Visualization of regulatory element with DNMs in transcripts



Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.

Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000367843 [[167905898, 167906246], [167921037, 167921099], [167935866, 167935959], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [167992225, 167992285], [168007608, 168007726], [168012262, 168012378], [168013822, 168013909], [168014137, 168014465], [168032858, 168032997], [168034827, 168034984], [168035614, 168035703], [168037595, 168037701], [168044608, 168045081]] [[167906149, 167906246], [167921037, 167921099], [167935866, 167935959], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [167992225, 167992285], [168007608, 168007726], [168012262, 168012378], [168013822, 168013909], [168014137, 168014465], [168032858, 168032997], [168034827, 168034984], [168035614, 168035703], [168037595, 168037701], [168044608, 168044673]]
ENST00000432587 [[167905936, 167906246], [167921037, 167921099], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [167985018, 167985189], [167992225, 167992285], [168007608, 168007726], [168012262, 168012378], [168013822, 168013909], [168014137, 168014465], [168020129, 168020171], [168032858, 168032997], [168034827, 168034984], [168035614, 168035703], [168037595, 168037701], [168044608, 168044869]] [[167906149, 167906246], [167921037, 167921099], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [167985018, 167985189], [167992225, 167992285], [168007608, 168007726], [168012262, 168012378], [168013822, 168013909], [168014137, 168014465], [168020129, 168020171], [168032858, 168032997], [168034827, 168034984], [168035614, 168035703], [168037595, 168037701], [168044608, 168044673]]
ENST00000312263 [[167905945, 167906246], [167921037, 167921099], [167935866, 167935959], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [168007608, 168007726], [168012262, 168012378], [168013822, 168013909], [168014137, 168014465], [168032858, 168032997], [168034827, 168034984], [168035614, 168035703], [168037595, 168037701], [168044608, 168045072]] [[167906149, 167906246], [167921037, 167921099], [167935866, 167935959], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [168007608, 168007726], [168012262, 168012378], [168013822, 168013909], [168014137, 168014465], [168032858, 168032997], [168034827, 168034984], [168035614, 168035703], [168037595, 168037701], [168044608, 168044673]]
ENST00000367840 [[167906055, 167906246], [167921037, 167921099], [167935866, 167935959], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [167985018, 167985189], [167992225, 167992285], [168007608, 168007726], [168012262, 168012378], [168013822, 168013909], [168014137, 168014465], [168020129, 168020171], [168032858, 168032997], [168034827, 168034984], [168035614, 168035703], [168037595, 168037701], [168044608, 168045072]] [[167906149, 167906246], [167921037, 167921099], [167935866, 167935959], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [167985018, 167985189], [167992225, 167992285], [168007608, 168007726], [168012262, 168012378], [168013822, 168013909], [168014137, 168014465], [168020129, 168020171], [168032858, 168032997], [168034827, 168034984], [168035614, 168035703], [168037595, 168037701], [168044608, 168044673]]
ENST00000489398 [[168011967, 168012378], [168013822, 168013909], [168014137, 168014465], [168032858, 168032997], [168034827, 168034984], [168035620, 168035703], [168037595, 168037701], [168044608, 168045024]] None
ENST00000450548 [[167905020, 167905350], [167921037, 167921099], [167935866, 167935959], [167944067, 167944253], [167956732, 167956785]] None
ENST00000470919 [[167905511, 167905747], [167921037, 167921099], [167935866, 167935959], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577]] None
