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
ENST00000356284 [[168841830, 168842134], [168910594, 168910766], [168927025, 168927132], [168928307, 168928407], [168944304, 168944352], [168947798, 168947849], [168949808, 168949883], [168999497, 168999684], [169008836, 169008919], [169051360, 169051463], [169053633, 169053908], [169064753, 169064791], [169067100, 169068674]] [[168842050, 168842134], [168910594, 168910766], [168927025, 168927132], [168928307, 168928407], [168944304, 168944352], [168947798, 168947849], [168949808, 168949883], [168999497, 168999684], [169008836, 169008919], [169051360, 169051463], [169053633, 169053908], [169064753, 169064791], [169067100, 169067118]]
ENST00000354536 [[168841830, 168842134], [168910594, 168910766], [168927025, 168927132], [168928307, 168928407], [168944304, 168944352], [168947765, 168947849], [168949808, 168949883], [168999497, 168999684], [169008836, 169008919], [169051360, 169051463], [169053633, 169053908], [169064753, 169064791], [169067100, 169068674]] [[168842050, 168842134], [168910594, 168910766], [168927025, 168927132], [168928307, 168928407], [168944304, 168944352], [168947765, 168947849], [168949808, 168949883], [168999497, 168999684], [169008836, 169008919], [169051360, 169051463], [169053633, 169053908], [169064753, 169064791], [169067100, 169067118]]
ENST00000392100 [[169053724, 169053908], [169056075, 169056170], [169064753, 169064791], [169067100, 169067183]] [[169053724, 169053908], [169056075, 169056095]]
ENST00000417208 [[169053763, 169053908], [169064753, 169064791], [169065415, 169065904]] [[169053763, 169053908], [169064753, 169064791], [169065415, 169065487]]
ENST00000477998 [[169053882, 169053908], [169064753, 169064791], [169072921, 169072986], [169073751, 169073984]] None
NM_001166412 [[168841830, 168842134], [168910594, 168910766], [168927025, 168927132], [168928307, 168928407], [168944304, 168944352], [168947798, 168947849], [168949808, 168949883], [168999497, 168999684], [169008836, 169008919], [169051360, 169051463], [169053633, 169053908], [169064753, 169064791], [169067100, 169068674]] [[168842050, 168842134], [168910594, 168910766], [168927025, 168927132], [168928307, 168928407], [168944304, 168944352], [168947798, 168947849], [168949808, 168949883], [168999497, 168999684], [169008836, 169008919], [169051360, 169051463], [169053633, 169053908], [169064753, 169064791], [169067100, 169067118]]
NM_022138 [[168841830, 168842134], [168910594, 168910766], [168927025, 168927132], [168928307, 168928407], [168944304, 168944352], [168947765, 168947849], [168949808, 168949883], [168999497, 168999684], [169008836, 169008919], [169051360, 169051463], [169053633, 169053908], [169064753, 169064791], [169067100, 169068674]] [[168842050, 168842134], [168910594, 168910766], [168927025, 168927132], [168928307, 168928407], [168944304, 168944352], [168947765, 168947849], [168949808, 168949883], [168999497, 168999684], [169008836, 169008919], [169051360, 169051463], [169053633, 169053908], [169064753, 169064791], [169067100, 169067118]]
Promoter
Chrom Start End Description
chr6 168841817 168841848 CAGE_peak_2_at_SMOC2_5end
chr6 168841853 168841874 CAGE_peak_1_at_SMOC2_5end
