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
ENST00000254351 [[20400557, 20402696], [20402847, 20402983], [20403573, 20404052], [20405103, 20405185], [20424562, 20424873]] [[20402526, 20402696], [20402847, 20402983], [20403573, 20404052], [20405103, 20405185], [20424562, 20424628]]
ENST00000381150 [[20400559, 20402696], [20402847, 20402983], [20403573, 20404052], [20405103, 20405185], [20424562, 20424847], [20425022, 20425194]] [[20402526, 20402696], [20402847, 20402983], [20403573, 20404052], [20405103, 20405185], [20424562, 20424628]]
ENST00000403076 [[20401246, 20402062], [20403722, 20404052], [20405103, 20405185], [20424562, 20424857]] [[20402030, 20402062], [20403722, 20404052], [20405103, 20405185], [20424562, 20424628]]
ENST00000482879 [[20402017, 20402559], [20403762, 20404052], [20405103, 20405185], [20422963, 20423149]] None
ENST00000429035 [[20403578, 20404052], [20405103, 20405185], [20423951, 20424041]] [[20403578, 20404052], [20405103, 20405185], [20423951, 20424041]]
ENST00000447124 [[20403912, 20404052], [20405103, 20405185], [20422963, 20423039], [20424562, 20424855]] [[20423018, 20423039], [20424562, 20424628]]
NM_002997 [[20400557, 20402696], [20402847, 20402983], [20403573, 20404052], [20405103, 20405185], [20424562, 20424927]] [[20402526, 20402696], [20402847, 20402983], [20403573, 20404052], [20405103, 20405185], [20424562, 20424628]]
NM_001006946 [[20400557, 20402696], [20402847, 20402983], [20403573, 20404052], [20405103, 20405185], [20424562, 20424847], [20425022, 20425194]] [[20402526, 20402696], [20402847, 20402983], [20403573, 20404052], [20405103, 20405185], [20424562, 20424628]]
Promoter
Chrom Start End Description
chr2 20424783 20424794 CAGE_peak_4_at_SDC1_5end
chr2 20424816 20424834 CAGE_peak_1_at_SDC1_5end
chr2 20424844 20424863 CAGE_peak_2_at_SDC1_5end
chr2 20424884 20424897 CAGE_peak_3_at_SDC1_5end
chr2 20425105 20425154 CAGE_peak_7_at_SDC1_5end
chr2 20425158 20425206 CAGE_peak_6_at_SDC1_5end
chr2 20425208 20425273 CAGE_peak_5_at_SDC1_5end
chr2 20425294 20425305 CAGE_peak_12_at_SDC1_5end
chr2 20425445 20425460 CAGE_peak_11_at_SDC1_5end
chr2 20425480 20425493 CAGE_peak_8_at_SDC1_5end
chr2 20425682 20425693 CAGE_peak_17_at_SDC1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I020112 20112676 20116513 0.97 [{'connected_gene': 'LAPTM4A', 'score': 15.38}, {'connected_gene': 'ENSG00000234378', 'score': 14.63}, {'connected_gene': 'RNU6-961P', 'score': 11.46}, {'connected_gene': 'SDC1', 'score': 11.36}, {'connected_gene': 'MATN3', 'score': 10.4}, {'connected_gene': 'GC02P020141', 'score': 0.31}, {'connected_gene': 'LOC105373463', 'score': 0.21}]
chr2 GH02I020608 20608853 20612351 1.58 [{'connected_gene': 'HS1BP3', 'score': 7.19}, {'connected_gene': 'SDC1', 'score': 4.93}, {'connected_gene': 'ENSG00000269976', 'score': 4.74}, {'connected_gene': 'RPS25P3', 'score': 0.77}, {'connected_gene': 'GC02M020612', 'score': 0.44}]
