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
ENST00000520791 [[99956630, 99957051], [99958258, 99958530]] None
ENST00000523368 [[99956669, 99957051], [99961066, 99961836], [99962883, 99963250]] [[99961180, 99961836], [99962883, 99963094]]
ENST00000297565 [[99956669, 99957051], [99961066, 99961836], [99962883, 99962983], [99963746, 99964332]] [[99961180, 99961836], [99962883, 99962983], [99963746, 99963929]]
ENST00000520722 [[99956673, 99957051], [99961474, 99961535]] None
ENST00000521044 [[99956683, 99957051], [99961255, 99961549]] None
ENST00000435298 [[99956685, 99957051], [99961066, 99961836], [99962883, 99962983], [99963828, 99964328]] [[99961180, 99961836], [99962883, 99962983], [99963828, 99963903]]
ENST00000522510 [[99956886, 99957051], [99960400, 99960649], [99961066, 99961836], [99962883, 99962983], [99963746, 99963990]] [[99961180, 99961836], [99962883, 99962983], [99963746, 99963929]]
ENST00000457907 [[99956886, 99957051], [99960400, 99960649], [99961066, 99961836], [99962883, 99962983], [99963746, 99963990]] [[99960400, 99960649], [99961066, 99961836], [99962883, 99962983], [99963746, 99963929]]
ENST00000520951 [[99960449, 99960536], [99961066, 99961832]] [[99960491, 99960536], [99961066, 99961832]]
ENST00000518199 [[99960619, 99960914], [99961066, 99961819]] [[99961180, 99961819]]
NM_053001 [[99956630, 99957051], [99961066, 99961836], [99962883, 99962983], [99963828, 99964332]] [[99961180, 99961836], [99962883, 99962983], [99963828, 99963903]]
NM_001142462 [[99956630, 99957051], [99961066, 99961836], [99962883, 99962983], [99963746, 99964332]] [[99961180, 99961836], [99962883, 99962983], [99963746, 99963929]]
NM_001286841 [[99956630, 99957051], [99960400, 99960649], [99961066, 99961836], [99962883, 99962983], [99963746, 99964332]] [[99960400, 99960649], [99961066, 99961836], [99962883, 99962983], [99963746, 99963929]]
Promoter
Chrom Start End Description
chr8 99956662 99956684 CAGE_peak_1_at_OSR2_5end
chr8 99956759 99956767 CAGE_peak_5_at_OSR2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I099018 99018953 99020184 0.43 [{'connected_gene': 'STK3', 'score': 10.7}, {'connected_gene': 'OSR2', 'score': 10.7}, {'connected_gene': 'POP1', 'score': 10.02}, {'connected_gene': 'VPS13B', 'score': 5.09}, {'connected_gene': 'ENSG00000253562', 'score': 0.19}]
chr8 GH08I098973 98973184 98974925 0.79 [{'connected_gene': 'STK3', 'score': 12.34}, {'connected_gene': 'OSR2', 'score': 12.33}, {'connected_gene': 'VPS13B', 'score': 11.59}, {'connected_gene': 'LOC105375666', 'score': 11.59}, {'connected_gene': 'ENSG00000229625', 'score': 0.39}, {'connected_gene': 'GC08P098985', 'score': 0.39}]
chr8 GH08I098983 98983413 98983562 0.74 [{'connected_gene': 'STK3', 'score': 12.29}, {'connected_gene': 'OSR2', 'score': 12.28}, {'connected_gene': 'VPS13B', 'score': 11.44}, {'connected_gene': 'LOC105375666', 'score': 11.44}, {'connected_gene': 'GC08P098985', 'score': 0.77}, {'connected_gene': 'ENSG00000229625', 'score': 0.34}]
chr8 GH08I098163 98163431 98169006 1.24 [{'connected_gene': 'VPS13B', 'score': 4.41}, {'connected_gene': 'OSR2', 'score': 4.12}, {'connected_gene': 'GC08P098161', 'score': 0.44}, {'connected_gene': 'LOC105375660', 'score': 0.39}, {'connected_gene': 'GC08P097993', 'score': 0.09}]
