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Results for "KDM5B"

Variant Events: 58

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
KDM5B     13664.p1chr1:
202698172-202698172
GAexonicDe novostopgainNM_006618
NM_001314042
c.C4627T
c.C4735T
p.R1543X
p.R1579X
43.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Zhou2022 GE
KDM5B     12418.p1chr1:
202705466-202705466
GAexonicDe novostopgainNM_006618
NM_001314042
c.C3139T
c.C3247T
p.R1047X
p.R1083X
47.0-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Wilfert2021 G
Zhou2022 GE
KDM5B     13631.p1chr1:
202715066-202715066
AGexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.T2243C
c.T2351C
p.L748S
p.L784S
26.2-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
KDM5B     14189.p1chr1:
202746219-202746219
ATexonicDe novononsynonymous SNVNM_001314042
NM_006618
c.T208A
c.T208A
p.W70R
p.W70R
27.1-Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Satterstrom2020 E
Wilfert2021 G
Zhou2022 GE
KDM5B     Al-Mubarak2017:ASD-19chr1:
202715044-202715044
GTexonicUnknownstopgainNM_006618
NM_001314042
c.C2265A
c.C2373A
p.Y755X
p.Y791X
41.03.295E-5Al-Mubarak2017 E
KDM5B     Husson2020:341chr1:
202699143-202699143
GAexonicstopgainNM_006618
NM_001314042
c.C4189T
c.C4297T
p.R1397X
p.R1433X
45.08.587E-6Husson2020 E
KDM5B     5H389chr1:
202719900-202719900
GAexonicDe novostopgainNM_006618
NM_001314042
c.C1708T
c.C1816T
p.R570X
p.R606X
43.08.266E-6Fu2022 E
KDM5B     NDAR_INVDR082LLL_wes1chr1:
202724403-202724403
GGCexonicDe novoframeshift insertionNM_006618
NM_001314042
c.1533dupG
c.1641dupG
p.H512fs
p.H548fs
--DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
KDM5B     200675742_1082034788chr1:
202719900-202719900
GAexonicDe novostopgainNM_006618
NM_001314042
c.C1708T
c.C1816T
p.R570X
p.R606X
43.08.266E-6Fu2022 E
KDM5B     DEASD_0303_001chr1:
202742307-202742307
CGexonicDe novononsynonymous SNVNM_001314042
NM_006618
c.G515C
c.G515C
p.R172T
p.R172T
36.0-DeRubeis2014 E
Fu2022 E
Kosmicki2017 E
Lim2017 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
KDM5B     SSC12704chr1:
202746219-202746219
ATexonicDe novononsynonymous SNVNM_001314042
NM_006618
c.T208A
c.T208A
p.W70R
p.W70R
27.1-Fu2022 E
Trost2022 G
KDM5B     08C74665chr1:
202743854-202743854
GAexonicDe novononsynonymous SNVNM_001314042
NM_006618
c.C292T
c.C292T
p.R98C
p.R98C
22.2-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
KDM5B     12418_p1chr1:
202705466-202705466
GAexonicDe novostopgainNM_006618
NM_001314042
c.C3139T
c.C3247T
p.R1047X
p.R1083X
47.0-Fu2022 E
KDM5B     SP0067907chr1:
202724397-202724397
AGsplicingDe novosplicing15.05-Fu2022 E
Zhou2022 GE
KDM5B     SP0135501chr1:
202724408-202724408
TCexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.A1529G
c.A1637G
p.Y510C
p.Y546C
22.02.478E-5Fu2022 E
Zhou2022 GE
KDM5B     SP0015501chr1:
202722112-202722112
AGexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.T1622C
c.T1730C
p.L541P
p.L577P
28.1-Fu2022 E
Trost2022 G
Zhou2022 GE
KDM5B     SP0076596chr1:
202718208-202718208
ACexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.T1881G