chr2 GH02I020181 20181766 20187458 1.73 [{'connected_gene': 'SDC1', 'score': 21.55}, {'connected_gene': 'MATN3', 'score': 18.68}, {'connected_gene': 'TTC32', 'score': 13.27}, {'connected_gene': 'PUM2', 'score': 13.26}, {'connected_gene': 'RNU7-113P', 'score': 11.12}, {'connected_gene': 'HS1BP3', 'score': 4.01}, {'connected_gene': 'RNU6-961P', 'score': 0.44}, {'connected_gene': 'GC02M020197', 'score': 0.28}]
chr2 GH02I020188 20188002 20190369 0.86 [{'connected_gene': 'SDC1', 'score': 17.73}, {'connected_gene': 'MATN3', 'score': 8.53}, {'connected_gene': 'RNU6-961P', 'score': 0.39}, {'connected_gene': 'GC02M020197', 'score': 0.29}]
chr2 GH02I020195 20195297 20199817 1.1 [{'connected_gene': 'SDC1', 'score': 5.33}, {'connected_gene': 'MATN3', 'score': 4.33}, {'connected_gene': 'GC02M020197', 'score': 0.34}, {'connected_gene': 'RNU6-961P', 'score': 0.34}]
chr2 GH02I020192 20192570 20194016 0.62 [{'connected_gene': 'SDC1', 'score': 7.72}, {'connected_gene': 'MATN3', 'score': 6.25}, {'connected_gene': 'RNU6-961P', 'score': 0.37}, {'connected_gene': 'GC02M020197', 'score': 0.31}]
chr2 GH02I020172 20172053 20173069 1.21 [{'connected_gene': 'SDC1', 'score': 13.31}, {'connected_gene': 'MATN3', 'score': 6.42}, {'connected_gene': 'GC02P020178', 'score': 0.77}, {'connected_gene': 'GC02M020159', 'score': 0.44}]
chr2 GH02I020205 20205353 20226614 2.76 [{'connected_gene': 'SDC1', 'score': 589.92}, {'connected_gene': 'PUM2', 'score': 16.04}, {'connected_gene': 'RNU7-113P', 'score': 11.57}, {'connected_gene': 'RNU6-961P', 'score': 11.28}, {'connected_gene': 'LAPTM4A', 'score': 10.19}, {'connected_gene': 'ENSG00000228950', 'score': 5.28}, {'connected_gene': 'RHOB', 'score': 1.24}, {'connected_gene': 'GC02M020197', 'score': 0.77}]
chr2 GH02I020330 20330340 20330489 0.38 [{'connected_gene': 'SDC1', 'score': 10.72}, {'connected_gene': 'GC02P020325', 'score': 0.77}, {'connected_gene': 'PUM2', 'score': 0.34}]
chr2 GH02I020343 20343601 20344200 0.31 [{'connected_gene': 'SDC1', 'score': 15.64}, {'connected_gene': 'PUM2', 'score': 0.44}, {'connected_gene': 'GC02P020325', 'score': 0.37}]
chr2 GH02I020339 20339601 20339800 0.31 [{'connected_gene': 'SDC1', 'score': 9.27}, {'connected_gene': 'GC02P020325', 'score': 0.39}, {'connected_gene': 'PUM2', 'score': 0.39}]
chr2 GH02I020344 20343201 20343400 0.31 [{'connected_gene': 'SDC1', 'score': 14.46}, {'connected_gene': 'PUM2', 'score': 0.44}, {'connected_gene': 'GC02P020325', 'score': 0.37}]
chr2 GH02I020122 20121763 20123731 0.43 [{'connected_gene': 'SDC1', 'score': 16.8}, {'connected_gene': 'ENSG00000234378', 'score': 12.37}, {'connected_gene': 'RNU6-961P', 'score': 11.48}, {'connected_gene': 'MATN3', 'score': 10.39}, {'connected_gene': 'LAPTM4A', 'score': 6.06}, {'connected_gene': 'GC02P020141', 'score': 0.37}, {'connected_gene': 'LOC105373463', 'score': 0.19}]