chr6 168841898 168841909 CAGE_peak_3_at_SMOC2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I168563 168563434 168565761 0.46 [{'connected_gene': 'SMOC2', 'score': 6.32}, {'connected_gene': 'LINC01558', 'score': 4.89}, {'connected_gene': 'GC06M168474', 'score': 0.18}, {'connected_gene': 'LOC105378142', 'score': 0.12}]
chr6 GH06I168569 168569567 168571721 0.2 [{'connected_gene': 'SMOC2', 'score': 5.46}, {'connected_gene': 'LINC01558', 'score': 5.27}, {'connected_gene': 'GC06M168474', 'score': 0.17}, {'connected_gene': 'LOC105378142', 'score': 0.13}]
chr6 GH06I168574 168574296 168576200 0.69 [{'connected_gene': 'SMOC2', 'score': 5.87}, {'connected_gene': 'LINC01558', 'score': 5.26}, {'connected_gene': 'GC06M168474', 'score': 0.16}, {'connected_gene': 'LOC105378142', 'score': 0.13}]
chr6 GH06I168666 168666364 168667833 0.2 [{'connected_gene': 'SMOC2', 'score': 10.7}, {'connected_gene': 'LOC105378142', 'score': 0.31}, {'connected_gene': 'GC06M168474', 'score': 0.09}]
chr6 GH06I168540 168540821 168542739 0.66 [{'connected_gene': 'SMOC2', 'score': 4.93}, {'connected_gene': 'GC06M168474', 'score': 0.22}, {'connected_gene': 'LOC105378142', 'score': 0.1}]
chr6 GH06I168607 168607876 168608631 0.4 [{'connected_gene': 'SMOC2', 'score': 14.85}, {'connected_gene': 'LOC105378142', 'score': 0.17}, {'connected_gene': 'GC06M168474', 'score': 0.13}]
chr6 GH06I168532 168532169 168532445 0.2 [{'connected_gene': 'SMOC2', 'score': 4.68}, {'connected_gene': 'GC06M168474', 'score': 0.25}, {'connected_gene': 'LOC105378142', 'score': 0.1}]
chr6 GH06I168516 168516386 168517736 0.2 [{'connected_gene': 'SMOC2', 'score': 5.9}, {'connected_gene': 'GC06M168474', 'score': 0.29}, {'connected_gene': 'LOC105378142', 'score': 0.1}]
chr6 GH06I168525 168525986 168528030 0.51 [{'connected_gene': 'SMOC2', 'score': 16.74}, {'connected_gene': 'GC06M168474', 'score': 0.26}, {'connected_gene': 'LOC105378142', 'score': 0.1}]
chr6 GH06I168515 168515271 168515633 0.2 [{'connected_gene': 'SMOC2', 'score': 5.37}, {'connected_gene': 'GC06M168474', 'score': 0.29}, {'connected_gene': 'LOC105378142', 'score': 0.1}]
chr6 GH06I168544 168544679 168547331 0.43 [{'connected_gene': 'SMOC2', 'score': 10.77}, {'connected_gene': 'GC06M168474', 'score': 0.21}, {'connected_gene': 'LOC105378142', 'score': 0.11}]
chr6 GH06I168553 168553615 168555559 0.31 [{'connected_gene': 'SMOC2', 'score': 11.14}, {'connected_gene': 'GC06M168474', 'score': 0.19}, {'connected_gene': 'LOC105378142', 'score': 0.11}]
chr6 GH06I168617 168617021 168617170 0.63 [{'connected_gene': 'SMOC2', 'score': 7.15}, {'connected_gene': 'LOC105378142', 'score': 0.18}, {'connected_gene': 'GC06M168474', 'score': 0.12}]
chr6 GH06I168622 168622334 168623538 0.2 [{'connected_gene': 'SMOC2', 'score': 7.62}, {'connected_gene': 'LOC105378142', 'score': 0.19}, {'connected_gene': 'GC06M168474', 'score': 0.12}]
chr6 GH06I168639 168639785 168641802 0.4 [{'connected_gene': 'SMOC2', 'score': 10.89}, {'connected_gene': 'LOC105378142', 'score': 0.23}, {'connected_gene': 'GC06M168474', 'score': 0.1}]
chr6 GH06I168535 168535568 168537420 0.2 [{'connected_gene': 'SMOC2', 'score': 5.52}, {'connected_gene': 'GC06M168474', 'score': 0.23}, {'connected_gene': 'LOC105378142', 'score': 0.1}]