ENST00000470721 [[167905910, 167906246], [167921037, 167921099], [167935866, 167935959], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [167988782, 167988905], [167992225, 167993288]] [[167906149, 167906246], [167921037, 167921099], [167935866, 167935959], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [167988782, 167988823]]
ENST00000455334 [[167906390, 167906490], [167921037, 167921099], [167935866, 167935959], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962568]] None
ENST00000491067 [[167937727, 167937771], [167938441, 167938497], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577]] None
ENST00000460432 [[167985124, 167985189], [167988782, 167989199]] None
ENST00000478668 [[168014318, 168014465], [168032858, 168033205]] None
NM_001198957 [[167905796, 167906246], [167921037, 167921099], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [167985018, 167985189], [167992225, 167992285], [168007608, 168007726], [168012262, 168012378], [168013822, 168013909], [168014137, 168014465], [168020129, 168020171], [168032858, 168032997], [168034827, 168034984], [168035614, 168035703], [168037595, 168037701], [168044608, 168045081]] [[167906149, 167906246], [167921037, 167921099], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [167985018, 167985189], [167992225, 167992285], [168007608, 168007726], [168012262, 168012378], [168013822, 168013909], [168014137, 168014465], [168020129, 168020171], [168032858, 168032997], [168034827, 168034984], [168035614, 168035703], [168037595, 168037701], [168044608, 168044673]]
NM_001017977 [[167905796, 167906246], [167921037, 167921099], [167935866, 167935959], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [168007608, 168007726], [168012262, 168012378], [168013822, 168013909], [168014137, 168014465], [168032858, 168032997], [168034827, 168034984], [168035614, 168035703], [168037595, 168037701], [168044608, 168045081]] [[167906149, 167906246], [167921037, 167921099], [167935866, 167935959], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [168007608, 168007726], [168012262, 168012378], [168013822, 168013909], [168014137, 168014465], [168032858, 168032997], [168034827, 168034984], [168035614, 168035703], [168037595, 168037701], [168044608, 168044673]]
NM_018442 [[167905796, 167906246], [167921037, 167921099], [167935866, 167935959], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [167992225, 167992285], [168007608, 168007726], [168012262, 168012378], [168013822, 168013909], [168014137, 168014465], [168032858, 168032997], [168034827, 168034984], [168035614, 168035703], [168037595, 168037701], [168044608, 168045081]] [[167906149, 167906246], [167921037, 167921099], [167935866, 167935959], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [167992225, 167992285], [168007608, 168007726], [168012262, 168012378], [168013822, 168013909], [168014137, 168014465], [168032858, 168032997], [168034827, 168034984], [168035614, 168035703], [168037595, 168037701], [168044608, 168044673]]
NM_001198956 [[167905796, 167906246], [167921037, 167921099], [167935866, 167935959], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [167985018, 167985189], [167992225, 167992285], [168007608, 168007726], [168012262, 168012378], [168013822, 168013909], [168014137, 168014465], [168020129, 168020171], [168032858, 168032997], [168034827, 168034984], [168035614, 168035703], [168037595, 168037701], [168044608, 168045081]] [[167906149, 167906246], [167921037, 167921099], [167935866, 167935959], [167944067, 167944253], [167956732, 167956846], [167960441, 167960577], [167962463, 167962678], [167971719, 167971813], [167973107, 167973227], [167973770, 167974031], [167985018, 167985189], [167992225, 167992285], [168007608, 168007726], [168012262, 168012378], [168013822, 168013909], [168014137, 168014465], [168020129, 168020171], [168032858, 168032997], [168034827, 168034984], [168035614, 168035703], [168037595, 168037701], [168044608, 168044673]]
Promoter
Chrom Start End Description
chr1 167905894 167905954 CAGE_peak_1_at_DCAF6_5end
chr1 167906109 167906124 CAGE_peak_2_at_DCAF6_5end
