATexonicDe novoframeshift deletionNM_024665c.1188delTp.T396fs--O’Roak2012a T
TBL1XR1     12335.p1chr3:
176765107-176765107		AGexonicDe novononsynonymous SNVNM_024665c.T845Cp.L282P21.9-O’Roak2012a T
SCN1A     12340.p1chr2:
166848006-166848006		TCexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.A5779G
c.A5695G
c.A5746G
c.A5779G		p.R1927G
p.R1899G
p.R1916G
p.R1927G		14.33-O’Roak2012a T
SCN1A     12499.p1chr2:
166848071-166848071		GAexonicDe novononsynonymous SNVNM_001165963
NM_001165964
NM_006920
NM_001202435		c.C5714T
c.C5630T
c.C5681T
c.C5714T		p.P1905L
p.P1877L
p.P1894L
p.P1905L		19.66-O’Roak2012a T
CTNNB1     12211.p1chr3:
41275346-41275346		GAexonicDe novostopgainNM_001098209
NM_001098210
NM_001904		c.G1512A
c.G1512A
c.G1512A		p.W504X
p.W504X
p.W504X		42.0-O’Roak2012a T
DYRK1A     13890.p1chr21:
38865466-38865466		GAsplicingDe novosplicing28.2-O’Roak2012a T
CTNNB1     12703.p1chr3:
41275757-41275757		CTexonicDe novononsynonymous SNVNM_001098209
NM_001098210
NM_001904		c.C1652T
c.C1652T
c.C1652T		p.T551M
p.T551M
p.T551M		15.0-O’Roak2012a T
UBE3C     11006.p1chr7:
157041114-157041114		CTexonicDe novononsynonymous SNVNM_014671c.C2534Tp.S845F21.28.237E-6O’Roak2012a T
ARID1B     13447.p1chr6:
157527664-157527668		CTGTTCexonicDe novoframeshift deletionNM_017519
NM_020732		c.5351_5354del
c.5390_5393del		p.L1784fs
p.L1797fs		--O’Roak2012a T
SETD2     14569.p1chr3:
47166005-47166005		TAexonicDe novononsynonymous SNVNM_014159c.A121Tp.I41F11.88-O’Roak2012a T
CHD8     12714.p1chr14:
21899618-21899618		GTexonicDe novostopgainNM_001170629c.C185Ap.S62X23.0-O’Roak2012a T
CHD8     13986.p1chr14:
21878133-21878133		GGTexonicDe novostopgainNM_001170629
NM_020920		c.2240dupA
c.1403dupA		p.Y747_L748delinsX
p.Y468_L469delinsX		--O’Roak2012a T
PTEN     14611.p1chr10:
89692920-89692920		TTAexonicDe novoframeshift insertionNM_000314
NM_001304717		c.405dupA
c.924dupA		p.I135fs
p.I308fs		--O’Roak2012a T
PTEN     12517.p1chr10:
89717615-89717615		CTexonicMaternalstopgainNM_000314
NM_001304718
NM_001304717		c.C640T
c.C49T
c.C1159T		p.Q214X
p.Q17X
p.Q387X		49.0-O’Roak2012a T
AP3B2     11255.p1chr15:
83357565-83357567		CATCexonicMaternalframeshift deletionNM_001278512
NM_004644		c.281_282del
c.281_282del		p.Y94fs
p.Y94fs		--O’Roak2012a T
LAMC3     14316.p1chr9:
133911720-133911720		GCsplicingPaternalsplicing18.271.743E-5O’Roak2012a T
PTEN     14433.p1chr10:
89692908-89692908		CTexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.C392T
c.C911T		p.T131I
p.T304I		27.8-O’Roak2012a T
PTEN     11390.p1chr10:
89711882-89711882		CAexonicDe novononsynonymous SNVNM_000314
NM_001304717		c.C500A
c.C1019A		p.T167N
p.T340N		28.6-O’Roak2012a T
CNOT4     12389.p1chr7:
135095264-135095264		CTsplicingPaternalsplicing16.711.662E-5O’Roak2012a T
SBF1     13811.p1chr22:
50904837-50904837		GAexonicMaternalstopgainNM_002972c.C730Tp.Q244X36.0-O’Roak2012a T
LAMC3     14144.p1chr9:
133942353-133942354		GCGexonicMaternalframeshift deletionNM_006059c.2355delCp.R785fs--O’Roak2012a T
TBR1     11480.p1chr2:
162273325-162273326		CCCexonicDe novoframeshift deletionNM_006593c.405delCp.P135fs--O’Roak2012a T
GRIN2B     12681.p1chr12:
13722953-13722953		TCsplicingDe novosplicing17.06-O’Roak2012a T
LAMC3     11298.p1chr9:
133954629-133954629		CTexonicMaternalstopgainNM_006059c.C3871Tp.R1291X43.03.379E-5O’Roak2012a T
ADNP     12130.p1chr20:
49510027-49510029		CTTCexonicDe novoframeshift deletionNM_001282532
NM_181442
NM_015339
NM_001282531		c.1222_1223del
c.1222_1223del
c.1222_1223del
c.1222_1223del		p.K408fs
p.K408fs
p.K408fs
p.K408fs		--O’Roak2012a T
GRIN2B     12547.p1chr12:
13764762-13764762		CTexonicDe novostopgainNM_000834c.G1677Ap.W559X41.0-O’Roak2012a T
GRIN2B     13932.p1chr12:
13768560-13768560		CTexonicDe novononsynonymous SNVNM_000834c.G1367Ap.C456Y27.6-O’Roak2012a T
LAMC3     14404.p1chr9:
133932503-133932503		TAexonicMaternalstopgainNM_006059c.T2127Ap.C709X40.08.282E-6O’Roak2012a T
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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