c.T1989G
p.F627L
p.F663L
25.0-Fu2022 E
Trost2022 G
Zhou2022 GE
KDM5B     SP0035464chr1:
202722157-202722157
GAexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.C1577T
c.C1685T
p.A526V
p.A562V
35.0-Fu2022 E
Trost2022 G
Zhou2022 GE
KDM5B     SP0020815chr1:
202700977-202700977
GAexonicDe novostopgainNM_006618
NM_001314042
c.C4000T
c.C4108T
p.R1334X
p.R1370X
47.0-Fu2022 E
Zhou2022 GE
KDM5B     SP0069075chr1:
202699134-202699134
GAexonicDe novostopgainNM_006618
NM_001314042
c.C4198T
c.C4306T
p.R1400X
p.R1436X
45.0-Fu2022 E
Trost2022 G
Zhou2022 GE
KDM5B     SP0067274chr1:
202743854-202743854
GAexonicDe novononsynonymous SNVNM_001314042
NM_006618
c.C292T
c.C292T
p.R98C
p.R98C
22.2-Fu2022 E
Zhou2022 GE
KDM5B     AU2109302chr1:
202718254-202718254
CTexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.G1835A
c.G1943A
p.R612Q
p.R648Q
36.08.351E-6Trost2022 G
Yuen2017 G
Zhou2022 GE
KDM5B     SP0009501chr1:
202718222-202718222
GAexonicDe novostopgainNM_006618
NM_001314042
c.C1867T
c.C1975T
p.R623X
p.R659X
43.0-Fu2022 E
Trost2022 G
Zhou2022 GE
KDM5B     SP0044923chr1:
202701054-202701054
GAexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.C3923T
c.C4031T
p.P1308L
p.P1344L
14.26-Fu2022 E
Trost2022 G
Zhou2022 GE
KDM5B     SP0090223chr1:
202719801-202719801
AGexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.T1807C
c.T1915C
p.C603R
p.C639R
15.84-Fu2022 E
Trost2022 G
Zhou2022 GE
KDM5B     SSC08501chr1:
202715066-202715066
AGexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.T2243C
c.T2351C
p.L748S
p.L784S
26.2-Fu2022 E
Lim2017 E
Trost2022 G
KDM5B     SP0067763chr1:
202742420-202742420
TCintronicDe novo--Fu2022 E
Trost2022 G
Zhou2022 GE
KDM5B     SSC08721chr1:
202698172-202698172
GAexonicDe novostopgainNM_006618
NM_001314042
c.C4627T
c.C4735T
p.R1543X
p.R1579X
43.0-Fu2022 E
Lim2017 E
Trost2022 G
KDM5B     SP0123106chr1:
202709783-202709783
TCintronicDe novo--Fu2022 E
Trost2022 G
KDM5B     A14chr1:
202749435-202749435
CGintronicDe novo--Wu2018 G
KDM5B     200675266@1082034477chr1:
202698146-202698146
GTUTR3De novo-8.24E-6Satterstrom2020 E
Trost2022 G
KDM5B     BRK-78–01chr1:
202746168-202746168
TAexonicDe novononsynonymous SNVNM_001314042
NM_006618
c.A259T
c.A259T
p.I87F
p.I87F
34.0-Abdi2023 G
KDM5B     10C109063chr1:
202727533-202727533
TTGexonicDe novoframeshift insertionNM_006618
NM_001314042
c.1182dupC
c.1290dupC
p.N395fs
p.N431fs
--Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
KDM5B     Wang2023:300chr1:
202702769-202702769
CCGexonicDe novoframeshift insertionNM_006618
NM_001314042
c.3668_3669insC
c.3776_3777insC
p.R1223fs
p.R1259fs
--Wang2023 E
KDM5B     AU2500301chr1:
202743854-202743854
GAexonicnonsynonymous SNVNM_001314042
NM_006618
c.C292T
c.C292T
p.R98C
p.R98C
22.2-Zhou2022 GE
KDM5B     1-1200-003chr1:
202736077-202736077
GAexonicDe novostopgainNM_001314042
NM_006618
c.C688T
c.C688T
p.R230X
p.R230X
40.0-Trost2022 G
Zhou2022 GE
KDM5B     Chen2017:122chr1:
202719900-202719900
GAexonicDe novostopgainNM_006618
NM_001314042
c.C1708T
c.C1816T
p.R570X
p.R606X
43.08.266E-6Chen2017 E
KDM5B     Wang2023:887chr1:
202709802-202709802
CGexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.G3084C
c.G3192C
p.Q1028H
p.Q1064H
31.0-Wang2023 E
KDM5B     AU4056302chr1:
202732312-202732312
ACintronicDe novo--Trost2022 G
Yuen2017 G
KDM5B     SP0059706chr1:
202724408-202724408
TCexonicnonsynonymous SNVNM_006618
NM_001314042
c.A1529G
c.A1637G
p.Y510C
p.Y546C
22.02.478E-5Zhou2022 GE
KDM5B     SP0187102chr1:
202719850-202719850
GTexonicDe novostopgainNM_006618
NM_001314042
c.C1758A
c.C1866A
p.Y586X
p.Y622X
42.0-Trost2022 G
Zhou2022 GE
KDM5B     SP0202241chr1:
202742293-202742293
GAexonicDe novostopgainNM_001314042
NM_006618
c.C529T
c.C529T
p.R177X
p.R177X
40.01.648E-5Trost2022 G
Zhou2022 GE
KDM5B     SP0143992chr1:
202727613-202727613
AGexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.T1103C
c.T1211C
p.F368S
p.F404S
32.0-Trost2022 G
Zhou2022 GE
KDM5B     SP0166561chr1:
202702681-202702681
GAexonicDe novostopgainNM_006618
NM_001314042
c.C3757T
c.C3865T
p.R1253X
p.R1289X
47.0-Trost2022 G
Zhou2022 GE
KDM5B     SP0192518chr1:
202699143-202699143
GAexonicDe novostopgainNM_006618
NM_001314042
c.C4189T
c.C4297T
p.R1397X
p.R1433X
45.08.587E-6Trost2022 G
Zhou2022 GE
KDM5B     SP0149124chr1:
202715082-202715082
GCexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.C2227G
c.C2335G
p.P743A
p.P779A
12.52-Trost2022 G
Zhou2022 GE
KDM5B     SP0046388chr1:
202710745-202710745
CAexonicstopgainNM_006618
NM_001314042
c.G2695T
c.G2803T
p.E899X
p.E935X
45.0-Zhou2022 GE
KDM5B     SP0237342chr1:
202743779-202743781
CATCexonicframeshift deletionNM_001314042
NM_006618
c.365_366del
c.365_366del
p.H122fs
p.H122fs
--Zhou2022 GE
KDM5B     2-1106-004chr1:
202716102-202716102
CTintronicDe novo--Trost2022 G
KDM5B     Mahjani2021:115chr1:
202702911-202702911
AATexonicframeshift insertionNM_006618
NM_001314042
c.3526dupA
c.3634dupA
p.I1176fs
p.I1212fs
--Mahjani2021 E
KDM5B     MT_67.3chr1:
202714968-202714968
AGintronicDe novo--Trost2022 G
KDM5B     SP0001272chr1:
202698891-202698891
CCAexonicDe novostopgainNM_006618
NM_001314042
c.4440dupT
c.4548dupT
p.E1481_D1482delinsX
p.E1517_D1518delinsX
--Feliciano2019 E
Fu2022 E
Trost2022 G
Zhou2022 GE
KDM5B     AGG0052chr1:
202698246-202698246
ACexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.T4553G
c.T4661G
p.V1518G
p.V1554G
19.18-Fu2022 E
Satterstrom2020 E
Trost2022 G
Zhou2022 GE
KDM5B     2-1625-003chr1:
202731958-202731958
TCintronicDe novo--Trost2022 G
KDM5B     2-1364-003 Complex Event; expand row to view variants  De novoframeshift insertionNM_006618
NM_001314042
NM_006618
NM_001314042
c.1182dupC
c.1290dupC
c.1182dupC
c.1290dupC
p.F394fs
p.F430fs
p.N395fs
p.N431fs
--Yuen2017 G
Zhou2022 GE
KDM5B     MSSNG00421-007chr1:
202718107-202718107
TAexonicDe novononsynonymous SNVNM_006618
NM_001314042
c.A1982T
c.A2090T
p.D661V
p.D697V
26.4-Trost2022 G
KDM5B     5-0134-003chr1:
202742470-202742470
TCintronicDe novo--Trost2022 G
KDM5B     3B568chr1:
202736216-202736216
TAintronicDe novo--Satterstrom2020 E
Trost2022 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 notesView
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