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Results for "EPHB1"

Variant Events: 95

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
EPHB1     1-0597-003chr3:
135473464-135473464
GAintergenicDe novo--Yuen2017 G
EPHB1     SSC05396chr3:
134968233-134968233
GAexonicDe novononsynonymous SNVNM_004441c.G2746Ap.V916M32.02.49E-5Fu2022 E
Lim2017 E
Trost2022 G
EPHB1     1-0627-007chr3:
135205276-135205276
ATintergenicDe novo--Yuen2017 G
EPHB1     2-0022-003chr3:
135012495-135012495
GCintergenicDe novo--Yuen2017 G
EPHB1     AU047704chr3:
134814608-134814608
CGintronicDe novo--Trost2022 G
Yuen2017 G
EPHB1     13918.p1chr3:
134825572-134825573
GTGintronicDe novo--Wilfert2021 G
EPHB1     2-1437-003chr3:
135623387-135623389
CAGCintergenicDe novo--Yuen2017 G
EPHB1     5-0014-003chr3:
134556177-134556177
AGintronicDe novo--Trost2022 G
Yuen2017 G
EPHB1     AU1668302chr3:
135415713-135415713
CAintergenicDe novo--Yuen2017 G
EPHB1     TRE_2562chr3:
134696834-134696834
AGintronicDe novo--Fu2022 E
EPHB1     13748_p1chr3:
134959990-134959990
GAexonicDe novononsynonymous SNVNM_004441c.G2347Ap.G783R24.6-Fu2022 E
EPHB1     5-0147-003chr3:
135008082-135008082
TGintergenicDe novo--Yuen2017 G
EPHB1     DEASD_0060_001chr3:
134968172-134968172
CTintronicDe novo--Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
EPHB1     AU051503chr3:
134872034-134872034
CTintronicDe novo--Trost2022 G
Yuen2017 G
EPHB1     AU3610302chr3:
135313821-135313847
CAAAAACAAAAAAAAAAACAAAAAAAACAAAAAintergenicDe novo--Yuen2017 G
EPHB1     13748.p1chr3:
134959990-134959990
GAexonicDe novononsynonymous SNVNM_004441c.G2347Ap.G783R24.6-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Wilfert2021 G
Zhou2022 GE
EPHB1     MSSNG00169-003chr3:
134523424-134523424
CTintronicDe novo--Trost2022 G
EPHB1     12673.p1chr3:
134968233-134968233
GAexonicDe novononsynonymous SNVNM_004441c.G2746Ap.V916M32.02.49E-5Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE
EPHB1     3-0176-000chr3:
134541425-134541425
GCintronicDe novo--Trost2022 G
EPHB1     1-0112-004chr3:
135029348-135029348
AGintergenicDe novo--Yuen2017 G
EPHB1     2-1089-003chr3:
135328708-135328708
CTintergenicDe novo--Yuen2017 G
EPHB1     7-0368-003chr3:
134514387-134514387
CTUTR5De novo--Trost2022 G
EPHB1     1-0381-003chr3:
134936318-134936336
GGAGAGAGAGAGAGAGAGAGGAGAGAGAGAGAGAGAintronicDe novo--Yuen2017 G
EPHB1     3-0650-000chr3:
134631065-134631065
GAintronicDe novo--Trost2022 G
EPHB1     MSSNG00336-004chr3:
134667573-134667573
GAintronicDe novo--Trost2022 G
EPHB1     AU2320301chr3:
134581404-134581404
ATintronicDe novo--Trost2022 G
EPHB1     1-0952-003chr3:
134615528-134615528
CTintronicDe novo--Trost2022 G
EPHB1     3-0621-000Achr3:
134558158-134558158
TGintronicDe novo--Trost2022 G
EPHB1     4-0062-003chr3:
134560335-134560338
GAGGAGGCintronicDe novo--Trost2022 G