chr6 GH06I168579 168579701 168580052 0.2 [{'connected_gene': 'SMOC2', 'score': 5.47}, {'connected_gene': 'GC06M168474', 'score': 0.15}, {'connected_gene': 'LOC105378142', 'score': 0.13}]
chr6 GH06I168524 168524073 168525538 0.63 [{'connected_gene': 'SMOC2', 'score': 5.31}, {'connected_gene': 'GC06M168474', 'score': 0.26}, {'connected_gene': 'LOC105378142', 'score': 0.09}]
chr6 GH06I168438 168438910 168443247 1.34 [{'connected_gene': 'SMOC2', 'score': 550.77}, {'connected_gene': 'LOC105378141', 'score': 0.31}]
chr6 GH06I168414 168414803 168416014 0.2 [{'connected_gene': 'SMOC2', 'score': 20.09}, {'connected_gene': 'LOC105378141', 'score': 0.77}]
chr6 GH06I168417 168417159 168418939 0.43 [{'connected_gene': 'SMOC2', 'score': 25.48}, {'connected_gene': 'LOC105378141', 'score': 0.77}]
chr6 GH06I168400 168400021 168400170 0.2 [{'connected_gene': 'SMOC2', 'score': 11.45}, {'connected_gene': 'LOC105378140', 'score': 0.39}, {'connected_gene': 'ENSG00000260771', 'score': 0.31}]
chr6 GH06I168376 168376989 168378690 0.2 [{'connected_gene': 'SMOC2', 'score': 9.78}, {'connected_gene': 'ENSG00000260771', 'score': 0.77}, {'connected_gene': 'LOC105378140', 'score': 0.28}]
chr6 GH06I168247 168247261 168248250 0.89 [{'connected_gene': 'SMOC2', 'score': 10.26}, {'connected_gene': 'LOC101929420', 'score': 0.77}, {'connected_gene': 'CTAGE13P', 'score': 0.26}]
chr6 GH06I168466 168466661 168466810 0.2 [{'connected_gene': 'SMOC2', 'score': 7.16}, {'connected_gene': 'GC06P168474', 'score': 0.44}]
chr6 GH06I168451 168451921 168452070 0.38 [{'connected_gene': 'SMOC2', 'score': 0.39}, {'connected_gene': 'GC06P168474', 'score': 0.34}]
chr6 GH06I167685 167684961 167685110 0.31 [{'connected_gene': 'LINC02487', 'score': 550.77}, {'connected_gene': 'LINC01558', 'score': 10.29}, {'connected_gene': 'SMOC2', 'score': 4.53}, {'connected_gene': 'LOC105378132', 'score': 0.39}]
chr6 GH06I168545 168544024 168544267 0.31 [{'connected_gene': 'LINC02519', 'score': 16.98}, {'connected_gene': 'ENSG00000272848', 'score': 15.93}, {'connected_gene': 'AFDN-DT', 'score': 12.81}, {'connected_gene': 'GC06M168474', 'score': 0.21}, {'connected_gene': 'SMOC2', 'score': 0.15}, {'connected_gene': 'LOC105378142', 'score': 0.1}]
chr6 GH06I168659 168659409 168660487 0.62 [{'connected_gene': 'LINC02519', 'score': 33.03}, {'connected_gene': 'ENSG00000272848', 'score': 21.11}, {'connected_gene': 'AFDN-DT', 'score': 10.96}, {'connected_gene': 'AFDN', 'score': 10.22}, {'connected_gene': 'LOC105378142', 'score': 0.28}, {'connected_gene': 'GC06M168474', 'score': 0.1}, {'connected_gene': 'SMOC2', 'score': 0.08}]
chr6 GH06I168648 168648195 168649534 0.76 [{'connected_gene': 'LOC105378142', 'score': 0.25}, {'connected_gene': 'GC06M168474', 'score': 0.1}, {'connected_gene': 'SMOC2', 'score': 0.08}]
chr6 GH06I168634 168634259 168635502 0.51 [{'connected_gene': 'LOC105378142', 'score': 0.21}, {'connected_gene': 'GC06M168474', 'score': 0.1}, {'connected_gene': 'SMOC2', 'score': 0.08}]
chr6 GH06I168637 168637225 168639535 0.86 [{'connected_gene': 'LOC105378142', 'score': 0.22}, {'connected_gene': 'GC06M168474', 'score': 0.1}, {'connected_gene': 'SMOC2', 'score': 0.08}]
