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
ENST00000527125 [[123499894, 123500158], [123504828, 123504914], [123508893, 123511832]] None
ENST00000392770 [[123499896, 123504484], [123504828, 123504914], [123508893, 123509032], [123513153, 123513379], [123516294, 123516458], [123524454, 123525312]] [[123504850, 123504914], [123508893, 123509032], [123513153, 123513379], [123516294, 123516458], [123524454, 123524509]]
ENST00000299333 [[123499896, 123504484], [123504828, 123504914], [123508893, 123509032], [123513153, 123513379], [123516294, 123516458], [123524454, 123524534], [123524933, 123525315]] [[123504850, 123504914], [123508893, 123509032], [123513153, 123513379], [123516294, 123516458], [123524454, 123524509]]
ENST00000530277 [[123501921, 123504914], [123508893, 123509032], [123513153, 123513379], [123516294, 123516458], [123524454, 123524534], [123524933, 123525315]] [[123504850, 123504914], [123508893, 123509032], [123513153, 123513379], [123516294, 123516458], [123524454, 123524509]]
ENST00000527836 [[123513174, 123513379], [123516294, 123516458], [123524454, 123524534], [123525597, 123525714]] [[123513174, 123513379], [123516294, 123516458], [123524454, 123524509]]
ENST00000528267 [[123513317, 123513379], [123516294, 123516458], [123524454, 123524534], [123525815, 123525952]] [[123513317, 123513379], [123516294, 123516458], [123524454, 123524509]]
NM_018400 [[123499894, 123504484], [123504828, 123504914], [123508893, 123509032], [123513153, 123513379], [123516294, 123516458], [123524454, 123525315]] [[123504850, 123504914], [123508893, 123509032], [123513153, 123513379], [123516294, 123516458], [123524454, 123524509]]
NM_001040151 [[123499894, 123504484], [123504828, 123504914], [123508893, 123509032], [123513153, 123513379], [123516294, 123516458], [123524454, 123524534], [123524933, 123525315]] [[123504850, 123504914], [123508893, 123509032], [123513153, 123513379], [123516294, 123516458], [123524454, 123524509]]
Promoter
Chrom Start End Description
chr11 123501618 123501636 CAGE_peak_11_at_SCN3B_5end
chr11 123501964 123501974 CAGE_peak_24_at_SCN3B_5end
chr11 123502025 123502039 CAGE_peak_22_at_SCN3B_5end
chr11 123502588 123502633 CAGE_peak_16_at_SCN3B_5end
chr11 123524532 123524556 CAGE_peak_5_at_SCN3B_5end
chr11 123524559 123524570 CAGE_peak_12_at_SCN3B_5end
chr11 123524778 123524799 CAGE_peak_7_at_SCN3B_5end
chr11 123525058 123525080 CAGE_peak_8_at_SCN3B_5end
chr11 123525112 123525161 CAGE_peak_3_at_SCN3B_5end
chr11 123525169 123525198 CAGE_peak_4_at_SCN3B_5end
chr11 123525245 123525285 CAGE_peak_2_at_SCN3B_5end
chr11 123525289 123525341 CAGE_peak_1_at_SCN3B_5end
chr11 123525613 123525633 CAGE_peak_6_at_SCN3B_5end
chr11 123525648 123525658 CAGE_peak_19_at_SCN3B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I123509 123509357 123511875 1.48 [{'connected_gene': 'GRAMD1B', 'score': 23.39}, {'connected_gene': 'SCN3B', 'score': 3.12}, {'connected_gene': 'GC11M123460', 'score': 0.25}, {'connected_gene': 'GC11P123564', 'score': 0.23}]
chr11 GH11I123526 123526525 123526684 0.45 [{'connected_gene': 'GRAMD1B', 'score': 21.4}, {'connected_gene': 'SCN3B', 'score': 3.68}, {'connected_gene': 'GC11P123564', 'score': 0.28}, {'connected_gene': 'GC11M123460', 'score': 0.21}]
chr11 GH11I123576 123576801 123577491 1.55 [{'connected_gene': 'GRAMD1B', 'score': 560.9}, {'connected_gene': 'GC11M123574', 'score': 550.77}, {'connected_gene': 'GC11M123576', 'score': 550.77}, {'connected_gene': 'GC11M123572', 'score': 550.77}, {'connected_gene': 'SCN3B', 'score': 10.4}]