EPHB1     3-0621-000Achr3:
134541534-134541534
CGintronicDe novo--Trost2022 G
EPHB1     2-1131-003chr3:
134656434-134656434
CTintronicDe novo--Trost2022 G
Yuen2016 G
Yuen2017 G
EPHB1     MSSNG00084-003chr3:
134548116-134548116
GAintronicDe novo--Trost2022 G
EPHB1     1-0661-003chr3:
134789594-134789594
GAintronicDe novo--Trost2022 G
EPHB1     2-1644-004chr3:
135339171-135339171
TCintergenicDe novo--Yuen2017 G
EPHB1     AU2089301chr3:
135671404-135671404
GTintergenicDe novo--Yuen2017 G
EPHB1     REACH000446chr3:
134801733-134801733
CTintronicDe novo--Trost2022 G
EPHB1     3-0774-000Achr3:
134756876-134756876
CTintronicDe novo--Trost2022 G
EPHB1     MSSNG00255-003chr3:
134768494-134768494
CAintronicDe novo--Trost2022 G
EPHB1     2-0145-003chr3:
135515608-135515608
GAintergenicDe novo--Yuen2017 G
EPHB1     1-0903-003chr3:
134728679-134728679
GAintronicDe novo--Trost2022 G
EPHB1     REACH000078chr3:
134752917-134752917
GAintronicDe novo--Trost2022 G
EPHB1     4-0014-003chr3:
134703511-134703511
GAintronicDe novo--Trost2022 G
EPHB1     7-0497-003chr3:
134724521-134724521
CTintronicDe novo--Trost2022 G
EPHB1     1-1010-003chr3:
134871853-134871853
ACintronicDe novo--Trost2022 G
EPHB1     AU4284301chr3:
135478509-135478509
CTintergenicDe novo--Yuen2017 G
EPHB1     1-0681-003chr3:
134881342-134881342
TGintronicDe novo--Trost2022 G
EPHB1     14642.p1chr3:
135337226-135337226
CAintergenicDe novo--Turner2016 G
EPHB1     AU3807302chr3:
134806582-134806582
GAintronicDe novo--Trost2022 G
Yuen2017 G
EPHB1     MSSNG00109-004chr3:
134844254-134844254
CTintronicDe novo--Trost2022 G
EPHB1     11456.p1chr3:
135630269-135630269
AGintergenicDe novo--Turner2016 G
EPHB1     7-0266-003chr3:
134857549-134857549
GAintronicDe novo--Trost2022 G
EPHB1     2-0109-003chr3:
135532710-135532710
CTintergenicDe novo--Yuen2017 G
EPHB1     MSSNG00377-003chr3:
134820176-134820176
CAintronicDe novo--Trost2022 G
EPHB1     A9chr3:
134758996-134758996
CGintronicDe novo--Wu2018 G
EPHB1     3-0346-000chr3:
134822599-134822599
CTintronicDe novo--Trost2022 G
EPHB1     3-0788-000chr3:
134811903-134811903
CTintronicDe novo--Trost2022 G
EPHB1     MSSNG00099-003chr3:
134816199-134816199
CTintronicDe novo--Trost2022 G
EPHB1     AU024004chr3:
135142104-135142104
GCintergenicDe novo--Yuen2017 G
EPHB1     5-1003-003chr3:
134930214-134930215
TTAAintronicDe novo--Trost2022 G
EPHB1     2-1068-003chr3:
134930570-134930570
CTintronicDe novo--Trost2022 G
EPHB1     MSSNG00073-003chr3:
134902608-134902608
AGintronicDe novo--Trost2022 G
EPHB1     MT_38.3chr3:
134902875-134902875
TCintronicDe novo--Trost2022 G
EPHB1     2-1692-003chr3:
134889481-134889481
AGintronicDe novo--Trost2022 G
EPHB1     MSSNG00406-003chr3:
134890012-134890012
GAintronicDe novo--Trost2022 G
EPHB1     1-0259-005chr3:
134687725-134687726