chr2 GH02I020135 20135740 20136779 1.32 [{'connected_gene': 'SDC1', 'score': 18.91}, {'connected_gene': 'RNU6-961P', 'score': 11.57}, {'connected_gene': 'MATN3', 'score': 10.34}, {'connected_gene': 'GC02P020141', 'score': 0.44}, {'connected_gene': 'ENSG00000234378', 'score': 0.31}]
chr2 GH02I020128 20128843 20131337 0.88 [{'connected_gene': 'SDC1', 'score': 16.22}, {'connected_gene': 'RNU6-961P', 'score': 11.56}, {'connected_gene': 'MATN3', 'score': 10.42}, {'connected_gene': 'ENSG00000234378', 'score': 5.54}, {'connected_gene': 'GC02P020141', 'score': 0.39}]
chr2 GH02I020136 20136924 20137577 0.31 [{'connected_gene': 'SDC1', 'score': 11.71}, {'connected_gene': 'RNU6-961P', 'score': 11.57}, {'connected_gene': 'MATN3', 'score': 10.34}, {'connected_gene': 'GC02P020141', 'score': 0.77}, {'connected_gene': 'ENSG00000234378', 'score': 0.29}]
chr2 GH02I020148 20148439 20150139 0.95 [{'connected_gene': 'SDC1', 'score': 17.55}, {'connected_gene': 'RNU6-961P', 'score': 12.1}, {'connected_gene': 'TTC32', 'score': 4.99}, {'connected_gene': 'GC02M020149', 'score': 0.77}, {'connected_gene': 'GC02P020141', 'score': 0.44}]
chr2 GH02I020204 20204880 20205029 0.63 [{'connected_gene': 'SDC1', 'score': 17.6}, {'connected_gene': 'RNU6-961P', 'score': 12.07}, {'connected_gene': 'RNU7-113P', 'score': 11.05}, {'connected_gene': 'GC02M020197', 'score': 0.37}]
chr2 GH02I020230 20230607 20237797 1.53 [{'connected_gene': 'SDC1', 'score': 19.54}, {'connected_gene': 'RNU6-961P', 'score': 11.2}, {'connected_gene': 'ENSG00000269976', 'score': 4.33}, {'connected_gene': 'GC02M020239', 'score': 0.44}]
chr2 GH02I020193 20191460 20191609 0.76 [{'connected_gene': 'SDC1', 'score': 7.36}, {'connected_gene': 'RNU6-961P', 'score': 0.37}, {'connected_gene': 'GC02M020197', 'score': 0.31}]
chr2 GH02I020191 20191723 20192178 0.56 [{'connected_gene': 'SDC1', 'score': 7.63}, {'connected_gene': 'RNU6-961P', 'score': 0.37}, {'connected_gene': 'GC02M020197', 'score': 0.31}]
chr2 GH02I020177 20177517 20181335 1.31 [{'connected_gene': 'SDC1', 'score': 25.62}, {'connected_gene': 'RNU7-113P', 'score': 11.05}, {'connected_gene': 'MATN3', 'score': 9.67}, {'connected_gene': 'RNU6-961P', 'score': 0.77}, {'connected_gene': 'GC02M020197', 'score': 0.26}]
chr2 GH02I020381 20381291 20382133 0.93 [{'connected_gene': 'SDC1', 'score': 7.33}, {'connected_gene': 'SLC7A15P', 'score': 0.77}, {'connected_gene': 'GC02P020358', 'score': 0.34}]
chr2 GH02I020171 20171040 20172049 0.74 [{'connected_gene': 'SDC1', 'score': 4.35}, {'connected_gene': 'GC02P020178', 'score': 0.77}, {'connected_gene': 'GC02M020159', 'score': 0.44}]