chr6 GH06I168610 168610038 168610170 0.63 [{'connected_gene': 'LOC105378142', 'score': 0.18}, {'connected_gene': 'GC06M168474', 'score': 0.13}, {'connected_gene': 'SMOC2', 'score': 0.1}]
chr6 GH06I168625 168625210 168626894 0.4 [{'connected_gene': 'LOC105378142', 'score': 0.2}, {'connected_gene': 'GC06M168474', 'score': 0.11}, {'connected_gene': 'SMOC2', 'score': 0.09}]
chr6 GH06I168650 168650761 168650910 0.4 [{'connected_gene': 'LOC105378142', 'score': 0.26}, {'connected_gene': 'GC06M168474', 'score': 0.1}, {'connected_gene': 'SMOC2', 'score': 0.08}]
chr6 GH06I168672 168672262 168672411 0.2 [{'connected_gene': 'LOC105378142', 'score': 0.34}, {'connected_gene': 'GC06M168474', 'score': 0.09}, {'connected_gene': 'SMOC2', 'score': 0.07}]
chr6 GH06I168597 168597521 168597710 0.43 [{'connected_gene': 'LOC105378142', 'score': 0.15}, {'connected_gene': 'GC06M168474', 'score': 0.14}, {'connected_gene': 'SMOC2', 'score': 0.1}]
chr6 GH06I168415 168413344 168413778 0.69 [{'connected_gene': 'LOC105378141', 'score': 550.77}, {'connected_gene': 'LOC105378140', 'score': 550.77}, {'connected_gene': 'SMOC2', 'score': 25.73}]
chr6 GH06I168413 168413893 168414055 0.38 [{'connected_gene': 'LOC105378141', 'score': 550.77}, {'connected_gene': 'LOC105378140', 'score': 550.77}, {'connected_gene': 'SMOC2', 'score': 24.62}]
chr6 GH06I168332 168332919 168334750 0.62 [{'connected_gene': 'LOC105378139', 'score': 550.77}, {'connected_gene': 'DACT2', 'score': 20.92}, {'connected_gene': 'SMOC2', 'score': 11.01}]
chr6 GH06I169219 169219560 169222129 0.46 [{'connected_gene': 'LOC101929523', 'score': 10.15}, {'connected_gene': 'THBS2', 'score': 5.77}, {'connected_gene': 'SMOC2', 'score': 4.58}]
chr6 GH06I168533 168533511 168534075 0.4 [{'connected_gene': 'GC06M168474', 'score': 0.23}, {'connected_gene': 'SMOC2', 'score': 0.16}, {'connected_gene': 'LOC105378142', 'score': 0.1}]
chr6 GH06I168513 168513747 168514770 0.49 [{'connected_gene': 'GC06M168474', 'score': 0.29}, {'connected_gene': 'SMOC2', 'score': 0.19}, {'connected_gene': 'LOC105378142', 'score': 0.09}]
chr6 GH06I168562 168562386 168563111 0.46 [{'connected_gene': 'GC06M168474', 'score': 0.18}, {'connected_gene': 'SMOC2', 'score': 0.13}, {'connected_gene': 'LOC105378142', 'score': 0.12}]
chr6 GH06I168498 168498141 168498290 0.31 [{'connected_gene': 'GC06M168474', 'score': 0.39}, {'connected_gene': 'SMOC2', 'score': 0.22}, {'connected_gene': 'LOC105378142', 'score': 0.08}]
chr6 GH06I168534 168534348 168534545 0.2 [{'connected_gene': 'GC06M168474', 'score': 0.23}, {'connected_gene': 'SMOC2', 'score': 0.16}, {'connected_gene': 'LOC105378142', 'score': 0.1}]
chr6 GH06I168531 168531509 168531773 0.2 [{'connected_gene': 'GC06M168474', 'score': 0.25}, {'connected_gene': 'SMOC2', 'score': 0.16}, {'connected_gene': 'LOC105378142', 'score': 0.1}]
chr6 GH06I168578 168578884 168579121 0.2 [{'connected_gene': 'GC06M168474', 'score': 0.15}, {'connected_gene': 'LOC105378142', 'score': 0.13}, {'connected_gene': 'SMOC2', 'score': 0.12}]
chr6 GH06I168582 168582522 168585269 0.4 [{'connected_gene': 'GC06M168474', 'score': 0.15}, {'connected_gene': 'LOC105378142', 'score': 0.14}, {'connected_gene': 'SMOC2', 'score': 0.11}]