chr8 GH08I098926 98926765 98927913 0.46 [{'connected_gene': 'VPS13B', 'score': 4.72}, {'connected_gene': 'RN7SKP85', 'score': 0.44}, {'connected_gene': 'OSR2', 'score': 0.39}, {'connected_gene': 'STK3', 'score': 0.37}]
chr8 GH08I098990 98990453 98990602 0.2 [{'connected_gene': 'VPS13B', 'score': 11.95}, {'connected_gene': 'LOC105375666', 'score': 11.95}, {'connected_gene': 'STK3', 'score': 11.33}, {'connected_gene': 'OSR2', 'score': 11.31}, {'connected_gene': 'ENSG00000253562', 'score': 9.96}, {'connected_gene': 'GC08P098985', 'score': 0.77}, {'connected_gene': 'ENSG00000253180', 'score': 0.39}]
chr8 GH08I098988 98988233 98988362 0.31 [{'connected_gene': 'VPS13B', 'score': 11.95}, {'connected_gene': 'LOC105375666', 'score': 11.95}, {'connected_gene': 'STK3', 'score': 11.45}, {'connected_gene': 'OSR2', 'score': 11.44}, {'connected_gene': 'ENSG00000253562', 'score': 9.89}, {'connected_gene': 'GC08P098985', 'score': 0.77}, {'connected_gene': 'ENSG00000253180', 'score': 0.37}]
chr8 GH08I099011 99011870 99014787 2.1 [{'connected_gene': 'VPS13B', 'score': 633.66}, {'connected_gene': 'LOC105375666', 'score': 550.77}, {'connected_gene': 'ENSG00000245970', 'score': 60.36}, {'connected_gene': 'RPL30', 'score': 30.86}, {'connected_gene': 'OSR2', 'score': 21.56}, {'connected_gene': 'ENSG00000271930', 'score': 12.52}, {'connected_gene': 'POP1', 'score': 9.78}, {'connected_gene': 'ENSG00000253562', 'score': 0.18}]
chr8 GH08I098939 98939014 98951958 2.74 [{'connected_gene': 'OSR2', 'score': 554.9}, {'connected_gene': 'STK3', 'score': 552.79}, {'connected_gene': 'ENSG00000271930', 'score': 550.77}, {'connected_gene': 'VPS13B', 'score': 14.09}, {'connected_gene': 'ENSG00000245970', 'score': 11.01}, {'connected_gene': 'POP1', 'score': 10.01}, {'connected_gene': 'ENSG00000229625', 'score': 0.37}]
chr8 GH08I098934 98934071 98934326 0.2 [{'connected_gene': 'OSR2', 'score': 0.77}, {'connected_gene': 'STK3', 'score': 0.44}, {'connected_gene': 'RN7SKP85', 'score': 0.39}]
chr8 GH08I098937 98937642 98937791 0.58 [{'connected_gene': 'OSR2', 'score': 550.77}, {'connected_gene': 'STK3', 'score': 0.44}, {'connected_gene': 'RN7SKP85', 'score': 0.37}]
chr8 GH08I098997 98997973 98998102 0.63 [{'connected_gene': 'OSR2', 'score': 10.92}, {'connected_gene': 'STK3', 'score': 10.92}, {'connected_gene': 'ENSG00000253562', 'score': 10.03}, {'connected_gene': 'ENSG00000253180', 'score': 0.44}, {'connected_gene': 'GC08P098985', 'score': 0.39}, {'connected_gene': 'LOC105375666', 'score': 0.37}]
chr8 GH08I098929 98929820 98931587 0.9 [{'connected_gene': 'OSR2', 'score': 0.44}, {'connected_gene': 'RN7SKP85', 'score': 0.44}, {'connected_gene': 'STK3', 'score': 0.39}]
chr8 GH08I098925 98925796 98926562 0.62 [{'connected_gene': 'RN7SKP85', 'score': 0.77}, {'connected_gene': 'OSR2', 'score': 0.39}, {'connected_gene': 'STK3', 'score': 0.37}]
chr8 GH08I098986 98986855 98987167 0.38 [{'connected_gene': 'GC08P098985', 'score': 550.77}, {'connected_gene': 'STK3', 'score': 11.47}, {'connected_gene': 'OSR2', 'score': 11.45}, {'connected_gene': 'VPS13B', 'score': 11.3}, {'connected_gene': 'LOC105375666', 'score': 11.3}, {'connected_gene': 'ENSG00000253180', 'score': 0.37}]
chr8 GH08I099002 99002401 99002600 0.46 [{'connected_gene': 'ENSG00000253180', 'score': 550.77}, {'connected_gene': 'STK3', 'score': 11.12}, {'connected_gene': 'OSR2', 'score': 11.11}, {'connected_gene': 'LOC105375666', 'score': 0.39}, {'connected_gene': 'GC08P098985', 'score': 0.37}]