TATintronicDe novo--Trost2022 G
Yuen2017 G
EPHB1     AU050910chr3:
134965755-134965755
TGintronicDe novo--Trost2022 G
Yuen2017 G
EPHB1     AU4060306chr3:
134677848-134677848
CGintronicDe novo--Trost2022 G
Yuen2017 G
EPHB1     MSSNG00252-003chr3:
134885754-134885754
GAintronicDe novo-8.309E-6Trost2022 G
EPHB1     3-0541-000Achr3:
134888439-134888439
GAintronicDe novo--Trost2022 G
EPHB1     2-0318-003chr3:
135638868-135638868
AGintergenicDe novo--Yuen2017 G
EPHB1     2-1442-003chr3:
135545969-135545969
ACintergenicDe novo--Yuen2017 G
EPHB1     7-0130-003chr3:
135425572-135425572
CTintergenicDe novo--Yuen2017 G
EPHB1     SJD_8.3chr3:
134937382-134937382
CAintronicDe novo--Trost2022 G
EPHB1     4-0049-003chr3:
134938756-134938767
GCAGAATTCCCTGintronicDe novo--Trost2022 G
EPHB1     1-0246-005chr3:
135206147-135206147
TGintergenicDe novo--Yuen2017 G
EPHB1     AU3888302chr3:
135037131-135037131
ACintergenicDe novo--Yuen2017 G
EPHB1     AU3725302chr3:
135221758-135221758
TCintergenicDe novo--Yuen2017 G
EPHB1     2-0214-003chr3:
135551799-135551799
CTintergenicDe novo--Yuen2017 G
EPHB1     1-1004-003chr3:
135584747-135584747
ATintergenicDe novo--Yuen2017 G
EPHB1     2-1373-003chr3:
135519758-135519758
TCintergenicDe novo--Yuen2016 G
Yuen2017 G
EPHB1     1701001chr3:
134885799-134885801
CAACexonicDe novoframeshift deletionNM_004441c.1711_1712delp.K571fs--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
EPHB1     7-0024-005chr3:
135300360-135300360
TGintergenicDe novo--Yuen2017 G
EPHB1     2-0272-003chr3:
134535242-134535242
TCintronicDe novo--Trost2022 G
Yuen2017 G
EPHB1     1-0629-003chr3:
135059074-135059074
AGintergenicDe novo--Yuen2017 G
EPHB1     SP0070692chr3:
134670242-134670242
CAexonicDe novononsynonymous SNVNM_004441c.C153Ap.N51K12.891.0E-4Fu2022 E
Trost2022 G
Zhou2022 GE
EPHB1     SP0089699chr3:
134851754-134851754
CTexonicDe novononsynonymous SNVNM_004441c.C1160Tp.T387M19.481.66E-5Fu2022 E
Trost2022 G
Zhou2022 GE
EPHB1     SP0032477chr3:
134967153-134967153
TCintronicDe novo--Fu2022 E
Trost2022 G
Zhou2022 GE
EPHB1     AU054103chr3:
135563385-135563385
ATintergenicDe novo--Yuen2017 G
EPHB1     1-0153-004chr3:
135353992-135353992
CTintergenicDe novo--Yuen2017 G
EPHB1     1-0965-003chr3:
135487549-135487549
TCintergenicDe novo--Yuen2017 G
EPHB1     2-0319-003chr3:
134689343-134689343
TCintronicDe novo--Yuen2017 G
EPHB1     2-1105-003chr3:
134923206-134923206
TAintronicDe novo--Yuen2016 G
Yuen2017 G
EPHB1     AU050403chr3:
134700256-134700256
CTintronicDe novo--Trost2022 G
Yuen2017 G
EPHB1     7-0183-003chr3:
135663378-135663378
CTintergenicDe novo--Yuen2017 G
EPHB1     2-0238-003chr3:
134710223-134710223
GTintronicDe novo--Trost2022 G
Yuen2017 G
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
Curation notesView
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