chr1 167937674 167937679 CAGE_peak_18_at_DCAF6_5end
chr1 167937682 167937693 CAGE_peak_14_at_DCAF6_5end
chr1 167937702 167937716 CAGE_peak_8_at_DCAF6_5end
chr1 167937725 167937730 CAGE_peak_17_at_DCAF6_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I167924 167924236 167925229 0.72 [{'connected_gene': 'DCAF6', 'score': 8.03}, {'connected_gene': 'ADCY10', 'score': 0.44}, {'connected_gene': 'MPC2', 'score': 0.39}]
chr1 GH01I167904 167904223 167905665 1.46 [{'connected_gene': 'ADCY10', 'score': 550.39}, {'connected_gene': 'MPC2', 'score': 20.23}, {'connected_gene': 'DCAF6', 'score': 11.25}, {'connected_gene': 'ENSG00000232194', 'score': 11.04}, {'connected_gene': 'ENSG00000250762', 'score': 11.04}, {'connected_gene': 'GC01P167854', 'score': 0.23}]
chr1 GH01I167923 167922183 167922332 0.69 [{'connected_gene': 'ADCY10', 'score': 0.44}, {'connected_gene': 'MPC2', 'score': 0.39}, {'connected_gene': 'DCAF6', 'score': 0.39}]
chr1 GH01I167915 167915530 167918258 1.05 [{'connected_gene': 'ADCY10', 'score': 550.77}, {'connected_gene': 'MPC2', 'score': 9.93}, {'connected_gene': 'DCAF6', 'score': 0.37}]
chr1 GH01I167922 167922565 167923684 1.02 [{'connected_gene': 'ADCY10', 'score': 0.44}, {'connected_gene': 'MPC2', 'score': 0.39}, {'connected_gene': 'DCAF6', 'score': 0.39}]
chr1 GH01I167946 167946828 167947844 0.49 [{'connected_gene': 'ADCY10', 'score': 11.5}, {'connected_gene': 'MPC2', 'score': 8.47}, {'connected_gene': 'DCAF6', 'score': 0.39}, {'connected_gene': 'GC01P167995', 'score': 0.25}]
chr1 GH01I167985 167985002 167985169 1.09 [{'connected_gene': 'POU2F1', 'score': 81.09}, {'connected_gene': 'MPZL1', 'score': 24.71}, {'connected_gene': 'ENSG00000272205', 'score': 10.9}, {'connected_gene': 'ADCY10', 'score': 10.47}, {'connected_gene': 'MPC2', 'score': 8.06}, {'connected_gene': 'RCSD1', 'score': 1.28}, {'connected_gene': 'GC01P167995', 'score': 0.39}, {'connected_gene': 'DCAF6', 'score': 0.25}]
chr1 GH01I168628 168628278 168630050 0.8 [{'connected_gene': 'ATP1B1', 'score': 9.51}, {'connected_gene': 'LOC101928596', 'score': 9.51}, {'connected_gene': 'DCAF6', 'score': 4.42}, {'connected_gene': 'LOC105371604', 'score': 0.28}, {'connected_gene': 'RPL7AP21', 'score': 0.25}]
chr1 GH01I168621 168621007 168624359 1.29 [{'connected_gene': 'ATP1B1', 'score': 9.23}, {'connected_gene': 'LOC101928596', 'score': 9.23}, {'connected_gene': 'DCAF6', 'score': 5.21}, {'connected_gene': 'RPL7AP21', 'score': 0.26}, {'connected_gene': 'LOC105371604', 'score': 0.26}]
chr1 GH01I167933 167933667 167939419 2.34 [{'connected_gene': 'MPC2', 'score': 559.97}, {'connected_gene': 'DCAF6', 'score': 550.77}, {'connected_gene': 'MPZL1', 'score': 41.99}, {'connected_gene': 'POU2F1', 'score': 10.98}, {'connected_gene': 'DPT', 'score': 10.11}]
chr1 GH01I167911 167911401 167911600 0.2 [{'connected_gene': 'MPC2', 'score': 19.18}, {'connected_gene': 'DCAF6', 'score': 11.26}, {'connected_gene': 'ADCY10', 'score': 0.77}, {'connected_gene': 'GC01P167854', 'score': 0.22}]
chr1 GH01I167925 167925746 167930934 1.42 [{'connected_gene': 'MPC2', 'score': 9.68}, {'connected_gene': 'DCAF6', 'score': 0.44}, {'connected_gene': 'ADCY10', 'score': 0.39}]
chr1 GH01I167912 167912323 167912472 0.46 [{'connected_gene': 'MPC2', 'score': 11.26}, {'connected_gene': 'DCAF6', 'score': 11.26}, {'connected_gene': 'ADCY10', 'score': 0.77}, {'connected_gene': 'GC01P167854', 'score': 0.22}]
chr1 GH01I168612 168612611 168615212 1.01 [{'connected_gene': 'LOC101928596', 'score': 10.34}, {'connected_gene': 'ATP1B1', 'score': 10.34}, {'connected_gene': 'DCAF6', 'score': 5.23}, {'connected_gene': 'RPL7AP21', 'score': 0.29}, {'connected_gene': 'LOC105371604', 'score': 0.23}]
chr1 GH01I168056 168056201 168056601 0.5 [{'connected_gene': 'GCSHP5', 'score': 550.77}, {'connected_gene': 'MPC2', 'score': 5.55}, {'connected_gene': 'MIR1255B2', 'score': 0.22}, {'connected_gene': 'DCAF6', 'score': 0.13}]