chr2 GH02I020123 20123756 20126676 0.49 [{'connected_gene': 'MATN3', 'score': 18.52}, {'connected_gene': 'SDC1', 'score': 11.23}, {'connected_gene': 'RNU6-961P', 'score': 10.99}, {'connected_gene': 'ENSG00000234378', 'score': 7.02}, {'connected_gene': 'TTC32', 'score': 5.21}, {'connected_gene': 'WDR35', 'score': 5.1}, {'connected_gene': 'GC02P020141', 'score': 0.37}, {'connected_gene': 'LOC105373463', 'score': 0.19}]
chr2 GH02I020155 20155906 20158136 1.37 [{'connected_gene': 'RPS16P2', 'score': 550.77}, {'connected_gene': 'SDC1', 'score': 5.24}, {'connected_gene': 'GC02M020159', 'score': 0.44}]
chr2 GH02I020165 20165120 20165269 0.89 [{'connected_gene': 'PUM2', 'score': 14.03}, {'connected_gene': 'SDC1', 'score': 11.16}, {'connected_gene': 'LDAH', 'score': 9.81}, {'connected_gene': 'GC02M020159', 'score': 0.77}, {'connected_gene': 'GC02P020178', 'score': 0.39}]
chr2 GH02I020348 20348496 20353270 2.3 [{'connected_gene': 'PUM2', 'score': 562.03}, {'connected_gene': 'LINC00954', 'score': 13.88}, {'connected_gene': 'SDC1', 'score': 9.6}, {'connected_gene': 'ENSG00000233005', 'score': 4.22}, {'connected_gene': 'ENSG00000269976', 'score': 4.2}, {'connected_gene': 'GC02P020325', 'score': 0.34}]
chr2 GH02I020166 20165646 20167618 1.3 [{'connected_gene': 'PUM2', 'score': 75.73}, {'connected_gene': 'TTC32', 'score': 41.11}, {'connected_gene': 'MATN3', 'score': 15.42}, {'connected_gene': 'WDR35', 'score': 11.75}, {'connected_gene': 'LINC00954', 'score': 11.67}, {'connected_gene': 'LINC01376', 'score': 11.39}, {'connected_gene': 'SDC1', 'score': 11.18}, {'connected_gene': 'LAPTM4A', 'score': 10.23}, {'connected_gene': 'GC02M020159', 'score': 0.77}, {'connected_gene': 'GC02P020178', 'score': 0.44}]
chr2 GH02I020240 20240827 20241225 0.2 [{'connected_gene': 'LOC151457', 'score': 550.77}, {'connected_gene': 'GC02M020239', 'score': 550.77}, {'connected_gene': 'SDC1', 'score': 10.22}, {'connected_gene': 'RNU6-961P', 'score': 9.84}]
chr2 GH02I020241 20241937 20243397 0.69 [{'connected_gene': 'LOC151457', 'score': 550.77}, {'connected_gene': 'GC02M020239', 'score': 550.77}, {'connected_gene': 'SDC1', 'score': 16.01}, {'connected_gene': 'GC02M020248', 'score': 0.77}]
chr2 GH02I019354 19354281 19359523 2.11 [{'connected_gene': 'OSR1', 'score': 550.77}, {'connected_gene': 'GC02P019358', 'score': 550.77}, {'connected_gene': 'SDC1', 'score': 4.68}, {'connected_gene': 'MIR4757', 'score': 0.44}]
chr2 GH02I020121 20121100 20121249 0.2 [{'connected_gene': 'RNU6-961P', 'score': 11.48}, {'connected_gene': 'SDC1', 'score': 11.36}, {'connected_gene': 'LAPTM4A', 'score': 6.46}, {'connected_gene': 'ENSG00000234378', 'score': 0.39}, {'connected_gene': 'GC02P020141', 'score': 0.34}, {'connected_gene': 'LOC105373463', 'score': 0.2}]