chr11 GH11I123543 123543051 123548100 1.35 [{'connected_gene': 'SCN3B', 'score': 9.65}, {'connected_gene': 'UBASH3B', 'score': 4.96}, {'connected_gene': 'GC11P123564', 'score': 0.37}, {'connected_gene': 'GC11M123460', 'score': 0.18}, {'connected_gene': 'GRAMD1B', 'score': 0.09}]
chr11 GH11I123616 123616378 123617111 0.46 [{'connected_gene': 'SCN3B', 'score': 10.68}, {'connected_gene': 'GC11M123609', 'score': 0.77}, {'connected_gene': 'GC11P123628', 'score': 0.44}, {'connected_gene': 'GRAMD1B', 'score': 0.07}]
chr11 GH11I123542 123542137 123542676 0.2 [{'connected_gene': 'SCN3B', 'score': 9.13}, {'connected_gene': 'GC11P123564', 'score': 0.34}, {'connected_gene': 'GC11M123460', 'score': 0.18}, {'connected_gene': 'GRAMD1B', 'score': 0.09}]
chr11 GH11I123535 123535757 123538596 0.96 [{'connected_gene': 'SCN3B', 'score': 9.13}, {'connected_gene': 'GC11P123564', 'score': 0.31}, {'connected_gene': 'GC11M123460', 'score': 0.18}, {'connected_gene': 'GRAMD1B', 'score': 0.1}]
chr11 GH11I123540 123540951 123541580 0.2 [{'connected_gene': 'SCN3B', 'score': 9.13}, {'connected_gene': 'GC11P123564', 'score': 0.34}, {'connected_gene': 'GC11M123460', 'score': 0.18}, {'connected_gene': 'GRAMD1B', 'score': 0.09}]
chr11 GH11I123649 123649212 123649524 0.22 [{'connected_gene': 'SCN3B', 'score': 3.88}, {'connected_gene': 'OR8D4', 'score': 1.87}, {'connected_gene': 'LOC105369543', 'score': 0.77}, {'connected_gene': 'GC11P123628', 'score': 0.34}]
chr11 GH11I123628 123628801 123629942 0.68 [{'connected_gene': 'SCN3B', 'score': 11.36}, {'connected_gene': 'GC11P123628', 'score': 0.77}, {'connected_gene': 'LOC105369543', 'score': 0.34}]
chr11 GH11I123660 123660153 123660302 0.56 [{'connected_gene': 'SCN3B', 'score': 0.77}, {'connected_gene': 'LOC105369543', 'score': 0.44}, {'connected_gene': 'GC11P123730', 'score': 0.19}]
chr11 GH11I123702 123702833 123702982 0.2 [{'connected_gene': 'SCN3B', 'score': 10.8}, {'connected_gene': 'GC11P123730', 'score': 0.31}]
chr11 GH11I123680 123680895 123681742 0.31 [{'connected_gene': 'SCN3B', 'score': 11.51}, {'connected_gene': 'GC11P123730', 'score': 0.25}]
chr11 GH11I123700 123700699 123701502 0.43 [{'connected_gene': 'SCN3B', 'score': 11.02}, {'connected_gene': 'GC11P123730', 'score': 0.31}]
chr11 GH11I123707 123707693 123707842 0.57 [{'connected_gene': 'SCN3B', 'score': 10.86}, {'connected_gene': 'GC11P123730', 'score': 0.34}]
chr11 GH11I123695 123695138 123695529 0.23 [{'connected_gene': 'OR6X1', 'score': 15.73}, {'connected_gene': 'OR8D4', 'score': 15.11}, {'connected_gene': 'OR10G4', 'score': 13.71}, {'connected_gene': 'OR4D5', 'score': 13.51}, {'connected_gene': 'OR10G7', 'score': 13.18}, {'connected_gene': 'SCN3B', 'score': 11.08}, {'connected_gene': 'ZNF202', 'score': 10.13}, {'connected_gene': 'OR6M1', 'score': 9.37}, {'connected_gene': 'OR6T1', 'score': 6.89}, {'connected_gene': 'OR10G9', 'score': 1.72}, {'connected_gene': 'OR10S1', 'score': 1.53}, {'connected_gene': 'GC11P123730', 'score': 0.28}]
chr11 GH11I124086 124086647 124086833 0.44 [{'connected_gene': 'LOC105369545', 'score': 550.77}, {'connected_gene': 'VWA5A', 'score': 12.35}, {'connected_gene': 'TMEM225', 'score': 3.56}, {'connected_gene': 'SCN3B', 'score': 2.47}, {'connected_gene': 'OR6M1', 'score': 1.93}, {'connected_gene': 'OR8D1', 'score': 1.55}, {'connected_gene': 'OR10D4P', 'score': 0.44}]
chr11 GH11I123641 123641053 123641222 0.54 [{'connected_gene': 'LOC105369543', 'score': 0.39}, {'connected_gene': 'SCN3B', 'score': 0.39}, {'connected_gene': 'GC11P123628', 'score': 0.37}]
chr11 GH11I123653 123653690 123656269 1.94 [{'connected_gene': 'LOC105369543', 'score': 550.77}, {'connected_gene': 'SCN3B', 'score': 550.77}]

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