chr2 GH02I020201 20201414 20202091 0.52 [{'connected_gene': 'RNU6-961P', 'score': 12.36}, {'connected_gene': 'SDC1', 'score': 11.62}, {'connected_gene': 'GC02M020197', 'score': 0.37}]
chr2 GH02I020203 20203520 20204185 0.43 [{'connected_gene': 'RNU6-961P', 'score': 12.36}, {'connected_gene': 'SDC1', 'score': 11.62}, {'connected_gene': 'GC02M020197', 'score': 0.37}]
chr2 GH02I020290 20290620 20291986 0.81 [{'connected_gene': 'LOC100421404', 'score': 550.77}, {'connected_gene': 'SDC1', 'score': 14.92}, {'connected_gene': 'RNU7-113P', 'score': 12.34}, {'connected_gene': 'ENSG00000228950', 'score': 4.7}, {'connected_gene': 'PUM2', 'score': 0.21}]
chr2 GH02I020164 20164460 20164729 0.96 [{'connected_gene': 'GC02M020159', 'score': 550.77}, {'connected_gene': 'LAPTM4A', 'score': 14.13}, {'connected_gene': 'TTC32', 'score': 13.01}, {'connected_gene': 'SDC1', 'score': 11.16}, {'connected_gene': 'WDR35', 'score': 10.42}, {'connected_gene': 'PUM2', 'score': 10.31}, {'connected_gene': 'GC02P020178', 'score': 0.39}]
chr2 GH02I020138 20138971 20142761 1.52 [{'connected_gene': 'GC02P020141', 'score': 550.77}, {'connected_gene': 'SDC1', 'score': 7.67}, {'connected_gene': 'ENSG00000234378', 'score': 6.12}, {'connected_gene': 'MATN3', 'score': 5.22}, {'connected_gene': 'LAPTM4A', 'score': 5.18}]
chr2 GH02I020108 20108577 20111601 1.01 [{'connected_gene': 'ENSG00000234378', 'score': 15.71}, {'connected_gene': 'SDC1', 'score': 11.18}, {'connected_gene': 'MATN3', 'score': 11.09}, {'connected_gene': 'RNU6-961P', 'score': 11.01}, {'connected_gene': 'GC02P020141', 'score': 0.29}, {'connected_gene': 'LOC105373463', 'score': 0.22}]
chr2 GH02I020328 20327801 20328000 0.2 [{'connected_gene': 'GC02P020325', 'score': 550.77}, {'connected_gene': 'SDC1', 'score': 10.72}, {'connected_gene': 'PUM2', 'score': 0.34}]
chr2 GH02I020327 20327480 20327629 0.49 [{'connected_gene': 'GC02P020325', 'score': 550.77}, {'connected_gene': 'SDC1', 'score': 10.72}, {'connected_gene': 'PUM2', 'score': 0.34}]
chr2 GH02I020613 20613744 20622215 1.63 [{'connected_gene': 'GC02M020612', 'score': 550.77}, {'connected_gene': 'RHOB', 'score': 8.68}, {'connected_gene': 'HS1BP3', 'score': 7.44}, {'connected_gene': 'ENSG00000269976', 'score': 6.43}, {'connected_gene': 'SDC1', 'score': 5.34}, {'connected_gene': 'GDF7', 'score': 2.92}]
chr2 GH02I020329 20327323 20327382 0.76 [{'connected_gene': 'GC02P020325', 'score': 550.77}, {'connected_gene': 'PUM2', 'score': 550.34}, {'connected_gene': 'SDC1', 'score': 10.72}]
chr2 GH02I020153 20153265 20154352 0.2 [{'connected_gene': 'GC02M020149', 'score': 550.77}, {'connected_gene': 'RNU6-961P', 'score': 12.23}, {'connected_gene': 'TTC32', 'score': 5.94}, {'connected_gene': 'SDC1', 'score': 4.69}, {'connected_gene': 'RPS16P2', 'score': 0.77}]

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